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
VWA1	64856	broad.mit.edu	37	1	1372687	1372687	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:1372687G>A	uc001afs.2	+	2	674	c.454G>A	c.(454-456)GGC>AGC	p.G152S	VWA1_uc001afr.2_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	152	VWFA.					basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGACCCTGTGGGCCCCCCCAT	0.647000												
KIF1B	23095	broad.mit.edu	37	1	10336425	10336425	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:10336425T>C	uc001aqx.3	+	12	1207	c.1005T>C	c.(1003-1005)GAT>GAC	p.D335D	KIF1B_uc001aqv.3_Silent_p.D329D|KIF1B_uc001aqw.3_Silent_p.D329D|KIF1B_uc001aqy.2_Silent_p.D335D|KIF1B_uc001aqz.2_Silent_p.D335D|KIF1B_uc001ara.2_Silent_p.D335D|KIF1B_uc001arb.2_Silent_p.D335D	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	335	Kinesin-motor.|Interaction with KBP.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCCGCGGATATCAACTACG	0.398000												
PTCHD2	57540	broad.mit.edu	37	1	11595573	11595573	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:11595573G>A	uc001ash.3	+	20	3826	c.3688G>A	c.(3688-3690)GGC>AGC	p.G1230S		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1230	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GTACTGGAGCGGCTGGGAGAT	0.647000												
ATP13A2	23400	broad.mit.edu	37	1	17312850	17312850	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:17312850C>T	uc001baa.2	-	29	3599	c.3409G>A	c.(3409-3411)GTG>ATG	p.V1137M	ATP13A2_uc001azz.1_Missense_Mutation_p.R227H|ATP13A2_uc001bab.2_Missense_Mutation_p.V1132M|ATP13A2_uc001bac.2_Missense_Mutation_p.R1036H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1137	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGGTCTAGCACGCTCTGCAAA	0.701000												
PLA2G2A	5320	broad.mit.edu	37	1	20304940	20304940	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:20304940T>C	uc001bcu.2	-	3	336	c.118A>G	c.(118-120)AGT>GGT	p.S40G	PLA2G2A_uc001bcv.2_Missense_Mutation_p.S40G|PLA2G2A_uc010oda.1_Missense_Mutation_p.S40G|PLA2G2A_uc010odb.1_Missense_Mutation_p.S40G	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	phospholipase A2, group IIA precursor	40					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCATAACTGAGTGCGGCT	0.547000												
PINK1	65018	broad.mit.edu	37	1	20975501	20975501	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:20975501G>A	uc001bdm.2	+	7	1359	c.1265G>A	c.(1264-1266)CGT>CAT	p.R422H	PINK1_uc001bdn.2_Missense_Mutation_p.R115H	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	422	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCACGGCCCGTCCTGGCCCC	0.577000												
SRRM1	10250	broad.mit.edu	37	1	24981444	24981444	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:24981444G>A	uc001bjm.2	+	9	1363	c.1139G>A	c.(1138-1140)AGC>AAC	p.S380N	SRRM1_uc010oel.1_Missense_Mutation_p.S380N|SRRM1_uc009vrh.1_Missense_Mutation_p.S341N|SRRM1_uc009vri.1_Missense_Mutation_p.S297N|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	380	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGGACATCCAGCCCCCCTCGG	0.542000												
MAN1C1	57134	broad.mit.edu	37	1	26104703	26104703	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:26104703C>T	uc001bkm.2	+	9	1695	c.1365C>T	c.(1363-1365)TCC>TCT	p.S455S	MAN1C1_uc009vry.1_Silent_p.S275S|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	455	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTGTTTCTCCGGGGGCATGA	0.607000												
CATSPER4	378807	broad.mit.edu	37	1	26526548	26526548	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:26526548A>G	uc010oez.1	+	7	986	c.986A>G	c.(985-987)GAG>GGG	p.E329G	CATSPER4_uc010oey.1_Missense_Mutation_p.E151G|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	329	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTTAGTGAGGTGCGTGGG	0.502000												
EIF2C3	192669	broad.mit.edu	37	1	36474379	36474379	+	Splice_Site	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:36474379G>A	uc001bzp.2	+	7	1137	c.881_splice	c.e7+1	p.T294_splice	EIF2C3_uc001bzq.2_Splice_Site_p.T60_splice	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3						mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTCATCAAACGTAAGAAAAGT	0.448000												
EIF2C3	192669	broad.mit.edu	37	1	36505946	36505946	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:36505946C>T	uc001bzp.2	+	16	2332	c.2076C>T	c.(2074-2076)TGC>TGT	p.C692C	EIF2C3_uc001bzq.2_Silent_p.C458C	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	692	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGAAGCCTGCATCAGTTTGG	0.338000												
CSF3R	1441	broad.mit.edu	37	1	36940984	36940984	+	Missense_Mutation	SNP	C	C	T	rs142999683	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:36940984C>T	uc001caw.1	-	4	533	c.355G>A	c.(355-357)GCA>ACA	p.A119T	CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.A119T|CSF3R_uc001cax.1_Missense_Mutation_p.A119T|CSF3R_uc001cay.1_Missense_Mutation_p.A119T	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	119	Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTACAGCCTGCGCGCAGCTCA	0.483000												
HPCAL4	51440	broad.mit.edu	37	1	40149704	40149704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:40149704C>T	uc001cdr.2	-	3	403	c.283G>A	c.(283-285)GGC>AGC	p.G95S	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	95	EF-hand 2.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCGAAGCTGCCGCGGGAGGTG	0.632000												
SMAP2	64744	broad.mit.edu	37	1	40879887	40879887	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:40879887G>A	uc001cfj.2	+	6	611	c.546G>A	c.(544-546)GCG>GCA	p.A182A	SMAP2_uc010ojh.1_Silent_p.A182A|SMAP2_uc001cfk.2_Silent_p.A152A|SMAP2_uc010oji.1_Silent_p.A99A|SMAP2_uc010ojj.1_5'UTR	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	182	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AATCCACAGCGCCTGTCATGG	0.423000												
HIVEP3	59269	broad.mit.edu	37	1	41978959	41978959	+	Missense_Mutation	SNP	C	C	T	rs144265546		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:41978959C>T	uc001cgz.3	-	8	7146	c.5933G>A	c.(5932-5934)CGT>CAT	p.R1978H	HIVEP3_uc001cha.3_Missense_Mutation_p.R1978H|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1978					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)				TAGTGGTGGACGGCTGCCTGC	0.612000												
TIE1	7075	broad.mit.edu	37	1	43770628	43770628	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:43770628C>T	uc001ciu.2	+	2	244	c.165C>T	c.(163-165)GAC>GAT	p.D55D	TIE1_uc010okd.1_Silent_p.D55D|TIE1_uc010oke.1_Silent_p.D10D|TIE1_uc009vwq.2_Silent_p.D55D|TIE1_uc010okf.1_Translation_Start_Site|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Silent_p.D55D|TIE1_uc010okb.1_Silent_p.D55D|TIE1_uc010okc.1_Silent_p.D55D	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	55	Extracellular (Potential).|Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGCTCGGACGCCTGGGGCC	0.736000												
ST3GAL3	6487	broad.mit.edu	37	1	44386577	44386577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:44386577G>A	uc001ckc.2	+	11	1192	c.1015G>A	c.(1015-1017)GTT>ATT	p.V339I	ST3GAL3_uc001cjz.2_Missense_Mutation_p.V354I|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.V408I|ST3GAL3_uc001ckd.2_Missense_Mutation_p.V393I|ST3GAL3_uc001cke.2_Missense_Mutation_p.V323I|ST3GAL3_uc001ckf.2_Missense_Mutation_p.V377I|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Missense_Mutation_p.V309I|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.V308I|ST3GAL3_uc009vwy.2_Missense_Mutation_p.V245I|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.V113I|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.V126I|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	339	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CTATGAGACCGTTCGCATGGC	0.582000												
KIF2C	11004	broad.mit.edu	37	1	45226082	45226082	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:45226082G>A	uc001cmg.3	+	15	1613	c.1498G>A	c.(1498-1500)GCG>ACG	p.A500T	KIF2C_uc010olb.1_Missense_Mutation_p.A459T|KIF2C_uc010olc.1_Missense_Mutation_p.A387T|KIF2C_uc001cmh.3_Missense_Mutation_p.A446T	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	500	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGAGCGAGGCGCGGACACTTC	0.557000												
BTF3L4	91408	broad.mit.edu	37	1	52530502	52530502	+	Silent	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:52530502A>C	uc001ctk.2	+	3	268	c.60A>C	c.(58-60)ACA>ACC	p.T20T	BTF3L4_uc001ctl.2_5'UTR|BTF3L4_uc010onh.1_RNA|BTF3L4_uc001ctm.2_Silent_p.T20T	NM_152265	NP_689478	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4 isoform 1	20										large_intestine(1)	1						TTCAGGGTACAGCTCGCAGAA	0.408000												
LRP8	7804	broad.mit.edu	37	1	53741403	53741403	+	Silent	SNP	G	G	A	rs141574960	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:53741403G>A	uc001cvi.1	-	6	1048	c.906C>T	c.(904-906)GAC>GAT	p.D302D	LRP8_uc001cvh.1_Translation_Start_Site|LRP8_uc001cvk.1_Intron|LRP8_uc001cvj.1_Silent_p.D302D|LRP8_uc001cvl.1_Silent_p.D173D	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	302	LDL-receptor class A 7.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						ACTGGAACTCGTCCCCACGGC	0.592000												
ROR1	4919	broad.mit.edu	37	1	64515460	64515460	+	Silent	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:64515460C>A	uc001dbj.2	+	3	660	c.261C>A	c.(259-261)CCC>CCA	p.P87P	ROR1_uc001dbi.3_Silent_p.P87P	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	87	Ig-like C2-type.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						ATCCACCTCCCACCATCCGCT	0.542000												
SLC35D1	23169	broad.mit.edu	37	1	67470100	67470100	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:67470100T>C	uc001ddk.2	-	12	1375	c.991A>G	c.(991-993)ACT>GCT	p.T331A		NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	331					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)	TCAGTGAAAGTGATATAGGAA	0.448000												
C1orf141	400757	broad.mit.edu	37	1	67558998	67558998	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:67558998T>C	uc001ddl.1	-	7	1004	c.893A>G	c.(892-894)AAG>AGG	p.K298R	C1orf141_uc001ddm.1_Missense_Mutation_p.K298R|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	298										ovary(1)	1						AGTTTTCTTCTTTAGTTTATC	0.343000												
FUBP1	8880	broad.mit.edu	37	1	78430841	78430841	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:78430841G>A	uc001dii.2	-	8	637	c.548C>T	c.(547-549)CCG>CTG	p.P183L	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.P204L	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	183					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						TGCATTTCCCGGTCCATCGCC	0.403000												
DDAH1	23576	broad.mit.edu	37	1	85816154	85816154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:85816154C>T	uc001dlb.2	-	4	702	c.541G>A	c.(541-543)GCT>ACT	p.A181T	DDAH1_uc001dlc.2_Missense_Mutation_p.A78T|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.A81T|DDAH1_uc009wco.2_Missense_Mutation_p.A78T	NM_012137	NP_036269	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	181					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding				0				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTAGGCCCAGCCATGCTGCAG	0.468000												
PKN2	5586	broad.mit.edu	37	1	89298759	89298759	+	Splice_Site	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:89298759G>A	uc001dmn.2	+	21	3013	c.2671_splice	c.e21-1	p.L891_splice	PKN2_uc010osp.1_Splice_Site_p.L875_splice|PKN2_uc010osq.1_Splice_Site_p.L734_splice|PKN2_uc009wcv.2_Splice_Site_p.L843_splice|PKN2_uc010osr.1_Splice_Site_p.L556_splice	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2						signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CATTATGCTAGCTGTTAAGAA	0.308000												
LRRC8B	23507	broad.mit.edu	37	1	90048782	90048782	+	Silent	SNP	G	G	A	rs114525158	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:90048782G>A	uc001dni.2	+	7	1080	c.573G>A	c.(571-573)TCG>TCA	p.S191S	LRRC8B_uc001dnh.2_Silent_p.S191S|LRRC8B_uc001dnj.2_Silent_p.S191S	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	191						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTTTGCTTTCGTCCTCAGGGT	0.527000												
AGL	178	broad.mit.edu	37	1	100342155	100342155	+	Splice_Site	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:100342155T>C	uc001dsi.1	+	11	1823	c.1423_splice	c.e11+2	p.G475_splice	AGL_uc001dsj.1_Splice_Site_p.G475_splice|AGL_uc001dsk.1_Splice_Site_p.G475_splice|AGL_uc001dsl.1_Splice_Site_p.G475_splice|AGL_uc001dsm.1_Splice_Site_p.G459_splice|AGL_uc001dsn.1_Splice_Site_p.G458_splice	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGAACCGGGTATGTAATTTT	0.378000												
S1PR1	1901	broad.mit.edu	37	1	101704655	101704655	+	Missense_Mutation	SNP	G	G	A	rs140298731		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:101704655G>A	uc001dud.2	+	2	629	c.115G>A	c.(115-117)GCG>ACG	p.A39T	S1PR1_uc009weg.2_Missense_Mutation_p.A39T	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	39	Extracellular (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						GAATATCAGCGCGGACAAGGA	0.498000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COL11A1	1301	broad.mit.edu	37	1	103379956	103379956	+	Silent	SNP	A	A	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:103379956A>T	uc001dul.2	-	52	4248	c.3930T>A	c.(3928-3930)CCT>CCA	p.P1310P	COL11A1_uc001duk.2_Silent_p.P506P|COL11A1_uc001dum.2_Silent_p.P1322P|COL11A1_uc001dun.2_Silent_p.P1271P|COL11A1_uc009weh.2_Silent_p.P1194P	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1310	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAAAACCAACAGGACCCTAGA	0.353000												
CLCC1	23155	broad.mit.edu	37	1	109479933	109479933	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109479933C>A	uc001dwe.1	-	10	1241	c.1149G>T	c.(1147-1149)GAG>GAT	p.E383D	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.E383D|CLCC1_uc001dwg.1_Missense_Mutation_p.E333D|CLCC1_uc009wes.1_Missense_Mutation_p.E262D|CLCC1_uc009wet.1_Missense_Mutation_p.E198D	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	383						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AATCAATTTCCTCCTGCCGTC	0.527000												
WDR47	22911	broad.mit.edu	37	1	109553736	109553736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109553736C>T	uc001dwj.2	-	5	1308	c.932G>A	c.(931-933)CGC>CAC	p.R311H	WDR47_uc001dwl.2_Missense_Mutation_p.R318H|WDR47_uc001dwi.2_Missense_Mutation_p.R311H|WDR47_uc001dwk.2_Missense_Mutation_p.R283H|WDR47_uc010ovf.1_Missense_Mutation_p.R238H	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	311										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTCAGAGAGCGGGTCATATA	0.453000												
CELSR2	1952	broad.mit.edu	37	1	109794579	109794579	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109794579C>T	uc001dxa.3	+	1	1939	c.1878C>T	c.(1876-1878)GGC>GGT	p.G626G		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	626	Cadherin 5.|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)		CAGCTGTGGGCACCAGCGTGG	0.547000												
CELSR2	1952	broad.mit.edu	37	1	109804465	109804465	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109804465G>A	uc001dxa.3	+	5	4394	c.4333G>A	c.(4333-4335)GGA>AGA	p.G1445R		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1445	Extracellular (Potential).|Laminin G-like 1.				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)		ATTCGTGCCCGGAGGAGTCAG	0.592000												
MOV10	4343	broad.mit.edu	37	1	113241375	113241375	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:113241375G>A	uc001eck.2	+	17	2817	c.2547G>A	c.(2545-2547)AGG>AGA	p.R849R	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.R849R|MOV10_uc001ecm.2_Silent_p.R789R	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	849					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AACTTGACAGGGAGCTTCGAG	0.542000												
WDR3	10885	broad.mit.edu	37	1	118499758	118499758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:118499758G>A	uc010oxe.1	+	25	2587	c.2521G>A	c.(2521-2523)GAA>AAA	p.E841K	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	841						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ACTCTTTAACGAATTCATTCA	0.388000												
PPIAL4G	644591	broad.mit.edu	37	1	143767741	143767741	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:143767741A>G	uc001ejt.2	-	1	141	c.108T>C	c.(106-108)TTT>TTC	p.F36F		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	36	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						TCAGAGCACGAAAGTTTTCTG	0.473000												
PIAS3	10401	broad.mit.edu	37	1	145584029	145584029	+	Silent	SNP	G	G	A	rs147716144		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:145584029G>A	uc001eoc.1	+	10	1351	c.1260G>A	c.(1258-1260)CCG>CCA	p.P420P	NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Silent_p.P89P	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	420					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTGCCCCCCGCCAGGGTATG	0.507000												
TARS2	80222	broad.mit.edu	37	1	150460423	150460423	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:150460423C>T	uc001euq.2	+	2	163	c.156C>T	c.(154-156)AGC>AGT	p.S52S	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Silent_p.S52S|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Silent_p.S52S	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	52					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GATTAGCAAGCATGGCACAGA	0.547000												
SELENBP1	8991	broad.mit.edu	37	1	151338267	151338267	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:151338267C>T	uc001exx.2	-	8	946	c.899G>A	c.(898-900)GGC>GAC	p.G300D	SELENBP1_uc010pcy.1_Missense_Mutation_p.G342D|SELENBP1_uc001exy.2_Missense_Mutation_p.G197D|SELENBP1_uc001exz.2_Missense_Mutation_p.G197D|SELENBP1_uc010pcz.1_Missense_Mutation_p.G238D|SELENBP1_uc009wms.2_Missense_Mutation_p.G136D|SELENBP1_uc009wmt.2_Missense_Mutation_p.G197D|SELENBP1_uc001eya.2_Missense_Mutation_p.G236D|SELENBP1_uc009wmu.2_Missense_Mutation_p.G197D	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	300					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCAGCCAGCCCTTCACTTT	0.567000												
POGZ	23126	broad.mit.edu	37	1	151400802	151400802	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:151400802G>T	uc001eyd.1	-	6	962	c.656C>A	c.(655-657)CCT>CAT	p.P219H	POGZ_uc001eye.1_Missense_Mutation_p.P166H|POGZ_uc010pdb.1_Missense_Mutation_p.P219H|POGZ_uc001eyf.1_Missense_Mutation_p.P166H|POGZ_uc010pdc.1_Missense_Mutation_p.P166H|POGZ_uc009wmv.1_Missense_Mutation_p.P124H|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Missense_Mutation_p.P219H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	219					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCTCACAGGCATTGTGGA	0.567000												
TCHH	7062	broad.mit.edu	37	1	152080396	152080396	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:152080396C>T	uc001ezp.2	-	2	5297	c.5297G>A	c.(5296-5298)CGC>CAC	p.R1766H	TCHH_uc009wne.1_Missense_Mutation_p.R1766H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1766	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCTCCTGGCGGCGCAGCTG	0.587000												
HRNR	388697	broad.mit.edu	37	1	152188175	152188175	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:152188175C>T	uc001ezt.1	-	3	6006	c.5930G>A	c.(5929-5931)CGT>CAT	p.R1977H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1977	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATATGGGCCACGGCTGGAAGA	0.602000												
FLG	2312	broad.mit.edu	37	1	152285028	152285028	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:152285028G>A	uc001ezu.1	-	3	2370	c.2334C>T	c.(2332-2334)TCC>TCT	p.S778S	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	778	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCACGTGCGGACTCTTGGT	0.567000									Ichthyosis			
SPRR1B	6699	broad.mit.edu	37	1	153004968	153004968	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:153004968C>T	uc001fba.2	+	2	211	c.147C>T	c.(145-147)TGC>TGT	p.C49C	SPRR1B_uc009wnx.1_RNA	NM_003125	NP_003116	P22528	SPR1B_HUMAN	small proline-rich protein 1B	49	6 X 8 AA approximate tandem repeats.|3.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCCTGCCACCCCAAAG	0.632000												
RAG1AP1	55974	broad.mit.edu	37	1	155108811	155108811	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:155108811G>T	uc001fhj.3	+	2	217	c.117G>T	c.(115-117)GTG>GTT	p.V39V	RAG1AP1_uc010pey.1_RNA|RAG1AP1_uc001fhk.3_Nonsense_Mutation_p.G26*|RAG1AP1_uc001fhl.3_Silent_p.V39V	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	recombination activating gene 1 activating	39	MtN3/slv 1.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCGGAGTGTGGACAACGTCC	0.647000												
DPM3	54344	broad.mit.edu	37	1	155112444	155112444	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:155112444G>A	uc001fhn.2	-	2	308	c.273C>T	c.(271-273)CGC>CGT	p.R91R	RAG1AP1_uc010pey.1_Intron|DPM3_uc001fhm.2_Silent_p.R121R	NM_153741	NP_714963	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase	91					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGTCAGAAGCGCAGCCCCC	0.552000												
CLK2	1196	broad.mit.edu	37	1	155233068	155233068	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:155233068G>A	uc001fjy.2	-	13	1731	c.1441C>T	c.(1441-1443)CGC>TGC	p.R481C	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R480C|CLK2_uc001fjx.2_Missense_Mutation_p.R253C|CLK2_uc009wqm.2_Missense_Mutation_p.R481C	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	481						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCGAAGGCGGGCGAAGAAA	0.567000								Other_conserved_DNA_damage_response_genes				
ASH1L	55870	broad.mit.edu	37	1	155448699	155448699	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:155448699C>T	uc009wqq.2	-	3	4442	c.3962G>A	c.(3961-3963)CGA>CAA	p.R1321Q	ASH1L_uc001fkt.2_Missense_Mutation_p.R1321Q|ASH1L_uc009wqr.1_Missense_Mutation_p.R1321Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1321					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAAGTTGATTCGAAAGATAGT	0.408000												
CD5L	922	broad.mit.edu	37	1	157804523	157804523	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:157804523A>G	uc001frk.3	-	4	535	c.392T>C	c.(391-393)TTC>TCC	p.F131S		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	131					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACTGGGGAGAAAGAGCTCTC	0.572000												
SPTA1	6708	broad.mit.edu	37	1	158609686	158609686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:158609686G>A	uc001fst.1	-	34	5048	c.4849C>T	c.(4849-4851)CGG>TGG	p.R1617W		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1617	Spectrin 16.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCAAAGTCCCGGATGCTTGTG	0.448000												
KCNJ9	3765	broad.mit.edu	37	1	160053937	160053937	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:160053937C>T	uc001fuy.1	+	2	359	c.117C>T	c.(115-117)CGC>CGT	p.R39R		NM_004983	NP_004974	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel subfamily	39	Cytoplasmic (By similarity).				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			ovary(1)|skin(1)	2	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAACGTGCGCGAGACATACC	0.582000												
FCRLB	127943	broad.mit.edu	37	1	161697260	161697260	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:161697260G>A	uc001gbh.2	+	8	1323	c.1089G>A	c.(1087-1089)TCG>TCA	p.S363S	FCRLB_uc009wus.2_Silent_p.S363S|FCRLB_uc001gbj.2_Missense_Mutation_p.R315Q|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Missense_Mutation_p.R308Q|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.S363S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	363						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGGAACAATCGGCTGGAGCCC	0.672000												
MGST3	4259	broad.mit.edu	37	1	165624622	165624622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:165624622C>T	uc001gdf.2	+	6	428	c.340C>T	c.(340-342)CGA>TGA	p.R114*	MGST3_uc001gdg.2_Nonsense_Mutation_p.R128*	NM_004528	NP_004519	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	114					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	CAAGCGTAGTCGAGGAGCCCT	0.512000												
SCYL3	57147	broad.mit.edu	37	1	169828337	169828337	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:169828337C>T	uc001ggs.2	-	11	1355	c.1157G>A	c.(1156-1158)CGT>CAT	p.R386H	SCYL3_uc010plw.1_Missense_Mutation_p.R32H|SCYL3_uc001ggt.2_Missense_Mutation_p.R386H|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	386	HEAT 4.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTAGTATCACGCAGGCCCAG	0.488000												
TNN	63923	broad.mit.edu	37	1	175049336	175049336	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:175049336G>A	uc001gkl.1	+	4	935	c.822G>A	c.(820-822)ACG>ACA	p.T274T	TNN_uc010pmx.1_Silent_p.T274T	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	274	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCAAGAACACGGAGGATTCTC	0.617000												
TNR	7143	broad.mit.edu	37	1	175355234	175355234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:175355234C>T	uc001gkp.1	-	6	1792	c.1711G>A	c.(1711-1713)GAG>AAG	p.E571K	TNR_uc009wwu.1_Missense_Mutation_p.E571K	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	571	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACTGACACCTCGTATCGGGAG	0.637000												
RFWD2	64326	broad.mit.edu	37	1	175956141	175956141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:175956141G>A	uc001gku.1	-	18	2327	c.2071C>T	c.(2071-2073)CGA>TGA	p.R691*	RFWD2_uc001gkv.1_Nonsense_Mutation_p.R667*|RFWD2_uc001gkw.1_Nonsense_Mutation_p.R451*|RFWD2_uc009wwv.2_Nonsense_Mutation_p.R490*|RFWD2_uc001gkt.1_Nonsense_Mutation_p.R530*	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	691	WD 7.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TCTTCTTTTCGGTCTTTGTCG	0.373000												
TDRD5	163589	broad.mit.edu	37	1	179620047	179620047	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:179620047G>A	uc001gnf.1	+	12	2096	c.1846G>A	c.(1846-1848)GGT>AGT	p.G616S	TDRD5_uc010pnp.1_Missense_Mutation_p.G616S|TDRD5_uc001gnh.1_Missense_Mutation_p.G171S	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	616					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						GAAGTTGTGCGGTTTGAAGCC	0.368000												
CACNA1E	777	broad.mit.edu	37	1	181741306	181741306	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:181741306G>A	uc001gow.2	+	37	5243	c.5078G>A	c.(5077-5079)CGC>CAC	p.R1693H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1581H|CACNA1E_uc001gox.1_Missense_Mutation_p.R919H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R919H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1693	Extracellular (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GAGAACGAACGCTGCGGCACC	0.557000												
GLUL	2752	broad.mit.edu	37	1	182354926	182354926	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:182354926G>A	uc001gpa.1	-	5	784	c.572C>T	c.(571-573)GCG>GTG	p.A191V	GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.A191V|GLUL_uc001gpc.1_Missense_Mutation_p.A191V|GLUL_uc001gpd.1_Missense_Mutation_p.A191V	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	191					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	ATTAGTCCCCGCAATCTTGAC	0.522000												
RGL1	23179	broad.mit.edu	37	1	183885736	183885736	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:183885736G>A	uc001gqo.2	+	16	2062	c.1905G>A	c.(1903-1905)TCG>TCA	p.S635S	RGL1_uc001gqm.2_Silent_p.S670S|RGL1_uc010pog.1_Silent_p.S633S|RGL1_uc010poh.1_Silent_p.S633S|RGL1_uc010poi.1_Silent_p.S606S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	635					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						CCATTACCTCGACTGTGCTGC	0.507000												
TPR	7175	broad.mit.edu	37	1	186326586	186326586	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:186326586G>A	uc001grv.2	-	14	1964	c.1667C>T	c.(1666-1668)GCC>GTC	p.A556V	TPR_uc010pop.1_Missense_Mutation_p.A632V	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	556	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCTCTAAGGGCCACTAAGAG	0.378000			T	NTRK1	papillary thyroid							
C1orf27	54953	broad.mit.edu	37	1	186368101	186368101	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:186368101A>G	uc001grw.2	+	11	1161	c.925A>G	c.(925-927)ATA>GTA	p.I309V	C1orf27_uc010poq.1_Missense_Mutation_p.I286V|C1orf27_uc010por.1_Missense_Mutation_p.I277V|OCLM_uc001gry.2_5'Flank	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	309						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1						AAAGAGGGATATATTGAACAC	0.274000												
FAM5C	339479	broad.mit.edu	37	1	190067835	190067835	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:190067835C>T	uc001gse.1	-	8	1846	c.1614G>A	c.(1612-1614)AAG>AAA	p.K538K	FAM5C_uc010pot.1_Silent_p.K436K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	538						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					ACTTATTGCTCTTCAAGGTGA	0.443000												
KCNT2	343450	broad.mit.edu	37	1	196300297	196300297	+	Silent	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:196300297T>G	uc001gtd.1	-	18	2152	c.2092A>C	c.(2092-2094)AGA>CGA	p.R698R	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.R648R|KCNT2_uc001gtf.1_Silent_p.R698R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.R698R|KCNT2_uc001gth.1_Silent_p.R219R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	698	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTGTCTAATCTTAAGCAGCAA	0.299000												
ZBTB41	360023	broad.mit.edu	37	1	197128758	197128758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:197128758G>A	uc001gtx.1	-	10	2530	c.2461C>T	c.(2461-2463)CCG>TCG	p.P821S	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGGTCACTCGGAGTGTCAGGC	0.478000												
CACNA1S	779	broad.mit.edu	37	1	201022686	201022686	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:201022686G>A	uc001gvv.2	-	30	3923	c.3696C>T	c.(3694-3696)AGC>AGT	p.S1232S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1232	IV.|Helical; Name=S4 of repeat IV; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGAAGAAGGCGCTGGAGATGC	0.642000												
IPO9	55705	broad.mit.edu	37	1	201817694	201817694	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:201817694C>T	uc001gwz.2	+	4	536	c.486C>T	c.(484-486)GCC>GCT	p.A162A		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	162					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						ACTTAAATGCCGTCCATGGAG	0.532000												
GPR37L1	9283	broad.mit.edu	37	1	202097070	202097070	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:202097070C>A	uc001gxj.2	+	2	895	c.832C>A	c.(832-834)CCC>ACC	p.P278T		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	278	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						GGAGCCTGCCCCCACCATGGG	0.617000												
SLC45A3	85414	broad.mit.edu	37	1	205632446	205632446	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:205632446C>T	uc001hda.1	-	3	812	c.473G>A	c.(472-474)CGC>CAC	p.R158H	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	158					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTAGGCCTGGCGACAGTGGTC	0.637000			T	ETV1|ETV5|ELK4|ERG	prostate 							
IRF6	3664	broad.mit.edu	37	1	209961960	209961960	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:209961960G>A	uc001hhq.1	-	9	1472	c.1209C>T	c.(1207-1209)TAC>TAT	p.Y403Y	IRF6_uc010psm.1_Silent_p.Y308Y|IRF6_uc009xct.1_Silent_p.Y403Y	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	403					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AAAACATCTCGTAGATCATCC	0.463000										HNSCC(57;0.16)		
SPATA17	128153	broad.mit.edu	37	1	217975157	217975157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:217975157C>T	uc001hlh.1	+	9	996	c.970C>T	c.(970-972)CGA>TGA	p.R324*	SPATA17_uc001hli.2_Nonsense_Mutation_p.R324*	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	324						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAACAATTCCGAAGTGAAAA	0.294000												
TAF1A	9015	broad.mit.edu	37	1	222750877	222750877	+	Missense_Mutation	SNP	G	G	A	rs148113527	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:222750877G>A	uc009xdz.1	-	5	703	c.514C>T	c.(514-516)CGG>TGG	p.R172W	TAF1A_uc001hni.1_Missense_Mutation_p.R58W|TAF1A_uc001hnj.2_Missense_Mutation_p.R172W|TAF1A_uc001hnk.2_Missense_Mutation_p.R58W|TAF1A_uc010pur.1_Missense_Mutation_p.R172W	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		AATATTTCCCGGGAAGACGTA	0.383000												
LBR	3930	broad.mit.edu	37	1	225598070	225598070	+	Missense_Mutation	SNP	G	G	A	rs144672633	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:225598070G>A	uc001hoy.2	-	10	1380	c.1237C>T	c.(1237-1239)CGC>TGC	p.R413C	LBR_uc001hoz.2_Missense_Mutation_p.R413C|LBR_uc001hpa.1_Missense_Mutation_p.R413C	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	413					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGAACAGCGCGGTCCTGTATT	0.348000												
ACBD3	64746	broad.mit.edu	37	1	226349293	226349293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:226349293G>A	uc001hpy.2	-	4	714	c.667C>T	c.(667-669)CGA>TGA	p.R223*		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	223	Arg-rich.|Potential.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tcctcccgtcgaagcctttcc	0.095000												
PARP1	142	broad.mit.edu	37	1	226568840	226568840	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:226568840G>A	uc001hqd.3	-	9	1400	c.1229C>T	c.(1228-1230)GCC>GTC	p.A410V		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	410	Automodification domain.|BRCT.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTCAATCATGGCCTTCACTTC	0.493000								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
OBSCN	84033	broad.mit.edu	37	1	228509573	228509573	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:228509573G>T	uc009xez.1	+	55	15075	c.15031G>T	c.(15031-15033)GCC>TCC	p.A5011S	OBSCN_uc001hsn.2_Missense_Mutation_p.A5011S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5011					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCGCCGGGCTGCCCGTCGGCT	0.637000												
ABCB10	23456	broad.mit.edu	37	1	229685004	229685004	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:229685004C>T	uc001htp.3	-	2	738	c.695G>A	c.(694-696)CGT>CAT	p.R232H		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	232	Mitochondrial intermembrane (Potential).|Helical; (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGGTAGACACGAATGGCATT	0.527000												
DISC1	27185	broad.mit.edu	37	1	231902976	231902976	+	Silent	SNP	G	G	A	rs144844117		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:231902976G>A	uc001huz.2	+	5	1412	c.1359G>A	c.(1357-1359)ACG>ACA	p.T453T	TSNAX-DISC1_uc010pwg.1_Silent_p.T442T|TSNAX-DISC1_uc010pwh.1_Silent_p.T408T|TSNAX-DISC1_uc010pwi.1_Silent_p.T408T|TSNAX-DISC1_uc010pwj.1_Silent_p.T442T|TSNAX-DISC1_uc010pwk.1_Silent_p.T442T|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Silent_p.T453T|DISC1_uc010pwr.1_Silent_p.T453T|DISC1_uc010pws.1_Silent_p.T453T|DISC1_uc010pwt.1_Silent_p.T453T|DISC1_uc010pwu.1_Silent_p.T103T|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.T453T|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.T453T|DISC1_uc010pxb.1_Silent_p.T453T|DISC1_uc010pxc.1_Silent_p.T453T|DISC1_uc010pxd.1_Silent_p.T98T|DISC1_uc010pxe.1_Silent_p.T453T|DISC1_uc009xfr.2_Silent_p.T408T|DISC1_uc010pxf.1_Silent_p.T453T|DISC1_uc010pxg.1_Silent_p.T453T|DISC1_uc010pxh.1_Silent_p.T485T|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Silent_p.T98T|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Silent_p.T98T|DISC1_uc001hva.2_Silent_p.T453T	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	453	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGTCCATCACGAGACGAGACT	0.463000												
KIAA1383	54627	broad.mit.edu	37	1	232942451	232942451	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:232942451T>C	uc001hvh.2	+	1	1814	c.1682T>C	c.(1681-1683)ATA>ACA	p.I561T		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	419										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CCTGCTCATATACATCCTCAC	0.418000												
KCNK1	3775	broad.mit.edu	37	1	233802686	233802686	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:233802686G>T	uc010pxo.1	+	2	869	c.701G>T	c.(700-702)GGG>GTG	p.G234V	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	234						voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TATGTGCCTGGGGAAGGCTAC	0.443000												
NID1	4811	broad.mit.edu	37	1	236201453	236201453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:236201453G>T	uc001hxo.2	-	5	1338	c.1236C>A	c.(1234-1236)TGC>TGA	p.C412*	NID1_uc009xgd.2_Nonsense_Mutation_p.C412*	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	412	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CGACACAGCTGCAGCAGAAGC	0.537000												
RYR2	6262	broad.mit.edu	37	1	237936847	237936847	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:237936847T>C	uc001hyl.1	+	87	11794	c.11674T>C	c.(11674-11676)TAC>CAC	p.Y3892H	RYR2_uc010pya.1_Missense_Mutation_p.Y307H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3892					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATTGGTATTACTCTGGGAA	0.338000												
CNST	163882	broad.mit.edu	37	1	246755187	246755187	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:246755187T>A	uc001ibp.2	+	2	701	c.323T>A	c.(322-324)ATT>AAT	p.I108N	CNST_uc001ibo.3_Missense_Mutation_p.I108N	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	108					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						GACAAAAAAATTCCTGGAAAA	0.398000												
OR2M7	391196	broad.mit.edu	37	1	248487774	248487774	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:248487774C>T	uc010pzk.1	-	1	97	c.97G>A	c.(97-99)GCC>ACC	p.A33T		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAAGATGGCCAGGACCAGA	0.517000												
ITIH5	80760	broad.mit.edu	37	10	7657997	7657997	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:7657997A>G	uc001ijq.2	-	7	966	c.887T>C	c.(886-888)GTG>GCG	p.V296A	ITIH5_uc001ijp.2_Missense_Mutation_p.V82A|ITIH5_uc001ijr.1_Missense_Mutation_p.V296A	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	296	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CACGAATACCACATTCTTGGG	0.478000												
TAF3	83860	broad.mit.edu	37	10	8005989	8005989	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:8005989T>C	uc010qbd.1	+	3	516	c.516T>C	c.(514-516)GAT>GAC	p.D172D		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	172					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						TTATTAATGATGAGAATTTCC	0.493000												
GATA3	2625	broad.mit.edu	37	10	8100708	8100708	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:8100708G>A	uc001ika.2	+	3	1239	c.682G>A	c.(682-684)GAG>AAG	p.E228K	GATA3_uc001ijz.2_Missense_Mutation_p.E228K	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	228					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CTACGTGCCCGAGTACAGCTC	0.692000			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)					
KIAA1217	56243	broad.mit.edu	37	10	24831889	24831889	+	Silent	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:24831889A>C	uc001iru.3	+	19	4093	c.3690A>C	c.(3688-3690)TCA>TCC	p.S1230S	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.S913S|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.S66S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1230					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CTGATGCATCAAGAACATCAG	0.423000												
ARHGAP21	57584	broad.mit.edu	37	10	24874300	24874300	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:24874300C>T	uc001isb.2	-	26	5405	c.4918G>A	c.(4918-4920)GAG>AAG	p.E1640K	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1639	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						ACGGGAAACTCGCTCTCGCTG	0.547000												
GPR158	57512	broad.mit.edu	37	10	25464572	25464572	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:25464572G>T	uc001isj.2	+	1	283	c.223G>T	c.(223-225)GCC>TCC	p.A75S	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	75	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GCAGAAACTCGCCGAGGAGGT	0.687000												
NRP1	8829	broad.mit.edu	37	10	33475257	33475257	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:33475257C>T	uc001iwx.3	-	14	2745	c.2222G>A	c.(2221-2223)CGC>CAC	p.R741H	NRP1_uc001iwv.3_Missense_Mutation_p.R741H|NRP1_uc009xlz.2_Missense_Mutation_p.R735H|NRP1_uc001iww.3_Missense_Mutation_p.R553H|NRP1_uc001iwy.3_Missense_Mutation_p.R734H	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	741	Extracellular (Potential).|MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTCTGGTAGCGCAGTTTGAC	0.562000												
A1CF	29974	broad.mit.edu	37	10	52596039	52596039	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:52596039C>T	uc001jjj.2	-	6	587	c.399G>A	c.(397-399)GTG>GTA	p.V133V	A1CF_uc010qhn.1_Silent_p.V141V|A1CF_uc001jji.2_Silent_p.V133V|A1CF_uc001jjh.2_Silent_p.V141V|A1CF_uc010qho.1_Silent_p.V141V|A1CF_uc009xov.2_Silent_p.V133V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	133	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						GGCAGTTGTCCACACTGGCAC	0.428000												
BICC1	80114	broad.mit.edu	37	10	60588642	60588642	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:60588642C>T	uc001jki.1	+	21	2916	c.2916C>T	c.(2914-2916)GGC>GGT	p.G972G		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	972					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						GTGTCAGTGGCCGCTGGTAGC	0.527000												
CCDC6	8030	broad.mit.edu	37	10	61574410	61574410	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:61574410C>T	uc001jks.3	-	4	1322	c.686G>A	c.(685-687)CGA>CAA	p.R229Q		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	229	5.|5 X 29 AA tandem repeats.|Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		CTAAACAAACCGCTTTTCAGC	0.378000												
ANK3	288	broad.mit.edu	37	10	61965576	61965576	+	Missense_Mutation	SNP	C	C	T	rs139379111	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:61965576C>T	uc001jky.2	-	11	1459	c.1267G>A	c.(1267-1269)GGT>AGT	p.G423S	ANK3_uc010qih.1_Missense_Mutation_p.G406S|ANK3_uc001jkz.3_Missense_Mutation_p.G417S|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Missense_Mutation_p.G84S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	423	ANK 11.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ATGGATGCACCGTGTTTCAGA	0.393000												
HK1	3098	broad.mit.edu	37	10	71128991	71128991	+	Splice_Site	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:71128991A>G	uc001jpl.3	+	6	693	c.592_splice	c.e6-2	p.D198_splice	HK1_uc001jpg.3_Splice_Site_p.D186_splice|HK1_uc001jph.3_Splice_Site_p.D202_splice|HK1_uc001jpi.3_Splice_Site_p.D202_splice|HK1_uc001jpj.3_Splice_Site_p.D233_splice|HK1_uc001jpk.3_Splice_Site_p.D197_splice|HK1_uc009xqd.2_Splice_Site_p.D76_splice	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI						glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATCTGTCCCCAGGACTATGAT	0.532000												
SPOCK2	9806	broad.mit.edu	37	10	73848012	73848012	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:73848012G>A	uc001jso.1	-	1	520	c.75C>T	c.(73-75)GAC>GAT	p.D25D	SPOCK2_uc001jsp.2_Silent_p.D25D|SPOCK2_uc010qjs.1_Silent_p.D25D|SPOCK2_uc010qjt.1_Silent_p.D25D	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	25					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0						GCCCCTTGGCGTCGCCTTCGG	0.692000												
BTAF1	9044	broad.mit.edu	37	10	93719750	93719750	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:93719750C>T	uc001khr.2	+	11	1200	c.1102C>T	c.(1102-1104)CGT>TGT	p.R368C	BTAF1_uc001khs.1_Missense_Mutation_p.R38C	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	368					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				GGCACCAGTTCGTGAAACTTG	0.368000												
PIK3AP1	118788	broad.mit.edu	37	10	98469729	98469729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:98469729C>A	uc001kmq.2	-	2	153	c.25G>T	c.(25-27)GGA>TGA	p.G9*		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	9						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ATGTCGCATCCTCTGGGCACC	0.587000												
LOXL4	84171	broad.mit.edu	37	10	100022589	100022589	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:100022589G>A	uc001kpa.1	-	2	339	c.188C>T	c.(187-189)GCT>GTT	p.A63V		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	63	SRCR 1.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CTCCTGGATAGCAAAGTTGTC	0.647000											OREG0020428	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMEM180	79847	broad.mit.edu	37	10	104233735	104233735	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:104233735G>A	uc001kvt.2	+	9	1476	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P	TMEM180_uc010qql.1_Silent_p.P148P|TMEM180_uc010qqm.1_Silent_p.P268P	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	419	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTTTGCCCCGCTGCTGGGCA	0.622000												
C10orf26	54838	broad.mit.edu	37	10	104572451	104572451	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:104572451A>T	uc001kwe.3	+	4	652	c.392A>T	c.(391-393)CAG>CTG	p.Q131L	C10orf26_uc001kwf.3_Missense_Mutation_p.Q152L|C10orf26_uc009xxg.1_Intron	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	131	Pro-rich.					integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGCAGCAGCAGCTGCTGCCT	0.607000												
SORCS3	22986	broad.mit.edu	37	10	106899179	106899179	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:106899179T>C	uc001kyi.1	+	8	1464	c.1237T>C	c.(1237-1239)TAC>CAC	p.Y413H		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	413	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGAGCCAGCTACTACGTGTC	0.483000												
SMC3	9126	broad.mit.edu	37	10	112361533	112361533	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:112361533G>A	uc001kze.2	+	24	2909	c.2783G>A	c.(2782-2784)CGG>CAG	p.R928Q		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	928					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATGACAAATCGGCAAGGCATG	0.388000												
ABLIM1	3983	broad.mit.edu	37	10	116203811	116203811	+	Missense_Mutation	SNP	C	C	T	rs138272125	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:116203811C>T	uc010qsg.1	-	17	2009	c.1910G>A	c.(1909-1911)CGC>CAC	p.R637H	ABLIM1_uc010qsh.1_Missense_Mutation_p.R605H|ABLIM1_uc010qsi.1_Missense_Mutation_p.R577H|ABLIM1_uc010qsk.1_Missense_Mutation_p.R514H|ABLIM1_uc009xyp.2_Missense_Mutation_p.R601H|ABLIM1_uc010qsf.1_Missense_Mutation_p.R314H|ABLIM1_uc009xyn.2_Missense_Mutation_p.R253H|ABLIM1_uc010qsj.1_Missense_Mutation_p.R232H|ABLIM1_uc009xyo.2_Missense_Mutation_p.R450H	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	637					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGAATCGTAGCGACTGGCTAA	0.493000												
PRLHR	2834	broad.mit.edu	37	10	120353838	120353838	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:120353838C>T	uc001ldp.1	-	2	1058	c.919G>A	c.(919-921)GCC>ACC	p.A307T		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	307	Extracellular (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGGTCGATGGCGTGGGGGTCG	0.647000												
BAG3	9531	broad.mit.edu	37	10	121431767	121431767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:121431767C>T	uc001lem.2	+	3	814	c.508C>T	c.(508-510)CGG>TGG	p.R170W	BAG3_uc001lel.2_Missense_Mutation_p.R170W	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	170					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TCTCTTGCAGCGGTCCCAGTC	0.637000												
C10orf119	79892	broad.mit.edu	37	10	121607133	121607133	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:121607133A>G	uc001ler.2	-	8	1117	c.819T>C	c.(817-819)AAT>AAC	p.N273N	C10orf119_uc001leq.1_Silent_p.N100N|C10orf119_uc001les.1_Silent_p.N100N|C10orf119_uc001let.1_Silent_p.N100N	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	chromosome 10 open reading frame 119	273					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding				0		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.0044)		ACCTTTCATCATTATTCAGTA	0.264000												
PLEKHA1	59338	broad.mit.edu	37	10	124172489	124172489	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:124172489T>C	uc001lge.1	+	6	519	c.396T>C	c.(394-396)GGT>GGC	p.G132G	PLEKHA1_uc001lgf.1_Silent_p.G132G|PLEKHA1_uc001lgg.1_Silent_p.G132G|PLEKHA1_uc001lgh.2_Silent_p.G132G	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	132					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCGCCATGGTGAATGTGGGA	0.383000												
ADAM12	8038	broad.mit.edu	37	10	127787041	127787041	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:127787041C>A	uc001ljk.2	-	10	1362	c.949G>T	c.(949-951)GGC>TGC	p.G317C	ADAM12_uc010qul.1_Missense_Mutation_p.G268C|ADAM12_uc001ljm.2_Missense_Mutation_p.G317C|ADAM12_uc001ljn.2_Missense_Mutation_p.G314C|ADAM12_uc001ljl.3_Missense_Mutation_p.G314C	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	317	Extracellular (Potential).|Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGGGCCATGCCGATGGTGGTC	0.453000												
DOCK1	1793	broad.mit.edu	37	10	128904520	128904520	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:128904520C>T	uc001ljt.2	+	24	2472	c.2408C>T	c.(2407-2409)ACG>ATG	p.T803M	DOCK1_uc010qun.1_Missense_Mutation_p.T824M	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	803					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TACTTACCAACGATCGTCAAC	0.473000												
MKI67	4288	broad.mit.edu	37	10	129901620	129901620	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:129901620T>C	uc001lke.2	-	13	8679	c.8484A>G	c.(8482-8484)TCA>TCG	p.S2828S	MKI67_uc001lkf.2_Silent_p.S2468S|MKI67_uc009yav.1_Silent_p.S2403S|MKI67_uc009yaw.1_Silent_p.S1978S	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2828	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTAGTTCTGGTGATGATTTGC	0.483000												
B4GALNT4	338707	broad.mit.edu	37	11	379551	379551	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:379551C>T	uc001lpb.2	+	15	2347	c.2338C>T	c.(2338-2340)CGG>TGG	p.R780W		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	780	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;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)		CGTCTTCCTGCGGCTGCCGGG	0.751000												
PHRF1	57661	broad.mit.edu	37	11	605238	605238	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:605238G>A	uc001lqe.2	+	11	1403	c.1272G>A	c.(1270-1272)GCG>GCA	p.A424A	PHRF1_uc010qwc.1_Silent_p.A424A|PHRF1_uc010qwd.1_Silent_p.A423A|PHRF1_uc010qwe.1_Silent_p.A420A|PHRF1_uc009ybz.1_Silent_p.A215A|PHRF1_uc009yca.1_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	424							RNA polymerase binding|zinc ion binding				0						TGCTGAGAGCGGATATTGGAG	0.602000												
DEAF1	10522	broad.mit.edu	37	11	674759	674759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:674759G>A	uc001lqq.1	-	10	1973	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	427	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGGTGGGACCGCCAGCGCAGG	0.532000												
LRDD	55367	broad.mit.edu	37	11	802748	802748	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:802748C>T	uc001lro.1	-	4	995	c.853G>A	c.(853-855)GCC>ACC	p.A285T	LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.A285T|LRDD_uc001lrl.1_Missense_Mutation_p.A139T|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_Missense_Mutation_p.A139T|LRDD_uc001lrp.1_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	285	LRR 7.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAAAGGGGGCGTCTAGCAGC	0.677000												
CTSD	1509	broad.mit.edu	37	11	1778593	1778593	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:1778593T>C	uc001luc.1	-	5	798	c.665A>G	c.(664-666)AAG>AGG	p.K222R	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	222					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCCACCAGCTTCTGCTGCAT	0.627000												
OR52D1	390066	broad.mit.edu	37	11	5510100	5510100	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:5510100A>G	uc010qzg.1	+	1	164	c.164A>G	c.(163-165)GAC>GGC	p.D55G	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCATGGACAATGCTCTT	0.527000												
PRKCDBP	112464	broad.mit.edu	37	11	6340571	6340571	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:6340571G>A	uc001mcu.1	-	2	642	c.608C>T	c.(607-609)CCG>CTG	p.P203L		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	203											0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGGGTGGGCGGTGGCGCTGC	0.731000												
TEAD1	7003	broad.mit.edu	37	11	12785940	12785940	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:12785940G>A	uc001mkj.3	+	3	781	c.116G>A	c.(115-117)GGG>GAG	p.G39E		NM_021961	NP_068780	P28347	TEAD1_HUMAN	TEA domain family member 1	54	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACCATGTGGGAGGAGGAAA	0.488000												
COPB1	1315	broad.mit.edu	37	11	14501184	14501184	+	Missense_Mutation	SNP	C	C	T	rs145451352		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:14501184C>T	uc001mli.2	-	11	1596	c.1289G>A	c.(1288-1290)CGC>CAC	p.R430H	COPB1_uc001mlg.2_Missense_Mutation_p.R430H|COPB1_uc001mlh.2_Missense_Mutation_p.R430H	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	430	HEAT 6.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						GTTATCAAAGCGCTGAATGGC	0.343000												
LUZP2	338645	broad.mit.edu	37	11	24998139	24998139	+	Silent	SNP	G	G	A	rs148359334		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:24998139G>A	uc001mqs.2	+	8	759	c.525G>A	c.(523-525)GCG>GCA	p.A175A	LUZP2_uc009yif.2_Silent_p.A89A|LUZP2_uc009yig.2_Silent_p.A133A	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	175	Potential.|Leucine-zipper.					extracellular region		p.A175G(1)		ovary(1)|skin(1)	2						TTTTACAGGCGCAGCAGCTTA	0.358000												
DCDC1	341019	broad.mit.edu	37	11	31327259	31327259	+	Silent	SNP	G	G	A	rs147472755		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:31327259G>A	uc001msv.2	-	6	859	c.657C>T	c.(655-657)GAC>GAT	p.D219D	DCDC1_uc001msu.1_Translation_Start_Site	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	219	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					CTTCCTTGCCGTCTGCCAAGA	0.438000												
HIPK3	10114	broad.mit.edu	37	11	33373380	33373380	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:33373380G>A	uc001mul.1	+	15	3304	c.3034G>A	c.(3034-3036)GCA>ACA	p.A1012T	HIPK3_uc001mum.1_Missense_Mutation_p.A991T|HIPK3_uc009yjv.1_Missense_Mutation_p.A991T	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	1012					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TGAGCATATGGCAAACACAGG	0.438000												
ALX4	60529	broad.mit.edu	37	11	44331484	44331484	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:44331484G>A	uc001myb.2	-	1	233	c.129C>T	c.(127-129)TTC>TTT	p.F43F		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	43					hair follicle development						0						AAGTTGTGCCGAACTTGTCGC	0.682000												
LRP4	4038	broad.mit.edu	37	11	46907918	46907918	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:46907918A>G	uc001ndn.3	-	17	2528	c.2382T>C	c.(2380-2382)ACT>ACC	p.T794T		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	794	Extracellular (Potential).|LDL-receptor class B 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TGATGGTATCAGTGCTGACAT	0.597000												
KBTBD4	55709	broad.mit.edu	37	11	47598987	47598987	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:47598987G>A	uc001nfx.2	-	2	736	c.565C>T	c.(565-567)CGC>TGC	p.R189C	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.R214C|KBTBD4_uc001nfz.2_Missense_Mutation_p.R205C|KBTBD4_uc001nfy.2_Missense_Mutation_p.R189C|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	189	BACK.									ovary(1)|central_nervous_system(1)	2						GTGAGTAAGCGGTGGGGCAAG	0.502000												
OR5L1	219437	broad.mit.edu	37	11	55579083	55579083	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:55579083A>G	uc001nhw.1	+	1	141	c.141A>G	c.(139-141)GCA>GCG	p.A47A		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	47	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				GCATGATTGCACTGATTCAGG	0.483000												
OR8I2	120586	broad.mit.edu	37	11	55861366	55861366	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:55861366G>A	uc010rix.1	+	1	583	c.583G>A	c.(583-585)GAA>AAA	p.E195K		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					ATTCGGCACAGAAATGGTGAG	0.428000												
DTX4	23220	broad.mit.edu	37	11	58949756	58949756	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:58949756C>T	uc001nns.2	+	2	1013	c.756C>T	c.(754-756)ACC>ACT	p.T252T	DTX4_uc001nnr.2_Silent_p.T146T	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	252					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CACTGAAGACCGCCCCATCGC	0.637000												
AHNAK	79026	broad.mit.edu	37	11	62291883	62291883	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:62291883C>T	uc001ntl.2	-	5	10306	c.10006G>A	c.(10006-10008)GTT>ATT	p.V3336I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3336					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGACCGGAAACGTCCACTTCT	0.433000												
TUT1	64852	broad.mit.edu	37	11	62343652	62343652	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:62343652G>T	uc001nto.2	-	9	1691	c.1653C>A	c.(1651-1653)TCC>TCA	p.S551S	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Silent_p.S47S	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	513	PAP-associated.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						CCTCCCGCAGGGACAGCAGGG	0.617000												
NRXN2	9379	broad.mit.edu	37	11	64410147	64410147	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:64410147C>A	uc001oap.2	-	2	640	c.129G>T	c.(127-129)TTG>TTT	p.L43F	NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	43					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCCCcagcagcaacagcagca	0.388000												
ATG2A	23130	broad.mit.edu	37	11	64681811	64681811	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:64681811T>C	uc001obx.2	-	2	448	c.333A>G	c.(331-333)CCA>CCG	p.P111P	ATG2A_uc010rnt.1_Silent_p.P111P	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	111							protein binding			ovary(1)|central_nervous_system(1)	2						TGCCCTCACCTGGACCCCGGC	0.706000												
PPP2R5B	5526	broad.mit.edu	37	11	64699315	64699315	+	Missense_Mutation	SNP	G	G	A	rs141499148		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:64699315G>A	uc001oby.2	+	11	1676	c.1091G>A	c.(1090-1092)CGC>CAC	p.R364H	PPP2R5B_uc001obz.2_Missense_Mutation_p.R364H	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	364					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CAGGTGGCTCGCTGTGTTTCC	0.557000												
EFEMP2	30008	broad.mit.edu	37	11	65637701	65637701	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:65637701G>A	uc001ofy.3	-	6	692	c.498C>T	c.(496-498)GAC>GAT	p.D166D	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Silent_p.D166D	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	166	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		AGCGGCACTCGTCTATGTCTA	0.657000												
KDM2A	22992	broad.mit.edu	37	11	66999252	66999252	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:66999252C>T	uc001ojw.2	+	12	2164	c.1300C>T	c.(1300-1302)CAC>TAC	p.H434Y	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.H128Y	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CCGGGGCTCCCACAATGGACA	0.522000												
SSH3	54961	broad.mit.edu	37	11	67076990	67076990	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:67076990C>T	uc001okj.2	+	11	1362	c.1184C>T	c.(1183-1185)ACG>ATG	p.T395M	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.T249M	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	395	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGGAAGGAGACGCACCGCTTC	0.637000												
LRP5	4041	broad.mit.edu	37	11	68216313	68216313	+	Silent	SNP	G	G	A	rs139974816	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:68216313G>A	uc001ont.2	+	23	4698	c.4623G>A	c.(4621-4623)ACG>ACA	p.T1541T	LRP5_uc009ysg.2_Silent_p.T951T	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1541	PPPSP motif B.|Cytoplasmic (Potential).|Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCCCGACGACGCCCTGCAGCA	0.612000												
CPT1A	1374	broad.mit.edu	37	11	68579964	68579964	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:68579964G>A	uc001oog.3	-	3	392	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y	CPT1A_uc001oof.3_Silent_p.Y74Y|CPT1A_uc009ysj.2_Silent_p.Y74Y	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	74	Mitochondrial intermembrane (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGATCTTGGCGTACATCGTTG	0.512000												
P2RY2	5029	broad.mit.edu	37	11	72945613	72945613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:72945613C>T	uc001otj.2	+	3	742	c.409C>T	c.(409-411)CGA>TGA	p.R137*	P2RY2_uc001otk.2_Nonsense_Mutation_p.R137*|P2RY2_uc001otl.2_Nonsense_Mutation_p.R137*	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	137	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R137Q(1)		ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	GGGCGTCTTACGACCTCTGCG	0.672000												
ARHGEF17	9828	broad.mit.edu	37	11	73073593	73073593	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:73073593C>T	uc001otu.2	+	14	4831	c.4810C>T	c.(4810-4812)CCG>TCG	p.P1604S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1604					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GGAGCCGGGGCCGCAGCCCTG	0.721000												
C2CD3	26005	broad.mit.edu	37	11	73760408	73760408	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:73760408G>A	uc001ouu.2	-	27	5562	c.5335C>T	c.(5335-5337)CGT>TGT	p.R1779C	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1779						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TCCACTCCACGCCTTGCTTGC	0.438000												
DLG2	1740	broad.mit.edu	37	11	83673939	83673939	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:83673939G>A	uc001paj.2	-	9	1317	c.1014C>T	c.(1012-1014)GAC>GAT	p.D338D	DLG2_uc001pai.2_Silent_p.D287D|DLG2_uc010rsy.1_Silent_p.D305D|DLG2_uc010rsz.1_Silent_p.D338D|DLG2_uc010rta.1_Silent_p.D338D|DLG2_uc001pak.2_Silent_p.D443D|DLG2_uc010rtb.1_Silent_p.D305D|DLG2_uc001pal.1_Silent_p.D338D|DLG2_uc001pam.1_Silent_p.D377D	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	338						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGGTGTAGTCGTCGTCAACAA	0.428000												
DLG2	1740	broad.mit.edu	37	11	84996295	84996295	+	Missense_Mutation	SNP	G	G	A	rs148579957		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:84996295G>A	uc001pak.2	-	4	467	c.155C>T	c.(154-156)CCG>CTG	p.P52L		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	Error:Variant_position_missing_in_Q15700_after_alignment						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCATGGCACGGAGCAAGAAG	0.378000												
FZD4	8322	broad.mit.edu	37	11	86662986	86662986	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:86662986A>G	uc001pce.2	-	2	1118	c.812T>C	c.(811-813)GTC>GCC	p.V271A	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	271	Helical; Name=2; (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTCAGCCTGACAATATAAGC	0.428000												
FAT3	120114	broad.mit.edu	37	11	92257897	92257897	+	Silent	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:92257897C>A	uc001pdj.3	+	2	3407	c.3390C>A	c.(3388-3390)TCC>TCA	p.S1130S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1130	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTCTACTCCACCATTGAGG	0.483000										TCGA Ovarian(4;0.039)		
PANX1	24145	broad.mit.edu	37	11	93912967	93912967	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:93912967A>G	uc001per.2	+	4	1130	c.745A>G	c.(745-747)AAA>GAA	p.K249E	PANX1_uc001peq.2_Missense_Mutation_p.K249E	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	249	Extracellular (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTGCAGCATCAAATCAGGGAT	0.498000												
GUCY1A2	2977	broad.mit.edu	37	11	106681137	106681137	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:106681137G>A	uc001pjg.1	-	5	1664	c.1274C>T	c.(1273-1275)CCA>CTA	p.P425L	GUCY1A2_uc010rvo.1_Missense_Mutation_p.P446L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.P425L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	425					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)		GTCCACACATGGAGAGCCCAA	0.433000												
CADM1	23705	broad.mit.edu	37	11	115102133	115102133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:115102133C>T	uc001ppi.3	-	4	631	c.502G>A	c.(502-504)GCT>ACT	p.A168T	CADM1_uc001ppf.3_Missense_Mutation_p.A168T|CADM1_uc001ppk.3_Missense_Mutation_p.A168T|CADM1_uc001ppj.3_Missense_Mutation_p.A168T|CADM1_uc001ppl.2_Missense_Mutation_p.A168T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	168	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CTGGCCATAGCAGTGCAGTTG	0.463000												
RNF214	257160	broad.mit.edu	37	11	117152789	117152789	+	Silent	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:117152789C>A	uc001pqt.2	+	11	1560	c.1515C>A	c.(1513-1515)GGC>GGA	p.G505G	RNF214_uc001pqu.2_Silent_p.G505G|RNF214_uc010rxf.1_Silent_p.G350G	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	505	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CCCTTCCTGGCTCCCATGGCA	0.642000												
NLRX1	79671	broad.mit.edu	37	11	119053036	119053036	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:119053036C>A	uc001pvu.2	+	9	2803	c.2588C>A	c.(2587-2589)CCT>CAT	p.P863H	NLRX1_uc001pvv.2_Missense_Mutation_p.P863H|NLRX1_uc001pvw.2_Missense_Mutation_p.P863H|NLRX1_uc001pvx.2_Missense_Mutation_p.P863H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	863	LRR 7.|Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGGGAGCACCCTTCCCTGGAA	0.637000												
USP2	9099	broad.mit.edu	37	11	119243941	119243941	+	Missense_Mutation	SNP	C	C	T	rs113893557		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:119243941C>T	uc001pwm.3	-	2	545	c.250G>A	c.(250-252)GAC>AAC	p.D84N	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	84	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CCAGTGATGTCGGGTCTCAGC	0.662000												
SORL1	6653	broad.mit.edu	37	11	121367679	121367679	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:121367679G>A	uc001pxx.2	+	6	940	c.860G>A	c.(859-861)CGG>CAG	p.R287Q		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	287	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCCAGTCCCGGGAAAACCAG	0.438000												
BSX	390259	broad.mit.edu	37	11	122849972	122849972	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:122849972C>T	uc010rzs.1	-	2	456	c.456G>A	c.(454-456)ACG>ACA	p.T152T		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	152	Homeobox.										0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGCCCACCTGCGTCTCGGACA	0.592000												
ST14	6768	broad.mit.edu	37	11	130078396	130078396	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:130078396C>T	uc001qfw.2	+	17	2279	c.2086C>T	c.(2086-2088)CGC>TGC	p.R696C		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	696	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGGCTCAAGCGCATCATCTC	0.632000												
OPCML	4978	broad.mit.edu	37	11	132399028	132399028	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:132399028G>A	uc001qgs.2	-	3	503	c.453C>T	c.(451-453)AGC>AGT	p.S151S	OPCML_uc001qgu.2_Silent_p.S144S|OPCML_uc010sck.1_Silent_p.S151S|OPCML_uc001qgt.2_Silent_p.S151S|OPCML_uc010scl.1_Silent_p.S110S	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	151	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGGTCACACTGCTTCCCTCAT	0.468000												
WNK1	65125	broad.mit.edu	37	12	992975	992975	+	Silent	SNP	G	G	A	rs147752204	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:992975G>A	uc001qio.3	+	17	4206	c.3699G>A	c.(3697-3699)GCG>GCA	p.A1233A	WNK1_uc001qip.3_Silent_p.A986A|WNK1_uc001qir.3_Silent_p.A406A	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1233					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAATTCCTGCGTCTTCCATGC	0.299000												
CACNA1C	775	broad.mit.edu	37	12	2714868	2714868	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:2714868C>T	uc009zdu.1	+	25	3445	c.3132C>T	c.(3130-3132)GTC>GTT	p.V1044V	CACNA1C_uc009zdv.1_Silent_p.V1021V|CACNA1C_uc001qkb.2_Silent_p.V1024V|CACNA1C_uc001qkc.2_Silent_p.V1024V|CACNA1C_uc001qke.2_Silent_p.V1024V|CACNA1C_uc001qkf.2_Silent_p.V1024V|CACNA1C_uc001qjz.2_Silent_p.V1024V|CACNA1C_uc001qkd.2_Silent_p.V1024V|CACNA1C_uc001qkg.2_Silent_p.V1024V|CACNA1C_uc009zdw.1_Silent_p.V1024V|CACNA1C_uc001qkh.2_Silent_p.V1024V|CACNA1C_uc001qkl.2_Silent_p.V1044V|CACNA1C_uc001qkn.2_Silent_p.V1024V|CACNA1C_uc001qko.2_Silent_p.V1044V|CACNA1C_uc001qkp.2_Silent_p.V1024V|CACNA1C_uc001qkr.2_Silent_p.V1024V|CACNA1C_uc001qku.2_Silent_p.V1024V|CACNA1C_uc001qkq.2_Silent_p.V1024V|CACNA1C_uc001qks.2_Silent_p.V1024V|CACNA1C_uc001qkt.2_Silent_p.V1024V|CACNA1C_uc001qka.1_Silent_p.V559V|CACNA1C_uc001qki.1_Silent_p.V760V|CACNA1C_uc001qkj.1_Silent_p.V760V|CACNA1C_uc001qkk.1_Silent_p.V760V|CACNA1C_uc001qkm.1_Silent_p.V760V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1044	Cytoplasmic (Potential).|III.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGTGTTTGTCGCCATCCGGA	0.587000												
PRMT8	56341	broad.mit.edu	37	12	3678670	3678670	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:3678670C>T	uc001qmf.2	+	6	1019	c.652C>T	c.(652-654)CGG>TGG	p.R218W	PRMT8_uc009zed.2_Missense_Mutation_p.R209W|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.R32W	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	218					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GTTTCCAGACCGGGCAGCTTT	0.473000												
KCNA5	3741	broad.mit.edu	37	12	5154173	5154173	+	Missense_Mutation	SNP	C	C	T	rs144246051	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:5154173C>T	uc001qni.2	+	1	1089	c.860C>T	c.(859-861)GCG>GTG	p.A287V		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	287						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CACCCTCCGGCGCCCCACCAG	0.682000												
PLEKHG6	55200	broad.mit.edu	37	12	6421413	6421413	+	Silent	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:6421413A>C	uc001qnr.2	+	2	169	c.21A>C	c.(19-21)CCA>CCC	p.P7P	PLEKHG6_uc001qns.2_Silent_p.P7P|PLEKHG6_uc010sew.1_Silent_p.P7P|PLEKHG6_uc010sex.1_5'Flank	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	7					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						TTGGTCCTCCACATGAGGGCC	0.592000												
IFFO1	25900	broad.mit.edu	37	12	6660145	6660145	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:6660145G>A	uc001qpd.1	-	2	830	c.796C>T	c.(796-798)CGG>TGG	p.R266W	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_5'Flank|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.R266W|IFFO1_uc001qpf.1_Missense_Mutation_p.R266W|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Missense_Mutation_p.R266W|IFFO1_uc001qpg.2_5'Flank	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	266	Potential.					intermediate filament					0						AGCTGGATCCGCACCGTGTAC	0.622000												
CD4	920	broad.mit.edu	37	12	6923379	6923379	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:6923379A>G	uc001qqv.1	+	4	531	c.286A>G	c.(286-288)ATC>GTC	p.I96V	CD4_uc009zez.1_Missense_Mutation_p.I41V|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	96	Extracellular (Potential).|Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				TCCCCTGATCATCAAGAATCT	0.498000												
C1R	715	broad.mit.edu	37	12	7244123	7244123	+	Silent	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:7244123C>A	uc010sfy.1	-	2	215	c.156G>T	c.(154-156)ACG>ACT	p.T52T	C1R_uc010sfz.1_Silent_p.T66T|C1R_uc010sga.1_Silent_p.T52T	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	52	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					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)	CCCTGTATCCCGTGGGGACTG	0.532000												
KLRF1	51348	broad.mit.edu	37	12	9994990	9994990	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:9994990T>C	uc010sgw.1	+	6	609	c.545T>C	c.(544-546)ATG>ACG	p.M182T	KLRF1_uc009zgw.2_Missense_Mutation_p.M133T|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Intron|KLRF1_uc009zha.2_Intron	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F,	183	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			large_intestine(1)	1						TCCTTGAAAATGACATGGACT	0.358000												
CLEC2B	9976	broad.mit.edu	37	12	10010106	10010106	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:10010106G>A	uc001qwn.2	-	3	861	c.204C>T	c.(202-204)GCC>GCT	p.A68A		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	68	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0						TAGTTAGGTCGGCATGTTGAG	0.328000												
DUSP16	80824	broad.mit.edu	37	12	12630269	12630269	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:12630269A>G	uc001rao.1	-	7	2128	c.1496T>C	c.(1495-1497)CTT>CCT	p.L499P	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.L351P	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	499					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGGAGATAAAAGGGACCTCTG	0.577000												
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338000	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
C12orf11	55726	broad.mit.edu	37	12	27077371	27077371	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:27077371G>A	uc001rhk.3	-	7	1258	c.721C>T	c.(721-723)CGG>TGG	p.R241W	C12orf11_uc010sjk.1_Missense_Mutation_p.R140W	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	241					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					GCAAGATGCCGTCCTGCACGA	0.348000												
FGFR1OP2	26127	broad.mit.edu	37	12	27113541	27113541	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:27113541C>T	uc001rhm.2	+	5	832	c.490C>T	c.(490-492)CAC>TAC	p.H164Y	FGFR1OP2_uc001rhl.2_Missense_Mutation_p.H164Y|FGFR1OP2_uc001rhn.2_Intron	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	164	Potential.					cytoplasm					0	Colorectal(261;0.0847)					GGAGAGAAGGCACTTGGAAGC	0.423000												
DENND5B	160518	broad.mit.edu	37	12	31632813	31632813	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:31632813T>C	uc001rki.1	-	3	800	c.614A>G	c.(613-615)AAG>AGG	p.K205R	DENND5B_uc001rkh.1_Missense_Mutation_p.K240R|DENND5B_uc009zjq.1_Missense_Mutation_p.K124R|DENND5B_uc001rkj.2_Missense_Mutation_p.K227R|DENND5B_uc001rkk.1_Missense_Mutation_p.K127R	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	205	DENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						AAGGAATTTCTTGCAGGCCTG	0.423000												
BICD1	636	broad.mit.edu	37	12	32481022	32481022	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:32481022C>T	uc001rku.2	+	5	1714	c.1633C>T	c.(1633-1635)CGC>TGC	p.R545C	BICD1_uc001rkv.2_Missense_Mutation_p.R545C|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	545					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CAGAGTCACCCGCAGTGGCAG	0.527000												
AMIGO2	347902	broad.mit.edu	37	12	47471413	47471413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:47471413C>T	uc001rpm.2	-	3	2028	c.1373G>A	c.(1372-1374)CGG>CAG	p.R458Q	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.R458Q|AMIGO2_uc001rpl.2_Missense_Mutation_p.R458Q	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	458	Cytoplasmic (Potential).				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					ACCTGCCTTCCGTTCATCAGC	0.512000												
COL2A1	1280	broad.mit.edu	37	12	48378832	48378832	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:48378832C>A	uc001rqu.2	-	27	1960	c.1779G>T	c.(1777-1779)CAG>CAT	p.Q593H	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.Q524H	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	593	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACGAGCCCCCTGAGGACCTG	0.537000												
MLL2	8085	broad.mit.edu	37	12	49418643	49418643	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:49418643C>T	uc001rta.3	-	49	15871	c.15871G>A	c.(15871-15873)GAG>AAG	p.E5291K		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5291	FYR C-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AAGAGCTCCTCGCCCTTCAGA	0.572000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
LMBR1L	55716	broad.mit.edu	37	12	49491882	49491882	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:49491882G>A	uc001rth.3	-	16	1589	c.1247C>T	c.(1246-1248)ACT>ATT	p.T416I	LMBR1L_uc001rtg.3_Missense_Mutation_p.T411I|LMBR1L_uc001rti.3_Missense_Mutation_p.T396I	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	416	Extracellular (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						GTCAAAGCGAGTGAGCCCTGA	0.557000											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DIP2B	57609	broad.mit.edu	37	12	51138528	51138528	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:51138528C>T	uc001rwv.2	+	38	4793	c.4637C>T	c.(4636-4638)CCG>CTG	p.P1546L	DIP2B_uc009zlt.2_Missense_Mutation_p.P976L	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1546						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						GGTGTCATCCCGATCAACTCC	0.537000												
HOXC12	3228	broad.mit.edu	37	12	54349039	54349039	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:54349039G>A	uc010soq.1	+	1	326	c.326G>A	c.(325-327)CGT>CAT	p.R109H		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	109					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						GGCCTGAAGCGTGAGGAGCGC	0.746000												
ESYT1	23344	broad.mit.edu	37	12	56536156	56536156	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:56536156T>C	uc001sjq.2	+	25	2730	c.2680T>C	c.(2680-2682)TGG>CGG	p.W894R	ESYT1_uc001sjr.2_Missense_Mutation_p.W904R	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	894						integral to membrane				ovary(4)|skin(1)	5						CTTGGACCGCTGGTTTACACT	0.627000												
MIP	4284	broad.mit.edu	37	12	56847528	56847528	+	Silent	SNP	C	C	T	rs141768870		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:56847528C>T	uc001slh.2	-	2	404	c.372G>A	c.(370-372)GCG>GCA	p.A124A		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	124	Extracellular (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						CCACGCTCACCGCAGGGTGCA	0.577000												
GPR182	11318	broad.mit.edu	37	12	57389247	57389247	+	Missense_Mutation	SNP	C	C	T	rs146012865	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:57389247C>T	uc001smk.2	+	2	348	c.254C>T	c.(253-255)GCA>GTA	p.A85V	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	85	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						TCAGGCCGGGCAGGGCTGATG	0.607000												
ARHGAP9	64333	broad.mit.edu	37	12	57869329	57869329	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:57869329C>T	uc001sod.2	-	14	1844	c.1651G>A	c.(1651-1653)GAA>AAA	p.E551K	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.E277K|ARHGAP9_uc001soa.2_Missense_Mutation_p.E150K|ARHGAP9_uc001sob.2_Missense_Mutation_p.E461K|ARHGAP9_uc001soc.2_Missense_Mutation_p.E461K|ARHGAP9_uc001soe.1_Missense_Mutation_p.E540K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	480					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTCTTCTTCGTCCTCCCCG	0.716000												
GRIP1	23426	broad.mit.edu	37	12	66788080	66788080	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:66788080G>A	uc001stk.2	-	16	2122	c.1881C>T	c.(1879-1881)TAC>TAT	p.Y627Y	GRIP1_uc010sta.1_Silent_p.Y571Y|GRIP1_uc001stj.2_Silent_p.Y409Y|GRIP1_uc001stl.1_Silent_p.Y519Y|GRIP1_uc001stm.2_Silent_p.Y627Y	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	679	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGGGCCCCCCGTAGCGTTTAA	0.408000												
PTPRB	5787	broad.mit.edu	37	12	70948992	70948992	+	Silent	SNP	G	G	A	rs112766507		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:70948992G>A	uc001swb.3	-	18	4467	c.4437C>T	c.(4435-4437)AGC>AGT	p.S1479S	PTPRB_uc010sto.1_Silent_p.S1389S|PTPRB_uc010stp.1_Silent_p.S1389S|PTPRB_uc001swc.3_Silent_p.S1697S|PTPRB_uc001swa.3_Silent_p.S1609S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1479	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATTGGTGTCGCTGAACCAGC	0.478000												
C12orf12	196477	broad.mit.edu	37	12	91348087	91348087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:91348087G>A	uc001tbj.2	-	1	867	c.433C>T	c.(433-435)CGC>TGC	p.R145C		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	145										central_nervous_system(1)|pancreas(1)	2						CGGCCTCTGCGGCCCCAGCGC	0.697000												
GOLGA2B	55592	broad.mit.edu	37	12	100551024	100551024	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:100551024G>A	uc001tgs.2	-	5	745	c.301C>T	c.(301-303)CGC>TGC	p.R101C	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.R101C|uc001tgv.1_5'Flank|uc001tgx.2_5'Flank	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0						GGTACAGTGCGATGTACTCTC	0.622000												
GNPTAB	79158	broad.mit.edu	37	12	102161840	102161840	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:102161840G>A	uc001tit.2	-	11	1562	c.1383C>T	c.(1381-1383)TGC>TGT	p.C461C	GNPTAB_uc001tiu.1_Silent_p.C461C	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	461	LNR 1.		C -> G (in MLIIIA).		cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						CATCCCAATCGCAGGCTGAAT	0.418000												
ACACB	32	broad.mit.edu	37	12	109637206	109637206	+	Splice_Site	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:109637206G>A	uc001tob.2	+	18	2747	c.2628_splice	c.e18-1	p.S876_splice	ACACB_uc001toc.2_Splice_Site_p.S876_splice	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CTCTCTCCCAGTTACCGAATT	0.527000												
TRPV4	59341	broad.mit.edu	37	12	110246248	110246248	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:110246248G>T	uc001tpj.1	-	2	507	c.412C>A	c.(412-414)CCT>ACT	p.P138T	TRPV4_uc001tpg.1_Missense_Mutation_p.P104T|TRPV4_uc001tph.1_Missense_Mutation_p.P138T|TRPV4_uc001tpi.1_Missense_Mutation_p.P138T|TRPV4_uc001tpk.1_Missense_Mutation_p.P138T|TRPV4_uc001tpl.1_Missense_Mutation_p.P138T	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	138	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TGAGGGGCAGGGGCTTTGGGG	0.657000												
ARPC3	10094	broad.mit.edu	37	12	110873942	110873942	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:110873942G>A	uc001tqq.2	-	6	540	c.447C>T	c.(445-447)TTC>TTT	p.F149F		NM_005719	NP_005710	O15145	ARPC3_HUMAN	actin related protein 2/3 complex subunit 3	149					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			ovary(1)	1						TCTGAGGGTCGAAAACTTTCT	0.388000												
CUX2	23316	broad.mit.edu	37	12	111758076	111758076	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:111758076G>A	uc001tsa.1	+	17	2416	c.2263G>A	c.(2263-2265)GCG>ACG	p.A755T		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	755						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CGGGGGCCCCGCGCAGGCGCC	0.736000												
ATXN2	6311	broad.mit.edu	37	12	111893938	111893938	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:111893938C>T	uc001tsj.2	-	23	3801	c.3639G>A	c.(3637-3639)TCG>TCA	p.S1213S	ATXN2_uc001tsh.2_Silent_p.S948S|ATXN2_uc001tsi.2_Silent_p.S906S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Silent_p.S401S|ATXN2_uc001tsl.1_Silent_p.S214S	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1213					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						TATTCTGTGGCGACTGCGTGT	0.582000												
WSB2	55884	broad.mit.edu	37	12	118480755	118480755	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:118480755G>A	uc001twr.2	-	4	548	c.450C>T	c.(448-450)TCC>TCT	p.S150S	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Silent_p.S150S	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	150					intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGGTGGCCGGAAAGATTCA	0.592000												
ACADS	35	broad.mit.edu	37	12	121163699	121163699	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:121163699C>T	uc001tza.3	+	1	129	c.11C>T	c.(10-12)GCG>GTG	p.A4V	ACADS_uc010szl.1_Missense_Mutation_p.A4V	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	4						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	ATGGCCGCCGCGCTGCTCGCC	0.761000												
ORAI1	84876	broad.mit.edu	37	12	122079195	122079195	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:122079195G>A	uc010szz.1	+	3	745	c.552G>A	c.(550-552)ACG>ACA	p.T184T		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	calcium release-activated calcium channel	184	Helical; (Potential).				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TCATCGGCACGCTGCTCTTCC	0.632000												
LRRC43	254050	broad.mit.edu	37	12	122667814	122667814	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:122667814C>T	uc009zxm.2	+	1	148	c.123C>T	c.(121-123)CGC>CGT	p.R41R	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	41											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGTGTCTGCGCGAGTTCCCGT	0.771000												
ABCB9	23457	broad.mit.edu	37	12	123444231	123444231	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:123444231G>A	uc001udm.3	-	2	862	c.552C>T	c.(550-552)GAC>GAT	p.D184D	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.D184D|ABCB9_uc010taj.1_Silent_p.D184D|ABCB9_uc001udp.2_Silent_p.D184D|ABCB9_uc001udq.2_Translation_Start_Site|ABCB9_uc001udr.2_Silent_p.D184D	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	184					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGAAGGCCACGTCGGGCTTGG	0.657000												
DNAH10	196385	broad.mit.edu	37	12	124359795	124359795	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:124359795G>A	uc001uft.3	+	46	7627	c.7602G>A	c.(7600-7602)ACG>ACA	p.T2534T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2534	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATATGGCACGCAGCAGCCCA	0.358000												
DDX51	317781	broad.mit.edu	37	12	132625024	132625024	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:132625024G>A	uc001ujy.3	-	11	1656	c.1617C>T	c.(1615-1617)TAC>TAT	p.Y539Y		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	539	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGCCAGGCCCGTAGCGCGAGG	0.622000												
XPO4	64328	broad.mit.edu	37	13	21358038	21358038	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:21358038G>A	uc001unq.3	-	23	3315	c.3279C>T	c.(3277-3279)GTC>GTT	p.V1093V		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	1093					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GTAATGTTTCGACCAGTTCAG	0.413000												
PAN3	255967	broad.mit.edu	37	13	28855473	28855473	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:28855473T>A	uc001urz.2	+	16	1911	c.1903T>A	c.(1903-1905)TTT>ATT	p.F635I	PAN3_uc001ury.2_Missense_Mutation_p.F469I|PAN3_uc001urx.2_Missense_Mutation_p.F581I	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	781	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGGAAGACTGTTTAGGCTCCT	0.308000												
NBEA	26960	broad.mit.edu	37	13	36202305	36202305	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:36202305C>T	uc001uvb.2	+	49	7743	c.7537C>T	c.(7537-7539)CGT>TGT	p.R2513C	NBEA_uc010abi.2_Missense_Mutation_p.R1169C|NBEA_uc010tee.1_Missense_Mutation_p.R306C|NBEA_uc010tef.1_Missense_Mutation_p.R306C|NBEA_uc010teg.1_Missense_Mutation_p.R306C|NBEA_uc001uvd.2_Missense_Mutation_p.R70C	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2513	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGAAGCAGTTCGTGCTCTGAA	0.433000												
FREM2	341640	broad.mit.edu	37	13	39448644	39448644	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:39448644C>T	uc001uwv.2	+	18	8511	c.8202C>T	c.(8200-8202)CGC>CGT	p.R2734R		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2734	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCAGCATGCGCATCGGTGATG	0.468000												
AKAP11	11215	broad.mit.edu	37	13	42874908	42874908	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:42874908T>G	uc001uys.1	+	8	2201	c.2026T>G	c.(2026-2028)TGT>GGT	p.C676G		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	676					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATCTCCACAGTGTGGGTCGTT	0.413000												
MLNR	2862	broad.mit.edu	37	13	49795274	49795274	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:49795274C>T	uc010tgj.1	+	1	801	c.801C>T	c.(799-801)TAC>TAT	p.Y267Y		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	267	Helical; Name=5; (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCATCCTCTACGGGCTCATCG	0.726000												
PCDH17	27253	broad.mit.edu	37	13	58208087	58208087	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:58208087G>A	uc001vhq.1	+	1	2299	c.1407G>A	c.(1405-1407)CCG>CCA	p.P469P	PCDH17_uc010aec.1_Silent_p.P469P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	469	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACGACAACCCGCCTCGGTTCA	0.612000												
PCDH9	5101	broad.mit.edu	37	13	67802376	67802376	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:67802376A>C	uc001vik.2	-	2	889	c.197T>G	c.(196-198)CTG>CGG	p.L66R	PCDH9_uc001vil.2_Missense_Mutation_p.L66R|PCDH9_uc010thl.1_Missense_Mutation_p.L66R|PCDH9_uc001vin.3_Missense_Mutation_p.L66R	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	66	Extracellular (Potential).|Cadherin 1.				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)		TTTAGAAACCAGTCTGTAGAC	0.468000												
MYCBP2	23077	broad.mit.edu	37	13	77672167	77672167	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:77672167T>C	uc001vkf.2	-	57	9099	c.9008A>G	c.(9007-9009)CAT>CGT	p.H3003R	MYCBP2_uc010aev.2_Missense_Mutation_p.H2407R|MYCBP2_uc001vkg.1_Missense_Mutation_p.H526R|MYCBP2_uc010aew.2_Missense_Mutation_p.H389R	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TATGCCTTCATGCCAGAGGAA	0.448000												
MYCBP2	23077	broad.mit.edu	37	13	77755995	77755995	+	Silent	SNP	A	A	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:77755995A>T	uc001vkf.2	-	34	4759	c.4668T>A	c.(4666-4668)GCT>GCA	p.A1556A	MYCBP2_uc010aev.2_Silent_p.A960A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTGACACAGAGCTGACATAA	0.403000												
GPC5	2262	broad.mit.edu	37	13	92560303	92560303	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:92560303G>C	uc010tif.1	+	6	1759	c.1393G>C	c.(1393-1395)GTT>CTT	p.V465L		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	465						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACTGAAGCATGTTGTTCAGGT	0.323000												
PCCA	5095	broad.mit.edu	37	13	100953844	100953844	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:100953844G>A	uc001voo.2	+	13	1234	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q	PCCA_uc010aga.2_Missense_Mutation_p.R373Q|PCCA_uc010tiz.1_Missense_Mutation_p.R399Q|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	399	Biotin carboxylation.		R -> Q (in PA-1).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GTTGAATGTCGGGTTTATGCT	0.488000												
MYO16	23026	broad.mit.edu	37	13	109661393	109661393	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:109661393T>C	uc001vqt.1	+	22	2651	c.2525T>C	c.(2524-2526)TTC>TCC	p.F842S	MYO16_uc010agk.1_Missense_Mutation_p.F864S|MYO16_uc001vqu.1_Missense_Mutation_p.F642S|MYO16_uc010tjh.1_Missense_Mutation_p.F354S	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	842					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTTTTTTTCCAGGTATTC	0.353000												
F10	2159	broad.mit.edu	37	13	113795330	113795330	+	Silent	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:113795330C>A	uc001vsx.2	+	5	525	c.468C>A	c.(466-468)ACC>ACA	p.T156T	F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.T156T|F10_uc001vsz.2_Silent_p.T156T	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	156	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(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)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGGTACACCCTGGCTGACA	0.662000												
TMCO3	55002	broad.mit.edu	37	13	114202753	114202753	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:114202753G>A	uc001vtu.3	+	12	2267	c.1906G>A	c.(1906-1908)GTC>ATC	p.V636I		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	636						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AAGAGCGGGCGTCATCTCTCG	0.677000												
CDC16	8881	broad.mit.edu	37	13	115028389	115028389	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:115028389C>T	uc001vuk.1	+	16	1610	c.1412C>T	c.(1411-1413)GCA>GTA	p.A471V	CDC16_uc001vul.1_Missense_Mutation_p.A471V|CDC16_uc001vum.1_Missense_Mutation_p.A377V|CDC16_uc001vun.1_Missense_Mutation_p.A470V|CDC16_uc001vuo.1_Missense_Mutation_p.A419V	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	471	TPR 6.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CACCGTCAGGCACTGGTGTTG	0.443000												
OR4K15	81127	broad.mit.edu	37	14	20444431	20444431	+	Missense_Mutation	SNP	C	C	T	rs140788284	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:20444431C>T	uc010tkx.1	+	1	754	c.754C>T	c.(754-756)CGC>TGC	p.R252C		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	252	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTTAGGAATCGCTCCTCTGC	0.453000												
PARP2	10038	broad.mit.edu	37	14	20822321	20822321	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:20822321G>T	uc001vxc.2	+	8	745	c.717G>T	c.(715-717)CAG>CAT	p.Q239H	PARP2_uc001vxd.2_Missense_Mutation_p.Q226H|PARP2_uc001vxb.1_Missense_Mutation_p.Q239H|PARP2_uc010tle.1_Translation_Start_Site	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	239	PARP alpha-helical.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TTCGGGTACAGGAGTTAATAA	0.383000								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
TEP1	7011	broad.mit.edu	37	14	20851686	20851686	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:20851686C>T	uc001vxe.2	-	26	3868	c.3828G>A	c.(3826-3828)GGG>GGA	p.G1276G	TEP1_uc010ahk.2_Silent_p.G626G|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.G1168G|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1276	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAATCAGCTGCCCATTCTGGT	0.597000												
PSMB5	5693	broad.mit.edu	37	14	23495375	23495375	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:23495375G>A	uc001wii.2	-	3	979	c.715C>T	c.(715-717)CGG>TGG	p.R239W	PSMB5_uc001wij.2_3'UTR|PSMB5_uc010tni.1_Missense_Mutation_p.R136W	NM_002797	NP_002788	P28074	PSB5_HUMAN	proteasome beta 5 subunit isoform 1	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CCATCCTCCCGCACGTGGTAG	0.562000												
MYH6	4624	broad.mit.edu	37	14	23855198	23855198	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:23855198C>T	uc001wjv.2	-	34	5169	c.5102G>A	c.(5101-5103)CGG>CAG	p.R1701Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1701	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCCAGCTTCCGGGACCGCTC	0.637000												
JPH4	84502	broad.mit.edu	37	14	24045100	24045100	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:24045100G>A	uc001wkq.2	-	4	1863	c.945C>T	c.(943-945)CAC>CAT	p.H315H	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Silent_p.H315H|JPH4_uc001wks.2_Silent_p.H315H	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	315	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCCCGTAGCCGTGCCGCCGGT	0.751000												
NYNRIN	57523	broad.mit.edu	37	14	24882594	24882594	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:24882594C>T	uc001wpf.3	+	8	3135	c.2817C>T	c.(2815-2817)ACC>ACT	p.T939T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	939					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						ATGGCCCCACCTTGGATGAGT	0.592000												
HECTD1	25831	broad.mit.edu	37	14	31574621	31574621	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:31574621G>A	uc001wrc.1	-	40	7856	c.7367C>T	c.(7366-7368)ACG>ATG	p.T2456M	HECTD1_uc001wra.1_Missense_Mutation_p.T582M|HECTD1_uc001wrb.1_Missense_Mutation_p.T582M	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2456	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGAATACCCGTATGCATACA	0.323000												
HECTD1	25831	broad.mit.edu	37	14	31613392	31613392	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:31613392C>A	uc001wrc.1	-	17	3192	c.2703G>T	c.(2701-2703)AAG>AAT	p.K901N	HECTD1_uc001wrd.1_Missense_Mutation_p.K416N	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	901					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGTTTTCATCCTTCAAAAGTA	0.318000												
INSM2	84684	broad.mit.edu	37	14	36003563	36003563	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:36003563G>A	uc001wth.1	+	1	316	c.105G>A	c.(103-105)CCG>CCA	p.P35P		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AGGGGGCGCCGCCCTTCTTGG	0.692000												
INSM2	84684	broad.mit.edu	37	14	36003662	36003662	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:36003662G>A	uc001wth.1	+	1	415	c.204G>A	c.(202-204)GCG>GCA	p.A68A		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CGGCGGAGGCGGCCCGGGAAC	0.761000												
INSM2	84684	broad.mit.edu	37	14	36003715	36003715	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:36003715C>T	uc001wth.1	+	1	468	c.257C>T	c.(256-258)ACG>ATG	p.T86M		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AGCCCGGGGACGGGCGGGCGG	0.662000												
BRMS1L	84312	broad.mit.edu	37	14	36334967	36334967	+	Missense_Mutation	SNP	C	C	T	rs150621893		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:36334967C>T	uc001wtl.2	+	8	853	c.727C>T	c.(727-729)CCA>TCA	p.P243S		NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	243					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		GAAAACGGAACGTAAGTCATT	0.348000												
PAX9	5083	broad.mit.edu	37	14	37145597	37145597	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:37145597G>A	uc001wty.3	+	5	1683	c.966G>A	c.(964-966)GCG>GCA	p.A322A	PAX9_uc010amq.2_RNA	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	322					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CATCGCTGGCGTTCAAGGGAA	0.572000												
SAMD4A	23034	broad.mit.edu	37	14	55169148	55169148	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:55169148G>T	uc001xbb.2	+	2	563	c.562G>T	c.(562-564)GGG>TGG	p.G188W	SAMD4A_uc001xba.2_Missense_Mutation_p.G188W|SAMD4A_uc001xbc.2_Missense_Mutation_p.G188W|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_Missense_Mutation_p.G88W	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	189					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0						CAAGCTCAATGGGTGGCAGAA	0.527000												
KTN1	3895	broad.mit.edu	37	14	56101252	56101252	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:56101252C>T	uc001xcb.2	+	10	1639	c.1337C>T	c.(1336-1338)GCA>GTA	p.A446V	KTN1_uc001xce.2_Missense_Mutation_p.A446V|KTN1_uc001xcc.2_Missense_Mutation_p.A446V|KTN1_uc001xcd.2_Missense_Mutation_p.A446V|KTN1_uc010trb.1_Missense_Mutation_p.A446V|KTN1_uc001xcf.1_Missense_Mutation_p.A446V	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	446	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						AGGCAGTCTGCAGAACTAAAT	0.378000			T	RET	papillary thryoid							
GPR135	64582	broad.mit.edu	37	14	59931390	59931390	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:59931390G>A	uc010apj.2	-	1	670	c.555C>T	c.(553-555)GCC>GCT	p.A185A	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	185	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		AGCGGCTGGCGGCGCAGAAgc	0.572000												
SYNE2	23224	broad.mit.edu	37	14	64653226	64653226	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:64653226G>A	uc001xgm.2	+	97	17871	c.17641G>A	c.(17641-17643)GTG>ATG	p.V5881M	SYNE2_uc001xgl.2_Missense_Mutation_p.V5881M|SYNE2_uc010apy.2_Missense_Mutation_p.V2266M|SYNE2_uc001xgn.2_Missense_Mutation_p.V843M|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Translation_Start_Site|SYNE2_uc001xgq.2_Missense_Mutation_p.V246M	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5881	Spectrin 4.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACGTTCTCGTGGAAGATGT	0.473000												
SPTB	6710	broad.mit.edu	37	14	65239523	65239523	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:65239523G>A	uc001xht.2	-	25	5382	c.5328C>T	c.(5326-5328)AAC>AAT	p.N1776N	SPTB_uc001xhr.2_Silent_p.N1776N|SPTB_uc001xhs.2_Silent_p.N1776N|SPTB_uc001xhu.2_Silent_p.N1776N|SPTB_uc010aqi.2_Silent_p.N437N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1776	Spectrin 15.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCACATCTCGTTCAGCCCGT	0.637000												
MAX	4149	broad.mit.edu	37	14	65543322	65543322	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:65543322C>T	uc001xif.1	-	5	525	c.355G>A	c.(355-357)GAC>AAC	p.D119N	MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_Silent_p.Q32Q|MAX_uc001xig.1_Missense_Mutation_p.D110N|MAX_uc001xih.1_RNA	NM_002382	NP_002373	P61244	MAX_HUMAN	MAX protein isoform a	119					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(1)	1				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		AGGCTGTTGTCTGAGGAGGGG	0.582000												
PLEKHH1	57475	broad.mit.edu	37	14	68045999	68045999	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:68045999C>A	uc001xjl.1	+	21	3140	c.2998C>A	c.(2998-3000)CCC>ACC	p.P1000T	PLEKHH1_uc010tsw.1_Missense_Mutation_p.P568T|PLEKHH1_uc001xjn.1_Missense_Mutation_p.P515T|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	1000	FERM.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCAGCATCCCCGTGCACTT	0.612000												
PCNX	22990	broad.mit.edu	37	14	71555941	71555941	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:71555941C>T	uc001xmo.2	+	30	5917	c.5471C>T	c.(5470-5472)GCC>GTC	p.A1824V	PCNX_uc010are.1_Missense_Mutation_p.A1713V|PCNX_uc010arf.1_Missense_Mutation_p.A612V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1824						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGATTGCATGCCCTATTTAAA	0.343000												
SIPA1L1	26037	broad.mit.edu	37	14	72117105	72117105	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:72117105T>C	uc001xms.2	+	5	2220	c.1872T>C	c.(1870-1872)ACT>ACC	p.T624T	SIPA1L1_uc001xmt.2_Silent_p.T624T|SIPA1L1_uc001xmu.2_Silent_p.T624T|SIPA1L1_uc001xmv.2_Silent_p.T624T|SIPA1L1_uc010ttm.1_Silent_p.T99T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	624	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GACAGAGCACTGAAGAAGAGA	0.443000												
RGS6	9628	broad.mit.edu	37	14	72976908	72976908	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:72976908G>A	uc001xna.3	+	14	1535	c.1012G>A	c.(1012-1014)GAT>AAT	p.D338N	RGS6_uc010ttn.1_Missense_Mutation_p.D338N|RGS6_uc001xmx.3_Missense_Mutation_p.D338N|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.D338N|RGS6_uc010ttp.1_Missense_Mutation_p.D269N|RGS6_uc001xmz.1_Missense_Mutation_p.D199N	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	338	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTTCTCTTTCGATGAGATATT	0.458000												
PAPLN	89932	broad.mit.edu	37	14	73717689	73717689	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:73717689G>A	uc010ttx.1	+	6	703	c.540G>A	c.(538-540)ACG>ACA	p.T180T	PAPLN_uc001xnw.3_Silent_p.T180T|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.T180T	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	180						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTGACGGCACGACCTGCTACC	0.642000												
C14orf115	55237	broad.mit.edu	37	14	74824474	74824474	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:74824474G>A	uc001xpw.3	+	2	1179	c.988G>A	c.(988-990)GTG>ATG	p.V330M		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	330					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GGGGGGCGTCGTGCCACTTCA	0.662000												
RPS6KL1	83694	broad.mit.edu	37	14	75376598	75376598	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:75376598G>A	uc010tux.1	-	7	1446	c.918C>T	c.(916-918)CCC>CCT	p.P306P	RPS6KL1_uc001xqx.1_Silent_p.P58P|RPS6KL1_uc001xqw.2_Silent_p.P275P|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	306	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCCTGGCTGTGGGTTCACCTT	0.632000												
SNW1	22938	broad.mit.edu	37	14	78187146	78187146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:78187146G>A	uc001xuf.2	-	12	1183	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W	SNW1_uc010tvm.1_Missense_Mutation_p.R311W|SNW1_uc010asu.2_Missense_Mutation_p.R224W|SNW1_uc010tvn.1_Missense_Mutation_p.R386W	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	386					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTGATATCCCGATTTTCATTT	0.373000												
NRXN3	9369	broad.mit.edu	37	14	79432736	79432736	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:79432736G>A	uc001xun.2	+	9	2136	c.1645G>A	c.(1645-1647)GAG>AAG	p.E549K	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.E674K	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	922	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CATTGCAGTCGAGCTTGTCAA	0.428000												
EML5	161436	broad.mit.edu	37	14	89181530	89181530	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:89181530C>T	uc001xxg.2	-	10	1383	c.1197G>A	c.(1195-1197)ACG>ACA	p.T399T	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	399						cytoplasm|microtubule				ovary(3)	3						GTACAACTTCCGTCATATCTC	0.368000												
KIAA1409	57578	broad.mit.edu	37	14	94046501	94046501	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:94046501T>C	uc001ybv.1	+	16	1992	c.1909T>C	c.(1909-1911)TTA>CTA	p.L637L	KIAA1409_uc001ybs.1_Silent_p.L637L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	814						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TCAGATGGAGTTACAAGATGA	0.408000												
SERPINA6	866	broad.mit.edu	37	14	94776185	94776185	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:94776185C>T	uc001ycv.2	-	3	876	c.772G>A	c.(772-774)GTG>ATG	p.V258M	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	258					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCATTGCCCACGTAGTTCATC	0.557000												
PAPOLA	10914	broad.mit.edu	37	14	97002284	97002284	+	Silent	SNP	G	G	A	rs144379355		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:97002284G>A	uc001yfq.2	+	11	1188	c.978G>A	c.(976-978)ACG>ACA	p.T326T	PAPOLA_uc001yfr.2_Silent_p.T326T|PAPOLA_uc010twv.1_Silent_p.T326T|PAPOLA_uc010avp.2_Silent_p.T76T	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	326					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAACTCCACGTACAATGTGT	0.403000												
PPP2R5C	5527	broad.mit.edu	37	14	102368059	102368059	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:102368059G>A	uc001yko.2	+	9	996	c.856G>A	c.(856-858)GTG>ATG	p.V286M	PPP2R5C_uc010txr.1_Missense_Mutation_p.V317M|PPP2R5C_uc001ykk.2_Missense_Mutation_p.V341M|PPP2R5C_uc010txt.1_Missense_Mutation_p.V276M|PPP2R5C_uc001ykn.2_Missense_Mutation_p.V286M|PPP2R5C_uc001ykp.2_Missense_Mutation_p.V286M|PPP2R5C_uc001ykq.2_Missense_Mutation_p.V184M	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	286					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						TTTGTAGGTGGTGATGGCACT	0.453000												
CDCA4	55038	broad.mit.edu	37	14	105478029	105478029	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:105478029G>A	uc001yqa.2	-	2	334	c.238C>T	c.(238-240)CGC>TGC	p.R80C	CDCA4_uc001yqb.2_Missense_Mutation_p.R80C	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	80						nucleus				ovary(1)	1		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GCCACTGTGCGCCACGTCCCA	0.657000												
C15orf2	23742	broad.mit.edu	37	15	24921893	24921893	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:24921893G>T	uc001ywo.2	+	1	1353	c.879G>T	c.(877-879)CCG>CCT	p.P293P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	293	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TAGGCTTGCCGATTCCGCTGA	0.622000												
HERC2	8924	broad.mit.edu	37	15	28437133	28437133	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:28437133A>C	uc001zbj.2	-	53	8531	c.8425T>G	c.(8425-8427)TGG>GGG	p.W2809G	HERC2_uc001zbk.1_Missense_Mutation_p.W344G	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2809	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GATGACTGCCAGCAGGGCTCG	0.552000											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MTMR15	22909	broad.mit.edu	37	15	31222835	31222835	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:31222835C>T	uc001zff.2	+	13	3168	c.2877C>T	c.(2875-2877)CCC>CCT	p.P959P	MTMR15_uc001zfe.2_Silent_p.P564P	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	959	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		GGGGCCTCCCCGACCTGGTGG	0.562000								Direct_reversal_of_damage|Editing_and_processing_nucleases				
C15orf53	400359	broad.mit.edu	37	15	38990601	38990601	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:38990601G>A	uc001zkf.1	+	2	405	c.395G>A	c.(394-396)CGT>CAT	p.R132H		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	hypothetical protein LOC400359	132											0		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		GTGCCCCGCCGTTCACCACTT	0.552000												
VPS18	57617	broad.mit.edu	37	15	41191563	41191563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:41191563G>A	uc001zne.2	+	4	886	c.547G>A	c.(547-549)GGC>AGC	p.G183S		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	183					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGGGCTTTTCGGCCCTGCTCC	0.627000												
DUOX2	50506	broad.mit.edu	37	15	45392015	45392015	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:45392015G>A	uc010bea.2	-	25	3463	c.3260C>T	c.(3259-3261)GCG>GTG	p.A1087V	DUOX2_uc001zun.2_Missense_Mutation_p.A1087V	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1087	Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GACGCTGGCCGCCGTGCCTCG	0.557000												
SLC28A2	9153	broad.mit.edu	37	15	45545493	45545493	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:45545493T>C	uc001zva.2	+	2	145	c.80T>C	c.(79-81)ATG>ACG	p.M27T		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	27					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CTGGAGCTCATGGTAATCACC	0.542000												
FBN1	2200	broad.mit.edu	37	15	48936960	48936960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:48936960G>A	uc001zwx.1	-	2	335	c.7C>T	c.(7-9)CGA>TGA	p.R3*		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	3					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGACGCCCTCGACGCATGATG	0.706000												
COPS2	9318	broad.mit.edu	37	15	49426000	49426000	+	Silent	SNP	C	C	T	rs148364582	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:49426000C>T	uc001zxf.2	-	9	982	c.903G>A	c.(901-903)CCG>CCA	p.P301P	COPS2_uc001zxh.2_Silent_p.P308P|COPS2_uc010ufa.1_Silent_p.P237P	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	301	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CATTTTTGTACGGCTTGGCCT	0.264000												
TRPM7	54822	broad.mit.edu	37	15	50885864	50885864	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:50885864A>G	uc001zyt.3	-	25	3822	c.3558T>C	c.(3556-3558)GAT>GAC	p.D1186D	TRPM7_uc010bew.1_Silent_p.D1186D	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1186	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GAAATTTGTCATCTTTTTCAT	0.338000												
PYGO1	26108	broad.mit.edu	37	15	55841125	55841125	+	Missense_Mutation	SNP	G	G	A	rs147959519		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:55841125G>A	uc010bfl.1	-	2	174	c.118C>T	c.(118-120)CGC>TGC	p.R40C	PYGO1_uc002adf.1_Missense_Mutation_p.R40C	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	40	Nuclear localization signal (Potential).				Wnt receptor signaling pathway	nucleus	zinc ion binding	p.R40C(1)		ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTGCCTTGCGCTTTTTCTTA	0.373000												
LDHAL6B	92483	broad.mit.edu	37	15	59499250	59499250	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:59499250G>A	uc002agb.2	+	1	209	c.111G>A	c.(109-111)CCG>CCA	p.P37P	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	37					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	CGCGCATCCCGCTCAACGGCA	0.592000												
HERC1	8925	broad.mit.edu	37	15	63950763	63950763	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:63950763C>T	uc002amp.2	-	48	9727	c.9579G>A	c.(9577-9579)GCG>GCA	p.A3193A		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3193					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GAAGAGACAGCGCTCTCATGA	0.493000												
CSNK1G1	53944	broad.mit.edu	37	15	64499785	64499785	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:64499785G>A	uc002anf.2	-	7	1168	c.688C>T	c.(688-690)CGG>TGG	p.R230W	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.R230W|CSNK1G1_uc002anh.1_Missense_Mutation_p.R230W|CSNK1G1_uc002anj.2_Missense_Mutation_p.R212W	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	230	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						TCATCTCTCCGGCTTTGCTCT	0.453000												
PIF1	80119	broad.mit.edu	37	15	65114768	65114768	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:65114768C>A	uc002ant.2	-	3	666	c.600G>T	c.(598-600)TTG>TTT	p.L200F	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.L200F|PIF1_uc002anu.2_Missense_Mutation_p.L200F	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	200	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						TGGTGGAGGGCAAGCTCAGCC	0.622000												
CLPX	10845	broad.mit.edu	37	15	65444827	65444827	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:65444827G>A	uc002aom.2	-	13	1824	c.1752C>T	c.(1750-1752)ATC>ATT	p.I584I	CLPX_uc010uiu.1_RNA	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	584					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0						CCACACATACGATATCAGAAT	0.338000												
PTPLAD1	51495	broad.mit.edu	37	15	65863951	65863951	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:65863951C>T	uc002apc.2	+	9	987	c.839C>T	c.(838-840)ACT>ATT	p.T280I	PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.T225I	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain	280	Helical; (Potential).				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding				0						CTTCGTTACACTCTGTGGATT	0.463000												
MAP2K1	5604	broad.mit.edu	37	15	66774194	66774194	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:66774194G>A	uc010bhq.2	+	6	1145	c.670G>A	c.(670-672)GTG>ATG	p.V224M	MAP2K1_uc010ujp.1_Missense_Mutation_p.V202M	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	224	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CAACTCCTTCGTGGGCACAAG	0.552000									Cardiofaciocutaneous_syndrome			
IQCH	64799	broad.mit.edu	37	15	67782375	67782375	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:67782375A>G	uc002aqo.1	+	19	2881	c.2834A>G	c.(2833-2835)CAC>CGC	p.H945R	IQCH_uc002aqq.1_Missense_Mutation_p.H602R|IQCH_uc002aqp.1_Intron|uc002aqr.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	945										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		TTATATGAGCACCTGAAGAGA	0.333000												
GLCE	26035	broad.mit.edu	37	15	69548149	69548149	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:69548149C>T	uc002ary.1	+	3	232	c.4C>T	c.(4-6)CGT>TGT	p.R2C		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	2	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2						TCTGAATATGCGTTGCTTGGC	0.373000												
CSPG4	1464	broad.mit.edu	37	15	75980690	75980690	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:75980690G>T	uc002baw.2	-	3	2809	c.2716C>A	c.(2716-2718)CTC>ATC	p.L906I		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	906	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 5.|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						ACCACGAGGAGGACATTGGTG	0.557000												
CSPG4	1464	broad.mit.edu	37	15	75981406	75981406	+	Missense_Mutation	SNP	C	C	T	rs144233988		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:75981406C>T	uc002baw.2	-	3	2093	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	667	CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CCCTGTGCTGCGGTGGATCTG	0.667000												
ISL2	64843	broad.mit.edu	37	15	76630254	76630254	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:76630254C>T	uc002bbw.1	+	2	272	c.194C>T	c.(193-195)ACG>ATG	p.T65M		NM_145805	NP_665804	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	65	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGGACGAGACGTGCACGTGC	0.667000												
SGK269	79834	broad.mit.edu	37	15	77407138	77407138	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:77407138T>C	uc002bcm.2	-	6	4909	c.4601A>G	c.(4600-4602)CAA>CGA	p.Q1534R		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1534	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CCCAAAGCCTTGGGCAGTCCC	0.562000												
HMG20A	10363	broad.mit.edu	37	15	77771648	77771648	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:77771648C>T	uc002bcr.2	+	10	1236	c.1035C>T	c.(1033-1035)CTC>CTT	p.L345L	HMG20A_uc002bcs.2_Silent_p.L345L	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	high-mobility group 20A	345					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TGAACAGACTCGATCGTTAGG	0.363000												
MTHFS	10588	broad.mit.edu	37	15	80137709	80137709	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:80137709T>C	uc002bex.3	-	3	495	c.455A>G	c.(454-456)TAC>TGC	p.Y152C	MTHFS_uc002bey.2_RNA	NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	152	Substrate binding.|ATP.				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)		GGCATCATAGTAGCCCTTGCC	0.517000												
PDE8A	5151	broad.mit.edu	37	15	85658682	85658682	+	Silent	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:85658682A>C	uc002blh.2	+	15	1552	c.1363A>C	c.(1363-1365)AGA>CGA	p.R455R	PDE8A_uc002bli.2_Silent_p.R409R|PDE8A_uc010bnc.2_Silent_p.R208R|PDE8A_uc010bnd.2_Silent_p.R208R|PDE8A_uc002blj.2_Silent_p.R75R|PDE8A_uc002blk.2_Silent_p.R75R	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	455					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGGTTTGCGAAGACTATCAGG	0.358000												
SLCO3A1	28232	broad.mit.edu	37	15	92459657	92459657	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:92459657C>T	uc002bqx.2	+	2	816	c.615C>T	c.(613-615)CAC>CAT	p.H205H	SLCO3A1_uc002bqy.2_Silent_p.H205H|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.H147H	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	205	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCGACGACCACGTGCGGAGGA	0.582000												
SNRPA1	6627	broad.mit.edu	37	15	101835369	101835369	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:101835369C>T	uc002bww.2	-	1	92	c.15G>A	c.(13-15)ACG>ACA	p.T5T	SNRPA1_uc002bwx.2_RNA|SNRPA1_uc010bpc.2_RNA	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	5						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			kidney(1)	1	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAGCTCCGCCGTCAGCTTGA	0.751000												
RHBDF1	64285	broad.mit.edu	37	16	109078	109078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:109078C>T	uc002cfl.3	-	20	2190	c.2042G>A	c.(2041-2043)CGG>CAG	p.R681Q		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	681	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTCCAGGTCCCGCAGGACAGT	0.592000												
WFIKKN1	117166	broad.mit.edu	37	16	683442	683442	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:683442C>T	uc002cht.1	+	2	1274	c.1032C>T	c.(1030-1032)TAC>TAT	p.Y344Y	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	344	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				TTGAGACCTACGAGGCATGCC	0.746000												
CACNA1H	8912	broad.mit.edu	37	16	1270781	1270781	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1270781C>T	uc002cks.2	+	35	7097	c.6849C>T	c.(6847-6849)GAC>GAT	p.D2283D	CACNA1H_uc002ckt.2_Silent_p.D2277D|CACNA1H_uc002cku.2_Silent_p.D978D|CACNA1H_uc010brj.2_Silent_p.D994D|CACNA1H_uc002ckv.2_Silent_p.D972D	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2283	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTTTCTTGGACGGTAGCCACA	0.652000												
BAIAP3	8938	broad.mit.edu	37	16	1398109	1398109	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1398109C>T	uc002clk.1	+	33	3267	c.3267C>T	c.(3265-3267)GCC>GCT	p.A1089A	BAIAP3_uc002clj.2_Silent_p.A1071A|BAIAP3_uc010uuz.1_Silent_p.A1054A|BAIAP3_uc010uva.1_Silent_p.A1026A|BAIAP3_uc010uvc.1_Silent_p.A1018A	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1089	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CCGTGCCTGCCGAGGCGTGCC	0.602000												
TMEM204	79652	broad.mit.edu	37	16	1584316	1584316	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1584316G>A	uc002cmc.2	+	2	438	c.40G>A	c.(40-42)GCC>ACC	p.A14T	IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.A14T|TMEM204_uc010brr.1_Missense_Mutation_p.A14T	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	transmembrane protein 204	14	Helical; (Potential).				response to stress	adherens junction|integral to membrane					0		Hepatocellular(780;0.219)				CGTGCTGGTGGCCCTGGTCTC	0.682000												
CRAMP1L	57585	broad.mit.edu	37	16	1709974	1709974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1709974G>A	uc010uvh.1	+	10	2323	c.2323G>A	c.(2323-2325)GTC>ATC	p.V775I	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	775						nucleus	DNA binding				0						GGTGGTGACCGTCAGCTCTCG	0.642000												
HAGH	3029	broad.mit.edu	37	16	1866933	1866933	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1866933G>T	uc002cna.2	-	7	1115	c.708C>A	c.(706-708)CCC>CCA	p.P236P	HAGH_uc002cmz.2_Silent_p.P188P|HAGH_uc010uvp.1_Missense_Mutation_p.P200Q|HAGH_uc002cnb.1_Silent_p.P188P	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	236					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGGCATTGCCGGGCTCCACGT	0.627000												
HS3ST6	64711	broad.mit.edu	37	16	1962139	1962139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:1962139G>A	uc002cnf.2	-	2	388	c.388C>T	c.(388-390)CGA>TGA	p.R130*		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	130											0						GGGGCCTCTCGCGTCACGAAG	0.672000												
ABCA3	21	broad.mit.edu	37	16	2333320	2333320	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:2333320G>A	uc002cpy.1	-	26	4614	c.3902C>T	c.(3901-3903)CCG>CTG	p.P1301L	ABCA3_uc010bsk.1_Missense_Mutation_p.P1243L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1301					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCCGACCCCCGGGGCGCTCCA	0.652000												
NLRC3	197358	broad.mit.edu	37	16	3594291	3594291	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3594291G>A	uc010btn.2	-	17	3221	c.2810C>T	c.(2809-2811)GCG>GTG	p.A937V		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	937	LRR 12.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						ACGGGCCACCGCACACGCTCC	0.577000												
CREBBP	1387	broad.mit.edu	37	16	3781417	3781417	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3781417C>T	uc002cvv.2	-	30	5152	c.4948G>A	c.(4948-4950)GTC>ATC	p.V1650I	CREBBP_uc002cvw.2_Missense_Mutation_p.V1612I	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1650	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGGGGTCGACGATGGGGGGC	0.637000			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
ADCY9	115	broad.mit.edu	37	16	4029168	4029168	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:4029168G>A	uc002cvx.2	-	8	3167	c.2628C>T	c.(2626-2628)CCC>CCT	p.P876P		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	876	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CGGCCAGTGCGGGAAGCGACA	0.582000												
MGRN1	23295	broad.mit.edu	37	16	4731601	4731601	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:4731601G>A	uc002cwz.2	+	13	1318	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A	MGRN1_uc002cxa.2_Silent_p.A394A|MGRN1_uc010btx.2_Silent_p.A373A|MGRN1_uc010btw.2_Silent_p.A373A|MGRN1_uc002cxb.2_Silent_p.A433A|MGRN1_uc010uxo.1_Silent_p.A372A|MGRN1_uc010uxp.1_Silent_p.A372A|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	394					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						TGCTCGAGGCGCTCAACGGCC	0.647000												
KIAA0430	9665	broad.mit.edu	37	16	15718921	15718921	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:15718921G>A	uc002ddr.2	-	9	2256	c.2063C>T	c.(2062-2064)ACG>ATG	p.T688M	KIAA0430_uc002ddq.2_Missense_Mutation_p.T544M|KIAA0430_uc010uzv.1_Missense_Mutation_p.T684M|KIAA0430_uc010uzw.1_Missense_Mutation_p.T686M	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	687						peroxisome	nucleotide binding|RNA binding				0						GTTTTTCGGCGTCGACACTGC	0.493000												
MYH11	4629	broad.mit.edu	37	16	15829334	15829334	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:15829334G>A	uc002ddy.2	-	26	3502	c.3395C>T	c.(3394-3396)GCC>GTC	p.A1132V	MYH11_uc002ddv.2_Missense_Mutation_p.A1139V|MYH11_uc002ddw.2_Missense_Mutation_p.A1132V|MYH11_uc002ddx.2_Missense_Mutation_p.A1139V|MYH11_uc010bvg.2_Missense_Mutation_p.A964V	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1132	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GTTCCTGGCGGCCCGCTCTGA	0.582000			T	CBFB	AML							
ABCC6	368	broad.mit.edu	37	16	16256993	16256993	+	Silent	SNP	C	C	T	rs145693403		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:16256993C>T	uc002den.3	-	24	3400	c.3363G>A	c.(3361-3363)TCG>TCA	p.S1121S	ABCC6_uc010bvo.2_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1121	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		S -> W (in PXE; autosomal dominant).		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGCAGACAGACGAGTAGCTGG	0.582000												
GP2	2813	broad.mit.edu	37	16	20335202	20335202	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:20335202G>A	uc002dgv.2	-	3	554	c.471C>T	c.(469-471)TGC>TGT	p.C157C	GP2_uc002dgw.2_Silent_p.C157C|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	157						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						ACCCGCCTGGGCAGGCCTTCA	0.592000												
ATP2A1	487	broad.mit.edu	37	16	28906225	28906225	+	Missense_Mutation	SNP	C	C	T	rs138880727	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:28906225C>T	uc002dro.1	+	12	1554	c.1370C>T	c.(1369-1371)ACG>ATG	p.T457M	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.T457M|ATP2A1_uc002drp.1_Missense_Mutation_p.T332M	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	457	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTGTTCAACACGGATGTGAGA	0.592000												
HIRIP3	8479	broad.mit.edu	37	16	30004974	30004974	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:30004974C>T	uc002dve.2	-	5	1856	c.1395G>A	c.(1393-1395)GCG>GCA	p.A465A	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Missense_Mutation_p.A153T	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	465					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						TCATGCCTAGCGCTTCCAGTT	0.617000												
ZNF764	92595	broad.mit.edu	37	16	30567397	30567397	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:30567397C>T	uc002dyq.2	-	3	426	c.345G>A	c.(343-345)AGG>AGA	p.R115R	ZNF764_uc002dyr.1_Silent_p.R114R	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	zinc finger protein 764	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCGTCCCTTCCCTTTGTCTTT	0.612000												
LONP2	83752	broad.mit.edu	37	16	48295348	48295348	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:48295348G>A	uc002efi.1	+	5	826	c.737G>A	c.(736-738)CGC>CAC	p.R246H	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R202H	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	246					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						ATAGCAATACGCCCTATTAGG	0.343000												
BBS2	583	broad.mit.edu	37	16	56535332	56535332	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:56535332C>T	uc002ejd.2	-	10	1392	c.1158G>A	c.(1156-1158)ACG>ACA	p.T386T	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	386					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TGACTGAGAGCGTGGTGTGGA	0.517000									Bardet-Biedl_syndrome			
GPR114	221188	broad.mit.edu	37	16	57600565	57600565	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:57600565T>C	uc002elx.3	+	7	686	c.601T>C	c.(601-603)TGG>CGG	p.W201R	GPR114_uc010vhr.1_Missense_Mutation_p.W201R|GPR114_uc002ely.2_Missense_Mutation_p.W201R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	201	Extracellular (Potential).|GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						GAAACAGCCCTGGGGGGGCTG	0.607000												
TEPP	374739	broad.mit.edu	37	16	58018678	58018678	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:58018678G>A	uc002emw.3	+	4	626	c.589G>A	c.(589-591)GCC>ACC	p.A197T	TEPP_uc002emv.3_Missense_Mutation_p.A197T	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	197						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						CGTGTCCTCGGCCGGGGAGTT	0.682000												
C16orf57	79650	broad.mit.edu	37	16	58036445	58036445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:58036445C>T	uc002emz.2	+	2	244	c.161C>T	c.(160-162)CCG>CTG	p.P54L	ZNF319_uc002emx.1_5'Flank|C16orf57_uc010via.1_Missense_Mutation_p.P54L|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.P54L|C16orf57_uc010vic.1_Missense_Mutation_p.P3L	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	54											0						AACATGTTCCCGGGCACCGAG	0.552000												
CDH16	1014	broad.mit.edu	37	16	66943236	66943236	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:66943236G>A	uc002eql.2	-	17	2399	c.2326C>T	c.(2326-2328)CGC>TGC	p.R776C	CDH16_uc010cdy.2_Missense_Mutation_p.R754C|CDH16_uc002eqm.2_Missense_Mutation_p.R679C	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	776	Extracellular (Potential).|Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCCTTCATGCGGCCCACCTTG	0.488000												
RRAD	6236	broad.mit.edu	37	16	66959057	66959057	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:66959057C>A	uc002eqn.2	-	2	178	c.26G>T	c.(25-27)GGA>GTA	p.G9V	RRAD_uc002eqo.2_Missense_Mutation_p.G9V	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	9					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CCCGCCCGCTCCGCTGCCGCC	0.786000												
ELMO3	79767	broad.mit.edu	37	16	67237066	67237066	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:67237066C>T	uc002esa.2	+	17	1922	c.1879C>T	c.(1879-1881)CAG>TAG	p.Q627*	ELMO3_uc002esb.2_Nonsense_Mutation_p.Q610*|ELMO3_uc002esc.2_Nonsense_Mutation_p.Q461*|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	574	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CAAGCTGCTGCAGTACGGAGA	0.642000												
FAM65A	79567	broad.mit.edu	37	16	67579579	67579579	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:67579579G>A	uc010vjp.1	+	19	3359	c.3263G>A	c.(3262-3264)CGG>CAG	p.R1088Q	FAM65A_uc002eth.2_Missense_Mutation_p.R1068Q|FAM65A_uc010cej.2_Missense_Mutation_p.R1071Q|FAM65A_uc010vjq.1_Missense_Mutation_p.R1082Q|FAM65A_uc002etk.2_Missense_Mutation_p.R1066Q	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	1072						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)		CTACTGGTGCGGAATCTGAAC	0.632000												
FAM65A	79567	broad.mit.edu	37	16	67579655	67579655	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:67579655C>T	uc010vjp.1	+	19	3435	c.3339C>T	c.(3337-3339)GAC>GAT	p.D1113D	FAM65A_uc002eth.2_Silent_p.D1093D|FAM65A_uc010cej.2_Silent_p.D1096D|FAM65A_uc010vjq.1_Silent_p.D1107D|FAM65A_uc002etk.2_Silent_p.D1091D	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	1097						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)		TGCGAAGGGACGGGCTGCGGG	0.622000												
TSNAXIP1	55815	broad.mit.edu	37	16	67860159	67860159	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:67860159C>T	uc002euj.2	+	10	1481	c.1087C>T	c.(1087-1089)CGG>TGG	p.R363W	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.R240W|TSNAXIP1_uc002euf.3_Missense_Mutation_p.R96W|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R417W|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R348W|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R71W|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R71W|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R71W|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R96W	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	363					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGGGCTGCTGCGGGAGAAAGA	0.632000												
DDX28	55794	broad.mit.edu	37	16	68057092	68057092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:68057092C>T	uc002evh.1	-	1	868	c.14G>A	c.(13-15)CGG>CAG	p.R5Q	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	5	Mitochondrial targeting signal (Potential).					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CCGCACCGGCCGCGTTAGAGC	0.682000												
SMPD3	55512	broad.mit.edu	37	16	68405944	68405944	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:68405944C>T	uc002ewa.2	-	3	563	c.141G>A	c.(139-141)CAG>CAA	p.Q47Q	SMPD3_uc010cfe.2_Silent_p.Q47Q|SMPD3_uc010vlh.1_Silent_p.Q47Q	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	47	Cytoplasmic (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CGTCTGCCCGCTGGCGCTTCT	0.647000												
AARS	16	broad.mit.edu	37	16	70295027	70295027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:70295027G>A	uc002eyn.1	-	13	1815	c.1705C>T	c.(1705-1707)CGA>TGA	p.R569*	AARS_uc010vlu.1_Nonsense_Mutation_p.R399*	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	569					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TACCCTCCTCGGACCTGAGCA	0.418000												
HYDIN	54768	broad.mit.edu	37	16	70866938	70866938	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:70866938T>C	uc002ezr.2	-	80	13837	c.13709A>G	c.(13708-13710)CAT>CGT	p.H4570R	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4571										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AATGGAGAAATGAGGCTCAAA	0.418000												
PLCG2	5336	broad.mit.edu	37	16	81929443	81929443	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:81929443G>A	uc002fgt.2	+	13	1256	c.1104G>A	c.(1102-1104)CCG>CCA	p.P368P	PLCG2_uc010chg.1_Silent_p.P368P	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	368	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						ATGGGAAGCCGGTCATCTACC	0.602000												
KLHL36	79786	broad.mit.edu	37	16	84695452	84695452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:84695452C>T	uc002fig.2	+	5	1705	c.1564C>T	c.(1564-1566)CAG>TAG	p.Q522*	KLHL36_uc010chl.2_Nonsense_Mutation_p.Q458*|uc002fih.2_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	522	Kelch 5.									skin(2)	2						CTACAGCCCGCAGTGCAACCA	0.667000												
FBXO31	79791	broad.mit.edu	37	16	87376516	87376516	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:87376516C>T	uc002fjw.2	-	5	743	c.699G>A	c.(697-699)ACG>ACA	p.T233T	FBXO31_uc010vot.1_Silent_p.T61T|FBXO31_uc002fjv.2_Silent_p.T125T	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	233					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGTGGTGGTCCGTCTGGTTGC	0.547000												
ANKRD11	29123	broad.mit.edu	37	16	89347376	89347376	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:89347376C>T	uc002fmx.1	-	9	6035	c.5574G>A	c.(5572-5574)CCG>CCA	p.P1858P	ANKRD11_uc002fmy.1_Silent_p.P1858P|ANKRD11_uc002fnc.1_Silent_p.P1858P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.P1815P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1858	Pro-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTGGGCGACGGGAGGCCAT	0.622000												
ANKRD11	29123	broad.mit.edu	37	16	89350961	89350961	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:89350961G>C	uc002fmx.1	-	9	2450	c.1989C>G	c.(1987-1989)GAC>GAG	p.D663E	ANKRD11_uc002fmy.1_Missense_Mutation_p.D663E|ANKRD11_uc002fnc.1_Missense_Mutation_p.D663E|ANKRD11_uc002fnb.1_Missense_Mutation_p.D620E	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	663	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGCTTGGAGTCCTCATATT	0.368000												
PRPF8	10594	broad.mit.edu	37	17	1587865	1587865	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:1587865T>C	uc002fte.2	-	2	115	c.1A>G	c.(1-3)ATG>GTG	p.M1V		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACTCCGGCCATATCCGGAGAA	0.627000												
HIC1	3090	broad.mit.edu	37	17	1961105	1961105	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:1961105G>A	uc010cjy.2	+	2	1178	c.1178G>A	c.(1177-1179)GGC>GAC	p.G393D	HIC1_uc002fty.3_Missense_Mutation_p.G374D|HIC1_uc002ftz.3_Missense_Mutation_p.G374D	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	393					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		GGCGGCGACGGCGACGACTAC	0.587000												
SMG6	23293	broad.mit.edu	37	17	2186925	2186925	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:2186925C>A	uc002fub.1	-	7	2497	c.2442G>T	c.(2440-2442)AAG>AAT	p.K814N		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	814					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						TCACCTTCCGCTTGGTCTCTT	0.448000												
PLD2	5338	broad.mit.edu	37	17	4720288	4720288	+	Missense_Mutation	SNP	G	G	A	rs138719274		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:4720288G>A	uc002fzc.2	+	16	1740	c.1639G>A	c.(1639-1641)GTC>ATC	p.V547I	PLD2_uc010vsj.1_Missense_Mutation_p.V404I|PLD2_uc002fzd.2_Missense_Mutation_p.V547I	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	547	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	TGGGGTGGTCGTCCATGGCCT	0.632000												
ZNF594	84622	broad.mit.edu	37	17	5085734	5085734	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:5085734A>G	uc010cla.1	-	2	1974	c.1818T>C	c.(1816-1818)AAT>AAC	p.N606N		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	606	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						CTGAGCTCTGATTGAAAGTTT	0.418000												
DHX33	56919	broad.mit.edu	37	17	5359340	5359340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:5359340G>A	uc002gca.2	-	5	1014	c.1012C>T	c.(1012-1014)CGA>TGA	p.R338*	DHX33_uc002gbz.2_Nonsense_Mutation_p.R109*|DHX33_uc002gcb.2_Nonsense_Mutation_p.R165*|DHX33_uc010clf.2_Missense_Mutation_p.P151L	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	338	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						TGGAAGACTCGGAGCTGCTGT	0.607000												
NLGN2	57555	broad.mit.edu	37	17	7320418	7320418	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:7320418A>T	uc002ggt.1	+	7	1881	c.1808A>T	c.(1807-1809)GAG>GTG	p.E603V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	603	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				TTCTGGCTGGAGCTCGTGCCC	0.642000												
C17orf74	201243	broad.mit.edu	37	17	7330302	7330302	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:7330302A>G	uc002ggw.2	+	3	1065	c.992A>G	c.(991-993)AAC>AGC	p.N331S	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	331						integral to membrane					0		Prostate(122;0.157)				GTGTCCCGGAACGCCCGGCCT	0.692000												
MYH10	4628	broad.mit.edu	37	17	8445463	8445463	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:8445463G>A	uc002gll.2	-	13	1633	c.1537C>T	c.(1537-1539)CTG>TTG	p.L513L	MYH10_uc002glm.2_Silent_p.L523L|MYH10_uc010cnx.2_Silent_p.L522L	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	513	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TGCAGATCCAGCCCGAAATCG	0.488000												
RCVRN	5957	broad.mit.edu	37	17	9804374	9804374	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:9804374G>A	uc002gme.1	-	2	612	c.425C>T	c.(424-426)CCA>CTA	p.P142L		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	142					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						TTCATCGTCTGGAAGGAGCTT	0.448000												
MYO15A	51168	broad.mit.edu	37	17	18023035	18023035	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:18023035C>T	uc010vxh.1	+	2	1259	c.921C>T	c.(919-921)TAC>TAT	p.Y307Y		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	307	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCTACGGCTACGGCTACGACG	0.617000												
DHRS7B	25979	broad.mit.edu	37	17	21087727	21087727	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:21087727C>T	uc002gyo.2	+	5	597	c.570C>T	c.(568-570)GTC>GTT	p.V190V		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	190	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1						GCCACATTGTCGCCATCAGCA	0.507000												
NOS2	4843	broad.mit.edu	37	17	26107875	26107875	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:26107875C>T	uc002gzu.2	-	9	1186	c.922G>A	c.(922-924)GTC>ATC	p.V308I	NOS2_uc010crh.1_Missense_Mutation_p.V308I|NOS2_uc010wab.1_Missense_Mutation_p.V308I	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	308					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCCTGCAGGACCAGGGGGACC	0.612000												
SDF2	6388	broad.mit.edu	37	17	26976285	26976285	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:26976285C>A	uc002hbw.2	-	3	397	c.358G>T	c.(358-360)GCT>TCT	p.A120S	SDF2_uc002hbx.2_RNA	NM_006923	NP_008854	Q99470	SDF2_HUMAN	stromal cell-derived factor 2 precursor	120	MIR 2.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity				0	Lung NSC(42;0.00431)					TCACCAAAAGCACTCACTTCC	0.488000												
SUPT6H	6830	broad.mit.edu	37	17	27010016	27010016	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:27010016A>G	uc002hby.2	+	15	1874	c.1784A>G	c.(1783-1785)CAG>CGG	p.Q595R	SUPT6H_uc010crt.2_Missense_Mutation_p.Q595R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	595					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GTAGCCCTGCAGATTGCCCGT	0.557000												
NEK8	284086	broad.mit.edu	37	17	27068463	27068463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:27068463C>T	uc002hcp.2	+	14	1924	c.1924C>T	c.(1924-1926)CGA>TGA	p.R642*	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	642	RCC1 5.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					CAAAGGGGCGCGAGGTCGATT	0.612000												
PHF12	57649	broad.mit.edu	37	17	27248731	27248731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:27248731C>T	uc002hdg.1	-	5	1341	c.811G>A	c.(811-813)GTC>ATC	p.V271I	PHF12_uc010wbb.1_Missense_Mutation_p.V253I|PHF12_uc002hdi.1_Missense_Mutation_p.V267I|PHF12_uc002hdj.1_Missense_Mutation_p.V271I|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Missense_Mutation_p.V54I	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	271	PHD-type 2; atypical.|Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAGACTTTGACGGGTAAGGGA	0.408000												
PIPOX	51268	broad.mit.edu	37	17	27380441	27380441	+	Missense_Mutation	SNP	G	G	A	rs142705261		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:27380441G>A	uc002hdr.1	+	4	814	c.488G>A	c.(487-489)CGA>CAA	p.R163Q		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	163					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GATGCAATTCGACAGCTAGGA	0.527000												
CCDC55	84081	broad.mit.edu	37	17	28512115	28512116	+	Missense_Mutation	DNP	CG	CG	TA	rs145576936	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:28512115_28512116CG>TA	uc002heu.2	+	7	1128_1129	c.1100_1101CG>TA	c.(1099-1101)GCG>GTA	p.A367V	CCDC55_uc002hev.2_Missense_Mutation_p.A313V|CCDC55_uc010wbl.1_Missense_Mutation_p.A313V|CCDC55_uc010wbm.1_Missense_Mutation_p.A313V|CCDC55_uc002hex.2_Missense_Mutation_p.A313V	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	367					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0						AAACCAAGGGCGAGGGACCAAA	0.322000												
TMEM132E	124842	broad.mit.edu	37	17	32957082	32957082	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:32957082T>A	uc002hif.2	+	6	1452	c.1124T>A	c.(1123-1125)GTC>GAC	p.V375D		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	375	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCATCCCTGTCAAGGTCATT	0.572000												
GGNBP2	79893	broad.mit.edu	37	17	34912960	34912960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:34912960C>T	uc002hnb.2	+	4	461	c.212C>T	c.(211-213)GCC>GTC	p.A71V	GGNBP2_uc002hna.2_Missense_Mutation_p.A71V	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	71					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CTAAGTATTGCCATGGTGGTG	0.443000												
GRB7	2886	broad.mit.edu	37	17	37898828	37898828	+	Silent	SNP	A	A	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:37898828A>T	uc002hsr.2	+	3	415	c.165A>T	c.(163-165)CGA>CGT	p.R55R	GRB7_uc002hss.2_Silent_p.R55R|GRB7_uc010cwc.2_Silent_p.R55R|GRB7_uc002hst.2_Silent_p.R55R	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	55					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGAAACTTCGAGAGGAGGAGA	0.602000												
GSDMA	284110	broad.mit.edu	37	17	38126892	38126892	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:38126892G>A	uc002htl.1	+	4	668	c.550G>A	c.(550-552)GGG>AGG	p.G184R	GSDMA_uc002htm.1_Missense_Mutation_p.G184R	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	184				APLGLQ -> LPIGAT (in Ref. 2; AAL14426).	apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						CGCCCCATTGGGGCTACAGGT	0.428000												
KRT39	390792	broad.mit.edu	37	17	39123030	39123030	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:39123030T>C	uc002hvo.1	-	1	115	c.79A>G	c.(79-81)ACC>GCC	p.T27A	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	27	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				GAAGAGATGGTACTAACATTT	0.483000												
KRTAP4-12	83755	broad.mit.edu	37	17	39280073	39280073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:39280073C>T	uc002hwa.2	-	1	347	c.302G>A	c.(301-303)TGC>TAC	p.C101Y		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	101	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].|18.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGGGCGGCAGCAGGTGGG	0.468000												
KRT33A	3883	broad.mit.edu	37	17	39505608	39505608	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:39505608A>G	uc002hwk.1	-	2	458	c.421T>C	c.(421-423)TTC>CTC	p.F141L		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	141	Rod.|Coil 1B.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				TTGGTCCTGAAGTCATCTGAG	0.488000												
ATP6V0A1	535	broad.mit.edu	37	17	40666353	40666353	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:40666353C>T	uc002hzr.2	+	21	2462	c.2295C>T	c.(2293-2295)AGC>AGT	p.S765S	ATP6V0A1_uc002hzq.2_Silent_p.S759S|ATP6V0A1_uc002hzs.2_Silent_p.S766S|ATP6V0A1_uc010wgj.1_Silent_p.S722S|ATP6V0A1_uc010wgk.1_Silent_p.S716S|ATP6V0A1_uc010cyg.2_Silent_p.S411S|ATP6V0A1_uc010wgl.1_Silent_p.S624S|ATP6V0A1_uc002hzt.2_Silent_p.S49S	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	765	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCGGCCTGAGCGTGAAGAGCT	0.572000												
CCR10	2826	broad.mit.edu	37	17	40832215	40832215	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:40832215C>T	uc002iax.3	-	2	449	c.445G>A	c.(445-447)GGG>AGG	p.G149R	CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	149	Cytoplasmic (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGCCGCGGCCCGGCTGGGAGC	0.692000												
MPP3	4356	broad.mit.edu	37	17	41891388	41891388	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:41891388C>T	uc002iei.3	-	16	1412	c.1246G>A	c.(1246-1248)GCT>ACT	p.A416T	MPP3_uc002ieh.2_Missense_Mutation_p.A441T|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	416	Guanylate kinase-like.				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)		CGTGGAACAGCGACGCCAAAG	0.537000												
SLC4A1	6521	broad.mit.edu	37	17	42335473	42335473	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:42335473C>T	uc002igf.3	-	11	1312	c.1163G>A	c.(1162-1164)CGC>CAC	p.R388H	SLC4A1_uc002igg.3_Missense_Mutation_p.R388H	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	388	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGGTAGCGGCGCCGGATATC	0.582000												
GFAP	2670	broad.mit.edu	37	17	42992767	42992767	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:42992767G>A	uc002ihq.2	-	1	148	c.88C>T	c.(88-90)CGT>TGT	p.R30C	GFAP_uc002ihr.2_Missense_Mutation_p.R30C|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	30	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				GGACCCAGACGGCGGCCAGGA	0.672000												
PLCD3	113026	broad.mit.edu	37	17	43196237	43196237	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:43196237G>A	uc002iib.2	-	5	972	c.858C>T	c.(856-858)GGC>GGT	p.G286G		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	286					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CCAGTGTGGCGCCCTCCTCGC	0.483000												
MAP3K14	9020	broad.mit.edu	37	17	43362236	43362236	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:43362236G>A	uc002iiw.1	-	7	1342	c.1233C>T	c.(1231-1233)TTC>TTT	p.F411F	MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	411	Interaction with ZFP91.|ATP (By similarity).|Protein kinase.				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						GCACCTCTCCGAAGGAGCCTC	0.592000												
SP6	80320	broad.mit.edu	37	17	45925675	45925675	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:45925675C>T	uc002img.1	-	2	453	c.121G>A	c.(121-123)GGG>AGG	p.G41R	SP6_uc002imh.1_Missense_Mutation_p.G41R	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGTAGTCCCCGGCCTCAGGG	0.711000												
CHAD	1101	broad.mit.edu	37	17	48546095	48546095	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:48546095C>T	uc010dbr.2	-	1	133	c.80G>A	c.(79-81)TGC>TAC	p.C27Y	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.C27Y|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	27	LRRNT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTGGCAGTGGCAGTTCTGGGG	0.667000												
ABCC3	8714	broad.mit.edu	37	17	48757227	48757227	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:48757227G>A	uc002isl.2	+	26	3854	c.3774G>A	c.(3772-3774)GAG>GAA	p.E1258E	ABCC3_uc002isn.2_Silent_p.E12E	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1258	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGCTGTGGAGAGGGTCAAGG	0.522000												
CYB561	1534	broad.mit.edu	37	17	61514812	61514812	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:61514812C>T	uc002jap.2	-	1	499	c.97G>A	c.(97-99)GCG>ACG	p.A33T	CYB561_uc002jaq.2_Missense_Mutation_p.A79T|CYB561_uc002jar.2_Missense_Mutation_p.A33T|CYB561_uc002jas.2_Missense_Mutation_p.A33T|CYB561_uc010ddt.2_Missense_Mutation_p.A33T|CYB561_uc002jat.2_Missense_Mutation_p.A33T|CYB561_uc010wpf.1_Missense_Mutation_p.A33T|CYB561_uc010wpg.1_Missense_Mutation_p.A4T	NM_001915	NP_001906	P49447	CY561_HUMAN	cytochrome b-561	33	Helical; (Potential).|Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(1115;0.0689)		CCGAGCCACGCGCCGGTCATG	0.677000												
KCNH6	81033	broad.mit.edu	37	17	61615881	61615881	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:61615881C>T	uc002jay.2	+	8	1892	c.1812C>T	c.(1810-1812)CGC>CGT	p.R604R	KCNH6_uc010wpl.1_Silent_p.R481R|KCNH6_uc010wpm.1_Silent_p.R604R|KCNH6_uc002jaz.1_Silent_p.R551R	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	604	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GCTGCCTGCGCGCGCTAGCCG	0.682000												
SCN4A	6329	broad.mit.edu	37	17	62018409	62018409	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:62018409G>A	uc002jds.1	-	24	5310	c.5233C>T	c.(5233-5235)CGC>TGC	p.R1745C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1745	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TTCATGGAGCGCTGTAGCAGG	0.622000												
SCN4A	6329	broad.mit.edu	37	17	62019281	62019281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:62019281C>T	uc002jds.1	-	24	4438	c.4361G>A	c.(4360-4362)CGG>CAG	p.R1454Q		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1454	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	ACGCCCAATCCGCGCCAGGCG	0.642000												
ABCA5	23461	broad.mit.edu	37	17	67303002	67303002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:67303002G>A	uc002jif.2	-	5	1870	c.652C>T	c.(652-654)CGA>TGA	p.R218*	ABCA5_uc002jig.2_Nonsense_Mutation_p.R218*|ABCA5_uc002jih.2_Nonsense_Mutation_p.R218*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.R218*	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	218					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					ATTACTCCTCGGGGAAAGGTA	0.323000												
SSTR2	6752	broad.mit.edu	37	17	71166221	71166221	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:71166221A>G	uc002jje.2	+	2	1123	c.763A>G	c.(763-765)ACC>GCC	p.T255A		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	255	Helical; Name=6; (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			GAAGAAGGTCACCCGAATGGT	0.507000												
ICT1	3396	broad.mit.edu	37	17	73008887	73008887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:73008887G>A	uc002jmm.2	+	1	108	c.106G>A	c.(106-108)GGC>AGC	p.G36S		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1 precursor	36					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)|central_nervous_system(1)	2	all_lung(278;0.226)					GCAGAAAGACGGCACTGAGTT	0.682000											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZACN	353174	broad.mit.edu	37	17	74077483	74077483	+	Silent	SNP	G	G	A	rs145200784	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:74077483G>A	uc002jqn.2	+	6	752	c.669G>A	c.(667-669)ACG>ACA	p.T223T	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	223	Extracellular (Potential).				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						TCCAGGTGACGGTGAGTCAAG	0.617000												
PRPSAP1	5635	broad.mit.edu	37	17	74324855	74324855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:74324855G>A	uc010wta.1	-	7	1170	c.724C>T	c.(724-726)CGT>TGT	p.R242C	PRPSAP1_uc010wtb.1_Missense_Mutation_p.R139C	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	213					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						GGGGAGTGACGACCATCGTCC	0.507000												
DNAH17	8632	broad.mit.edu	37	17	76421587	76421587	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:76421587G>A	uc010dhp.1	-	25	4203	c.3981C>T	c.(3979-3981)AAC>AAT	p.N1327N	DNAH17_uc002jvq.2_Silent_p.N612N|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACGACTGGGGGTTGAAGAAGC	0.602000												
USP36	57602	broad.mit.edu	37	17	76800028	76800028	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:76800028C>T	uc002jvz.1	-	16	2574	c.2249G>A	c.(2248-2250)CGC>CAC	p.R750H	USP36_uc002jwa.1_Missense_Mutation_p.R750H|USP36_uc002jwb.1_Intron|USP36_uc002jwc.1_Missense_Mutation_p.R450H|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	750					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGGTTGCAGGCGGCTGGATGA	0.622000												
RPTOR	57521	broad.mit.edu	37	17	78704481	78704481	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:78704481C>T	uc002jyt.1	+	5	1434	c.629C>T	c.(628-630)GCA>GTA	p.A210V	RPTOR_uc002jys.2_Missense_Mutation_p.A210V|RPTOR_uc010wuf.1_Missense_Mutation_p.A25V|RPTOR_uc010wug.1_Missense_Mutation_p.A210V	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	210					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						AAGCAGTTCGCACTACAGCGG	0.582000												
RAC3	5881	broad.mit.edu	37	17	79991680	79991680	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:79991680C>T	uc002kdf.2	+	6	660	c.554C>T	c.(553-555)CCG>CTG	p.P185L		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	185					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTGAAGAAGCCGGGGAAGAAG	0.652000												
GPS1	2873	broad.mit.edu	37	17	80012606	80012606	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:80012606G>A	uc002kdl.1	+	4	586	c.541G>A	c.(541-543)GCC>ACC	p.A181T	RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.A217T|GPS1_uc010dij.1_Missense_Mutation_p.A217T|GPS1_uc002kdm.1_Missense_Mutation_p.A161T|GPS1_uc002kdn.1_Missense_Mutation_p.A177T|GPS1_uc002kdo.1_Missense_Mutation_p.A181T|GPS1_uc010wvh.1_Missense_Mutation_p.A173T	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	181					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTCAGCAACGCCCTCAAGTG	0.612000												
GPS1	2873	broad.mit.edu	37	17	80014794	80014794	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:80014794C>T	uc002kdl.1	+	12	1390	c.1345C>T	c.(1345-1347)CGC>TGC	p.R449C	GPS1_uc002kdk.1_Missense_Mutation_p.R485C|GPS1_uc010dij.1_Missense_Mutation_p.R484C|GPS1_uc002kdm.1_Missense_Mutation_p.R429C|GPS1_uc002kdn.1_Missense_Mutation_p.R445C|GPS1_uc002kdo.1_Missense_Mutation_p.R448C|GPS1_uc010wvh.1_Missense_Mutation_p.R441C	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	449					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GTTCCAGCGCCGCGCCAAGGC	0.642000												
UTS2R	2837	broad.mit.edu	37	17	80332696	80332696	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:80332696C>T	uc010wvl.1	+	1	496	c.496C>T	c.(496-498)CGC>TGC	p.R166C		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	166	Cytoplasmic (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CAAGGGCTACCGCAAGCTGCT	0.701000												
ZNF750	79755	broad.mit.edu	37	17	80789902	80789902	+	Silent	SNP	C	C	T	rs142460137		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:80789902C>T	uc002kga.2	-	2	740	c.429G>A	c.(427-429)CCG>CCA	p.P143P	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	143						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGCGGCTTCCGGAGCTGGGC	0.647000												
EPB41L3	23136	broad.mit.edu	37	18	5394709	5394709	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:5394709C>A	uc002kmt.1	-	22	3323	c.3237G>T	c.(3235-3237)GAG>GAT	p.E1079D	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.E857D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E748D|EPB41L3_uc002kms.1_Missense_Mutation_p.E314D|EPB41L3_uc010wze.1_Missense_Mutation_p.E384D|EPB41L3_uc010wzf.1_Missense_Mutation_p.E376D|EPB41L3_uc010wzg.1_Missense_Mutation_p.E351D|EPB41L3_uc010dkr.2_Missense_Mutation_p.E471D	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1079	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CTGGTGTGATCTCTGTCTCTT	0.527000												
EPB41L3	23136	broad.mit.edu	37	18	5428401	5428401	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:5428401G>A	uc002kmt.1	-	9	1062	c.976C>T	c.(976-978)CGG>TGG	p.R326W	EPB41L3_uc010wzh.1_Missense_Mutation_p.R326W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R326W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R217W|EPB41L3_uc010dks.1_Missense_Mutation_p.R348W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						ATTCGCAGCCGGTCGCGATAT	0.418000												
LAMA1	284217	broad.mit.edu	37	18	6958568	6958568	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:6958568G>A	uc002knm.2	-	55	7966	c.7872C>T	c.(7870-7872)TAC>TAT	p.Y2624Y	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.Y77Y|LAMA1_uc010wzj.1_Silent_p.Y2100Y	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2624	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCCCCGACGTACAGATTGG	0.433000												
PTPRM	5797	broad.mit.edu	37	18	8085713	8085713	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:8085713A>G	uc002knn.3	+	10	2099	c.1596A>G	c.(1594-1596)TTA>TTG	p.L532L	PTPRM_uc010dkv.2_Silent_p.L532L|PTPRM_uc010wzl.1_Silent_p.L319L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	532	Fibronectin type-III 3.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				AAATAGATTTATCCAATCAGA	0.408000												
C18orf1	753	broad.mit.edu	37	18	13438332	13438332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:13438332G>A	uc002ksa.2	+	4	798	c.130G>A	c.(130-132)GAA>AAA	p.E44K	C18orf1_uc002ksb.2_Missense_Mutation_p.E44K	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	44	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		CAACAGTGACGAAGAGAACTG	0.512000												
KCTD1	284252	broad.mit.edu	37	18	24056602	24056602	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:24056602A>G	uc002kvw.2	-	3	746	c.186T>C	c.(184-186)GGT>GGC	p.G62G	KCTD1_uc010xbj.1_Silent_p.G670G|KCTD1_uc010xbk.1_Silent_p.G62G|KCTD1_uc002kvy.2_5'UTR	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	62	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TGGGCTCTGTACCATCAAAAA	0.388000												
GALNT1	2589	broad.mit.edu	37	18	33263466	33263466	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:33263466C>A	uc010dmu.2	+	5	646	c.593C>A	c.(592-594)GCT>GAT	p.A198D	GALNT1_uc002kyz.3_Missense_Mutation_p.A138D|GALNT1_uc002kzb.2_Missense_Mutation_p.A198D	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	198	Lumenal (Potential).|Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						AAAGGAGCTGCTGTGTCTAAA	0.443000												
RPRD1A	55197	broad.mit.edu	37	18	33606891	33606891	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:33606891G>A	uc002kzf.1	-	6	767	c.761C>T	c.(760-762)GCC>GTC	p.A254V	RPRD1A_uc002kze.1_Missense_Mutation_p.A218V|RPRD1A_uc002kzg.2_Missense_Mutation_p.A254V|RPRD1A_uc010dmw.2_Missense_Mutation_p.A218V|RPRD1A_uc010dmx.2_Missense_Mutation_p.A254V	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	254	Potential.									ovary(1)|breast(1)	2						CTCTGCAAGGGCTTCCTTTTG	0.343000												
FHOD3	80206	broad.mit.edu	37	18	34174753	34174753	+	Missense_Mutation	SNP	C	C	T	rs149572147		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:34174753C>T	uc002kzt.1	+	7	707	c.610C>T	c.(610-612)CGC>TGC	p.R204C	FHOD3_uc002kzr.1_Missense_Mutation_p.R204C|FHOD3_uc002kzs.1_Missense_Mutation_p.R204C|FHOD3_uc002kzu.1_Missense_Mutation_p.R29C|FHOD3_uc010dmz.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	204	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGCCAGTTCCGCCTGGTGGT	0.547000												
FHOD3	80206	broad.mit.edu	37	18	34340642	34340642	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:34340642G>A	uc002kzt.1	+	22	4018	c.3921G>A	c.(3919-3921)GCG>GCA	p.A1307A	FHOD3_uc002kzs.1_Silent_p.A1324A|FHOD3_uc010dmz.1_Silent_p.A1039A|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1307					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGAGGACGCGGCTGAGCACG	0.657000												
KIAA1328	57536	broad.mit.edu	37	18	34647292	34647292	+	Missense_Mutation	SNP	G	G	A	rs151123484	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:34647292G>A	uc002kzz.2	+	7	1038	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	KIAA1328_uc002lab.2_Missense_Mutation_p.R55Q|KIAA1328_uc002lac.1_Missense_Mutation_p.R162Q|KIAA1328_uc010dnc.1_RNA|KIAA1328_uc002lad.2_Missense_Mutation_p.R55Q	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	339										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		AGTTATTGTCGGCTTTCTTGG	0.463000												
ME2	4200	broad.mit.edu	37	18	48442541	48442541	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:48442541A>G	uc002ley.2	+	5	652	c.396A>G	c.(394-396)GGA>GGG	p.G132G	ME2_uc010dpd.2_Silent_p.G132G	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	132					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTTGCAGGGGATTATTTATTT	0.318000												
TNFRSF11A	8792	broad.mit.edu	37	18	60021739	60021739	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:60021739C>T	uc002lin.2	+	4	437	c.399C>T	c.(397-399)TGC>TGT	p.C133C	TNFRSF11A_uc010dpv.2_Silent_p.C133C	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	133	Extracellular (Potential).|TNFR-Cys 3.	Sodium; via carbonyl oxygen (By similarity).			adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				ACACCGAGTGCGCGCCGGGCC	0.677000									Paget_Disease_of_Bone			
NETO1	81832	broad.mit.edu	37	18	70526122	70526122	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:70526122T>A	uc002lkw.2	-	4	692	c.408A>T	c.(406-408)AAA>AAT	p.K136N	NETO1_uc002lkx.1_Missense_Mutation_p.K135N|NETO1_uc002lky.1_Missense_Mutation_p.K136N|NETO1_uc002lkz.2_Missense_Mutation_p.K135N	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	136	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGCAAAAAATTTAATCCATA	0.353000												
ZADH2	284273	broad.mit.edu	37	18	72913820	72913820	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:72913820C>T	uc002llx.2	-	2	953	c.685G>A	c.(685-687)GTA>ATA	p.V229I	ZADH2_uc010dqv.2_Missense_Mutation_p.V106I	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	229						peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		ACGGTACCTACGGGTTCAGTT	0.478000												
ZNF236	7776	broad.mit.edu	37	18	74639294	74639294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:74639294C>T	uc002lmi.2	+	24	4427	c.4229C>T	c.(4228-4230)ACG>ATG	p.T1410M	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1410					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGCAGCTCACGGGGGAGCCT	0.552000												
C19orf21	126353	broad.mit.edu	37	19	758107	758107	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:758107C>T	uc002lpo.2	+	2	1244	c.1161C>T	c.(1159-1161)CCC>CCT	p.P387P		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	387										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GTCCCCAGCCCGGACTCCGGA	0.677000												
SBNO2	22904	broad.mit.edu	37	19	1119081	1119081	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:1119081C>T	uc002lrk.3	-	14	1694	c.1456G>A	c.(1456-1458)GTC>ATC	p.V486I	SBNO2_uc002lrj.3_Missense_Mutation_p.V429I|SBNO2_uc010dse.2_Missense_Mutation_p.V479I|SBNO2_uc010xgj.1_Intron|SBNO2_uc010dsf.2_Missense_Mutation_p.V429I	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	486					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-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)		CGGAAGGTGACGCCGGAGAAG	0.677000												
PCSK4	54760	broad.mit.edu	37	19	1487181	1487181	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:1487181C>T	uc002ltb.1	-	7	876	c.814G>A	c.(814-816)GGC>AGC	p.G272S	PCSK4_uc002lta.2_Missense_Mutation_p.G84S	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	272	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GTGAGGATGCCGGGGCCGTCC	0.721000												
REXO1	57455	broad.mit.edu	37	19	1817235	1817235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:1817235C>T	uc002lua.3	-	12	3279	c.3184G>A	c.(3184-3186)GCC>ACC	p.A1062T	REXO1_uc010dsq.2_Missense_Mutation_p.A371T|REXO1_uc010xgs.1_Missense_Mutation_p.A48T|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	1062	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		CAGTCCAGGGCGTAGATCCCC	0.647000												
AP3D1	8943	broad.mit.edu	37	19	2110223	2110223	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:2110223C>T	uc002luz.2	-	26	3213	c.2990G>A	c.(2989-2991)GGC>GAC	p.G997D	AP3D1_uc010dsv.2_Missense_Mutation_p.G87D|AP3D1_uc002luy.2_Missense_Mutation_p.G956D|AP3D1_uc002lva.2_Missense_Mutation_p.G1059D	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	997					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		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)		GTTGGAGACGCCTGGCGGGGG	0.627000												
DOHH	83475	broad.mit.edu	37	19	3496787	3496787	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:3496787G>A	uc002lxs.2	-	2	189	c.26C>T	c.(25-27)GCC>GTC	p.A9V	DOHH_uc010xhl.1_Missense_Mutation_p.A9V	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	9					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCCGATGGCATCCACCTC	0.672000												
C19orf29	58509	broad.mit.edu	37	19	3613180	3613180	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:3613180G>A	uc002lyh.2	-	9	1715	c.1662C>T	c.(1660-1662)TAC>TAT	p.Y554Y	C19orf29_uc010xho.1_Silent_p.Y13Y|C19orf29_uc010dtn.2_Silent_p.Y402Y|C19orf29_uc002lyi.3_Silent_p.Y554Y|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	554						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGGCGTCGTAGTCGTCCA	0.711000												
CHAF1A	10036	broad.mit.edu	37	19	4430584	4430584	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:4430584C>T	uc002mal.2	+	11	1993	c.1893C>T	c.(1891-1893)GAC>GAT	p.D631D		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	631					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATGAGGACGATGGTTTCT	0.463000								Chromatin_Structure				
SEMA6B	10501	broad.mit.edu	37	19	4558377	4558377	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:4558377C>T	uc010duc.1	-	1	131	c.93G>A	c.(91-93)CCG>CCA	p.P31P	SEMA6B_uc010dud.2_Silent_p.P31P|SEMA6B_uc010xih.1_Silent_p.P31P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	31	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGCGGCGGCGGCTCCTCAG	0.706000											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARRDC5	645432	broad.mit.edu	37	19	4902691	4902691	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:4902691G>A	uc002mbm.2	-	1	189	c.189C>T	c.(187-189)TAC>TAT	p.Y63Y		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	63					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TCCATTCGACGTAACCCCTTC	0.507000												
STXBP2	6813	broad.mit.edu	37	19	7704641	7704641	+	Missense_Mutation	SNP	G	G	A	rs141717050		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:7704641G>A	uc002mha.3	+	4	239	c.194G>A	c.(193-195)CGG>CAG	p.R65Q	STXBP2_uc002mhb.3_Missense_Mutation_p.R65Q|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.R65Q|STXBP2_uc010dvk.2_Missense_Mutation_p.R33Q|STXBP2_uc002mhc.3_5'UTR|STXBP2_uc010dvl.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	65					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1						AACAAACGGCGGGAACCCATT	0.493000												
MAP2K7	5609	broad.mit.edu	37	19	7975374	7975374	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:7975374C>T	uc002mit.2	+	5	549	c.484C>T	c.(484-486)CGC>TGC	p.R162C	MAP2K7_uc002miv.2_Missense_Mutation_p.R162C|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R162C|MAP2K7_uc010dvv.2_Missense_Mutation_p.R37C	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	162	Protein kinase.		R -> H (in a colorectal adenocarcinoma sample; somatic mutation).|R -> C (in a colorectal adenocarcinoma sample; somatic mutation).		activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R162H(1)|p.R162C(1)		large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GGAGAACAAGCGCATCCTCAT	0.637000												
MAP2K7	5609	broad.mit.edu	37	19	7976016	7976016	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:7976016G>A	uc002mit.2	+	7	892	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	MAP2K7_uc002miv.2_Missense_Mutation_p.R276Q|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R276Q|MAP2K7_uc010dvv.2_Missense_Mutation_p.R151Q	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	276	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GCCAAGACGCGGAGCGCCGGC	0.692000												
ELAVL1	1994	broad.mit.edu	37	19	8028518	8028518	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:8028518C>T	uc002mjb.2	-	6	997	c.830G>A	c.(829-831)CGC>CAC	p.R277H		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	277	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						GTTGAAGTCGCGGATCACTTT	0.542000												
FBN3	84467	broad.mit.edu	37	19	8197972	8197972	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:8197972G>A	uc002mjf.2	-	13	1631	c.1610C>T	c.(1609-1611)ACC>ATC	p.T537I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	537	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CATGGTGCTGGTGGCACACTC	0.647000												
MARCH2	51257	broad.mit.edu	37	19	8495651	8495651	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:8495651G>A	uc002mjv.2	+	5	923	c.482G>A	c.(481-483)CGC>CAC	p.R161H	MARCH2_uc002mjw.2_Missense_Mutation_p.R161H|MARCH2_uc002mjx.2_Intron	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2	161					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TTGTGCCTGCGCGGGGCCCAG	0.657000												
MUC16	94025	broad.mit.edu	37	19	9084370	9084370	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:9084370T>G	uc002mkp.2	-	1	7649	c.7445A>C	c.(7444-7446)GAC>GCC	p.D2482A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2482	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGGCAGTGTCAGTGCTGAC	0.502000											OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
OR7D2	162998	broad.mit.edu	37	19	9296544	9296544	+	Silent	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:9296544G>C	uc002mkz.1	+	1	275	c.87G>C	c.(85-87)GGG>GGC	p.G29G		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	29	Helical; Name=1; (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TCATATTTGGGCTGTTCCTGT	0.502000												
ZNF562	54811	broad.mit.edu	37	19	9764018	9764018	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:9764018G>T	uc010xks.1	-	6	1051	c.888C>A	c.(886-888)TCC>TCA	p.S296S	ZNF562_uc002mly.2_Silent_p.S296S|ZNF562_uc002mlx.2_Silent_p.S224S|ZNF562_uc010xkt.1_Silent_p.S259S|ZNF562_uc010xku.1_Silent_p.S227S|ZNF562_uc010xkv.1_Silent_p.S295S|ZNF562_uc010xkw.1_Silent_p.S180S	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	296	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATTTCTAAAGGATCTTCCAC	0.363000												
SMARCA4	6597	broad.mit.edu	37	19	11132542	11132542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:11132542G>A	uc002mqf.3	+	19	3042	c.2758G>A	c.(2758-2760)GAG>AAG	p.E920K	SMARCA4_uc010dxp.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E920K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E920K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E920K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E920K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E140K|SMARCA4_uc002mqh.3_Missense_Mutation_p.E43K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E123K	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	920	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAAGCTTCCCGAGCTCTGGGC	0.602000			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
SMARCA4	6597	broad.mit.edu	37	19	11135079	11135079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:11135079G>A	uc002mqf.3	+	21	3330	c.3046G>A	c.(3046-3048)GTG>ATG	p.V1016M	SMARCA4_uc010dxp.2_Missense_Mutation_p.V1016M|SMARCA4_uc010dxo.2_Missense_Mutation_p.V1016M|SMARCA4_uc002mqg.1_Missense_Mutation_p.V1016M|SMARCA4_uc010dxq.2_Missense_Mutation_p.V1016M|SMARCA4_uc010dxr.2_Missense_Mutation_p.V1016M|SMARCA4_uc002mqj.3_Missense_Mutation_p.V1016M|SMARCA4_uc010dxs.2_Missense_Mutation_p.V1016M|SMARCA4_uc010dxt.1_Missense_Mutation_p.V236M|SMARCA4_uc002mqh.3_Missense_Mutation_p.V139M|SMARCA4_uc002mqi.1_Missense_Mutation_p.V219M	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1016					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCAAGGGCGTGCTGCTGAC	0.622000			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
CNN1	1264	broad.mit.edu	37	19	11660378	11660378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:11660378C>T	uc002msc.1	+	7	826	c.662C>T	c.(661-663)GCG>GTG	p.A221V	CNN1_uc010xmb.1_Missense_Mutation_p.A171V|CNN1_uc010xmc.1_Missense_Mutation_p.A171V	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	221	Calponin-like 2.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						GGCATGACTGCGCCAGGGACC	0.692000												
ZNF441	126068	broad.mit.edu	37	19	11891075	11891075	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:11891075T>C	uc010dyj.2	+	4	630	c.436T>C	c.(436-438)TGT>CGT	p.C146R	ZNF441_uc002msn.3_Missense_Mutation_p.C102R	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACATACACAATGTGGGACAGC	0.403000												
HOOK2	29911	broad.mit.edu	37	19	12875651	12875651	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:12875651G>A	uc002muy.2	-	20	1975	c.1804C>T	c.(1804-1806)CGC>TGC	p.R602C	HOOK2_uc010xmq.1_Missense_Mutation_p.R7C|HOOK2_uc002muz.2_Missense_Mutation_p.R600C	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	602	Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.|Potential.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						TCCACGTAGCGGCGGTATCGC	0.607000											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MAST1	22983	broad.mit.edu	37	19	12985336	12985336	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:12985336G>A	uc002mvm.2	+	26	4493	c.4365G>A	c.(4363-4365)GCG>GCA	p.A1455A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1455					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CTCTGGGCGCGGACTCCAAGG	0.731000												
ZSWIM4	65249	broad.mit.edu	37	19	13941853	13941853	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:13941853C>T	uc002mxh.1	+	13	3148	c.2959C>T	c.(2959-2961)CGT>TGT	p.R987C	ZSWIM4_uc010xng.1_Missense_Mutation_p.R910C	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	987							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGTGCGGGAGCGTTTTGGTTG	0.597000												
ILVBL	10994	broad.mit.edu	37	19	15233799	15233799	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:15233799G>A	uc002nam.2	-	5	629	c.508C>T	c.(508-510)CGG>TGG	p.R170W	ILVBL_uc010dzw.2_Missense_Mutation_p.R63W|ILVBL_uc010dzx.1_Missense_Mutation_p.R170W	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	170						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						CAGAGTGGCCGGAAAAGGGAC	0.632000												
CYP4F8	11283	broad.mit.edu	37	19	15739191	15739191	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:15739191G>A	uc002nbi.2	+	12	1259	c.1195G>A	c.(1195-1197)GCC>ACC	p.A399T	CYP4F8_uc010xoj.1_Missense_Mutation_p.A211T	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	399					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			large_intestine(1)	1						CCCTACATTCGCCCGCGGCTG	0.637000												
USHBP1	83878	broad.mit.edu	37	19	17366391	17366391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17366391G>A	uc002nfs.1	-	10	1608	c.1495C>T	c.(1495-1497)CGG>TGG	p.R499W	USHBP1_uc002nfr.1_Missense_Mutation_p.R125W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R435W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	499	Potential.						PDZ domain binding			ovary(1)	1						AGCTGCAGCCGAAGCATCAGG	0.652000												
USHBP1	83878	broad.mit.edu	37	19	17373521	17373521	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17373521C>A	uc002nfs.1	-	4	595	c.482G>T	c.(481-483)GGG>GTG	p.G161V	USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.G97V|USHBP1_uc010eam.1_Missense_Mutation_p.G89V	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	161							PDZ domain binding			ovary(1)	1						TTCCTGCTTCCCAAGGGAACC	0.682000												
ABHD8	79575	broad.mit.edu	37	19	17412206	17412206	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17412206C>T	uc002ngb.3	-	2	460	c.220G>A	c.(220-222)GGC>AGC	p.G74S		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	74							hydrolase activity				0						CGGACCAAGCCGGAGAGGTCC	0.697000												
B3GNT3	10331	broad.mit.edu	37	19	17918981	17918981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17918981G>A	uc002nhk.1	+	2	450	c.365G>A	c.(364-366)CGC>CAC	p.R122H	B3GNT3_uc002nhl.1_Missense_Mutation_p.R122H|B3GNT3_uc010ebd.1_Missense_Mutation_p.R122H|B3GNT3_uc010ebe.1_Missense_Mutation_p.R122H	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	122	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						AACTATGTGCGCCGCGAGCTG	0.677000												
KLHL26	55295	broad.mit.edu	37	19	18779936	18779936	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:18779936A>G	uc002njz.1	+	3	1756	c.1729A>G	c.(1729-1731)ATC>GTC	p.I577V		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	577	Kelch 6.									ovary(1)	1						CGTCACGGGCATCGTACAGGT	0.662000												
PBX4	80714	broad.mit.edu	37	19	19681602	19681602	+	Silent	SNP	G	G	A	rs112528821		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:19681602G>A	uc002nmy.2	-	3	235	c.234C>T	c.(232-234)GAC>GAT	p.D78D	PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Translation_Start_Site	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	78							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GGAGCTGGGCGTCAGGGGGAT	0.557000												
ZNF14	7561	broad.mit.edu	37	19	19823267	19823267	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:19823267C>T	uc002nnk.1	-	4	977	c.823G>A	c.(823-825)GGA>AGA	p.G275R		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				GGTTTTTCTCCAGTGTGAGTT	0.403000												
ZNF676	163223	broad.mit.edu	37	19	22375844	22375844	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:22375844C>A	uc002nqs.1	-	2	422	c.104G>T	c.(103-105)AGA>ATA	p.R35I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATCTCATGTCTCTTCATATT	0.413000												
ZNF536	9745	broad.mit.edu	37	19	30936377	30936377	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:30936377C>T	uc002nsu.1	+	2	2046	c.1908C>T	c.(1906-1908)TGC>TGT	p.C636C	ZNF536_uc010edd.1_Silent_p.C636C	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	636	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCCCCGACTGCGGCCGGGTGT	0.627000												
FFAR2	2867	broad.mit.edu	37	19	35940790	35940790	+	Silent	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:35940790G>C	uc002nzg.2	+	2	254	c.174G>C	c.(172-174)CTG>CTC	p.L58L	FFAR2_uc010eea.2_Silent_p.L58L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	58	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTCCTCCTGCTGCTGCTGC	0.647000												
RBM42	79171	broad.mit.edu	37	19	36124665	36124665	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36124665C>T	uc002oan.2	+	7	837	c.761C>T	c.(760-762)GCG>GTG	p.A254V	RBM42_uc010eef.2_Missense_Mutation_p.A200V|RBM42_uc002oao.2_Missense_Mutation_p.A232V|RBM42_uc002oap.2_Missense_Mutation_p.A224V|RBM42_uc002oaq.2_Missense_Mutation_p.A225V|RBM42_uc010eeg.2_Missense_Mutation_p.A225V	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	254	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					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)			GCAGTGGTGGCGGCGGCGGCT	0.697000												
C19orf55	148137	broad.mit.edu	37	19	36258757	36258757	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36258757G>A	uc002obq.1	+	9	1083	c.1010G>A	c.(1009-1011)CGG>CAG	p.R337Q		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	hypothetical protein LOC148137	337										ovary(1)	1	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGTGATACGGAAGAGCGAA	0.647000												
ARHGAP33	115703	broad.mit.edu	37	19	36272095	36272095	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36272095C>T	uc002obr.1	+	12	1111	c.1026C>T	c.(1024-1026)CAC>CAT	p.H342H	ARHGAP33_uc002obs.1_Silent_p.H342H|ARHGAP33_uc002obt.1_Silent_p.H206H|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	342	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TTGAGGCCCACGGGGTGGTGG	0.597000												
ARHGAP33	115703	broad.mit.edu	37	19	36276195	36276195	+	Missense_Mutation	SNP	T	T	C	rs111354763		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36276195T>C	uc002obr.1	+	18	1911	c.1826T>C	c.(1825-1827)CTG>CCG	p.L609P	ARHGAP33_uc002obs.1_Missense_Mutation_p.L609P|ARHGAP33_uc002obt.1_Missense_Mutation_p.L473P|ARHGAP33_uc010eel.2_Missense_Mutation_p.L197P|ARHGAP33_uc002obv.1_Missense_Mutation_p.L197P	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	609					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						AAGAAGCCCCTGCCCTGGCTG	0.677000												
SPRED3	399473	broad.mit.edu	37	19	38882866	38882866	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:38882866T>C	uc002oim.2	+	3	365	c.361T>C	c.(361-363)TCC>CCC	p.S121P	SPRED3_uc002oil.1_Missense_Mutation_p.S121P	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	121	Ser-rich.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTCAccccctcctcctcctc	0.532000												
FCGBP	8857	broad.mit.edu	37	19	40433985	40433985	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:40433985T>C	uc002omp.3	-	2	292	c.284A>G	c.(283-285)AAG>AGG	p.K95R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	95	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CATCTCAGCCTTGGCACTGAT	0.557000												
CNTD2	79935	broad.mit.edu	37	19	40729347	40729347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:40729347C>T	uc010xvi.1	-	4	669	c.620G>A	c.(619-621)GGC>GAC	p.G207D	CNTD2_uc002ond.2_RNA	NM_024877	NP_079153	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2 isoform 2	207					regulation of cyclin-dependent protein kinase activity		protein kinase binding				0						CAGCAGCGGGCCGGGGTGGTG	0.706000												
LTBP4	8425	broad.mit.edu	37	19	41122916	41122916	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:41122916C>T	uc002ooh.1	+	23	3135	c.3135C>T	c.(3133-3135)GGC>GGT	p.G1045G	LTBP4_uc002oog.1_Silent_p.G1008G|LTBP4_uc002ooi.1_Silent_p.G978G|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_Intron|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1045	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCCAGGGGGCGGATGCCAGG	0.602000												
CYP2A13	1553	broad.mit.edu	37	19	41601775	41601775	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:41601775G>A	uc002opt.2	+	9	1423	c.1414G>A	c.(1414-1416)GAC>AAC	p.D472N		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	472					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	TAAGGATATCGACGTGTCCCC	0.458000												
CYP2F1	1572	broad.mit.edu	37	19	41630686	41630686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:41630686C>T	uc002opu.1	+	8	1083	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	343					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						GCTGAAGGACCGCGCGGCCAT	0.672000												
ZNF574	64763	broad.mit.edu	37	19	42585373	42585373	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:42585373T>C	uc002osm.3	+	2	2784	c.2615T>C	c.(2614-2616)GTG>GCG	p.V872A	ZNF574_uc002osk.3_Missense_Mutation_p.V962A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GAGACTGCTGTGGAGGCGCTA	0.637000												
MEGF8	1954	broad.mit.edu	37	19	42853826	42853826	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:42853826A>G	uc002otl.3	+	13	2908	c.2273A>G	c.(2272-2274)GAT>GGT	p.D758G	MEGF8_uc002otm.3_Missense_Mutation_p.D366G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	825	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CTGCTGTGGGATCGGACTGGT	0.632000												
MEGF8	1954	broad.mit.edu	37	19	42880471	42880471	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:42880471C>T	uc002otl.3	+	41	8516	c.7881C>T	c.(7879-7881)AGC>AGT	p.S2627S	MEGF8_uc002otm.3_Silent_p.S2235S|MEGF8_uc002otn.3_Silent_p.S288S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2694	Cytoplasmic (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				AGATGGCCAGCCGCCCCTTCG	0.657000												
ZC3H4	23211	broad.mit.edu	37	19	47572412	47572412	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:47572412C>G	uc002pga.3	-	14	2373	c.2335G>C	c.(2335-2337)GAG>CAG	p.E779Q	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	779	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCCTCCTGCTGCTTC	0.701000												
SLC8A2	6543	broad.mit.edu	37	19	47969509	47969509	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:47969509G>T	uc002pgx.2	-	2	430	c.152C>A	c.(151-153)CCG>CAG	p.P51Q	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.P51Q	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	51	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGCACCCCCGGCTGGCAGCG	0.697000												
CRX	1406	broad.mit.edu	37	19	48337743	48337743	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:48337743G>A	uc002phq.3	+	2	247	c.43G>A	c.(43-45)GCC>ACC	p.A15T	CRX_uc010elm.1_Intron	NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	15					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTCTGTCAACGCCTTGGCCCT	0.592000												
GRIN2D	2906	broad.mit.edu	37	19	48918144	48918144	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:48918144C>T	uc002pjc.3	+	6	1524	c.1436C>T	c.(1435-1437)CCG>CTG	p.P479L		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	479	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCCCCCCGCCCGGAAAAGCGC	0.597000												
LMTK3	114783	broad.mit.edu	37	19	49001494	49001494	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:49001494C>T	uc002pjk.2	-	12	2919	c.2919G>A	c.(2917-2919)GCG>GCA	p.A973A		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCCATTCTCCGCCGCCTTCT	0.637000												
TULP2	7288	broad.mit.edu	37	19	49388705	49388705	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:49388705C>A	uc002pkz.2	-	9	1212	c.1061G>T	c.(1060-1062)AGA>ATA	p.R354I		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	354					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CTCTACCCACCTGACTTTGCC	0.547000												
HRC	3270	broad.mit.edu	37	19	49658225	49658225	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:49658225C>A	uc002pmv.2	-	1	457	c.270G>T	c.(268-270)AAG>AAT	p.K90N	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	90					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCATCCTCCTTTTCACGGT	0.537000												
AP2A1	160	broad.mit.edu	37	19	50302631	50302631	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:50302631T>C	uc002ppn.2	+	9	1224	c.1013T>C	c.(1012-1014)CTG>CCG	p.L338P	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.L338P|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	338					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GGCCAGTTCCTGCAGCACCGG	0.622000												
NUP62	23636	broad.mit.edu	37	19	50411685	50411685	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:50411685C>T	uc002pqx.2	-	2	1484	c.1380G>A	c.(1378-1380)ACG>ACA	p.T460T	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.T460T|NUP62_uc002pqz.2_Silent_p.T460T|NUP62_uc002pra.2_Silent_p.T460T|NUP62_uc002prb.2_Silent_p.T460T|NUP62_uc002prc.2_Silent_p.T384T	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	460					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGGCCCCGGACGTGTTCAGGT	0.582000												
CLEC11A	6320	broad.mit.edu	37	19	51228569	51228569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51228569G>A	uc002psy.2	+	4	995	c.817G>A	c.(817-819)GGC>AGC	p.G273S		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	273	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCCCGAGCTCGGCGCCCAGCC	0.721000												
KLK4	9622	broad.mit.edu	37	19	51411929	51411929	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51411929G>A	uc002pua.1	-	3	381	c.381C>T	c.(379-381)TCC>TCT	p.S127S	KLK4_uc002pty.1_Silent_p.S78S|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Silent_p.S32S|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_Silent_p.S32S|KLK4_uc002pud.1_Silent_p.S32S	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	127	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TGTCAGACTCGGACACGGATT	0.602000												
KLK5	25818	broad.mit.edu	37	19	51453227	51453227	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51453227G>A	uc002pue.2	-	4	437	c.219C>T	c.(217-219)TGC>TGT	p.C73C	KLK5_uc002puf.2_Silent_p.C73C|KLK5_uc002pug.2_Silent_p.C73C	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	73	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGTGCATATCGCAGTCGGATC	0.662000												
KLK10	5655	broad.mit.edu	37	19	51518125	51518125	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51518125C>T	uc002puy.2	-	6	843	c.762G>A	c.(760-762)CAG>CAA	p.Q254Q	KLK10_uc002puz.2_Silent_p.Q254Q|KLK10_uc002pva.2_Silent_p.Q254Q	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	254	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGCTGGATGCTGGGCAGAGC	0.562000												
ZNF320	162967	broad.mit.edu	37	19	53384267	53384267	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:53384267C>T	uc002qag.2	-	4	1303	c.1112G>A	c.(1111-1113)CGT>CAT	p.R371H	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R317H|ZNF320_uc002qai.2_Missense_Mutation_p.R371H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	371	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		TTCTGCAAGACGTGAATCACT	0.413000												
ZNF665	79788	broad.mit.edu	37	19	53668313	53668313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:53668313C>T	uc010eqm.1	-	4	1530	c.1430G>A	c.(1429-1431)CGG>CAG	p.R477Q		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	412	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		ATGAATTCCCCGATGACTTGC	0.423000												
ZNF665	79788	broad.mit.edu	37	19	53669274	53669274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:53669274G>A	uc010eqm.1	-	4	569	c.469C>T	c.(469-471)CAT>TAT	p.H157Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TTCCCTTCATGTTGAAATTGC	0.383000												
PRKCG	5582	broad.mit.edu	37	19	54401692	54401692	+	Splice_Site	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:54401692A>G	uc002qcq.1	+	11	1375	c.1093_splice	c.e11-2	p.V365_splice	PRKCG_uc010yef.1_Splice_Site|PRKCG_uc010yeg.1_Splice_Site_p.V365_splice|PRKCG_uc010yeh.1_Splice_Site_p.V252_splice	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CTGTGCGCATAGGTGATGCTG	0.592000												
LAIR1	3903	broad.mit.edu	37	19	54866912	54866912	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:54866912C>T	uc002qfk.1	-	10	1139	c.829G>A	c.(829-831)GAG>AAG	p.E277K	LAIR1_uc002qfl.1_Missense_Mutation_p.E260K|LAIR1_uc002qfm.1_Missense_Mutation_p.E276K|LAIR1_uc002qfn.1_Missense_Mutation_p.E259K|LAIR1_uc010yex.1_Missense_Mutation_p.E270K|LAIR1_uc002qfo.2_Missense_Mutation_p.E259K	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	277	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GTGATGGACTCGGCCATGGGC	0.602000												
NLRP7	199713	broad.mit.edu	37	19	55450565	55450565	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:55450565C>T	uc002qih.3	-	4	1698	c.1622G>A	c.(1621-1623)CGG>CAG	p.R541Q	NLRP7_uc002qig.3_Missense_Mutation_p.R541Q|NLRP7_uc002qii.3_Missense_Mutation_p.R541Q|NLRP7_uc010esk.2_Missense_Mutation_p.R541Q|NLRP7_uc010esl.2_Missense_Mutation_p.R569Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	541							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CGGTGACATCCGGCAGCCAAA	0.512000												
EPS8L1	54869	broad.mit.edu	37	19	55594834	55594834	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:55594834G>A	uc002qis.3	+	13	1407	c.1303G>A	c.(1303-1305)GCC>ACC	p.A435T	EPS8L1_uc010ess.1_Missense_Mutation_p.A417T|EPS8L1_uc010est.1_Missense_Mutation_p.A435T|EPS8L1_uc010yfr.1_Missense_Mutation_p.A371T|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.A308T|EPS8L1_uc002qiv.2_Missense_Mutation_p.A81T|EPS8L1_uc002qiw.2_Missense_Mutation_p.A182T	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	435						cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCAGAGCCGCGCCTGGGAGGA	0.706000												
PTPRH	5794	broad.mit.edu	37	19	55715343	55715343	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:55715343G>A	uc002qjq.2	-	5	766	c.693C>T	c.(691-693)CCC>CCT	p.P231P	PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Silent_p.P238P	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	231	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGCCATCGGGGACCTCCC	0.542000												
CCDC106	29903	broad.mit.edu	37	19	56163869	56163869	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:56163869G>A	uc002qlr.2	+	6	1335	c.600G>A	c.(598-600)TCG>TCA	p.S200S	CCDC106_uc002qls.2_Silent_p.S200S|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	200						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGAGCATGTCGCGGGCCTTCG	0.657000												
U2AF2	11338	broad.mit.edu	37	19	56172557	56172557	+	Splice_Site	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:56172557T>C	uc002qlu.2	+	5	1541	c.486_splice	c.e5+2	p.E162_splice	U2AF2_uc002qlt.2_Splice_Site_p.E162_splice	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATCACTGAGGTActgccctcc	0.403000												
ZNF667	63934	broad.mit.edu	37	19	56952725	56952725	+	Silent	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:56952725T>G	uc002qnd.2	-	5	1801	c.1639A>C	c.(1639-1641)AGA>CGA	p.R547R	ZNF667_uc010etl.2_Silent_p.R329R|ZNF667_uc002qne.2_Silent_p.R547R|ZNF667_uc010etm.2_Silent_p.R490R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	547	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTATGACTTCTTTCATGTAGA	0.423000												
ZNF460	10794	broad.mit.edu	37	19	57803352	57803352	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:57803352C>T	uc002qog.2	+	3	1765	c.1443C>T	c.(1441-1443)TGC>TGT	p.C481C	ZNF460_uc010ygv.1_Silent_p.C440C	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	481	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCGTGGAGTGCGGGAAGGCCT	0.532000												
ZNF324B	388569	broad.mit.edu	37	19	58967034	58967034	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:58967034G>A	uc002qsv.1	+	4	830	c.723G>A	c.(721-723)TCG>TCA	p.S241S	ZNF324B_uc002qsu.1_Silent_p.S231S|ZNF324B_uc010euq.1_Silent_p.S241S	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGAGCCCTCGACCTGGGACG	0.637000												
ZNF446	55663	broad.mit.edu	37	19	58988901	58988901	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:58988901C>T	uc002qsz.2	+	2	433	c.316C>T	c.(316-318)CAT>TAT	p.H106Y	ZNF446_uc002qta.2_Missense_Mutation_p.H106Y|ZNF446_uc010eur.2_Missense_Mutation_p.H106Y	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	106	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGACTGCAGCATGACCCTGG	0.632000												
COLEC11	78989	broad.mit.edu	37	2	3651971	3651971	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:3651971T>C	uc002qya.2	+	2	189	c.41T>C	c.(40-42)CTG>CCG	p.L14P	COLEC11_uc002qxz.2_5'UTR|COLEC11_uc002qyb.2_Missense_Mutation_p.L14P|COLEC11_uc002qyc.2_Missense_Mutation_p.L14P|COLEC11_uc010ewo.2_Missense_Mutation_p.L14P|COLEC11_uc010ewp.2_5'Flank|COLEC11_uc010ewq.2_5'Flank|COLEC11_uc010ewr.2_5'Flank|COLEC11_uc010ews.2_5'Flank	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	14						collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTAATCAGCCTGGCCTTCCTG	0.592000												
RNF144A	9781	broad.mit.edu	37	2	7137076	7137076	+	Missense_Mutation	SNP	C	C	T	rs151171616		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:7137076C>T	uc002qys.2	+	3	461	c.19C>T	c.(19-21)CGG>TGG	p.R7W	RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	7						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AACAAGGTACCGGCCCACCTG	0.597000												
GREB1	9687	broad.mit.edu	37	2	11759033	11759033	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:11759033C>T	uc002rbk.1	+	22	4332	c.4032C>T	c.(4030-4032)AGC>AGT	p.S1344S	GREB1_uc002rbp.1_Silent_p.S342S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1344						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGCTGCTCAGCGGCCCCCCTC	0.726000												
LPIN1	23175	broad.mit.edu	37	2	11928551	11928551	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:11928551C>A	uc010yjn.1	+	12	1848	c.1574C>A	c.(1573-1575)GCA>GAA	p.A525E	LPIN1_uc010yjm.1_Missense_Mutation_p.A610E|LPIN1_uc002rbt.2_Missense_Mutation_p.A525E|LPIN1_uc010yjo.1_5'UTR	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	525					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTCCTCCTGGCAATGCAGGCC	0.428000												
NBAS	51594	broad.mit.edu	37	2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	rs140188229		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:15493765C>T	uc002rcc.1	-	34	4027	c.4001G>A	c.(4000-4002)CGT>CAT	p.R1334H	NBAS_uc010exl.1_Missense_Mutation_p.R406H|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1334										ovary(2)|liver(1)|skin(1)	4						GAGCTCTTGACGAGTGGCCAA	0.453000												
APOB	338	broad.mit.edu	37	2	21225676	21225676	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:21225676C>T	uc002red.2	-	29	12746	c.12618G>A	c.(12616-12618)GGG>GGA	p.G4206G		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4206					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCCAGGTTTCCCCGGAAACT	0.438000												
C2orf84	653140	broad.mit.edu	37	2	24398355	24398355	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:24398355T>C	uc002rfc.2	+	2	92	c.6T>C	c.(4-6)GCT>GCC	p.A2A	C2orf84_uc010eyc.2_RNA	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN	hypothetical protein LOC653140	2											0						TGTCCATGGCTGCCACCAAAA	0.502000												
TTC27	55622	broad.mit.edu	37	2	33002975	33002975	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:33002975T>C	uc002rom.2	+	14	1938	c.1707T>C	c.(1705-1707)TGT>TGC	p.C569C	TTC27_uc010ymx.1_Silent_p.C519C|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	569	HAT 1.|TPR 4.						protein binding			central_nervous_system(1)	1						CTCTCGGTTGTGCCTATTTGG	0.408000												
STRN	6801	broad.mit.edu	37	2	37132704	37132704	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:37132704T>C	uc002rpn.2	-	4	479	c.470A>G	c.(469-471)CAA>CGA	p.Q157R	STRN_uc010ezx.2_Missense_Mutation_p.Q157R	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	157	Calmodulin-binding (Potential).				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTGTCGACCTTGTTTCCACAT	0.338000												
CDC42EP3	10602	broad.mit.edu	37	2	37873629	37873629	+	Silent	SNP	C	C	T	rs7560028		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:37873629C>T	uc002rqi.1	-	2	1095	c.102G>A	c.(100-102)CCG>CCA	p.P34P		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	34	CRIB.				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)				AGTCTCCAAGCGGGGGACTGA	0.463000												
CYP1B1	1545	broad.mit.edu	37	2	38298186	38298186	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:38298186C>T	uc002rqo.2	-	4	1714	c.1311G>A	c.(1309-1311)CCG>CCA	p.P437P		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	437					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	CAAAGTTCTCCGGGTTAGGCC	0.507000												
OXER1	165140	broad.mit.edu	37	2	42990345	42990345	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:42990345G>A	uc002rss.2	-	1	1057	c.975C>T	c.(973-975)TCC>TCT	p.S325S		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	325	Extracellular (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						ATCGGCAGGCGGACAGCCAGA	0.597000												
SOCS5	9655	broad.mit.edu	37	2	46986977	46986977	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:46986977C>G	uc002rvf.2	+	2	1472	c.1308C>G	c.(1306-1308)AAC>AAG	p.N436K	SOCS5_uc010yoe.1_Missense_Mutation_p.N405K|SOCS5_uc002rvg.2_Missense_Mutation_p.N436K	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	436	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGAATCACAACTTTAGTTTCG	0.478000												
ASB3	51130	broad.mit.edu	37	2	53927569	53927569	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:53927569C>T	uc002rxg.1	-	8	1212	c.1077G>A	c.(1075-1077)TCG>TCA	p.S359S	ASB3_uc002rxh.1_Silent_p.S286S|ASB3_uc002rxi.3_Silent_p.S397S|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	359	ANK 11.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGCGAAATATCGAAAACTTCT	0.363000												
RTN4	57142	broad.mit.edu	37	2	55254522	55254522	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:55254522A>G	uc002rye.2	-	3	1011	c.713T>C	c.(712-714)CTG>CCG	p.L238P	RTN4_uc002ryd.2_Missense_Mutation_p.L32P|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	238	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						GAGAGGAGACAGAGAAGGAAG	0.433000												
HSPC159	29094	broad.mit.edu	37	2	64685463	64685463	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:64685463T>C	uc002scy.3	+	5	773	c.420T>C	c.(418-420)GAT>GAC	p.D140D		NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN	galectin-related protein	140	Galectin.					intracellular	sugar binding				0						TGTTTGTGGATGGACACCAAC	0.398000												
GFPT1	2673	broad.mit.edu	37	2	69577301	69577301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:69577301C>T	uc002sfh.2	-	9	879	c.700G>A	c.(700-702)GGA>AGA	p.G234R	GFPT1_uc002sfi.1_Missense_Mutation_p.G94R	NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	252	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1						TTGCAGCTTCCTTTCTTGTCT	0.388000												
ANXA4	307	broad.mit.edu	37	2	70033528	70033528	+	Silent	SNP	C	C	T	rs148077345	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:70033528C>T	uc002sfr.3	+	5	431	c.204C>T	c.(202-204)GAC>GAT	p.D68D	ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Silent_p.D68D|ANXA4_uc010yqo.1_Translation_Start_Site	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	66	Annexin 1.				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						ACTTGATAGACGACCTGAAGT	0.403000												
PCYOX1	51449	broad.mit.edu	37	2	70502205	70502205	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:70502205G>A	uc002sgn.3	+	4	675	c.609G>A	c.(607-609)TTG>TTA	p.L203L	PCYOX1_uc010fdo.2_Silent_p.L126L|PCYOX1_uc010yqu.1_Silent_p.L185L	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	203					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						TTGAAACCTTGCAAAAGGCCG	0.428000												
ZNF638	27332	broad.mit.edu	37	2	71576560	71576560	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:71576560G>A	uc002shx.2	+	2	795	c.476G>A	c.(475-477)CGC>CAC	p.R159H	ZNF638_uc010fec.2_Missense_Mutation_p.R265H|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R159H|ZNF638_uc002shy.2_Missense_Mutation_p.R159H|ZNF638_uc002shz.2_Missense_Mutation_p.R159H|ZNF638_uc002sia.2_Missense_Mutation_p.R159H|ZNF638_uc002sib.1_Missense_Mutation_p.R159H	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	159					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GAACTTAGTCGCTATCCTGAT	0.398000												
CCT7	10574	broad.mit.edu	37	2	73477497	73477497	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:73477497C>T	uc002siz.2	+	10	1236	c.1134C>T	c.(1132-1134)GCC>GCT	p.A378A	CCT7_uc002sja.2_Silent_p.A174A|CCT7_uc010yrf.1_Silent_p.A334A|CCT7_uc010feu.2_Silent_p.A336A|CCT7_uc010yrg.1_Silent_p.A278A|CCT7_uc010yrh.1_Silent_p.A250A|CCT7_uc010yri.1_Silent_p.A291A	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	378					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						GTGGCGGCGCCGAGCAGTTTA	0.522000												
KDM3A	55818	broad.mit.edu	37	2	86669239	86669239	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:86669239C>T	uc002sri.3	+	2	396	c.69C>T	c.(67-69)GCC>GCT	p.A23A	KDM3A_uc010ytj.1_Silent_p.A23A|KDM3A_uc010ytk.1_Silent_p.A23A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	23					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						TGTCCGCAGCCGACGGCAGCG	0.637000												
KDM3A	55818	broad.mit.edu	37	2	86705071	86705071	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:86705071A>G	uc002sri.3	+	13	2338	c.2011A>G	c.(2011-2013)AAC>GAC	p.N671D	KDM3A_uc010ytj.1_Missense_Mutation_p.N671D|KDM3A_uc010ytk.1_Missense_Mutation_p.N619D	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	671	C6-type (Potential).				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						CACCATCTTCAACCTGCACTG	0.478000												
TEKT4	150483	broad.mit.edu	37	2	95537341	95537341	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:95537341C>T	uc002stw.1	+	1	110	c.17C>T	c.(16-18)CCG>CTG	p.P6L	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	6					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CAGACAGTGCCGCCCTGCGAG	0.692000												
CNGA3	1261	broad.mit.edu	37	2	98996645	98996645	+	Missense_Mutation	SNP	C	C	T	rs77733216		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:98996645C>T	uc002syt.2	+	4	640	c.223C>T	c.(223-225)CGC>TGC	p.R75C	CNGA3_uc002syu.2_Missense_Mutation_p.R75C|CNGA3_uc010fij.2_Missense_Mutation_p.R79C	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	75					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CAGGCTGTCGCGCCTCATCTT	0.527000												
POU3F3	5455	broad.mit.edu	37	2	105473199	105473199	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:105473199A>G	uc010ywg.1	+	1	1231	c.1231A>G	c.(1231-1233)ACC>GCC	p.T411A		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	411	Homeobox.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						CAAGAAGCGGACCTCTATCGA	0.657000												
IL1B	3553	broad.mit.edu	37	2	113591057	113591057	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:113591057C>T	uc002tii.1	-	4	282	c.195G>A	c.(193-195)GCG>GCA	p.A65A	IL1B_uc002tih.1_Silent_p.A34A	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	65					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CAACAACTGACGCGGCCTGCC	0.582000												
IL1F7	27178	broad.mit.edu	37	2	113676235	113676235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:113676235C>T	uc002tij.2	+	5	548	c.506C>T	c.(505-507)TCG>TTG	p.S169L	IL1F7_uc002tik.2_Missense_Mutation_p.S148L|IL1F7_uc002til.2_Missense_Mutation_p.S129L|IL1F7_uc002tim.2_Missense_Mutation_p.S108L|IL1F7_uc002tin.2_Missense_Mutation_p.S143L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	interleukin 1 family, member 7 isoform 1	169					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding				0						ATGCTGGAGTCGGCGGCTCAC	0.507000												
C1QL2	165257	broad.mit.edu	37	2	119915212	119915212	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:119915212G>A	uc002tlo.2	-	1	1260	c.634C>T	c.(634-636)CGC>TGC	p.R212C		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	212	C1q.					collagen				pancreas(1)	1						TCGCCGCCGCGCATGAGGATG	0.637000										HNSCC(49;0.14)		
C1QL2	165257	broad.mit.edu	37	2	119915381	119915381	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:119915381G>A	uc002tlo.2	-	1	1091	c.465C>T	c.(463-465)AGC>AGT	p.S155S		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	155	C1q.					collagen				pancreas(1)	1						TCTTGGGGCCGCTGAAGGTGG	0.657000										HNSCC(49;0.14)		
INHBB	3625	broad.mit.edu	37	2	121104067	121104067	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:121104067C>T	uc002tmn.2	+	1	349	c.303C>T	c.(301-303)GCC>GCT	p.A101A		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	101					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				TGCCTAAGGCCGCCATGGTCA	0.731000												
GLI2	2736	broad.mit.edu	37	2	121726317	121726317	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:121726317C>T	uc010flp.2	+	5	701	c.671C>T	c.(670-672)ACG>ATG	p.T224M	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Silent_p.D94D|GLI2_uc010flo.1_Missense_Mutation_p.T99M|GLI2_uc002tmw.1_Missense_Mutation_p.T224M	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	224					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CCGCGGGTGACGCCCCGCCTG	0.647000												
LIMS2	55679	broad.mit.edu	37	2	128399650	128399650	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:128399650C>T	uc002tpa.2	-	6	800	c.634G>A	c.(634-636)GCG>ACG	p.A212T	LIMS2_uc002tou.2_Missense_Mutation_p.A20T|LIMS2_uc002tov.2_Missense_Mutation_p.A60T|LIMS2_uc002tow.2_Missense_Mutation_p.A60T|LIMS2_uc002tox.2_Missense_Mutation_p.A236T|LIMS2_uc010fmb.2_Missense_Mutation_p.A122T|LIMS2_uc002toy.2_Missense_Mutation_p.A207T|LIMS2_uc010yzm.1_Missense_Mutation_p.A234T|LIMS2_uc002toz.2_Missense_Mutation_p.A207T|LIMS2_uc002tpb.2_Missense_Mutation_p.A207T	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	212	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TTGCCCAGCGCGTTGACCACT	0.667000												
PLEKHB2	55041	broad.mit.edu	37	2	131883388	131883388	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:131883388T>C	uc002tsg.3	+	3	660	c.100T>C	c.(100-102)TAT>CAT	p.Y34H	PLEKHB2_uc002tsh.2_Missense_Mutation_p.Y34H|PLEKHB2_uc002tsj.3_Missense_Mutation_p.Y34H|PLEKHB2_uc002tsf.3_Missense_Mutation_p.Y34H|PLEKHB2_uc010zao.1_5'UTR|PLEKHB2_uc010zap.1_Missense_Mutation_p.Y34H|PLEKHB2_uc010zaq.1_Missense_Mutation_p.Y34H|PLEKHB2_uc002tsi.3_Missense_Mutation_p.Y75H	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B	34	PH.					membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TCACCTGATCTATTATGATGA	0.443000												
LCT	3938	broad.mit.edu	37	2	136566101	136566101	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:136566101G>A	uc002tuu.1	-	8	3827	c.3816C>T	c.(3814-3816)ACC>ACT	p.T1272T		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1272	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCGTTTTCGGTGATGTAAA	0.517000												
KYNU	8942	broad.mit.edu	37	2	143718233	143718233	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:143718233T>A	uc002tvl.2	+	8	753	c.623T>A	c.(622-624)ATT>AAT	p.I208N	KYNU_uc002tvk.2_Missense_Mutation_p.I208N|KYNU_uc010fnm.2_Missense_Mutation_p.I208N	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	208					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CTTGAAGTAATTGAGAAGGAA	0.368000												
RIF1	55183	broad.mit.edu	37	2	152321548	152321548	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:152321548T>G	uc002txm.2	+	30	5644	c.5514T>G	c.(5512-5514)ATT>ATG	p.I1838M	RIF1_uc002txl.2_Missense_Mutation_p.I1838M|RIF1_uc002txn.2_Missense_Mutation_p.I1838M|RIF1_uc002txo.2_Missense_Mutation_p.I1838M|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1838					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GAGAGGAAATTTGTGATATGG	0.333000												
RIF1	55183	broad.mit.edu	37	2	152324631	152324631	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:152324631G>A	uc002txm.2	+	31	6848	c.6718G>A	c.(6718-6720)GTT>ATT	p.V2240I	RIF1_uc002txl.2_Missense_Mutation_p.V2240I|RIF1_uc002txn.2_Missense_Mutation_p.V2240I|RIF1_uc002txo.2_Missense_Mutation_p.V2240I|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2240	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGGAAAAAGTGTTAAAACTTC	0.363000												
FIGN	55137	broad.mit.edu	37	2	164467865	164467865	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:164467865T>C	uc002uck.1	-	3	788	c.477A>G	c.(475-477)ACA>ACG	p.T159T		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	159						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						AACTAGGTTCTGTCAGGTTGC	0.517000												
SCN1A	6323	broad.mit.edu	37	2	166848723	166848723	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:166848723C>A	uc010zcz.1	-	26	5047	c.5029G>T	c.(5029-5031)GGG>TGG	p.G1677W		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1688	Helical; Name=S5 of repeat IV; (By similarity).|IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGGACATCCCAAAGATGGCG	0.468000												
SCN1A	6323	broad.mit.edu	37	2	166901611	166901611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:166901611C>T	uc010zcz.1	-	10	1622	c.1604G>A	c.(1603-1605)CGC>CAC	p.R535H	SCN1A_uc002udo.3_Missense_Mutation_p.R404H|SCN1A_uc010fpk.2_Missense_Mutation_p.R404H	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	535						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATGGAGAAGCGAAAACCTTT	0.428000												
SCN7A	6332	broad.mit.edu	37	2	167327173	167327173	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:167327173G>T	uc002udu.1	-	6	743	c.616C>A	c.(616-618)CAA>AAA	p.Q206K	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	206	Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						CTTGCAGTTTGAAGCGTTGGA	0.299000												
SP5	389058	broad.mit.edu	37	2	171573014	171573014	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:171573014G>A	uc002uge.2	+	2	463	c.297G>A	c.(295-297)ACG>ACA	p.T99T	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGCAGAAGACGCACCTGCAGC	0.706000												
GAD1	2571	broad.mit.edu	37	2	171678601	171678601	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:171678601C>T	uc002ugi.2	+	3	509	c.87C>T	c.(85-87)TAC>TAT	p.Y29Y	GAD1_uc002ugh.2_Silent_p.Y29Y	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	29					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCCTAGCGTACGATACCTGGT	0.622000												
TTN	7273	broad.mit.edu	37	2	179452435	179452435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:179452435G>A	uc010zfg.1	-	255	56121	c.55897C>T	c.(55897-55899)CGA>TGA	p.R18633*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R12328*|TTN_uc010zfi.1_Nonsense_Mutation_p.R12261*|TTN_uc010zfj.1_Nonsense_Mutation_p.R12136*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19560							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGCTGGTCGTCCTCTCACT	0.473000												
TTN	7273	broad.mit.edu	37	2	179638766	179638766	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:179638766C>A	uc010zfg.1	-	31	7353	c.7129G>T	c.(7129-7131)GTT>TTT	p.V2377F	TTN_uc010zfh.1_Missense_Mutation_p.V2331F|TTN_uc010zfi.1_Missense_Mutation_p.V2331F|TTN_uc010zfj.1_Missense_Mutation_p.V2331F|TTN_uc002unb.2_Missense_Mutation_p.V2377F|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2377							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACTTTAACTTCAAGCTGA	0.458000												
COL5A2	1290	broad.mit.edu	37	2	189953419	189953419	+	Splice_Site	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:189953419A>G	uc002uqk.2	-	8	920	c.645_splice	c.e8+1	p.V215_splice	COL5A2_uc010frx.2_5'Flank	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTTATGCTTACCACAGAGCC	0.358000												
C2orf66	401027	broad.mit.edu	37	2	197672333	197672333	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:197672333A>C	uc002utv.2	-	2	1077	c.188T>G	c.(187-189)CTT>CGT	p.L63R		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	hypothetical protein LOC401027 precursor	63						extracellular region					0						ATATGCCTGAAGCCTTCTGAA	0.378000												
NDUFB3	4709	broad.mit.edu	37	2	201943742	201943742	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:201943742G>A	uc002uwx.3	+	2	460	c.137G>A	c.(136-138)GGC>GAC	p.G46D		NM_002491	NP_002482	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	46					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	GATCCATGGGGCCGGTAAGAT	0.373000												
BMPR2	659	broad.mit.edu	37	2	203383649	203383649	+	Silent	SNP	C	C	T	rs151044452	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:203383649C>T	uc002uzf.3	+	6	1874	c.726C>T	c.(724-726)AAC>AAT	p.N242N	BMPR2_uc010ftr.2_Silent_p.N242N	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	242	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						ATTTTATCAACGAAAAGAACA	0.428000												
NRP2	8828	broad.mit.edu	37	2	206608102	206608102	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:206608102G>A	uc002vaw.2	+	9	2258	c.1467G>A	c.(1465-1467)CAG>CAA	p.Q489Q	NRP2_uc002vat.2_Silent_p.Q489Q|NRP2_uc002vau.2_Silent_p.Q489Q|NRP2_uc002vav.2_Silent_p.Q489Q|NRP2_uc002vax.2_Silent_p.Q489Q|NRP2_uc002vay.2_Silent_p.Q489Q|NRP2_uc010fud.2_Silent_p.Q489Q	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	489	Extracellular (Potential).|F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						AGTGGCTTCAGGTAGATCTGG	0.607000												
FASTKD2	22868	broad.mit.edu	37	2	207655375	207655375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:207655375C>T	uc002vbu.2	+	11	2388	c.1978C>T	c.(1978-1980)CGG>TGG	p.R660W	FASTKD2_uc002vbv.2_Missense_Mutation_p.R660W|FASTKD2_uc002vbx.2_Missense_Mutation_p.R660W|FASTKD2_uc002vbw.1_3'UTR	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	660	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TATGAAAATGCGGCATTTGAA	0.368000												
IDH1	3417	broad.mit.edu	37	2	209104637	209104637	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:209104637C>T	uc002vcs.2	-	8	1187	c.941G>A	c.(940-942)CGT>CAT	p.R314H	IDH1_uc002vct.2_Missense_Mutation_p.R314H|IDH1_uc002vcu.2_Missense_Mutation_p.R314H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	314	NADP.				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GCGGTAGTGACGGGTTACAGT	0.517000			Mis		gliobastoma 							
MAP2	4133	broad.mit.edu	37	2	210558967	210558967	+	Silent	SNP	T	T	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:210558967T>A	uc002vde.1	+	7	2321	c.2073T>A	c.(2071-2073)GGT>GGA	p.G691G	MAP2_uc002vdc.1_Silent_p.G691G|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.G687G	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	691					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GACTTGGTGGTAGGTCTGCAA	0.418000												
LANCL1	10314	broad.mit.edu	37	2	211306124	211306124	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:211306124T>C	uc010zjh.1	-	5	526	c.451A>G	c.(451-453)ATG>GTG	p.M151V	LANCL1_uc002ved.2_Missense_Mutation_p.M151V|LANCL1_uc010fuq.2_Missense_Mutation_p.M151V	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	151						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CCATAGAGCATTTCATTTGGA	0.368000												
MREG	55686	broad.mit.edu	37	2	216810399	216810399	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:216810399A>C	uc002vfo.2	-	4	701	c.405T>G	c.(403-405)GAT>GAG	p.D135E	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	135						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		TGTTTTTAGAATCACTGATGG	0.398000												
C2orf62	375307	broad.mit.edu	37	2	219227522	219227522	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:219227522C>T	uc002vhr.2	+	6	556	c.527C>T	c.(526-528)GCC>GTC	p.A176V	C2orf62_uc002vhs.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	176											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGAGGCTGCCAACCTGGTG	0.577000												
SPEG	10290	broad.mit.edu	37	2	220299720	220299720	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:220299720G>A	uc010fwg.2	+	1	21	c.21G>A	c.(19-21)ACG>ACA	p.T7T	SPEG_uc002vlm.2_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	7					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCGGGGCACGCGAGGCGAGG	0.761000												
OBSL1	23363	broad.mit.edu	37	2	220418391	220418391	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:220418391C>T	uc010fwk.2	-	16	4951	c.4894G>A	c.(4894-4896)GTG>ATG	p.V1632M		NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1632	Ig-like 13.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGCCCCCGCACGATGGTCACT	0.612000											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
OBSL1	23363	broad.mit.edu	37	2	220428089	220428089	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:220428089C>T	uc010fwk.2	-	7	2725	c.2668G>A	c.(2668-2670)GTC>ATC	p.V890I	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Missense_Mutation_p.V365I|OBSL1_uc002vmi.2_Missense_Mutation_p.V890I|OBSL1_uc002vmj.2_Missense_Mutation_p.V477I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	890	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTGATGGTGACAGTGAAGTAG	0.667000												
ACSL3	2181	broad.mit.edu	37	2	223791818	223791818	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:223791818C>T	uc002vni.2	+	12	1827	c.1376C>T	c.(1375-1377)ACG>ATG	p.T459M	ACSL3_uc002vnj.2_Missense_Mutation_p.T459M	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	459	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TCTGCAACCACGCAGCGATTC	0.473000			T	ETV1	prostate							
SCG2	7857	broad.mit.edu	37	2	224463302	224463302	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:224463302G>T	uc002vnm.2	-	2	832	c.699C>A	c.(697-699)ATC>ATA	p.I233I		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	233					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TAGCCTTGTAGATATCATCTT	0.458000												
NMUR1	10316	broad.mit.edu	37	2	232393263	232393263	+	Missense_Mutation	SNP	C	C	T	rs138003035	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:232393263C>T	uc002vry.3	-	2	579	c.469G>A	c.(469-471)GTG>ATG	p.V157M		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	157	Helical; Name=3; (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)		TAGCGTTCCACGCTCAGGGCA	0.632000												
ECEL1	9427	broad.mit.edu	37	2	233346298	233346298	+	Missense_Mutation	SNP	G	G	A	rs146580059		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:233346298G>A	uc002vsv.2	-	14	2112	c.1907C>T	c.(1906-1908)ACG>ATG	p.T636M	ECEL1_uc010fya.1_Missense_Mutation_p.T634M|ECEL1_uc010fyb.1_Missense_Mutation_p.T343M	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	636	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAGGCCTCCGTCCACCAGTG	0.642000												
DGKD	8527	broad.mit.edu	37	2	234355371	234355371	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:234355371G>A	uc002vui.1	+	12	1360	c.1348G>A	c.(1348-1350)GCA>ACA	p.A450T	DGKD_uc002vuj.1_Missense_Mutation_p.A406T|DGKD_uc010fyh.1_Missense_Mutation_p.A317T|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	450	DAGKc.				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	p.A450S(1)		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)	GAGCGTCATGGCATACGAGGC	0.632000												
COL6A3	1293	broad.mit.edu	37	2	238277492	238277492	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:238277492G>A	uc002vwl.2	-	10	4899	c.4614C>T	c.(4612-4614)GAC>GAT	p.D1538D	COL6A3_uc002vwo.2_Silent_p.D1332D|COL6A3_uc010znj.1_Silent_p.D931D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1538	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGCACCCCGTCTTCTATGC	0.577000												
ASB1	51665	broad.mit.edu	37	2	239353002	239353002	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:239353002G>A	uc002vyg.2	+	4	600	c.514G>A	c.(514-516)GTC>ATC	p.V172I		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	172	ANK 4.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TGATGTTGACGTCAACCACCA	0.493000												
PRR21	643905	broad.mit.edu	37	2	240981445	240981445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:240981445G>A	uc010zod.1	-	1	955	c.955C>T	c.(955-957)CGG>TGG	p.R319W		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	319	Pro-rich.									ovary(1)|skin(1)	2						ACGAAGGGCCGTGGGTGAAGA	0.597000												
ANKMY1	51281	broad.mit.edu	37	2	241439508	241439508	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:241439508C>T	uc002vyz.1	-	14	2635	c.2406G>A	c.(2404-2406)ACG>ACA	p.T802T	ANKMY1_uc002vza.1_Silent_p.T578T|ANKMY1_uc010fzd.1_Silent_p.T891T|ANKMY1_uc002vzb.1_Silent_p.T563T|ANKMY1_uc002vzc.1_Silent_p.T581T|ANKMY1_uc002vzd.1_Silent_p.T625T	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	802							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTGGCATCAGCGTGTGGAAGG	0.672000												
KIF1A	547	broad.mit.edu	37	2	241712648	241712648	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:241712648G>A	uc002vzy.2	-	13	1209	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	KIF1A_uc010fzk.2_Missense_Mutation_p.R355C|KIF1A_uc002vzz.1_Missense_Mutation_p.R355C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	355	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCATTGCAGCGGATCTGCTTG	0.627000												
HDLBP	3069	broad.mit.edu	37	2	242170272	242170272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:242170272G>A	uc002waz.2	-	25	3604	c.3376C>T	c.(3376-3378)CAG>TAG	p.Q1126*	HDLBP_uc002wba.2_Nonsense_Mutation_p.Q1126*|HDLBP_uc002wbb.2_Nonsense_Mutation_p.Q1078*	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1126	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAAACCATCTGCTCAAGTTCA	0.517000												
DEFB126	81623	broad.mit.edu	37	20	126054	126054	+	Splice_Site	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:126054A>G	uc002wcx.2	+	2	77	c.59_splice	c.e2-2	p.G20_splice		NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	defensin, beta 126 preproprotein						defense response to bacterium	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TCCTTTATTCAGGTAATTGGT	0.348000												
LRRN4	164312	broad.mit.edu	37	20	6022103	6022103	+	Silent	SNP	C	C	T	rs149872329	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:6022103C>T	uc002wmo.2	-	5	2012	c.1788G>A	c.(1786-1788)GCG>GCA	p.A596A		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	596	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)	3						AGTGGACCAGCGCCGACGTGT	0.697000												
FERMT1	55612	broad.mit.edu	37	20	6075585	6075585	+	Splice_Site	SNP	C	C	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:6075585C>G	uc002wmr.2	-	9	1928	c.1139_splice	c.e9+1	p.R380_splice	FERMT1_uc002wmq.2_5'Flank|FERMT1_uc010gbt.2_Splice_Site_p.R123_splice|FERMT1_uc002wms.2_Splice_Site_p.R380_splice	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1						cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						AGTTTACTTACCTAAATAATT	0.289000												
PAK7	57144	broad.mit.edu	37	20	9546559	9546559	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:9546559C>T	uc002wnl.2	-	6	2008	c.1463G>A	c.(1462-1464)CGA>CAA	p.R488Q	PAK7_uc002wnk.2_Missense_Mutation_p.R488Q|PAK7_uc002wnj.2_Missense_Mutation_p.R488Q|PAK7_uc010gby.1_Missense_Mutation_p.R488Q	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	488	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			AAGCAGTTCTCGTCTCTGTTG	0.433000												
OTOR	56914	broad.mit.edu	37	20	16730619	16730619	+	Silent	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:16730619T>G	uc002wpj.2	+	3	371	c.327T>G	c.(325-327)CGT>CGG	p.R109R	OTOR_uc002wpk.2_RNA	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	109	SH3.				sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						AGGAACAGCGTGTGTACCAGG	0.483000												
SLC24A3	57419	broad.mit.edu	37	20	19674007	19674007	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:19674007A>G	uc002wrl.2	+	13	1626	c.1429A>G	c.(1429-1431)ATG>GTG	p.M477V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	477	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						GAAATGGTTCATGGTGACGTT	0.517000												
GZF1	64412	broad.mit.edu	37	20	23346365	23346366	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:23346365_23346366GC>AT	uc010gdb.2	+	3	1519_1520	c.1345_1346GC>AT	c.(1345-1347)GCG>ATG	p.A449M	GZF1_uc002wsy.2_Missense_Mutation_p.A449M|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.A449M	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	449	C2H2-type 5.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCAGCCGTCCGCGCTCAAGACG	0.663000												
ZNF337	26152	broad.mit.edu	37	20	25655896	25655896	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:25655896C>A	uc002wva.2	-	4	2550	c.2028G>T	c.(2026-2028)TGG>TGT	p.W676C	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.W644C|ZNF337_uc002wvb.2_Missense_Mutation_p.W676C|ZNF337_uc002wvc.2_Missense_Mutation_p.W676C	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	676	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGTGTATCCGCCAGTGGTGTC	0.512000												
CPNE1	8904	broad.mit.edu	37	20	34218844	34218844	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:34218844C>T	uc002xdf.2	-	13	1337	c.974G>A	c.(973-975)AGC>AAC	p.S325N	CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.S330N|CPNE1_uc002xde.2_Missense_Mutation_p.S301N|CPNE1_uc002xdg.2_Missense_Mutation_p.S325N|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.S325N|CPNE1_uc002xdi.2_Missense_Mutation_p.S325N|CPNE1_uc002xdj.2_Missense_Mutation_p.S325N|CPNE1_uc002xdk.2_Missense_Mutation_p.S325N|CPNE1_uc002xdl.2_Missense_Mutation_p.S325N|CPNE1_uc002xdm.2_Missense_Mutation_p.S325N|CPNE1_uc010gfk.1_3'UTR	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	325	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTGAACCACGCTGCCCACACT	0.562000												
DLGAP4	22839	broad.mit.edu	37	20	35064650	35064650	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:35064650G>A	uc002xff.2	+	4	1573	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K	DLGAP4_uc010zvp.1_Missense_Mutation_p.E380K	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	380					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGACAGCGACGAGTCCGGCGG	0.721000												
ACTR5	79913	broad.mit.edu	37	20	37396225	37396225	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:37396225C>T	uc002xjd.2	+	8	1577	c.1552C>T	c.(1552-1554)CGG>TGG	p.R518W		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	518					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				GAGACCCTTCCGGTCTTCTTT	0.383000												
LPIN3	64900	broad.mit.edu	37	20	39976275	39976275	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:39976275G>A	uc002xjx.2	+	3	367	c.276G>A	c.(274-276)CTG>CTA	p.L92L	LPIN3_uc010ggh.2_Silent_p.L92L|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	92	N-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				TTCAGGAGCTGGAGAGCGATG	0.577000												
KCNK15	60598	broad.mit.edu	37	20	43379180	43379180	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:43379180C>A	uc002xmr.2	+	2	758	c.694C>A	c.(694-696)CTC>ATC	p.L232I		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	232	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				CCTCCTGGGGCTCACGGTCAT	0.642000												
KCNS1	3787	broad.mit.edu	37	20	43723770	43723770	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:43723770C>T	uc002xnc.2	-	5	1719	c.1322G>A	c.(1321-1323)TGC>TAC	p.C441Y	KCNS1_uc002xnd.2_Missense_Mutation_p.C441Y	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	441	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CCCTAGGATGCAGCCTGAGGC	0.622000												
C20orf165	128497	broad.mit.edu	37	20	44515176	44515176	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:44515176G>A	uc002xqf.2	-	2	673	c.664C>T	c.(664-666)CCT>TCT	p.P222S		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	chromosome 20 open reading frame 165	222						integral to membrane					0		Myeloproliferative disorder(115;0.0122)				GAGCCAGGAGGCTGGCCCCTT	0.592000												
PCIF1	63935	broad.mit.edu	37	20	44569534	44569534	+	Silent	SNP	G	G	A	rs142777416	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:44569534G>A	uc002xqs.2	+	6	788	c.474G>A	c.(472-474)ACG>ACA	p.T158T		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	158						nucleus				skin(1)	1						TGTGGGGTACGTCCCCTGAAG	0.572000												
NCOA5	57727	broad.mit.edu	37	20	44691344	44691344	+	Silent	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:44691344C>A	uc002xrd.2	-	7	1863	c.1335G>T	c.(1333-1335)ACG>ACT	p.T445T	NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Silent_p.T445T	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				TGCTATTGGCCGTCACTGTGC	0.557000												
NCOA3	8202	broad.mit.edu	37	20	46265284	46265284	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:46265284C>T	uc002xtk.2	+	12	2359	c.2154C>T	c.(2152-2154)GAC>GAT	p.D718D	NCOA3_uc010ght.1_Silent_p.D728D|NCOA3_uc002xtl.2_Silent_p.D718D|NCOA3_uc002xtm.2_Silent_p.D718D|NCOA3_uc002xtn.2_Silent_p.D718D|NCOA3_uc010zyc.1_Silent_p.D513D	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	718					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CTTGTGGGGACGGAAATGTTG	0.473000												
MOCS3	27304	broad.mit.edu	37	20	49576279	49576279	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:49576279C>T	uc002xvy.1	+	1	917	c.900C>T	c.(898-900)TGC>TGT	p.C300C	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	300		Zinc (By similarity).			enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						GTGCAGCTTGCGGGGAACGGC	0.592000												
TSHZ2	128553	broad.mit.edu	37	20	51870903	51870903	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:51870903A>C	uc002xwo.2	+	2	1862	c.906A>C	c.(904-906)AAA>AAC	p.K302N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	302					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			ATTACCAAAAAGTGCCTTTGA	0.448000												
MC3R	4159	broad.mit.edu	37	20	54824313	54824313	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:54824313C>T	uc002xxb.2	+	1	526	c.414C>T	c.(412-414)ATC>ATT	p.I138I		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	175	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			TCCTGGCCATCGCCGTCGACA	0.567000												
GNAS	2778	broad.mit.edu	37	20	57415590	57415590	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:57415590C>T	uc002xzt.2	+	1	796	c.429C>T	c.(427-429)GAC>GAT	p.D143D	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCTGAAGACGATCGCGGCC	0.662000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
CDH4	1002	broad.mit.edu	37	20	60508125	60508125	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:60508125C>T	uc002ybn.1	+	14	2336	c.2322C>T	c.(2320-2322)GAC>GAT	p.D774D	CDH4_uc002ybp.1_Silent_p.D700D	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	774	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCCCGAGGACGACGTCCGCG	0.662000												
BIRC7	79444	broad.mit.edu	37	20	61870935	61870935	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:61870935G>C	uc002yej.2	+	6	1048	c.875G>C	c.(874-876)CGC>CCC	p.R292P	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.R274P	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	livin inhibitor of apoptosis isoform alpha	292					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3	all_cancers(38;2.72e-09)					GTCCGCAGCCGCGTGCGCACC	0.731000												
KCNQ2	3785	broad.mit.edu	37	20	62044868	62044868	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:62044868G>A	uc002yey.1	-	15	1875	c.1698C>T	c.(1696-1698)GAC>GAT	p.D566D	KCNQ2_uc002yez.1_Silent_p.D535D|KCNQ2_uc002yfa.1_Silent_p.D548D|KCNQ2_uc002yfb.1_Silent_p.D538D	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	566	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCTCGATGACGTCCATCACGT	0.637000												
NCAM2	4685	broad.mit.edu	37	21	22838932	22838932	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:22838932G>A	uc002yld.1	+	13	1909	c.1660G>A	c.(1660-1662)GTT>ATT	p.V554I	NCAM2_uc011acb.1_Missense_Mutation_p.V412I	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	554	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCTAGCAATGGTTGTTTTGAA	0.274000												
ADAMTS5	11096	broad.mit.edu	37	21	28315748	28315748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:28315748C>T	uc002ymg.2	-	3	2085	c.1356G>A	c.(1354-1356)TGG>TGA	p.W452*		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	452	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TGCATTTGGACCAGGGCTTAG	0.433000												
ADAMTS5	11096	broad.mit.edu	37	21	28337871	28337871	+	Silent	SNP	C	C	T	rs151274956	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:28337871C>T	uc002ymg.2	-	1	1569	c.840G>A	c.(838-840)GCG>GCA	p.A280A		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	280	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CATACAACCGCGCCATGGACG	0.682000												
N6AMT1	29104	broad.mit.edu	37	21	30250634	30250634	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:30250634C>G	uc002ymo.1	-	5	444	c.418G>C	c.(418-420)GCA>CCA	p.A140P	N6AMT1_uc002ymp.1_Missense_Mutation_p.A112P|N6AMT1_uc002ymq.1_RNA	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1	140					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity				0						GCCCAAGCTGCCTCTATTCCG	0.383000												
C21orf62	56245	broad.mit.edu	37	21	34166443	34166443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:34166443G>A	uc010glz.2	-	4	662	c.290C>T	c.(289-291)ACG>ATG	p.T97M	C21orf49_uc002yqs.2_Intron|C21orf49_uc002yqu.3_Intron|C21orf49_uc002yqt.2_Intron|C21orf62_uc011adt.1_Missense_Mutation_p.T97M|C21orf62_uc011adu.1_Missense_Mutation_p.T97M	NM_001162495	NP_001155967	Q9NYP8	CU062_HUMAN	hypothetical protein LOC56245	97										ovary(1)	1		Myeloproliferative disorder(46;0.0255)				TTGGACCAGCGTGAAGTTCAG	0.552000												
OLIG2	10215	broad.mit.edu	37	21	34399327	34399327	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:34399327G>A	uc002yqx.1	+	2	315	c.157G>A	c.(157-159)GCC>ACC	p.A53T		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	53						cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						GGAGCTGAGCGCCGAGCTGCG	0.682000			T	TRA@	T-ALL							
ERG	2078	broad.mit.edu	37	21	39795450	39795450	+	Silent	SNP	G	G	A	rs146525668		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:39795450G>A	uc010gnw.2	-	5	586	c.291C>T	c.(289-291)GGC>GGT	p.G97G	ERG_uc002yxa.2_Silent_p.G90G|ERG_uc011aek.1_5'UTR|ERG_uc010gnv.2_5'UTR|ERG_uc010gnx.2_Silent_p.G97G|ERG_uc011ael.1_Silent_p.G97G|ERG_uc002yxb.2_Silent_p.G97G|ERG_uc011aem.1_Silent_p.G90G|ERG_uc002yxc.3_Silent_p.G97G	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	97					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				CCATCTTCCCGCCTTTGGCCA	0.517000												
MX2	4600	broad.mit.edu	37	21	42771150	42771150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:42771150G>A	uc002yzf.1	+	10	1404	c.1300G>A	c.(1300-1302)GAA>AAA	p.E434K	MX2_uc002yzg.1_Missense_Mutation_p.E157K|MX2_uc010gop.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	434					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAGGACATCGAAAAGTTAGT	0.373000												
ABCG1	9619	broad.mit.edu	37	21	43708071	43708071	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:43708071G>A	uc002zaq.2	+	9	1152	c.1046G>A	c.(1045-1047)TGT>TAT	p.C349Y	ABCG1_uc002zan.2_Missense_Mutation_p.C351Y|ABCG1_uc002zam.2_Missense_Mutation_p.C327Y|ABCG1_uc002zao.2_Missense_Mutation_p.C346Y|ABCG1_uc002zap.2_Missense_Mutation_p.C349Y|ABCG1_uc002zar.2_Missense_Mutation_p.C360Y|ABCG1_uc011aev.1_Missense_Mutation_p.C360Y|ABCG1_uc010gpb.1_Translation_Start_Site	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	349	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	GAGGGCATGTGTGACTCAGAC	0.572000												
LRRC3	81543	broad.mit.edu	37	21	45876981	45876981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:45876981G>A	uc002zfa.2	+	2	747	c.454G>A	c.(454-456)GCC>ACC	p.A152T		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	152	LRR 4.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CTGCGAGTGCGCCCTGCAGGA	0.632000												
C21orf29	54084	broad.mit.edu	37	21	45953801	45953801	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:45953801G>A	uc002zfe.1	-	3	375	c.309C>T	c.(307-309)AAC>AAT	p.N103N	C21orf29_uc010gpv.1_Silent_p.N35N	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	103	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						GCAGGTACTCGTTCCTCTGTG	0.413000												
COL6A2	1292	broad.mit.edu	37	21	47546124	47546124	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:47546124G>A	uc002zia.1	+	26	2477	c.2395G>A	c.(2395-2397)GAT>AAT	p.D799N	COL6A2_uc002zhy.1_Missense_Mutation_p.D799N|COL6A2_uc002zhz.1_Missense_Mutation_p.D799N|COL6A2_uc002zib.1_Missense_Mutation_p.D205N|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	799	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAAGTTCATCGATGACATGGA	0.642000												
ARVCF	421	broad.mit.edu	37	22	19967640	19967640	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:19967640C>T	uc002zqz.2	-	6	1293	c.1022G>A	c.(1021-1023)CGG>CAG	p.R341Q	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	341					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GGGCGAGCGCCGCACCAGCCG	0.746000												
DGCR8	54487	broad.mit.edu	37	22	20073637	20073637	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:20073637G>A	uc002zri.2	+	2	501	c.151G>A	c.(151-153)GTT>ATT	p.V51I	DGCR8_uc010grz.2_Missense_Mutation_p.V51I|MIR1306_hsa-mir-1306|MI0006443_RNA|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	51	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GGTAATGGACGTTGGCTCTGG	0.597000												
PPM1F	9647	broad.mit.edu	37	22	22277735	22277735	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:22277735G>A	uc002zvp.1	-	8	1209	c.1095C>T	c.(1093-1095)GTC>GTT	p.V365V	PPM1F_uc011aik.1_Silent_p.V261V	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	365					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGTGGGGTACGACGTCAAAGA	0.672000												
ZNF280B	140883	broad.mit.edu	37	22	22842147	22842147	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:22842147T>A	uc002zwc.1	-	4	2353	c.1577A>T	c.(1576-1578)GAC>GTC	p.D526V	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGGTTCAGAGTCAGATGTGCT	0.378000												
MMP11	4320	broad.mit.edu	37	22	24122768	24122768	+	Splice_Site	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:24122768G>T	uc002zxx.2	+	4	505	c.483_splice	c.e4-1	p.R161_splice	MMP11_uc002zxy.2_Splice_Site|MMP11_uc002zxz.2_5'Flank	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein						collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CCCATCTGTAGGTACTGGCAT	0.642000												
SMARCB1	6598	broad.mit.edu	37	22	24176339	24176339	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:24176339G>A	uc002zyb.2	+	9	1337	c.1130G>A	c.(1129-1131)CGT>CAT	p.R377H	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.R368H|SMARCB1_uc002zyd.2_Missense_Mutation_p.R386H	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	377					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.R377H(4)|p.?(2)|p.R377fs*10(1)|p.L266_*386del(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGGATGAGGCGTCTTGCCAAC	0.647000			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
SUSD2	56241	broad.mit.edu	37	22	24584295	24584295	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:24584295C>T	uc002zzn.1	+	14	2488	c.2444C>T	c.(2443-2445)ACG>ATG	p.T815M		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	815	Cytoplasmic (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AAGGGCAACACGTGAGACCCC	0.657000												
CYTSA	23384	broad.mit.edu	37	22	24730508	24730508	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:24730508A>G	uc002zzw.2	+	9	2834	c.2527A>G	c.(2527-2529)ACC>GCC	p.T843A	CYTSA_uc002zzv.3_Missense_Mutation_p.T843A|CYTSA_uc011ajq.1_Missense_Mutation_p.T843A	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	843					cell cycle|cell division						0						TACAGTAAAAACCCTCATCAA	0.448000												
CCDC157	550631	broad.mit.edu	37	22	30762085	30762085	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:30762085C>T	uc011aku.1	+	3	756	c.96C>T	c.(94-96)GCC>GCT	p.A32A	CCDC157_uc011akv.1_Silent_p.A32A	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	32										central_nervous_system(1)	1						TCTCCCGCGCCGGGCCTGTGC	0.657000												
SEC14L2	23541	broad.mit.edu	37	22	30812384	30812384	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:30812384C>A	uc003ahr.2	+	11	1246	c.1073C>A	c.(1072-1074)CCT>CAT	p.P358H	SEC14L2_uc003ahq.2_Missense_Mutation_p.P358H|SEC14L2_uc011akx.1_Missense_Mutation_p.P304H|SEC14L2_uc003ahs.2_Missense_Mutation_p.P284H|SEC14L2_uc011aky.1_Missense_Mutation_p.P275H|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Missense_Mutation_p.P51H|MTP18_uc003ahv.1_Missense_Mutation_p.P182H|MTP18_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	358	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)	TGCAGTGATCCTGGCATCTGT	0.557000												
PES1	23481	broad.mit.edu	37	22	30980667	30980667	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:30980667C>T	uc003aij.1	-	5	480	c.406G>A	c.(406-408)GAT>AAT	p.D136N	PES1_uc003aik.1_Missense_Mutation_p.D136N|PES1_uc003ail.1_Missense_Mutation_p.D136N|PES1_uc003aim.1_Missense_Mutation_p.D136N|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	136	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						GAGAGGGCATCGTCCAGGTCC	0.617000												
SLC35E4	339665	broad.mit.edu	37	22	31032910	31032910	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:31032910G>A	uc003ais.1	+	1	1118	c.473G>A	c.(472-474)CGC>CAC	p.R158H	SLC35E4_uc003ait.2_Missense_Mutation_p.R146H	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	158	DUF6.|Leu-rich.					integral to membrane					0						CTGGGCCGCCGCCACCACCCA	0.682000												
MYH9	4627	broad.mit.edu	37	22	36680233	36680233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:36680233C>T	uc003apg.2	-	40	5902	c.5671G>A	c.(5671-5673)GCC>ACC	p.A1891T		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1891	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CGGCGGGAGGCGTTGGCCCGC	0.657000			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
FAM83F	113828	broad.mit.edu	37	22	40417883	40417883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:40417883G>A	uc003ayk.1	+	4	1463	c.1369G>A	c.(1369-1371)GCC>ACC	p.A457T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	457										breast(1)	1						CAATGGCATGGCCAGCTCTGT	0.652000												
ACO2	50	broad.mit.edu	37	22	41918966	41918966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:41918966G>A	uc003bac.2	+	10	1293	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H	ACO2_uc003bad.2_Missense_Mutation_p.R449H	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	424					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						GAGCAGATCCGCGCCACCATT	0.622000												
TCF20	6942	broad.mit.edu	37	22	42609415	42609415	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:42609415C>T	uc003bcj.1	-	1	2031	c.1897G>A	c.(1897-1899)GCA>ACA	p.A633T	TCF20_uc003bck.1_Missense_Mutation_p.A633T|TCF20_uc003bnt.2_Missense_Mutation_p.A633T	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						TGAGTGGCTGCAGGATCATCC	0.542000												
TCF20	6942	broad.mit.edu	37	22	42611137	42611137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:42611137G>A	uc003bcj.1	-	1	309	c.175C>T	c.(175-177)CGA>TGA	p.R59*	TCF20_uc003bck.1_Nonsense_Mutation_p.R59*|TCF20_uc003bnt.2_Nonsense_Mutation_p.R59*	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						gctcctcgtcgtccaccacca	0.303000												
SMC1B	27127	broad.mit.edu	37	22	45779402	45779402	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:45779402T>G	uc003bgc.2	-	12	2055	c.2003A>C	c.(2002-2004)GAG>GCG	p.E668A	SMC1B_uc003bgd.2_Missense_Mutation_p.E668A|SMC1B_uc003bge.1_Missense_Mutation_p.E451A	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	668	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TAACTCTTTCTCATCCCAGCA	0.348000												
CELSR1	9620	broad.mit.edu	37	22	46931661	46931661	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:46931661G>A	uc003bhw.1	-	1	1407	c.1407C>T	c.(1405-1407)CCC>CCT	p.P469P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	469	Extracellular (Potential).|Cadherin 3.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACGTCCTCGGGCACCTGGA	0.657000												
TUBGCP6	85378	broad.mit.edu	37	22	50660293	50660293	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:50660293G>A	uc003bkb.1	-	16	3007	c.2495C>T	c.(2494-2496)CCG>CTG	p.P832L	TUBGCP6_uc003bka.1_5'UTR|TUBGCP6_uc010har.1_Missense_Mutation_p.P824L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.P28L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	832					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCAGGGCCCGGAGACGTGAC	0.627000												
MAPK8IP2	23542	broad.mit.edu	37	22	51043425	51043425	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:51043425C>A	uc003bmx.2	+	6	1815	c.1698C>A	c.(1696-1698)GAC>GAA	p.D566E	MAPK8IP2_uc003bmy.2_Missense_Mutation_p.D539E|MAPK8IP2_uc011asc.1_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	566					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCGCCGGACAGCCCTGACC	0.662000												
CNTN6	27255	broad.mit.edu	37	3	1394070	1394070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:1394070C>A	uc003boz.2	+	12	1694	c.1427C>A	c.(1426-1428)TCA>TAA	p.S476*	CNTN6_uc011asj.1_Nonsense_Mutation_p.S404*|CNTN6_uc003bpa.2_Nonsense_Mutation_p.S476*	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	476	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATGCTGGATCATATACATGC	0.358000												
CNTN6	27255	broad.mit.edu	37	3	1445015	1445015	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:1445015A>G	uc003boz.2	+	23	3267	c.3000A>G	c.(2998-3000)AGA>AGG	p.R1000R	CNTN6_uc011asj.1_Silent_p.R928R|CNTN6_uc003bpa.2_Silent_p.R1000R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	1000					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGAGTTCCAGAGGAATTCAAT	0.299000												
LRRN1	57633	broad.mit.edu	37	3	3887633	3887633	+	Silent	SNP	C	C	T	rs115354749	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:3887633C>T	uc003bpt.3	+	2	2069	c.1308C>T	c.(1306-1308)AAC>AAT	p.N436N	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	436	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATCGTTTAAACGTGGATATCG	0.468000												
ATG7	10533	broad.mit.edu	37	3	11383709	11383709	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:11383709C>A	uc003bwc.2	+	11	1198	c.1081C>A	c.(1081-1083)CTT>ATT	p.L361I	ATG7_uc003bwd.2_Missense_Mutation_p.L361I|ATG7_uc011aum.1_Missense_Mutation_p.L322I	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	361					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						ATGTCTGCTGCTTGGAGCCGG	0.473000												
HDAC11	79885	broad.mit.edu	37	3	13544421	13544421	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:13544421G>A	uc003bxy.2	+	8	723	c.590G>A	c.(589-591)CGT>CAT	p.R197H	HDAC11_uc010heb.2_Missense_Mutation_p.V155M|HDAC11_uc011aux.1_Missense_Mutation_p.R5H|HDAC11_uc011auy.1_Missense_Mutation_p.R146H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	197	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2						GACGACAAGCGTGTGTACATC	0.592000												
FBLN2	2199	broad.mit.edu	37	3	13670507	13670507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:13670507C>T	uc011avb.1	+	11	2656	c.2531C>T	c.(2530-2532)GCG>GTG	p.A844V	FBLN2_uc011auz.1_Missense_Mutation_p.A870V|FBLN2_uc011ava.1_Missense_Mutation_p.A891V|FBLN2_uc011avc.1_Missense_Mutation_p.A891V	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	844	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGATCTGCGCGCGCGGCTAC	0.667000												
CHCHD4	131474	broad.mit.edu	37	3	14154633	14154633	+	Silent	SNP	G	G	A	rs148570860	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:14154633G>A	uc003byj.3	-	3	378	c.183C>T	c.(181-183)AGC>AGT	p.S61S	CHCHD4_uc003byi.3_Silent_p.S74S	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain	61	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space					0						CACAGGGACCGCTGGCCATTC	0.493000												
C3orf20	84077	broad.mit.edu	37	3	14724408	14724408	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:14724408C>T	uc003byy.2	+	3	592	c.188C>T	c.(187-189)CCG>CTG	p.P63L	C3orf20_uc003byz.2_Intron|C3orf20_uc003bza.2_Intron|C3orf20_uc003byx.1_Missense_Mutation_p.P63L	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	63						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						GTGCCTACCCCGTCCGACATC	0.512000												
BTD	686	broad.mit.edu	37	3	15686554	15686554	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:15686554G>A	uc003cah.2	+	4	1294	c.1191G>A	c.(1189-1191)GAG>GAA	p.E397E	BTD_uc011avv.1_Silent_p.E399E|BTD_uc011avw.1_Silent_p.E399E|BTD_uc011avx.1_Silent_p.E377E	NM_000060	NP_000051	P43251	BTD_HUMAN	biotinidase precursor	397					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0						TTCACTCTGAGATGATGTATG	0.498000												
THRB	7068	broad.mit.edu	37	3	24231679	24231679	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:24231679G>A	uc003ccx.3	-	5	518	c.169C>T	c.(169-171)CAT>TAT	p.H57Y	THRB_uc010hfe.2_Missense_Mutation_p.H57Y|THRB_uc003ccy.3_Missense_Mutation_p.H57Y|THRB_uc003ccz.3_Missense_Mutation_p.H52Y|THRB_uc003cdc.2_Missense_Mutation_p.H52Y|THRB_uc003cdd.2_Missense_Mutation_p.H52Y|THRB_uc003cde.1_Missense_Mutation_p.H52Y	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	57	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATGAGATGTGGCGACGAC	0.498000												
NEK10	152110	broad.mit.edu	37	3	27216220	27216220	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:27216220G>T	uc010hfk.2	-	6	775	c.546C>A	c.(544-546)GCC>GCA	p.A182A	NEK10_uc003cds.1_Silent_p.A267A|NEK10_uc010hfj.2_Silent_p.A182A			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	870							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TACCATAGGAGGCCTGGAAGC	0.507000												
FBXL2	25827	broad.mit.edu	37	3	33416811	33416811	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:33416811G>A	uc003cfp.2	+	10	760	c.689G>A	c.(688-690)TGC>TAC	p.C230Y	FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Missense_Mutation_p.C125Y|FBXL2_uc011axp.1_Missense_Mutation_p.C146Y|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	230	LRR 7.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			large_intestine(1)	1						GTGCAGATATGCAGGGGCTGT	0.537000												
CLASP2	23122	broad.mit.edu	37	3	33633950	33633950	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:33633950T>C	uc003cfu.2	-	21	2359	c.2005A>G	c.(2005-2007)ATG>GTG	p.M669V	CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.M244V	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	670										ovary(3)|central_nervous_system(1)	4						GCATTTCCCATGCCAGCAAGT	0.343000												
PLCD1	5333	broad.mit.edu	37	3	38049968	38049968	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:38049968C>T	uc003chn.2	-	12	2007	c.1883G>A	c.(1882-1884)CGG>CAG	p.R628Q	PLCD1_uc003chm.2_Missense_Mutation_p.R649Q	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	628	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAGCCGCTTCCGTGCCCACCA	0.662000												
SLC22A13	9390	broad.mit.edu	37	3	38318562	38318562	+	Silent	SNP	G	G	A	rs1065182		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:38318562G>A	uc003chz.3	+	9	1560	c.1506G>A	c.(1504-1506)ACG>ACA	p.T502T		NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	502	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGCCAGAGACGCATGGCCAGG	0.632000												
ACVR2B	93	broad.mit.edu	37	3	38518857	38518857	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:38518857C>T	uc003cif.2	+	2	156	c.132C>T	c.(130-132)AGC>AGT	p.S44S	ACVR2B_uc003cig.2_5'UTR	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	44	Extracellular (Potential).				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCAACCAGAGCGGCCTGGAGC	0.637000												
SCN10A	6336	broad.mit.edu	37	3	38755487	38755487	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:38755487G>A	uc003ciq.2	-	21	3766	c.3766C>T	c.(3766-3768)CGG>TGG	p.R1256W		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1256	III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGCAGTGGCCGCAGAGCGCGA	0.428000												
ENTPD3	956	broad.mit.edu	37	3	40442404	40442404	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:40442404C>T	uc003ckd.3	+	4	280	c.188C>T	c.(187-189)GCC>GTC	p.A63V	ENTPD3_uc010hhy.2_Missense_Mutation_p.A63V|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	63	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTGCTGGATGCCGGGTCTTCA	0.478000												
ZNF445	353274	broad.mit.edu	37	3	44497024	44497024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:44497024C>T	uc003cnf.2	-	3	366	c.18G>A	c.(16-18)TGG>TGA	p.W6*	ZNF445_uc011azv.1_Nonsense_Mutation_p.W6*|ZNF445_uc011azw.1_Nonsense_Mutation_p.W6*	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	6					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGCAGCATGCCACCTGCCTG	0.547000												
KIF15	56992	broad.mit.edu	37	3	44893719	44893719	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:44893719A>C	uc003cnx.3	+	34	4141	c.3992A>C	c.(3991-3993)AAG>ACG	p.K1331T	KIF15_uc010hiq.2_Missense_Mutation_p.K1234T|KIF15_uc010hir.2_Missense_Mutation_p.K379T	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1331	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ATGTTAAGGAAGCAGGTGGAG	0.393000												
CDCP1	64866	broad.mit.edu	37	3	45137008	45137008	+	Silent	SNP	G	G	A	rs145622666		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:45137008G>A	uc003com.2	-	5	1212	c.1077C>T	c.(1075-1077)ATC>ATT	p.I359I		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	359	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCGTGGCTCGATGGTGAGTG	0.507000												
LAMB2	3913	broad.mit.edu	37	3	49161216	49161216	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:49161216G>A	uc003cwe.2	-	24	4041	c.3742C>T	c.(3742-3744)CGC>TGC	p.R1248C		NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1248	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTGTTGCGGGCACCTACG	0.627000												
UBA7	7318	broad.mit.edu	37	3	49850585	49850585	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:49850585G>A	uc003cxr.2	-	4	548	c.377C>T	c.(376-378)GCT>GTT	p.A126V		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	126	2 approximate repeats.|1-1.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCTTTGCAGCAGTCAGCAC	0.602000												
GNAT1	2779	broad.mit.edu	37	3	50231007	50231007	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:50231007G>A	uc003cym.2	+	4	476	c.360G>A	c.(358-360)TCG>TCA	p.S120S	GNAT1_uc003cyl.2_Silent_p.S120S	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	120					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGGAGATGTCGGACATCATCC	0.612000												
C3orf45	132228	broad.mit.edu	37	3	50324510	50324510	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:50324510T>C	uc003cyz.2	+	4	399	c.372T>C	c.(370-372)AGT>AGC	p.S124S		NM_153215	NP_694947	Q8N112	CC045_HUMAN	hypothetical protein LOC132228	124						integral to membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCTGCAGAGTGAATCCCTGC	0.637000												
HYAL1	3373	broad.mit.edu	37	3	50340261	50340261	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:50340261A>G	uc003czp.2	-	2	259	c.127T>C	c.(127-129)TGC>CGC	p.C43R	HYAL1_uc003czm.2_Intron|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.C43R|HYAL1_uc003czr.2_Missense_Mutation_p.C43R|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.C43R|HYAL1_uc003czt.2_Missense_Mutation_p.C43R	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	43						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CTCTCCAGGCACCACTGGGTG	0.582000												
TLR9	54106	broad.mit.edu	37	3	52256535	52256535	+	Silent	SNP	C	C	T	rs143900156	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:52256535C>T	uc003dda.1	-	2	2431	c.1797G>A	c.(1795-1797)TCG>TCA	p.S599S	TLR9_uc003ddb.2_Silent_p.S696S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	599	Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGGCCCGCAGCGACGTACTGC	0.612000												
NEK4	6787	broad.mit.edu	37	3	52786314	52786314	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:52786314G>T	uc003dfq.3	-	7	1191	c.1002C>A	c.(1000-1002)GCC>GCA	p.A334A	NEK4_uc011bej.1_Silent_p.A245A|NEK4_uc003dfr.2_Silent_p.A334A	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	334					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGAGACCAGAGGCCCTGGGTT	0.428000												
ARHGEF3	50650	broad.mit.edu	37	3	56789110	56789110	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:56789110C>T	uc003dig.2	-	3	443	c.274G>A	c.(274-276)GCC>ACC	p.A92T	ARHGEF3_uc011bew.1_Missense_Mutation_p.A92T|ARHGEF3_uc003dih.2_Missense_Mutation_p.A124T|ARHGEF3_uc011bev.1_Missense_Mutation_p.A63T|ARHGEF3_uc003dif.2_Missense_Mutation_p.A98T|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.A92T	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	92					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTCGAGGGGGCGGCATTTCTG	0.542000												
FLNB	2317	broad.mit.edu	37	3	58141774	58141774	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:58141774C>T	uc003djj.2	+	41	7025	c.6860C>T	c.(6859-6861)GCC>GTC	p.A2287V	FLNB_uc010hne.2_Missense_Mutation_p.A2318V|FLNB_uc003djk.2_Missense_Mutation_p.A2276V|FLNB_uc010hnf.2_Missense_Mutation_p.A2263V|FLNB_uc003djl.2_Missense_Mutation_p.A2107V|FLNB_uc003djm.2_Missense_Mutation_p.A2094V	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2287	Filamin 22.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCGACGACGCCCGCCGCCTC	0.592000												
GPR27	2850	broad.mit.edu	37	3	71803351	71803351	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:71803351C>A	uc011bge.1	+	1	151	c.151C>A	c.(151-153)CGC>AGC	p.R51S	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	51	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CAGCCTGCACCGCGCCCCGTA	0.642000												
CRYBG3	131544	broad.mit.edu	37	3	97611821	97611821	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:97611821C>T	uc003drx.2	+	8	1778	c.1714C>T	c.(1714-1716)CGT>TGT	p.R572C		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						TGGATCAATTCGTGTCATTGG	0.338000												
DZIP3	9666	broad.mit.edu	37	3	108409687	108409687	+	Silent	SNP	C	C	T	rs141475495	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:108409687C>T	uc003dxd.2	+	32	3992	c.3570C>T	c.(3568-3570)CAC>CAT	p.H1190H	DZIP3_uc003dxf.1_Silent_p.H1190H|DZIP3_uc011bhm.1_Silent_p.H641H	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	1190					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCAGACTCCACGTTTTGCTAC	0.483000												
DPPA2	151871	broad.mit.edu	37	3	109027898	109027898	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:109027898C>A	uc003dxo.2	-	5	618	c.371G>T	c.(370-372)AGG>ATG	p.R124M		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	124	SAP.					nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						GTAAGCATGCCTATGAAGCCT	0.428000												
C3orf15	89876	broad.mit.edu	37	3	119462963	119462963	+	Missense_Mutation	SNP	C	C	T	rs139653997		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:119462963C>T	uc003ede.3	+	14	1899	c.1822C>T	c.(1822-1824)CGG>TGG	p.R608W	C3orf15_uc010hqz.2_Missense_Mutation_p.R546W|C3orf15_uc011bjd.1_Missense_Mutation_p.R482W|C3orf15_uc011bje.1_Missense_Mutation_p.R588W	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	444						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		GCGCCAGCGGCGGGTACGAGA	0.587000												
PLXNA1	5361	broad.mit.edu	37	3	126724052	126724052	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:126724052C>T	uc003ejg.2	+	6	1798	c.1794C>T	c.(1792-1794)TCC>TCT	p.S598S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	621	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GCTCACCCTCCGCCCGGGAGG	0.672000												
PLXNA1	5361	broad.mit.edu	37	3	126733355	126733355	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:126733355C>T	uc003ejg.2	+	12	2574	c.2570C>T	c.(2569-2571)ACG>ATG	p.T857M		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	880	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGGCGGCACGCGGCTCACT	0.697000												
ABTB1	80325	broad.mit.edu	37	3	127399132	127399132	+	Silent	SNP	C	C	T	rs140791161	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:127399132C>T	uc003ejt.2	+	12	1339	c.1251C>T	c.(1249-1251)TTC>TTT	p.F417F	ABTB1_uc003ejr.2_Silent_p.F275F|ABTB1_uc003ejs.2_Silent_p.F392F|ABTB1_uc003eju.2_Silent_p.F275F|ABTB1_uc010hsm.2_Silent_p.F144F	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	417						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						GGGAGGACTTCGTGGAGGCGG	0.682000												
MBD4	8930	broad.mit.edu	37	3	129156137	129156137	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:129156137T>G	uc003emh.1	-	3	526	c.350A>C	c.(349-351)AAG>ACG	p.K117T	IFT122_uc003eml.2_5'Flank|IFT122_uc003emm.2_5'Flank|IFT122_uc003emn.2_5'Flank|IFT122_uc003emo.2_5'Flank|IFT122_uc003emp.2_5'Flank|IFT122_uc010htc.2_5'Flank|IFT122_uc011bky.1_5'Flank|IFT122_uc003emq.2_5'Flank|MBD4_uc003emi.1_Missense_Mutation_p.K117T|MBD4_uc003emj.1_Missense_Mutation_p.K117T|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.K117T|IFT122_uc011bkx.1_5'Flank	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	117	MBD.				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2						GGATCTGAACTTCAGTCCTTG	0.333000								BER_DNA_glycosylases				
DNAJC13	23317	broad.mit.edu	37	3	132193825	132193825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:132193825C>T	uc003eor.2	+	22	2406	c.2341C>T	c.(2341-2343)CGA>TGA	p.R781*		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	781							heat shock protein binding			ovary(1)|breast(1)	2						TTTCAAAACACGAGAAGAACT	0.368000												
DNAJC13	23317	broad.mit.edu	37	3	132211259	132211259	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:132211259C>T	uc003eor.2	+	33	3690	c.3625C>T	c.(3625-3627)CGC>TGC	p.R1209C		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1209							heat shock protein binding			ovary(1)|breast(1)	2						TGATTGTAGGCGCCTGATGAT	0.373000												
AMOTL2	51421	broad.mit.edu	37	3	134090119	134090119	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:134090119C>A	uc003eqf.2	-	2	448	c.331G>T	c.(331-333)GCC>TCC	p.A111S	AMOTL2_uc003eqg.1_Missense_Mutation_p.A53S|AMOTL2_uc003eqh.1_Missense_Mutation_p.A53S	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	53										large_intestine(1)	1						TCCAGGGAGGCCTGGGGGCTC	0.692000												
PPP2R3A	5523	broad.mit.edu	37	3	135721303	135721303	+	Silent	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:135721303C>A	uc003eqv.1	+	2	1528	c.963C>A	c.(961-963)CCC>CCA	p.P321P	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	321					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						AACTGACTCCCTTCTCCCCAG	0.403000												
COPB2	9276	broad.mit.edu	37	3	139077962	139077962	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:139077962G>T	uc003etf.3	-	19	2492	c.2362C>A	c.(2362-2364)CTT>ATT	p.L788I	COPB2_uc011bmv.1_Missense_Mutation_p.L759I|COPB2_uc010hui.2_Missense_Mutation_p.L759I	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	788					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						GGGTCAGCAAGGGATTCTGCT	0.423000												
COPB2	9276	broad.mit.edu	37	3	139090584	139090584	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:139090584A>G	uc003etf.3	-	10	1316	c.1186T>C	c.(1186-1188)TGG>CGG	p.W396R	COPB2_uc011bmv.1_Missense_Mutation_p.W367R|COPB2_uc010hui.2_Missense_Mutation_p.W367R	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	396	WD 8.				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						TCGTGGGCCCATGCAAACTCC	0.458000												
SUCNR1	56670	broad.mit.edu	37	3	151599161	151599161	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:151599161A>G	uc003ezf.1	+	3	929	c.830A>G	c.(829-831)TAC>TGC	p.Y277C		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	277	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	AACTCCTTTTACATTGTGACA	0.473000												
LRRC31	79782	broad.mit.edu	37	3	169572614	169572614	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:169572614G>A	uc003fgc.1	-	6	1055	c.978C>T	c.(976-978)GAC>GAT	p.D326D	LRRC31_uc010hwp.1_Silent_p.D270D	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	326	LRR 4.									ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GTGACATCACGTCATCTGCTG	0.403000												
NLGN1	22871	broad.mit.edu	37	3	173999004	173999004	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:173999004C>T	uc003fio.1	+	7	2806	c.2383C>T	c.(2383-2385)CAC>TAC	p.H795Y	NLGN1_uc003fip.1_Missense_Mutation_p.H795Y	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	812	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCAGCCCTTACACACATTCAA	0.458000												
RTP2	344892	broad.mit.edu	37	3	187416627	187416627	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:187416627T>A	uc003fro.1	-	2	766	c.337A>T	c.(337-339)AAC>TAC	p.N113Y		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	113	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCCTCGATGTTCTCCTCCAGC	0.682000												
DLG1	1739	broad.mit.edu	37	3	196817823	196817823	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:196817823C>A	uc003fxo.3	-	16	1910	c.1720G>T	c.(1720-1722)GGT>TGT	p.G574C	DLG1_uc011bub.1_Missense_Mutation_p.G458C|DLG1_uc011buc.1_Missense_Mutation_p.G458C|DLG1_uc011bud.1_Missense_Mutation_p.G257C|DLG1_uc003fxn.3_Missense_Mutation_p.G574C|DLG1_uc011bue.1_Missense_Mutation_p.G541C|DLG1_uc010ial.2_Missense_Mutation_p.G574C|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.G541C	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	574					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CGAAGAGAACCTGACCCTGAA	0.323000												
KIAA0226	9711	broad.mit.edu	37	3	197408185	197408185	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:197408185A>C	uc003fyc.2	-	16	2428	c.2245T>G	c.(2245-2247)TGC>GGC	p.C749G	KIAA0226_uc003fyd.3_Missense_Mutation_p.C704G|KIAA0226_uc003fye.1_Missense_Mutation_p.C481G	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	749					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCGTGGCAGCACTGGCAGAAG	0.527000												
FGFRL1	53834	broad.mit.edu	37	4	1016196	1016196	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:1016196C>T	uc003gce.2	+	3	446	c.285C>T	c.(283-285)GGC>GGT	p.G95G	FGFRL1_uc003gcf.2_Silent_p.G95G|FGFRL1_uc003gcg.2_Silent_p.G95G|FGFRL1_uc010ibo.2_Silent_p.G95G	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	95	Ig-like C2-type 1.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGATGCCGGCGTGTACGTGT	0.657000												
WHSC1	7468	broad.mit.edu	37	4	1980430	1980430	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:1980430C>A	uc003gdz.3	+	22	4068	c.3892C>A	c.(3892-3894)CTC>ATC	p.L1298I	WHSC1_uc003geb.3_Missense_Mutation_p.L1298I|WHSC1_uc003gec.3_Missense_Mutation_p.L1298I|WHSC1_uc003ged.3_Missense_Mutation_p.L1298I|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.L517I|WHSC1_uc011bvh.1_Missense_Mutation_p.L359I|WHSC1_uc010icf.2_Missense_Mutation_p.L646I	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1298					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATTTTGCCACCTCTGCCCCAA	0.557000			T	IGH@	MM							
WFS1	7466	broad.mit.edu	37	4	6303935	6303935	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:6303935C>T	uc003giy.2	+	8	2579	c.2413C>T	c.(2413-2415)CGG>TGG	p.R805W	WFS1_uc003gix.2_Missense_Mutation_p.R805W|WFS1_uc003giz.2_Missense_Mutation_p.R623W	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	805					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CATCGTGCTGCGGGCCAGCAG	0.657000												
PPP2R2C	5522	broad.mit.edu	37	4	6331024	6331024	+	Silent	SNP	G	G	A	rs145291210		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:6331024G>A	uc003gjc.2	-	8	1387	c.1017C>T	c.(1015-1017)TTC>TTT	p.F339F	PPP2R2C_uc003gjb.2_Silent_p.F322F|PPP2R2C_uc011bwd.1_Silent_p.F332F|PPP2R2C_uc011bwe.1_Silent_p.F332F|PPP2R2C_uc003gja.2_Silent_p.F339F	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	339	WD 6.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CAAACTTGTCGAAAATGCAGT	0.592000												
CPEB2	132864	broad.mit.edu	37	4	15067820	15067820	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:15067820A>G	uc003gni.1	+	11	1673	c.1586A>G	c.(1585-1587)GAA>GGA	p.E529G	CPEB2_uc003gnj.1_Missense_Mutation_p.E499G|CPEB2_uc003gnk.1_Missense_Mutation_p.E537G|CPEB2_uc003gnl.1_Missense_Mutation_p.E510G|CPEB2_uc003gnm.1_Missense_Mutation_p.E507G|CPEB2_uc003gnn.1_Missense_Mutation_p.E502G	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	529					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						ATGTGTGATGAATGCCAGGGC	0.423000												
SEL1L3	23231	broad.mit.edu	37	4	25759394	25759394	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:25759394G>A	uc003gru.3	-	22	3254	c.3102C>T	c.(3100-3102)AAC>AAT	p.N1034N	SEL1L3_uc003grt.2_Silent_p.N82N|SEL1L3_uc003grv.2_Silent_p.N441N	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	1034						integral to membrane	binding				0						AGGACTCCTCGTTACTGTGGC	0.567000												
RFC1	5981	broad.mit.edu	37	4	39308307	39308307	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:39308307A>T	uc003gty.1	-	14	2037	c.1903T>A	c.(1903-1905)TTT>ATT	p.F635I	RFC1_uc003gtx.1_Missense_Mutation_p.F634I	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	635					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TTGCCGGAAAATTTACCAAAC	0.448000												
SHISA3	152573	broad.mit.edu	37	4	42403209	42403209	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:42403209C>A	uc003gwp.2	+	2	676	c.458C>A	c.(457-459)ACC>AAC	p.T153N		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	153	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						CTGACCTCCACCAGCCCCAGG	0.647000												
GABRB1	2560	broad.mit.edu	37	4	47427857	47427857	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:47427857G>A	uc003gxh.2	+	9	1621	c.1247G>A	c.(1246-1248)CGC>CAC	p.R416H	GABRB1_uc011bze.1_Missense_Mutation_p.R346H	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	416	Cytoplasmic (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			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCTACGGGCGCGCCCTGGAC	0.642000												
CLOCK	9575	broad.mit.edu	37	4	56345050	56345050	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:56345050C>T	uc003haz.1	-	7	1114	c.188G>A	c.(187-189)GGT>GAT	p.G63D	CLOCK_uc003hba.1_Missense_Mutation_p.G63D	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	63	Helix-loop-helix motif.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			tctagcattaccaggaagcat	0.149000												
UGT2B10	7365	broad.mit.edu	37	4	69696564	69696564	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:69696564T>C	uc003hee.2	+	6	1579	c.1554T>C	c.(1552-1554)TTT>TTC	p.F518F	UGT2B10_uc011cam.1_Silent_p.F434F	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	518					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						TCTGGAAGTTTGCTAGAAAAG	0.393000												
NPFFR2	10886	broad.mit.edu	37	4	72897770	72897770	+	Missense_Mutation	SNP	G	G	T	rs146044348	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:72897770G>T	uc003hgg.2	+	1	250	c.152G>T	c.(151-153)AGC>ATC	p.S51I	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	51	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGGAGTGGAGCAGGCAGTCC	0.677000												
C4orf26	152816	broad.mit.edu	37	4	76481344	76481344	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:76481344G>C	uc003hip.1	+	1	87	c.52G>C	c.(52-54)GTA>CTA	p.V18L	C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.V18L	NM_178497	NP_848592	Q17RF5	CD026_HUMAN	hypothetical protein LOC152816 precursor	18						extracellular region					0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTGGTTGGTGGTAACTGTGGC	0.443000												
SHROOM3	57619	broad.mit.edu	37	4	77663059	77663059	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:77663059G>A	uc011cbx.1	+	5	4686	c.3733G>A	c.(3733-3735)GCC>ACC	p.A1245T	SHROOM3_uc011cbz.1_Missense_Mutation_p.A1069T|SHROOM3_uc003hkf.1_Missense_Mutation_p.A1120T|SHROOM3_uc003hkg.2_Missense_Mutation_p.A1023T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1245					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)			GTCATCTCCCGCCACCGCAGA	0.657000												
WDFY3	23001	broad.mit.edu	37	4	85707176	85707176	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:85707176G>A	uc003hpd.2	-	24	4426	c.4018C>T	c.(4018-4020)CGG>TGG	p.R1340W		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1340						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACACTTTCCGGATTCTTGCC	0.463000												
KLHL8	57563	broad.mit.edu	37	4	88091723	88091723	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:88091723A>G	uc011cdb.1	-	7	1638	c.1253T>C	c.(1252-1254)ATT>ACT	p.I418T	KLHL8_uc003hql.1_Missense_Mutation_p.I418T|KLHL8_uc003hqm.1_Missense_Mutation_p.I342T|KLHL8_uc003hqn.1_Missense_Mutation_p.I235T|KLHL8_uc010ikj.1_Missense_Mutation_p.I67T	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	418	Kelch 3.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TAACCCTCCAATTGCATAAAT	0.413000												
ADAD1	132612	broad.mit.edu	37	4	123302332	123302332	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:123302332A>G	uc003ieo.2	+	4	590	c.358A>G	c.(358-360)ACA>GCA	p.T120A	ADAD1_uc003iep.2_Missense_Mutation_p.T120A|ADAD1_uc003ieq.2_Missense_Mutation_p.T102A	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	120	DRBM.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						AACTGTGACAACAGGCAAGTG	0.353000												
FAT4	79633	broad.mit.edu	37	4	126238516	126238516	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:126238516G>A	uc003ifj.3	+	1	950	c.950G>A	c.(949-951)CGC>CAC	p.R317H		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	317	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAAGCTCGGCGCCAATACTCG	0.627000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HHIP	64399	broad.mit.edu	37	4	145629414	145629414	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:145629414A>G	uc003ijs.1	+	7	1907	c.1252A>G	c.(1252-1254)ACC>GCC	p.T418A		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	418						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTTCAACAGCACCAACCAGCC	0.542000												
DCHS2	54798	broad.mit.edu	37	4	155243618	155243618	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:155243618C>A	uc003inw.2	-	13	2676	c.2676G>T	c.(2674-2676)AAG>AAT	p.K892N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	892	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCGTCAATCTTAAAGTGAT	0.348000												
FNIP2	57600	broad.mit.edu	37	4	159756589	159756589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:159756589G>T	uc003iqe.3	+	7	871	c.688G>T	c.(688-690)GGA>TGA	p.G230*		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	230					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCCAAGCAGAGGACAGAATGA	0.408000												
SC4MOL	6307	broad.mit.edu	37	4	166254715	166254715	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:166254715T>C	uc003ire.2	+	2	323	c.193T>C	c.(193-195)TTC>CTC	p.F65L	SC4MOL_uc010irb.2_Missense_Mutation_p.F65L|SC4MOL_uc003irf.2_Intron	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	65	Helical; (Potential).				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	TTATTTCTTATTCTGTTTACC	0.274000												
ODZ3	55714	broad.mit.edu	37	4	183714323	183714323	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:183714323C>A	uc003ivd.1	+	25	6535	c.6498C>A	c.(6496-6498)AAC>AAA	p.N2166K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2166	Extracellular (Potential).|YD 19.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACCCAAGTAACAGTGCGCGTC	0.453000												
EXOC3	11336	broad.mit.edu	37	5	464452	464452	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:464452C>T	uc003jba.2	+	10	1829	c.1701C>T	c.(1699-1701)AAC>AAT	p.N567N		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	578					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAGGGTCAAACGCTGTAGACA	0.418000												
CDH6	1004	broad.mit.edu	37	5	31297469	31297469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:31297469C>A	uc003jhe.1	+	4	923	c.597C>A	c.(595-597)TAC>TAA	p.Y199*	CDH6_uc003jhd.1_Nonsense_Mutation_p.Y199*	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	199	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						AAGTTGTCTACAGTATTCTAC	0.353000												
ITGA1	3672	broad.mit.edu	37	5	52194127	52194127	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:52194127A>G	uc003jou.2	+	11	1275	c.1223A>G	c.(1222-1224)CAG>CGG	p.Q408R	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	408	Extracellular (Potential).|FG-GAP 3.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTGTCATGCAGAAGGCTAGT	0.348000												
SNX18	112574	broad.mit.edu	37	5	53815059	53815059	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:53815059G>A	uc003jpj.3	+	1	1467	c.1277G>A	c.(1276-1278)AGC>AAC	p.S426N	SNX18_uc011cqg.1_Missense_Mutation_p.S426N|SNX18_uc003jpi.3_Missense_Mutation_p.S426N	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	426	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GAGGTGGAGAGCAAGATCGAC	0.632000												
C5orf35	133383	broad.mit.edu	37	5	56209750	56209750	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:56209750A>G	uc003jqx.2	+	4	1013	c.640A>G	c.(640-642)ACA>GCA	p.T214A	C5orf35_uc003jqy.2_RNA	NM_153706	NP_714917	Q8NE22	CE035_HUMAN	hypothetical protein LOC133383	214										ovary(1)	1		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)		GAGTGATAGTACATGGCTAAC	0.413000												
VCAN	1462	broad.mit.edu	37	5	82835591	82835591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:82835591G>T	uc003kii.3	+	8	7125	c.6769G>T	c.(6769-6771)GGA>TGA	p.G2257*	VCAN_uc003kij.3_Nonsense_Mutation_p.G1270*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.G921*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2257	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTCTGGACTGGGATCAGGAGA	0.378000												
POU5F2	134187	broad.mit.edu	37	5	93076993	93076993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:93076993G>A	uc003kkl.1	-	1	317	c.277C>T	c.(277-279)CGA>TGA	p.R93*	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	93						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GAGGGGCGTCGCAACCAGTCC	0.652000												
DMXL1	1657	broad.mit.edu	37	5	118507479	118507479	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:118507479T>C	uc003ksd.2	+	25	6677	c.6496T>C	c.(6496-6498)TCA>CCA	p.S2166P	DMXL1_uc010jcl.1_Missense_Mutation_p.S2166P	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2166										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TAAGGAAACATCAGAACCACT	0.378000												
ZNF474	133923	broad.mit.edu	37	5	121488779	121488779	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:121488779A>G	uc003ksv.2	+	2	1470	c.1094A>G	c.(1093-1095)TAG>TGG	p.*365W		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	365						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CTCTGCCTGTAGGGGAACAAG	0.483000												
GFRA3	2676	broad.mit.edu	37	5	137593489	137593489	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:137593489G>A	uc003lcn.2	-	4	764	c.624C>T	c.(622-624)GCC>GCT	p.A208A	GFRA3_uc003lco.2_Silent_p.A177A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	208					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726000												
SLC23A1	9963	broad.mit.edu	37	5	138715024	138715024	+	Silent	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:138715024C>A	uc003leh.2	-	9	1042	c.945G>T	c.(943-945)ACG>ACT	p.T315T	SLC23A1_uc003leg.2_Silent_p.T319T	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	315	Helical; (Potential).				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCGCAGTCACCGTGGGCAGGC	0.602000												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139886500	139886500	+	Silent	SNP	G	G	A	rs138245853	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:139886500G>A	uc003lfs.1	+	19	3613	c.3489G>A	c.(3487-3489)GCG>GCA	p.A1163A	ANKHD1_uc003lfq.1_Silent_p.A1182A|ANKHD1_uc003lfr.2_Silent_p.A1163A|ANKHD1_uc003lft.1_Silent_p.A374A|ANKHD1_uc003lfu.1_Silent_p.A643A|ANKHD1_uc003lfv.1_Silent_p.A240A|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1163						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTAGCTGCGTCTGGAGGAT	0.373000												
APBB3	10307	broad.mit.edu	37	5	139938321	139938321	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:139938321C>A	uc003lgd.1	-	12	1684	c.1325G>T	c.(1324-1326)CGG>CTG	p.R442L	SRA1_uc003lfz.2_5'Flank|SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.R214L|APBB3_uc003lgc.1_Missense_Mutation_p.R214L|APBB3_uc003lge.1_Missense_Mutation_p.R435L|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.R214L	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	437	PID 2.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCCGCTTGAGCCG	0.667000												
PCDHA2	56146	broad.mit.edu	37	5	140176039	140176039	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140176039G>A	uc003lhd.2	+	1	1596	c.1490G>A	c.(1489-1491)CGG>CAG	p.R497Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R497Q|PCDHA2_uc011czy.1_Missense_Mutation_p.R497Q	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAGCGGCGGGTGGGC	0.672000												
PCDHA3	56145	broad.mit.edu	37	5	140182650	140182650	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140182650G>A	uc003lhf.2	+	1	1868	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R623H	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCGTTTCGCGTGGGGCTG	0.657000												
PCDHA6	56142	broad.mit.edu	37	5	140208784	140208784	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140208784G>A	uc003lho.2	+	1	1135	c.1108G>A	c.(1108-1110)GCC>ACC	p.A370T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.A370T|PCDHA6_uc011dab.1_Missense_Mutation_p.A370T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	370	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGTCATCGCCCTAATTAG	0.483000												
PCDHA7	56141	broad.mit.edu	37	5	140215475	140215475	+	Missense_Mutation	SNP	G	G	A	rs147416989	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140215475G>A	uc003lhq.2	+	1	1507	c.1507G>A	c.(1507-1509)GCG>ACG	p.A503T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A503T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCGCGCGCTGTCGAG	0.677000												
PCDHA12	56137	broad.mit.edu	37	5	140256960	140256960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140256960C>T	uc003lic.2	+	1	2030	c.1903C>T	c.(1903-1905)CGC>TGC	p.R635C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R635C	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGACACGCATCCTGGA	0.677000												
PCDHB2	56133	broad.mit.edu	37	5	140476279	140476279	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140476279C>T	uc003lil.2	+	1	2043	c.1905C>T	c.(1903-1905)CGC>CGT	p.R635R	PCDHB2_uc003lim.1_Silent_p.R296R	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	635	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGGGAGCGCGACGCTGCCA	0.697000												
PCDHB7	56129	broad.mit.edu	37	5	140553151	140553151	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140553151G>A	uc003lit.2	+	1	909	c.735G>A	c.(733-735)TCG>TCA	p.S245S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	245	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTGCGGTCGCTCTACAAGG	0.542000												
PCDHB16	57717	broad.mit.edu	37	5	140562820	140562820	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140562820G>A	uc003liv.2	+	1	1841	c.686G>A	c.(685-687)CGT>CAT	p.R229H	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	229	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCAGGTCCGTATTGAAGTG	0.527000												
PCDHB16	57717	broad.mit.edu	37	5	140564112	140564112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140564112G>A	uc003liv.2	+	1	3133	c.1978G>A	c.(1978-1980)GTG>ATG	p.V660M	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	660	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.706000												
PCDHB13	56123	broad.mit.edu	37	5	140595831	140595831	+	Silent	SNP	G	G	A	rs145378952		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140595831G>A	uc003lja.1	+	1	2323	c.2136G>A	c.(2134-2136)CGG>CGA	p.R712R		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	712	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGTGCGGCTGTGTAGGA	0.662000												
PCDHB15	56121	broad.mit.edu	37	5	140627138	140627138	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140627138C>T	uc003lje.2	+	1	1992	c.1992C>T	c.(1990-1992)GAC>GAT	p.D664D		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	664	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCTC	0.687000												
PCDHGB1	56104	broad.mit.edu	37	5	140730146	140730146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140730146G>A	uc003ljo.1	+	1	319	c.319G>A	c.(319-321)GCT>ACT	p.A107T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.A107T	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	107	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAACGGTCGCTGAAAACCC	0.418000												
PCDHGA4	56111	broad.mit.edu	37	5	140735645	140735645	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140735645A>C	uc003ljq.1	+	1	878	c.878A>C	c.(877-879)CAG>CCG	p.Q293P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.Q293P	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	293	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTATTTCAGTTGAATTCT	0.443000												
PCDHGA4	56111	broad.mit.edu	37	5	140736919	140736919	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140736919C>T	uc003ljq.1	+	1	2152	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R718C|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	718	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTGAGACGCTGGCACAA	0.617000												
PCDHGB2	56103	broad.mit.edu	37	5	140739977	140739977	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140739977G>A	uc003ljs.1	+	1	275	c.275G>A	c.(274-276)CGA>CAA	p.R92Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.R92Q	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	92	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATAGACCGAGAACAGATA	0.473000												
PCDHGA5	56110	broad.mit.edu	37	5	140745880	140745880	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140745880C>T	uc003lju.1	+	1	1983	c.1983C>T	c.(1981-1983)ACC>ACT	p.T661T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.T661T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	661	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACGGTCACCGTTGCCGTGG	0.622000												
PCDHGA5	56110	broad.mit.edu	37	5	140746290	140746290	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140746290A>C	uc003lju.1	+	1	2393	c.2393A>C	c.(2392-2394)GAT>GCT	p.D798A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D798A	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	798	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAAGGTAGATGCAAACAAA	0.428000												
PCDHGA6	56109	broad.mit.edu	37	5	140754085	140754085	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140754085C>T	uc003ljy.1	+	1	435	c.435C>T	c.(433-435)AAC>AAT	p.N145N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.N145N	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	145	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCGAAAACGCAGCTCCAT	0.413000												
PCDHGA6	56109	broad.mit.edu	37	5	140755360	140755360	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140755360C>T	uc003ljy.1	+	1	1710	c.1710C>T	c.(1708-1710)GAC>GAT	p.D570D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.D570D	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	570	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.667000												
PCDHGB5	56101	broad.mit.edu	37	5	140778577	140778577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140778577G>A	uc003lkf.1	+	1	883	c.883G>A	c.(883-885)GGA>AGA	p.G295R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.G295R	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	295	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAAGAGCGGAGAAATTAC	0.433000												
PCDHGA12	26025	broad.mit.edu	37	5	140811976	140811976	+	Silent	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140811976G>C	uc003lkt.1	+	1	1819	c.1650G>C	c.(1648-1650)CTG>CTC	p.L550L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L550L	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	550	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGAGCCTGTTCGTGCTGG	0.642000												
PCDHGA12	26025	broad.mit.edu	37	5	140812146	140812146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140812146G>A	uc003lkt.1	+	1	1989	c.1820G>A	c.(1819-1821)CGT>CAT	p.R607H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R607H	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	607	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCTACCGTCTGCTCAAG	0.697000												
PCDHGC3	5098	broad.mit.edu	37	5	140856225	140856225	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:140856225C>T	uc003lkv.1	+	1	657	c.542C>T	c.(541-543)GCG>GTG	p.A181V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.A181V|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	181	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATACTTTGCGCTTCGCGTG	0.607000												
ABLIM3	22885	broad.mit.edu	37	5	148619396	148619396	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:148619396C>T	uc003lpy.2	+	13	1400	c.1149C>T	c.(1147-1149)AGC>AGT	p.S383S	ABLIM3_uc003lpz.1_Silent_p.S383S|ABLIM3_uc003lqa.1_Silent_p.S329S|ABLIM3_uc003lqb.2_Silent_p.S321S|ABLIM3_uc003lqc.1_Silent_p.S383S|ABLIM3_uc003lqd.1_Silent_p.S321S|ABLIM3_uc003lqf.2_Silent_p.S321S|ABLIM3_uc003lqe.1_Silent_p.S321S	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	383					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTACAGCCGGCAGGGCA	0.632000												
GPX3	2878	broad.mit.edu	37	5	150400298	150400298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:150400298C>T	uc011dcm.1	+	1	300	c.83C>T	c.(82-84)TCG>TTG	p.S28L	GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA	NM_002084	NP_002075	P22352	GPX3_HUMAN	glutathione peroxidase 3 precursor	28					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CAAGAGAAGTCGAAGGTGAGT	0.687000												
G3BP1	10146	broad.mit.edu	37	5	151183470	151183470	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:151183470C>T	uc003lun.2	+	12	1390	c.1219C>T	c.(1219-1221)CGT>TGT	p.R407C	G3BP1_uc003lum.2_Missense_Mutation_p.R407C|G3BP1_uc011dcu.1_Missense_Mutation_p.R225C|G3BP1_uc010jhz.2_Missense_Mutation_p.R225C|G3BP1_uc003luq.2_Missense_Mutation_p.R75C	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	407	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGGTGAGGTCCGTCTGAATGT	0.522000												
MRPL22	29093	broad.mit.edu	37	5	154346305	154346305	+	Missense_Mutation	SNP	C	C	T	rs113240119	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:154346305C>T	uc003lvy.3	+	7	507	c.469C>T	c.(469-471)CGC>TGC	p.R157C	MRPL22_uc003lvz.3_Missense_Mutation_p.R77C	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22 isoform a	157					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGCAGAGGTCGCTTTGGGAT	0.512000												
ODZ2	57451	broad.mit.edu	37	5	167379678	167379678	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:167379678C>T	uc010jjd.2	+	4	798	c.798C>T	c.(796-798)TCC>TCT	p.S266S	ODZ2_uc003lzq.2_Silent_p.S145S|ODZ2_uc003lzr.3_Silent_p.S75S	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACCACTCGTCCGCCAACTCCC	0.622000												
SLIT3	6586	broad.mit.edu	37	5	168096798	168096798	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:168096798G>C	uc003mab.2	-	35	4746	c.4326C>G	c.(4324-4326)CAC>CAG	p.H1442Q	SLIT3_uc010jjg.2_Missense_Mutation_p.H1449Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1442	EGF-like 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGTTGGCAGTGCTCGCCGC	0.468000												
ZNF354B	117608	broad.mit.edu	37	5	178310319	178310319	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:178310319T>C	uc003mjl.2	+	5	1092	c.866T>C	c.(865-867)TTA>TCA	p.L289S	ZNF354B_uc003mjm.2_Missense_Mutation_p.L289S	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	289	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTAAGCATTTAAGGACCCAT	0.383000												
GRM6	2916	broad.mit.edu	37	5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:178410024C>T	uc003mjr.2	-	9	2502	c.2323G>A	c.(2323-2325)GTG>ATG	p.V775M	GRM6_uc003mjq.2_Missense_Mutation_p.V178M	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	775	Cytoplasmic (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCGGGCACGCCACGGGCC	0.597000												
TBC1D9B	23061	broad.mit.edu	37	5	179302056	179302056	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:179302056C>T	uc003mlh.2	-	12	2069	c.2032G>A	c.(2032-2034)GTC>ATC	p.V678I	TBC1D9B_uc003mli.2_Missense_Mutation_p.V678I|TBC1D9B_uc003mlj.2_Missense_Mutation_p.V678I|TBC1D9B_uc011dgv.1_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	678	Helical; (Potential).|Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGGCATGACGCTGAGGAAG	0.602000												
SLC22A23	63027	broad.mit.edu	37	6	3324124	3324124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:3324124C>T	uc003mvm.3	-	4	1026	c.1026G>A	c.(1024-1026)TGG>TGA	p.W342*	SLC22A23_uc003mvn.3_Nonsense_Mutation_p.W61*|SLC22A23_uc003mvo.3_Nonsense_Mutation_p.W61*|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Nonsense_Mutation_p.W342*|SLC22A23_uc010jno.2_Nonsense_Mutation_p.W342*	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	342					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GCAGCACCTGCCAATCCCGGC	0.632000												
KDM1B	221656	broad.mit.edu	37	6	18208403	18208403	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:18208403C>A	uc003nco.1	+	10	1298	c.1223C>A	c.(1222-1224)ACC>AAC	p.T408N	KDM1B_uc003ncn.1_Missense_Mutation_p.T379N	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	611					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						GTGCAGGTTACCACTACAGAT	0.473000												
ZNF184	7738	broad.mit.edu	37	6	27420689	27420689	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:27420689T>A	uc003njj.2	-	5	1460	c.649A>T	c.(649-651)AAA>TAA	p.K217*	ZNF184_uc010jqv.2_Nonsense_Mutation_p.K217*|ZNF184_uc003nji.2_Nonsense_Mutation_p.K217*	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCTCTTTTTTAACTGGGTTT	0.378000												
OR12D2	26529	broad.mit.edu	37	6	29364789	29364789	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:29364789C>T	uc003nmf.3	+	1	374	c.313C>T	c.(313-315)CTG>TTG	p.L105L		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTTCCACTCCCTGGGCAGCAC	0.493000												
VARS	7407	broad.mit.edu	37	6	31746992	31746992	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:31746992C>T	uc003nxe.2	-	29	3901	c.3478G>A	c.(3478-3480)GCA>ACA	p.A1160T	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.A97T	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1160					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	ACCACACCTGCGCTGGCCAGG	0.687000												
COL11A2	1302	broad.mit.edu	37	6	33133371	33133371	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:33133371G>A	uc003ocx.1	-	63	4933	c.4705C>T	c.(4705-4707)CGC>TGC	p.R1569C	COL11A2_uc010jul.1_Missense_Mutation_p.R139C|COL11A2_uc003ocy.1_Missense_Mutation_p.R1483C|COL11A2_uc003ocz.1_Missense_Mutation_p.R1462C	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1569	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						TGGCAGGTGCGAGCAGGGCTG	0.622000												
DAXX	1616	broad.mit.edu	37	6	33289268	33289268	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:33289268G>A	uc003oec.2	-	3	488	c.284C>T	c.(283-285)GCC>GTC	p.A95V	DAXX_uc011drd.1_Missense_Mutation_p.A20V|DAXX_uc011dre.1_Missense_Mutation_p.A107V|DAXX_uc003oed.2_Missense_Mutation_p.A95V|DAXX_uc010juw.2_Missense_Mutation_p.A20V	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	95	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						CAGAGAGTGGGCACGTTGCTG	0.517000			Mis|F|N		Pancreatic neuroendocrine tumors							
ITPR3	3710	broad.mit.edu	37	6	33662760	33662760	+	Silent	SNP	C	C	T	rs141751520	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:33662760C>T	uc011drk.1	+	57	8064	c.7845C>T	c.(7843-7845)GGC>GGT	p.G2615G	C6orf125_uc003oez.1_RNA	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2615	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GCAATGAGGGCGAGGGGGAGC	0.582000												
LRFN2	57497	broad.mit.edu	37	6	40399690	40399690	+	Missense_Mutation	SNP	C	C	T	rs148386118		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:40399690C>T	uc003oph.1	-	2	1628	c.1163G>A	c.(1162-1164)CGC>CAC	p.R388H		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	388	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGTGCAGTGCGGCTGGTGCT	0.662000												
FOXP4	116113	broad.mit.edu	37	6	41533594	41533594	+	Silent	SNP	C	C	T	rs149894394		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:41533594C>T	uc003oql.2	+	2	554	c.96C>T	c.(94-96)GGC>GGT	p.G32G	FOXP4_uc003oqm.2_Silent_p.G32G|FOXP4_uc003oqn.2_Silent_p.G32G	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	32					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCAGCAGCGGCGGGGCCACAG	0.627000												
CUL9	23113	broad.mit.edu	37	6	43190359	43190359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:43190359G>T	uc003ouk.2	+	37	7087	c.7012G>T	c.(7012-7014)GGA>TGA	p.G2338*	CUL9_uc003oul.2_Nonsense_Mutation_p.G2310*|CUL9_uc010jyk.2_Nonsense_Mutation_p.G1490*|CUL9_uc003oun.2_Nonsense_Mutation_p.G133*	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2338					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TGCCTGCCAGGGACTGGAGCA	0.612000												
BAI3	577	broad.mit.edu	37	6	69759195	69759195	+	Missense_Mutation	SNP	G	G	A	rs112866971		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:69759195G>A	uc003pev.3	+	15	2738	c.2290G>A	c.(2290-2292)GCA>ACA	p.A764T	BAI3_uc010kak.2_Missense_Mutation_p.A764T	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	764	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGTTCTTGGCGCAGTCCTATA	0.274000												
B3GAT2	135152	broad.mit.edu	37	6	71571627	71571627	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:71571627C>T	uc003pfv.2	-	3	1447	c.791G>A	c.(790-792)CGT>CAT	p.R264H	SMAP1_uc003pfr.2_3'UTR|SMAP1_uc003pfs.2_3'UTR|SMAP1_uc010kao.2_3'UTR|SMAP1_uc010kap.2_3'UTR|B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.R264H	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	264	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GGATCCACGACGCTTAAATAC	0.373000												
RIMS1	22999	broad.mit.edu	37	6	72892034	72892034	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:72892034A>G	uc003pga.2	+	6	937	c.860A>G	c.(859-861)AAG>AGG	p.K287R	RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	287					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGAGCCCTGAAGAGCGAGCGG	0.537000												
RIMS1	22999	broad.mit.edu	37	6	72892074	72892074	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:72892074C>T	uc003pga.2	+	6	977	c.900C>T	c.(898-900)CCC>CCT	p.P300P	RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	300					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGCGCAGCCCGTGGAGGGGG	0.572000												
TPBG	7162	broad.mit.edu	37	6	83075087	83075087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:83075087G>A	uc003pjn.3	+	3	1345	c.409G>A	c.(409-411)GCC>ACC	p.A137T	TPBG_uc010kbj.2_Missense_Mutation_p.A137T|TPBG_uc003pjo.2_Missense_Mutation_p.A137T	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	137	Extracellular (Potential).|LRR 2.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCGCGCGGGCGCCTTCGAGCA	0.736000												
TBX18	9096	broad.mit.edu	37	6	85446535	85446535	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:85446535C>T	uc003pkl.1	-	8	1692	c.1692G>A	c.(1690-1692)ACG>ACA	p.T564T	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	564					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCTGCCGATCCGTCATGGTCC	0.522000												
TBX18	9096	broad.mit.edu	37	6	85473619	85473619	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:85473619C>T	uc003pkl.1	-	1	281	c.281G>A	c.(280-282)CGC>CAC	p.R94H	TBX18_uc010kbq.1_5'Flank	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	94					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CGCGGCTCCGCGCTCCAGGTC	0.667000												
RRAGD	58528	broad.mit.edu	37	6	90097168	90097168	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:90097168G>A	uc003pnd.3	-	2	573	c.290C>T	c.(289-291)ACT>ATT	p.T97I	RRAGD_uc010kcc.2_Intron	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	97					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TATCTTATTAGTGCTCTCCAA	0.438000												
SFRS18	25957	broad.mit.edu	37	6	99848984	99848984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:99848984C>T	uc003ppo.3	-	12	2078	c.1850G>A	c.(1849-1851)CGT>CAT	p.R617H	SFRS18_uc003ppl.2_Missense_Mutation_p.R163H|SFRS18_uc003ppp.3_Missense_Mutation_p.R617H|SFRS18_uc011eag.1_Missense_Mutation_p.R617H	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	617						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TCTACTTCTACGTCTCTCTCG	0.438000												
BEND3	57673	broad.mit.edu	37	6	107389968	107389968	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:107389968G>A	uc003prs.2	-	5	3077	c.2427C>T	c.(2425-2427)TGC>TGT	p.C809C		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	809	BEN 4.									ovary(3)	3						TGGGGCGGCGGCACCTCTCAT	0.582000												
SOBP	55084	broad.mit.edu	37	6	107955723	107955723	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:107955723G>A	uc003prx.2	+	6	2179	c.1675G>A	c.(1675-1677)GGG>AGG	p.G559R		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	559							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)		CTCCAGCAACGGGGAGAACTT	0.687000												
GPR6	2830	broad.mit.edu	37	6	110300781	110300781	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:110300781G>A	uc011eaw.1	+	2	646	c.466G>A	c.(466-468)GTC>ATC	p.V156I	GPR6_uc011eav.1_Missense_Mutation_p.V171I|GPR6_uc003ptu.2_Missense_Mutation_p.V156I	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	156	Helical; Name=3; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CGCCGCCTCTGTCAGCAGCCT	0.612000												
WISP3	8838	broad.mit.edu	37	6	112375318	112375318	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:112375318G>A	uc003pvm.2	+	1	41	c.-69G>A	c.(-71--67)CTGTG>CTATG		WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_5'Flank	NM_003880	NP_003871	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3						cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTCCTGACCTGTGACACGCTC	0.493000												
LAMA4	3910	broad.mit.edu	37	6	112476147	112476147	+	Silent	SNP	C	C	T	rs140246538	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:112476147C>T	uc003pvu.2	-	16	2271	c.1962G>A	c.(1960-1962)GCG>GCA	p.A654A	LAMA4_uc003pvv.2_Silent_p.A647A|LAMA4_uc003pvt.2_Silent_p.A647A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	654	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCCACTCACCGCCTACAAAG	0.383000												
FRK	2444	broad.mit.edu	37	6	116288822	116288822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:116288822G>A	uc003pwi.1	-	4	1138	c.691C>T	c.(691-693)CGC>TGC	p.R231C		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	231					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		ATGGAGTTGCGGTCTATCTCC	0.418000												
C6orf174	387104	broad.mit.edu	37	6	127836907	127836907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:127836907C>T	uc003qbd.2	-	2	1718	c.853G>A	c.(853-855)GGC>AGC	p.G285S		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	285						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTACTGCTGCCGCCGCCGTTC	0.706000												
LAMA2	3908	broad.mit.edu	37	6	129835564	129835564	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:129835564A>G	uc003qbn.2	+	63	9140	c.9035A>G	c.(9034-9036)TAT>TGT	p.Y3012C	LAMA2_uc003qbo.2_Missense_Mutation_p.Y3008C|uc003qbq.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	3012	Laminin G-like 5.				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)		ACTGCTGTCTATGATGCTGGG	0.453000												
SLC2A12	154091	broad.mit.edu	37	6	134349555	134349555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:134349555C>T	uc003qem.1	-	2	1579	c.1408G>A	c.(1408-1410)GTT>ATT	p.V470I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	470	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GCAACATAAACAAGCAAGCTG	0.423000												
SGK1	6446	broad.mit.edu	37	6	134583282	134583282	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:134583282C>T	uc003qeo.3	-	2	672	c.74G>A	c.(73-75)CGA>CAA	p.R25Q	SGK1_uc003qep.2_Missense_Mutation_p.R25Q	NM_001143676	NP_001137148	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	Error:Variant_position_missing_in_O00141_after_alignment					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GATCCACCTTCGTACCTGCAA	0.502000												
BCLAF1	9774	broad.mit.edu	37	6	136597275	136597275	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:136597275T>C	uc003qgx.1	-	5	1641	c.1388A>G	c.(1387-1389)GAG>GGG	p.E463G	BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.E461G|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E461G	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	463					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATATCCAGTCTCTTTAAGTTT	0.338000												
BCLAF1	9774	broad.mit.edu	37	6	136599781	136599781	+	Missense_Mutation	SNP	A	A	G	rs142177067		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:136599781A>G	uc003qgx.1	-	4	491	c.238T>C	c.(238-240)TAT>CAT	p.Y80H	BCLAF1_uc003qgw.1_Missense_Mutation_p.Y80H|BCLAF1_uc003qgy.1_Missense_Mutation_p.Y78H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Y78H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	80					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTTGATAATACCCTCTACCC	0.453000												
HECA	51696	broad.mit.edu	37	6	139487628	139487628	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:139487628G>A	uc003qin.2	+	2	764	c.479G>A	c.(478-480)CGC>CAC	p.R160H		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	160					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AAGCAATGCCGCCAGAACATG	0.592000												
C6orf211	79624	broad.mit.edu	37	6	151790162	151790162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:151790162C>T	uc003qok.1	+	5	1502	c.1243C>T	c.(1243-1245)CAA>TAA	p.Q415*	C6orf211_uc011ees.1_Nonsense_Mutation_p.Q296*	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	415							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GCAGCCTGGGCAAGGGGAACA	0.483000												
ESR1	2099	broad.mit.edu	37	6	152332821	152332821	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:152332821T>C	uc003qom.3	+	7	1497	c.1127T>C	c.(1126-1128)GTC>GCC	p.V376A	ESR1_uc010kin.2_Missense_Mutation_p.V376A|ESR1_uc010kio.2_Missense_Mutation_p.V378A|ESR1_uc010kip.2_Missense_Mutation_p.V375A|ESR1_uc003qon.3_Missense_Mutation_p.V376A|ESR1_uc003qoo.3_Missense_Mutation_p.V376A|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.V45A|ESR1_uc011eex.1_Missense_Mutation_p.V157A|ESR1_uc010kit.1_Intron|ESR1_uc011eey.1_Missense_Mutation_p.V113A	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	376	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CATGATCAGGTCCACCTTCTA	0.468000												
SYNE1	23345	broad.mit.edu	37	6	152477160	152477160	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:152477160G>A	uc010kiw.2	-	132	24465	c.23863C>T	c.(23863-23865)CAC>TAC	p.H7955Y	SYNE1_uc010kiv.2_Missense_Mutation_p.H2479Y|SYNE1_uc003qos.3_Missense_Mutation_p.H2479Y|SYNE1_uc003qot.3_Missense_Mutation_p.H7884Y|SYNE1_uc003qou.3_Missense_Mutation_p.H7955Y|SYNE1_uc003qop.3_Missense_Mutation_p.H117Y|SYNE1_uc011eez.1_Missense_Mutation_p.H157Y|SYNE1_uc003qoq.3_Missense_Mutation_p.H157Y|SYNE1_uc003qor.3_Missense_Mutation_p.H855Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7955	Spectrin 28.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCACAGTCGTGCAGCAGGACT	0.522000										HNSCC(10;0.0054)		
TULP4	56995	broad.mit.edu	37	6	158914725	158914725	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:158914725G>A	uc003qrf.2	+	10	3109	c.1752G>A	c.(1750-1752)GAG>GAA	p.E584E	TULP4_uc003qrg.2_Silent_p.E584E	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	584					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCGGAGAGAGTTTCCTTTTG	0.662000												
TMEM181	57583	broad.mit.edu	37	6	159029369	159029369	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:159029369G>A	uc003qrm.3	+	9	1100	c.1089G>A	c.(1087-1089)CCG>CCA	p.P363P	TMEM181_uc010kjr.1_Silent_p.P194P	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	363	Helical; (Potential).				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)		TTCCAGATCCGTTCTTCCCCC	0.587000												
SLC22A3	6581	broad.mit.edu	37	6	160829897	160829897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:160829897G>A	uc003qti.2	+	4	828	c.801G>A	c.(799-801)TGG>TGA	p.W267*	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	267						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TCCCCAACTGGCAAGGAATCC	0.418000												
SLC22A3	6581	broad.mit.edu	37	6	160864677	160864677	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:160864677G>A	uc003qti.2	+	9	1440	c.1413G>A	c.(1411-1413)TCG>TCA	p.S471S	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	471	Helical; (Potential).					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TCGGAGTTTCGCTCTGTTCAG	0.378000												
TTLL2	83887	broad.mit.edu	37	6	167752266	167752266	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:167752266G>A	uc003qvs.1	+	2	267	c.179G>A	c.(178-180)CGC>CAC	p.R60H	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	60					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGCGAGGCCGCCCAACACCA	0.443000												
FRMD1	79981	broad.mit.edu	37	6	168457809	168457809	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:168457809C>T	uc003qwo.3	-	11	1683	c.1618G>A	c.(1618-1620)GGA>AGA	p.G540R	FRMD1_uc003qwm.3_Missense_Mutation_p.G334R|FRMD1_uc011egs.1_Missense_Mutation_p.G311R|FRMD1_uc011egt.1_Missense_Mutation_p.G475R|FRMD1_uc003qwn.3_Missense_Mutation_p.G472R	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	540						cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGAGCCTCTCCGAACAGGTCC	0.672000												
UNCX	340260	broad.mit.edu	37	7	1275553	1275553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:1275553C>T	uc011jvw.1	+	3	536	c.536C>T	c.(535-537)CCG>CTG	p.P179L		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	179					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AACTCGCACCCGACCACGTGC	0.632000												
INTS1	26173	broad.mit.edu	37	7	1518141	1518141	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:1518141C>T	uc003skn.2	-	33	4592	c.4491G>A	c.(4489-4491)GTG>GTA	p.V1497V	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1497					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCCCCCTCGCACTGTGGGAG	0.697000												
MAD1L1	8379	broad.mit.edu	37	7	1997266	1997266	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:1997266G>C	uc003slh.1	-	16	1860	c.1594C>G	c.(1594-1596)CAG>GAG	p.Q532E	MAD1L1_uc003sle.1_Missense_Mutation_p.Q261E|MAD1L1_uc003slf.1_Missense_Mutation_p.Q532E|MAD1L1_uc003slg.1_Missense_Mutation_p.Q532E|MAD1L1_uc010ksh.1_Missense_Mutation_p.Q532E|MAD1L1_uc003sli.1_Missense_Mutation_p.Q440E|MAD1L1_uc010ksi.1_Missense_Mutation_p.Q485E|MAD1L1_uc010ksj.2_Missense_Mutation_p.Q532E	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	532	Necessary for interaction with NEK2.|Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCCCTCACCTGCAGAGCTCGC	0.637000												
SDK1	221935	broad.mit.edu	37	7	4002384	4002384	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:4002384C>T	uc003smx.2	+	9	1469	c.1330C>T	c.(1330-1332)CGC>TGC	p.R444C		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	444	Ig-like C2-type 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGAGGCCTGCGCATCCAGAA	0.597000												
SP8	221833	broad.mit.edu	37	7	20825187	20825187	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:20825187C>T	uc003suy.2	-	3	436	c.195G>A	c.(193-195)TCG>TCA	p.S65S	SP8_uc003suz.2_Silent_p.S83S	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	65	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						ccgccgAGGACGAGCCGCCGT	0.517000												
HOXA4	3201	broad.mit.edu	37	7	27169037	27169037	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:27169037C>T	uc003sym.3	-	2	817	c.770G>A	c.(769-771)CGC>CAC	p.R257H	HOXA3_uc003syk.2_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	257	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTTGACCTGGCGCTCAGACAA	0.572000												
EVX1	2128	broad.mit.edu	37	7	27285699	27285699	+	Silent	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:27285699C>A	uc003szd.1	+	3	1365	c.879C>A	c.(877-879)GCC>GCA	p.A293A	EVX1_uc011jzn.1_Silent_p.A111A|EVX1_uc010kuy.1_3'UTR	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	293	Ala-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						CATCCGCCGCCTCCGCCGCCG	0.761000												
EEPD1	80820	broad.mit.edu	37	7	36194777	36194777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:36194777C>T	uc003tfa.2	+	2	1484	c.844C>T	c.(844-846)CGA>TGA	p.R282*		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	282					DNA repair		DNA binding				0						CCCCGGGGTGCGAGAGGTGGT	0.592000												
AMPH	273	broad.mit.edu	37	7	38502690	38502690	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:38502690G>A	uc003tgu.2	-	10	842	c.773C>T	c.(772-774)GCA>GTA	p.A258V	AMPH_uc003tgv.2_Missense_Mutation_p.A258V|AMPH_uc003tgt.2_Missense_Mutation_p.A11V	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	258					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TGGTGTCTTTGCAATGCGGAG	0.547000												
TNS3	64759	broad.mit.edu	37	7	47463773	47463773	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:47463773C>A	uc003tnv.2	-	10	766	c.399G>T	c.(397-399)CAG>CAT	p.Q133H	TNS3_uc003tnw.2_Missense_Mutation_p.Q133H|TNS3_uc010kyo.1_Missense_Mutation_p.Q133H	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	133	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						TGTCAAGGGCCTGGTCGGCGC	0.488000												
UPP1	7378	broad.mit.edu	37	7	48147888	48147888	+	Silent	SNP	C	C	T	rs2230763	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:48147888C>T	uc003toj.2	+	10	1396	c.867C>T	c.(865-867)AGC>AGT	p.S289S	UPP1_uc003tok.2_Silent_p.S289S|UPP1_uc003tol.2_Silent_p.S289S|UPP1_uc011kch.1_Silent_p.S82S|UPP1_uc003ton.2_Silent_p.S152S|UPP1_uc003too.2_Silent_p.S152S	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1	289					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0						ATGTGCTCAGCGAGTACCAGC	0.602000												
LANCL2	55915	broad.mit.edu	37	7	55479744	55479744	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:55479744G>A	uc003tqp.2	+	6	1548	c.970G>A	c.(970-972)GCC>ACC	p.A324T		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	324					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GTGCCACGGCGCCCCGGGGGT	0.562000												
GBAS	2631	broad.mit.edu	37	7	56062600	56062600	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:56062600C>T	uc003tre.1	+	8	639	c.631C>T	c.(631-633)CGC>TGC	p.R211C	GBAS_uc003trf.1_Missense_Mutation_p.R172C	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	211						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCGTGCAATCCGCTTCAGACA	0.458000												
POR	5447	broad.mit.edu	37	7	75608843	75608843	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:75608843C>T	uc003udy.2	+	4	394	c.312C>T	c.(310-312)GAC>GAT	p.D104D	POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	101	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TGTCCAAGGACGCCCACCGCT	0.622000												
MAGI2	9863	broad.mit.edu	37	7	77789517	77789517	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:77789517G>A	uc003ugx.2	-	16	2924	c.2670C>T	c.(2668-2670)TAC>TAT	p.Y890Y	MAGI2_uc003ugy.2_Silent_p.Y876Y|MAGI2_uc010ldx.1_Silent_p.Y483Y	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	890						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGTAGGTTGCGTAGTCACTGC	0.577000												
CACNA2D1	781	broad.mit.edu	37	7	81599268	81599268	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:81599268G>A	uc003uhr.1	-	28	2493	c.2237C>T	c.(2236-2238)ACA>ATA	p.T746I	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	758	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTCCTCATATGTCTCTGGGTT	0.373000												
KIAA1324L	222223	broad.mit.edu	37	7	86522242	86522242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:86522242G>A	uc011kha.1	-	20	3045	c.2860C>T	c.(2860-2862)CAA>TAA	p.Q954*	KIAA1324L_uc003uif.1_Nonsense_Mutation_p.Q714*|KIAA1324L_uc011kgz.1_Nonsense_Mutation_p.Q840*|KIAA1324L_uc003uie.2_Nonsense_Mutation_p.Q787*	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	954	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					ACTTACTTTTGATTCTTTTTC	0.428000												
PEX1	5189	broad.mit.edu	37	7	92118635	92118635	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:92118635C>T	uc003uly.2	-	23	3835	c.3739G>A	c.(3739-3741)GAA>AAA	p.E1247K	PEX1_uc011khr.1_Missense_Mutation_p.E1039K|PEX1_uc010ley.2_Missense_Mutation_p.E1190K|PEX1_uc011khs.1_Missense_Mutation_p.E925K	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	1247					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAGTCATCTTCACTAATGGAT	0.388000												
C7orf64	84060	broad.mit.edu	37	7	92164141	92164141	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:92164141C>T	uc003ulz.2	+	4	915	c.874C>T	c.(874-876)CGT>TGT	p.R292C	C7orf64_uc003uma.2_Missense_Mutation_p.R292C	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	292							nucleotide binding			ovary(2)	2						AGAAGATGATCGTAAACTTGG	0.428000												
STAG3	10734	broad.mit.edu	37	7	99779803	99779803	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:99779803G>A	uc003utx.1	+	3	362	c.207G>A	c.(205-207)CCG>CCA	p.P69P	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Silent_p.P69P	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	69					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACGACCACCGAAAACAACAC	0.358000												
AGFG2	3268	broad.mit.edu	37	7	100161926	100161926	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:100161926G>T	uc003uvf.2	+	11	1522	c.1386G>T	c.(1384-1386)ATG>ATT	p.M462I	AGFG2_uc010lgy.2_Nonstop_Mutation_p.*255L	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	462					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						ACCCCTTCATGGTGAGTGTGC	0.622000											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACHE	43	broad.mit.edu	37	7	100491560	100491560	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:100491560A>G	uc003uxd.2	-	1	450	c.294T>C	c.(292-294)AGT>AGC	p.S98S	ACHE_uc003uxe.2_Silent_p.S98S|ACHE_uc003uxf.2_Silent_p.S98S|ACHE_uc003uxg.2_Silent_p.S98S|ACHE_uc003uxh.2_Silent_p.S98S|ACHE_uc003uxi.2_Silent_p.S98S|ACHE_uc003uxj.1_Silent_p.S217S	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	98					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGTAGCAGACACTCTGGAAGG	0.597000												
FBXL13	222235	broad.mit.edu	37	7	102566738	102566738	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:102566738C>T	uc003vaq.2	-	10	1288	c.861G>A	c.(859-861)ACG>ACA	p.T287T	FBXL13_uc010liq.1_Silent_p.T102T|FBXL13_uc010lir.1_Silent_p.T287T|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.T287T|LRRC17_uc003vat.2_Intron|LRRC17_uc003vau.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	287	LRR 3.										0						GGAGTCGCATCGTCCTGTTGG	0.463000												
LAMB4	22798	broad.mit.edu	37	7	107706348	107706348	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:107706348A>G	uc010ljo.1	-	21	2779	c.2695T>C	c.(2695-2697)TAT>CAT	p.Y899H	LAMB4_uc003vey.2_Missense_Mutation_p.Y899H|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	899	Laminin EGF-like 8.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GGATTTCCATAGTAACCATCA	0.418000												
KCND2	3751	broad.mit.edu	37	7	119914694	119914694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:119914694C>T	uc003vjj.1	+	1	973	c.8C>T	c.(7-9)GCG>GTG	p.A3V		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	3	Interaction with KCNIP2.|Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					ATCATGGCGGCGGGGGTGGCA	0.607000												
ASB15	142685	broad.mit.edu	37	7	123267185	123267185	+	Missense_Mutation	SNP	C	C	T	rs138215101	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:123267185C>T	uc003vku.1	+	9	1011	c.719C>T	c.(718-720)GCG>GTG	p.A240V	ASB15_uc003vkv.1_Missense_Mutation_p.A240V|ASB15_uc003vkw.1_Missense_Mutation_p.A240V	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	240	ANK 4.				intracellular signal transduction					skin(2)|lung(1)	3						CTTGCTTTGGCGGATGATGGG	0.488000												
FAM71F1	84691	broad.mit.edu	37	7	128370003	128370003	+	Missense_Mutation	SNP	C	C	T	rs140953386	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:128370003C>T	uc003vno.1	+	6	954	c.901C>T	c.(901-903)CGT>TGT	p.R301C	FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	301										skin(1)	1						CTGTGACCTACGTTGGAGGGC	0.547000												
FLNC	2318	broad.mit.edu	37	7	128470903	128470903	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:128470903T>C	uc003vnz.3	+	1	421	c.212T>C	c.(211-213)ATC>ACC	p.I71T	FLNC_uc003voa.3_Missense_Mutation_p.I71T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	71	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CTCCGGCTCATCGCGCTGCTC	0.637000												
PLXNA4	91584	broad.mit.edu	37	7	132192848	132192848	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:132192848C>T	uc003vra.3	-	2	834	c.605G>A	c.(604-606)CGG>CAG	p.R202Q	PLXNA4_uc003vrc.2_Missense_Mutation_p.R202Q|PLXNA4_uc003vrb.2_Missense_Mutation_p.R202Q	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	202	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGTCAGTTTCCGGCTGGAGAT	0.532000												
DGKI	9162	broad.mit.edu	37	7	137293790	137293790	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:137293790A>G	uc003vtt.2	-	10	1090	c.1089T>C	c.(1087-1089)CCT>CCC	p.P363P	DGKI_uc003vtu.2_Silent_p.P63P	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	363					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						TTATCACAAAAGGACGACCTT	0.438000												
TBXAS1	6916	broad.mit.edu	37	7	139719830	139719830	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:139719830G>A	uc011kqv.1	+	14	1838	c.1674G>A	c.(1672-1674)CCG>CCA	p.P558P	TBXAS1_uc003vvh.2_Silent_p.P512P|TBXAS1_uc010lne.2_Silent_p.P444P|TBXAS1_uc003vvi.2_Silent_p.P512P|TBXAS1_uc003vvj.2_Missense_Mutation_p.R458H|TBXAS1_uc011kqw.1_Silent_p.P492P	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	511	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					TTTAGGTACCGCTGCAGCTAG	0.318000												
MGAM	8972	broad.mit.edu	37	7	141747660	141747660	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:141747660T>C	uc003vwy.2	+	22	2628	c.2574T>C	c.(2572-2574)AAT>AAC	p.N858N		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	858	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGGATAATGGGGAAACGA	0.463000												
TRPV5	56302	broad.mit.edu	37	7	142622641	142622641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:142622641G>A	uc003wby.1	-	8	1369	c.1105C>T	c.(1105-1107)CAG>TAG	p.Q369*	TRPV5_uc003wbz.2_Nonsense_Mutation_p.Q369*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	369	Extracellular (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					AGTTTTTGCTGGAGGATGGTG	0.517000												
CUL1	8454	broad.mit.edu	37	7	148485743	148485743	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:148485743T>C	uc010lpg.2	+	14	2100	c.1574T>C	c.(1573-1575)TTG>TCG	p.L525S	CUL1_uc003wey.2_Missense_Mutation_p.L525S|CUL1_uc003wez.2_Missense_Mutation_p.L415S|CUL1_uc003wfa.2_Missense_Mutation_p.L186S	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	525					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAAAAGCACTTGACAAACTCA	0.428000												
CUL1	8454	broad.mit.edu	37	7	148495753	148495753	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:148495753G>A	uc010lpg.2	+	20	2646	c.2120G>A	c.(2119-2121)CGC>CAC	p.R707H	CUL1_uc003wey.2_Missense_Mutation_p.R707H|CUL1_uc003wez.2_Missense_Mutation_p.R597H|CUL1_uc003wfa.2_Missense_Mutation_p.R368H	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	707					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGGAAGACCGCAAACTACTG	0.498000												
ZNF282	8427	broad.mit.edu	37	7	148921307	148921307	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:148921307C>T	uc003wfm.2	+	8	1689	c.1584C>T	c.(1582-1584)GGC>GGT	p.G528G	ZNF282_uc011kun.1_Intron|ZNF282_uc003wfo.2_Missense_Mutation_p.A205V	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	528	C2H2-type 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AGAGCTTCGGCGTGCGCAAGA	0.647000												
RBM33	155435	broad.mit.edu	37	7	155493520	155493520	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:155493520A>T	uc010lqk.1	+	6	989	c.621A>T	c.(619-621)GAA>GAT	p.E207D	RBM33_uc003wme.2_Missense_Mutation_p.E207D|RBM33_uc011kvv.1_Missense_Mutation_p.E16D	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	207	Glu-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		aatcagatgaagaagaagaag	0.299000												
ZNF596	169270	broad.mit.edu	37	8	195449	195449	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:195449G>T	uc003wot.2	+	6	890	c.602G>T	c.(601-603)GGG>GTG	p.G201V	ZNF596_uc003wou.2_Missense_Mutation_p.G100V|ZNF596_uc003wov.2_Missense_Mutation_p.G201V|ZNF596_uc003wow.2_Missense_Mutation_p.G201V	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	201	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CGTGTGTGTGGGAAAACCTTT	0.413000												
MCPH1	79648	broad.mit.edu	37	8	6299603	6299603	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:6299603A>G	uc003wqi.2	+	7	664	c.596A>G	c.(595-597)CAG>CGG	p.Q199R	MCPH1_uc003wqh.2_Missense_Mutation_p.Q199R|MCPH1_uc011kwl.1_Missense_Mutation_p.Q151R	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	199						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAAATGATTCAGCAGTCTCAT	0.373000												
XKR6	286046	broad.mit.edu	37	8	11058241	11058241	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:11058241C>G	uc003wtk.1	-	1	635	c.608G>C	c.(607-609)GGC>GCC	p.G203A		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	203						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CATGGGGGGGCCCCGGCTGGT	0.766000												
FAM167A	83648	broad.mit.edu	37	8	11301796	11301796	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:11301796C>T	uc010lry.1	-	2	745	c.125G>A	c.(124-126)CGC>CAC	p.R42H	FAM167A_uc003wtw.2_Missense_Mutation_p.R42H	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	42											0						GGAGGGCCTGCGGGTCTCCAG	0.682000												
PCM1	5108	broad.mit.edu	37	8	17824624	17824624	+	Silent	SNP	G	G	A	rs34135535		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:17824624G>A	uc003wyi.3	+	21	3779	c.3357G>A	c.(3355-3357)CAG>CAA	p.Q1119Q	PCM1_uc011kyh.1_Silent_p.Q1119Q|PCM1_uc003wyj.3_Silent_p.Q1120Q	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1119					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		TTCCAACACAGCCTGTAAATC	0.393000			T	RET|JAK2	papillary thyroid|CML|MPD							
EPB49	2039	broad.mit.edu	37	8	21938939	21938939	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:21938939C>T	uc011kyt.1	+	15	1412	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	EPB49_uc010ltl.2_Missense_Mutation_p.R373W|EPB49_uc010ltn.2_Missense_Mutation_p.R348W|EPB49_uc011kyu.1_Missense_Mutation_p.R395W|EPB49_uc011kyv.1_Missense_Mutation_p.R395W|EPB49_uc010ltq.2_Missense_Mutation_p.R373W	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	395	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		TCTGTGGAAGCGGAATGAGCT	0.597000												
BMP1	649	broad.mit.edu	37	8	22054887	22054887	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:22054887C>T	uc003xbg.2	+	15	2305	c.2061C>T	c.(2059-2061)TCC>TCT	p.S687S	BMP1_uc003xba.2_Silent_p.S687S|BMP1_uc003xbb.2_Silent_p.S687S|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.S436S|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.S436S|BMP1_uc011kzc.1_Silent_p.S436S|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	687	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGTTCAAGTCCGACAACACCG	0.567000												
NEFM	4741	broad.mit.edu	37	8	24771385	24771385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:24771385G>A	uc003xed.3	+	1	112	c.79G>A	c.(79-81)GTC>ATC	p.V27I	NEFM_uc011lac.1_Missense_Mutation_p.V27I|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	27	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTTCAGCCGCGTCAGCGGCTC	0.692000												
STMN4	81551	broad.mit.edu	37	8	27097502	27097502	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:27097502G>A	uc003xfk.2	-	5	610	c.496C>T	c.(496-498)CGG>TGG	p.R166W	STMN4_uc003xfj.2_Missense_Mutation_p.R193W|STMN4_uc011lai.1_Missense_Mutation_p.R193W|STMN4_uc011laj.1_Missense_Mutation_p.R157W|STMN4_uc011lak.1_Missense_Mutation_p.R193W|STMN4_uc010luo.2_Missense_Mutation_p.R166W			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	166	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TCTTGCAGCCGTTCCAACATG	0.532000												
CHRNA2	1135	broad.mit.edu	37	8	27320682	27320682	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:27320682T>C	uc010lur.2	-	6	1887	c.1278A>G	c.(1276-1278)GCA>GCG	p.A426A	CHRNA2_uc011lal.1_Silent_p.A411A|CHRNA2_uc010lus.2_Silent_p.A228A	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	426	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CCACATGACCTGCACATGCCC	0.647000												
KIF13B	23303	broad.mit.edu	37	8	28967542	28967542	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:28967542C>T	uc003xhh.3	-	33	4035	c.3976G>A	c.(3976-3978)GCC>ACC	p.A1326T	uc003xhi.1_5'Flank	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1326					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCAACATTGGCTGCCATTCTT	0.428000												
GTF2E2	2961	broad.mit.edu	37	8	30511088	30511088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:30511088C>A	uc003xig.2	-	2	281	c.28G>T	c.(28-30)GAG>TAG	p.E10*		NM_002095	NP_002086	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2,	10					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTGAACAGCTCCCTTTCTCTC	0.378000												
PURG	29942	broad.mit.edu	37	8	30889510	30889510	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:30889510C>T	uc003xin.2	-	1	808	c.789G>A	c.(787-789)GAG>GAA	p.E263E	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.E263E	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	263	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAGAAGTCCCCTCTGGGAGTT	0.453000												
NRG1	3084	broad.mit.edu	37	8	32613965	32613965	+	Missense_Mutation	SNP	G	G	A	rs145033301		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:32613965G>A	uc003xiv.2	+	9	1365	c.848G>A	c.(847-849)CGG>CAG	p.R283Q	NRG1_uc011lbf.1_Missense_Mutation_p.R280Q|NRG1_uc010lvo.2_Missense_Mutation_p.R280Q|NRG1_uc003xiu.2_Missense_Mutation_p.R288Q|NRG1_uc003xiw.2_Missense_Mutation_p.R280Q|NRG1_uc003xit.2_Missense_Mutation_p.R283Q|NRG1_uc010lvr.2_Missense_Mutation_p.R25Q|NRG1_uc010lvs.2_Missense_Mutation_p.R25Q|NRG1_uc010lvp.2_Missense_Mutation_p.R237Q|NRG1_uc010lvq.2_Missense_Mutation_p.R220Q|NRG1_uc011lbg.1_Missense_Mutation_p.R129Q|NRG1_uc011lbh.1_Missense_Mutation_p.R126Q|NRG1_uc003xja.2_Missense_Mutation_p.R94Q	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	283	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CAGAGCCTTCGGTCTGAACGA	0.453000												
UNC5D	137970	broad.mit.edu	37	8	35425752	35425752	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:35425752C>T	uc003xjr.1	+	3	787	c.459C>T	c.(457-459)CGC>CGT	p.R153R	UNC5D_uc003xjs.1_Silent_p.R148R	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	153	Extracellular (Potential).|Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTCTGTGCGCATAGCCTGTA	0.522000												
DDHD2	23259	broad.mit.edu	37	8	38111155	38111155	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38111155G>A	uc003xlb.2	+	16	2350	c.1973G>A	c.(1972-1974)CGC>CAC	p.R658H	DDHD2_uc003xlc.2_Missense_Mutation_p.R658H|DDHD2_uc003xld.2_Missense_Mutation_p.R277H	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	658	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GGAGGCCAACGCATTGACTAT	0.388000												
PPAPDC1B	84513	broad.mit.edu	37	8	38123659	38123659	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38123659C>A	uc003xlf.3	-	6	655	c.634G>T	c.(634-636)GAT>TAT	p.D212Y	PPAPDC1B_uc003xle.3_Missense_Mutation_p.D171Y|PPAPDC1B_uc003xlg.3_Nonsense_Mutation_p.G212*	NM_001102559	NP_001096029	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain	212	Helical; (Potential).				phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			CTTTGCTTACCTTGCCAGTGA	0.323000												
HTRA4	203100	broad.mit.edu	37	8	38835654	38835654	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38835654T>C	uc003xmj.2	+	4	1069	c.954T>C	c.(952-954)GAT>GAC	p.D318D		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	318	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TCCAGATTGATGCCACAATTA	0.299000												
TM2D2	83877	broad.mit.edu	37	8	38853837	38853837	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38853837T>G	uc003xmk.2	-	1	205	c.122A>C	c.(121-123)GAG>GCG	p.E41A	ADAM9_uc011lcf.1_5'Flank|ADAM9_uc003xmr.2_5'Flank|ADAM9_uc011lcg.1_5'Flank|ADAM9_uc010lwr.2_5'Flank|TM2D2_uc003xml.2_5'UTR|TM2D2_uc003xmm.2_Intron|TM2D2_uc003xmn.2_Intron|ADAM9_uc003xmo.1_5'Flank|ADAM9_uc003xmp.2_5'Flank	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	41						integral to membrane					0		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GAGCTCAGGCTCAGCGGTCGC	0.622000												
ANK1	286	broad.mit.edu	37	8	41551521	41551521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:41551521G>A	uc003xok.2	-	29	3511	c.3427C>T	c.(3427-3429)CGC>TGC	p.R1143C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R459C|ANK1_uc003xoi.2_Missense_Mutation_p.R1143C|ANK1_uc003xoj.2_Missense_Mutation_p.R1143C|ANK1_uc003xol.2_Missense_Mutation_p.R1143C|ANK1_uc003xom.2_Missense_Mutation_p.R1184C	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1143					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCAATGGGGCGGTGGAACTTC	0.657000												
ANK1	286	broad.mit.edu	37	8	41583411	41583411	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:41583411G>A	uc003xok.2	-	6	564	c.480C>T	c.(478-480)GTC>GTT	p.V160V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.V160V|ANK1_uc003xoj.2_Silent_p.V160V|ANK1_uc003xol.2_Silent_p.V160V|ANK1_uc003xom.2_Silent_p.V193V	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	160	ANK 4.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGAGGTGCGCGACGACGTTCT	0.667000												
PXDNL	137902	broad.mit.edu	37	8	52321634	52321634	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:52321634G>A	uc003xqu.3	-	17	2651	c.2550C>T	c.(2548-2550)GCC>GCT	p.A850A	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	850					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCGGGGGTCGGCGTGCCGGG	0.697000												
PXDNL	137902	broad.mit.edu	37	8	52325815	52325815	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:52325815A>G	uc003xqu.3	-	15	1900	c.1799T>C	c.(1798-1800)ATA>ACA	p.I600T		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	600					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTACCCTGTATAGCTTTGAA	0.343000												
NPBWR1	2831	broad.mit.edu	37	8	53853444	53853444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:53853444C>T	uc011ldu.1	+	1	977	c.977C>T	c.(976-978)GCG>GTG	p.A326V		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	326	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				ACTTGCCGCGCGGCAGCCTGA	0.692000												
MOS	4342	broad.mit.edu	37	8	57025712	57025712	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:57025712G>A	uc011leb.1	-	1	830	c.830C>T	c.(829-831)GCG>GTG	p.A277V		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	277	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CGAATACGGCGCCTGCTTGGT	0.637000												
CHD7	55636	broad.mit.edu	37	8	61769043	61769043	+	Silent	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:61769043A>C	uc003xue.2	+	34	7681	c.7204A>C	c.(7204-7206)AGG>CGG	p.R2402R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2402	Potential.|Poly-Arg.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCAGCGGAGGAGGAGGAGGAG	0.507000												
PRDM14	63978	broad.mit.edu	37	8	70982108	70982108	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:70982108C>T	uc003xym.2	-	2	190	c.-12G>A	c.(-14--10)GCGTG>GCATG			NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CGGGACCGCACGCTCGGCGGC	0.726000												
EYA1	2138	broad.mit.edu	37	8	72211325	72211325	+	Silent	SNP	C	C	T	rs146648560		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:72211325C>T	uc003xys.3	-	8	1070	c.783G>A	c.(781-783)CCG>CCA	p.P261P	EYA1_uc003xyr.3_Silent_p.P256P|EYA1_uc003xyt.3_Silent_p.P228P|EYA1_uc010lzf.2_Silent_p.P188P|EYA1_uc003xyu.2_Silent_p.P261P|EYA1_uc011lfe.1_Silent_p.P255P|EYA1_uc003xyv.2_Silent_p.P139P	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	261					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCCAGATGGCGGTTCTTGAA	0.448000												
MSC	9242	broad.mit.edu	37	8	72756093	72756093	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:72756093C>T	uc003xyx.1	-	1	639	c.321G>A	c.(319-321)TCG>TCA	p.S107S	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	107					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGTTCCGCTGCGACTGCTTGC	0.726000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNB2	9312	broad.mit.edu	37	8	73480280	73480280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:73480280G>A	uc003xzb.2	+	2	899	c.311G>A	c.(310-312)CGG>CAG	p.R104Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	104	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AATTTCTACCGGACCGGGAAA	0.463000												
KCNB2	9312	broad.mit.edu	37	8	73848408	73848408	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:73848408C>T	uc003xzb.2	+	3	1406	c.818C>T	c.(817-819)GCC>GTC	p.A273V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	273	Helical; Name=Segment S3; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GATTTGCTGGCCATCTTGCCG	0.458000												
ZFHX4	79776	broad.mit.edu	37	8	77766976	77766976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:77766976C>T	uc003yav.2	+	10	8071	c.7684C>T	c.(7684-7686)CGC>TGC	p.R2562C	ZFHX4_uc003yau.1_Missense_Mutation_p.R2607C|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2562C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2562	Homeobox 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGAGATAAACGCTTGAGAAC	0.423000										HNSCC(33;0.089)		
FABP9	646480	broad.mit.edu	37	8	82371419	82371419	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:82371419G>A	uc011lfo.1	-	2	227	c.227C>T	c.(226-228)GCA>GTA	p.A76V		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	76							lipid binding|transporter activity				0			Epithelial(68;0.186)			CCGGTTGTCTGCTGTAGTTTC	0.383000												
SLC7A13	157724	broad.mit.edu	37	8	87242434	87242434	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:87242434T>C	uc003ydq.1	-	1	171	c.73A>G	c.(73-75)AAT>GAT	p.N25D	SLC7A13_uc003ydr.1_Missense_Mutation_p.N25D	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	25	Helical; Name=1; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						CCAATGATATTAATAAGCAAA	0.423000												
OTUD6B	51633	broad.mit.edu	37	8	92083383	92083383	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:92083383A>G	uc003yeu.3	+	2	289	c.190A>G	c.(190-192)AAG>GAG	p.K64E	uc003yet.2_5'Flank|OTUD6B_uc011lgh.1_5'UTR	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	34										ovary(2)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TCAGGGCATGAAGAATGCTGT	0.423000												
SLC25A32	81034	broad.mit.edu	37	8	104414250	104414250	+	Silent	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:104414250A>G	uc003yll.2	-	5	888	c.585T>C	c.(583-585)CAT>CAC	p.H195H	SLC25A32_uc011lhr.1_Silent_p.H63H	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	195	Helical; Name=4; (Potential).|Solcar 2.				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GAAGGGCACCATGCGATGTTC	0.348000												
DPYS	1807	broad.mit.edu	37	8	105456608	105456608	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:105456608G>A	uc003yly.3	-	4	790	c.661C>T	c.(661-663)CGC>TGC	p.R221C		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	221					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTCTGGGCGGCACAGCTCG	0.542000												
OXR1	55074	broad.mit.edu	37	8	107695429	107695429	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:107695429T>C	uc011lht.1	+	4	408	c.309T>C	c.(307-309)GTT>GTC	p.V103V	OXR1_uc003ymf.2_Silent_p.V102V|OXR1_uc011lhu.1_Silent_p.V95V|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Silent_p.V35V|OXR1_uc003ymi.1_Silent_p.V14V	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	103	LysM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTAAACAGGTTGAATCAAGGG	0.294000												
ZHX2	22882	broad.mit.edu	37	8	123965245	123965245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:123965245G>A	uc003ypk.1	+	3	2062	c.1495G>A	c.(1495-1497)GTC>ATC	p.V499I		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	499	Homeobox 2.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGGGGCATCGTCCACATCAC	0.587000												
FAM91A1	157769	broad.mit.edu	37	8	124812010	124812010	+	Splice_Site	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:124812010A>G	uc003yqv.2	+	18	1757	c.1696_splice	c.e18-2	p.S566_splice	FAM91A1_uc011lik.1_Splice_Site_p.S566_splice|FAM91A1_uc011lil.1_Splice_Site_p.S324_splice	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769											ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCTTTTCAATAGAGTTATGAT	0.343000												
FER1L6	654463	broad.mit.edu	37	8	125015462	125015462	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:125015462T>C	uc003yqw.2	+	13	1781	c.1575T>C	c.(1573-1575)GCT>GCC	p.A525A	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	525	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAAGTCAGCTGAATCAGCTG	0.527000												
KCNQ3	3786	broad.mit.edu	37	8	133196585	133196585	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:133196585G>A	uc003ytj.2	-	3	732	c.507C>T	c.(505-507)GCC>GCT	p.A169A	KCNQ3_uc010mdt.2_Silent_p.A169A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	169	Helical; Name=Segment S2; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAGCAAACTCGGCTCCAAAGA	0.512000												
WISP1	8840	broad.mit.edu	37	8	134225170	134225170	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:134225170C>T	uc003yub.2	+	2	209	c.133C>T	c.(133-135)CGC>TGC	p.R45C	WISP1_uc003yuc.2_Missense_Mutation_p.R45C|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Missense_Mutation_p.R45C|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_5'Flank	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	45	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CACCTCCTCACGCCCCCAATT	0.647000												
WISP1	8840	broad.mit.edu	37	8	134239807	134239807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:134239807G>A	uc003yub.2	+	5	1034	c.958G>A	c.(958-960)GTG>ATG	p.V320M	WISP1_uc003yuc.2_Missense_Mutation_p.V233M|WISP1_uc010meb.2_Missense_Mutation_p.V148M|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Missense_Mutation_p.V75M|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	320	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GACTATCGACGTGTCCTTCCA	0.512000												
COL22A1	169044	broad.mit.edu	37	8	139833454	139833454	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:139833454G>A	uc003yvd.2	-	7	1617	c.1170C>T	c.(1168-1170)ATC>ATT	p.I390I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	390	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGTTCCTCGATGGGTAGTG	0.577000										HNSCC(7;0.00092)		
KCNK9	51305	broad.mit.edu	37	8	140714992	140714992	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:140714992C>T	uc003yvf.1	-	1	308	c.244G>A	c.(244-246)GGC>AGC	p.G82S	KCNK9_uc003yvg.1_Missense_Mutation_p.G82S	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	82	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TAGAAGGAGCCGGCGAATTTC	0.662000												
BAI1	575	broad.mit.edu	37	8	143570413	143570413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:143570413G>A	uc003ywm.2	+	14	2653	c.2470G>A	c.(2470-2472)GTG>ATG	p.V824M		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	824	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGAAGCATCCGTGTTTGTGGT	0.672000												
SCRIB	23513	broad.mit.edu	37	8	144887368	144887368	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:144887368C>T	uc003yzp.1	-	19	2591	c.2584G>A	c.(2584-2586)GTG>ATG	p.V862M	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.V862M	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	862	PDZ 2.|Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGCAGGCCACGTGGCGCTGA	0.731000												
EPPK1	83481	broad.mit.edu	37	8	144946750	144946750	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:144946750C>T	uc003zaa.1	-	1	685	c.672G>A	c.(670-672)TCG>TCA	p.S224S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	224	Plectin 5.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCTAGCCCCGAGCCGGGGG	0.662000												
PLEC	5339	broad.mit.edu	37	8	144990725	144990725	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:144990725C>T	uc003zaf.1	-	32	13845	c.13675G>A	c.(13675-13677)GCA>ACA	p.A4559T	PLEC_uc003zab.1_Missense_Mutation_p.A4422T|PLEC_uc003zac.1_Missense_Mutation_p.A4426T|PLEC_uc003zad.2_Missense_Mutation_p.A4422T|PLEC_uc003zae.1_Missense_Mutation_p.A4390T|PLEC_uc003zag.1_Missense_Mutation_p.A4400T|PLEC_uc003zah.2_Missense_Mutation_p.A4408T|PLEC_uc003zaj.2_Missense_Mutation_p.A4449T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4559	Plectin 32.|Globular 2.				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						AGCTTCTGTGCGGTGCGGGCG	0.672000												
PLEC	5339	broad.mit.edu	37	8	144991258	144991258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:144991258C>T	uc003zaf.1	-	32	13312	c.13142G>A	c.(13141-13143)CGC>CAC	p.R4381H	PLEC_uc003zab.1_Missense_Mutation_p.R4244H|PLEC_uc003zac.1_Missense_Mutation_p.R4248H|PLEC_uc003zad.2_Missense_Mutation_p.R4244H|PLEC_uc003zae.1_Missense_Mutation_p.R4212H|PLEC_uc003zag.1_Missense_Mutation_p.R4222H|PLEC_uc003zah.2_Missense_Mutation_p.R4230H|PLEC_uc003zaj.2_Missense_Mutation_p.R4271H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4381	Globular 2.				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						GGAACGGGAGCGGAAACCACC	0.667000												
PLEC	5339	broad.mit.edu	37	8	145003355	145003355	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145003355G>T	uc003zaf.1	-	25	3757	c.3587C>A	c.(3586-3588)GCG>GAG	p.A1196E	PLEC_uc003zab.1_Missense_Mutation_p.A1059E|PLEC_uc003zac.1_Missense_Mutation_p.A1063E|PLEC_uc003zad.2_Missense_Mutation_p.A1059E|PLEC_uc003zae.1_Missense_Mutation_p.A1027E|PLEC_uc003zag.1_Missense_Mutation_p.A1037E|PLEC_uc003zah.2_Missense_Mutation_p.A1045E|PLEC_uc003zaj.2_Missense_Mutation_p.A1086E	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1196	Globular 1.				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						CGTGGGGGCCGCAGGCGATGG	0.682000												
PLEC	5339	broad.mit.edu	37	8	145011331	145011331	+	Splice_Site	SNP	A	A	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145011331A>T	uc003zaf.1	-	4	923	c.753_splice	c.e4+1	p.Q251_splice	PLEC_uc003zab.1_Splice_Site_p.Q114_splice|PLEC_uc003zac.1_Splice_Site_p.Q118_splice|PLEC_uc003zad.2_Splice_Site_p.Q114_splice|PLEC_uc003zae.1_Splice_Site_p.Q82_splice|PLEC_uc003zag.1_Splice_Site_p.Q92_splice|PLEC_uc003zah.2_Splice_Site_p.Q100_splice|PLEC_uc003zaj.2_Splice_Site_p.Q141_splice	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1						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						GGGCAGCCTTACCTGGCGGTG	0.682000												
GPAA1	8733	broad.mit.edu	37	8	145139999	145139999	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145139999C>T	uc003zax.2	+	9	1328	c.1218C>T	c.(1216-1218)CCC>CCT	p.P406P		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	406	Cytoplasmic (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGAGGAGCCCGGGGGTGCCC	0.597000												
CYC1	1537	broad.mit.edu	37	8	145151105	145151105	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145151105G>A	uc003zaz.3	+	3	448	c.405G>A	c.(403-405)CTG>CTA	p.L135L	CYC1_uc003zay.2_Silent_p.L76L	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	135	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCGCCACCTGGTGGGCGTGT	0.627000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MAF1	84232	broad.mit.edu	37	8	145161313	145161313	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145161313A>C	uc003zbc.1	+	5	947	c.446A>C	c.(445-447)CAG>CCG	p.Q149P	SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	MAF1 protein	149					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus					0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGAAACCACAGCTGTGGAAC	0.587000												
DGAT1	8694	broad.mit.edu	37	8	145541626	145541626	+	Missense_Mutation	SNP	C	C	T	rs139792712		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145541626C>T	uc003zbv.3	-	9	1074	c.806G>A	c.(805-807)CGC>CAC	p.R269H	DGAT1_uc010mfv.2_Intron	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	269	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGGGGAGAGCGGGGAAAGTT	0.617000												
KCNV2	169522	broad.mit.edu	37	9	2718877	2718877	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:2718877C>T	uc003zho.1	+	1	1352	c.1138C>T	c.(1138-1140)CGC>TGC	p.R380C		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	380	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		GCGCGTCATGCGCCTCATGCG	0.667000												
JAK2	3717	broad.mit.edu	37	9	5064999	5064999	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:5064999C>T	uc010mhm.2	+	8	1286	c.1173C>T	c.(1171-1173)GCC>GCT	p.A391A	JAK2_uc003ziw.2_Silent_p.A391A	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	391					actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CACCTCCAGCCGTGCTTGAAA	0.343000		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
KIAA1432	57589	broad.mit.edu	37	9	5765510	5765510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:5765510C>T	uc003zji.2	+	19	2794	c.2701C>T	c.(2701-2703)CGA>TGA	p.R901*	KIAA1432_uc003zjh.2_Nonsense_Mutation_p.R901*|KIAA1432_uc003zjl.3_Nonsense_Mutation_p.R864*|KIAA1432_uc003zjj.1_Nonsense_Mutation_p.R443*|ERMP1_uc011lme.1_RNA	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	980						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ACACATGATTCGATTTCTTAA	0.458000												
MPDZ	8777	broad.mit.edu	37	9	13121774	13121774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:13121774G>A	uc010mia.1	-	37	5252	c.5195C>T	c.(5194-5196)CCG>CTG	p.P1732L	MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Missense_Mutation_p.P266L|MPDZ_uc010mib.2_Missense_Mutation_p.P437L|MPDZ_uc010mhx.2_Missense_Mutation_p.P554L|MPDZ_uc011lmm.1_Missense_Mutation_p.P591L|MPDZ_uc003zkz.3_Missense_Mutation_p.P425L|MPDZ_uc010mhy.2_Missense_Mutation_p.P1732L|MPDZ_uc010mhz.2_Missense_Mutation_p.P1699L|MPDZ_uc011lmn.1_Missense_Mutation_p.P1699L|MPDZ_uc003zlb.3_Missense_Mutation_p.P1732L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1732	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GCCTTTTCCCGGCTTCTTCTG	0.473000												
C9orf93	203238	broad.mit.edu	37	9	15594156	15594156	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:15594156C>A	uc003zmd.2	+	6	976	c.661C>A	c.(661-663)CAA>AAA	p.Q221K	C9orf93_uc010mih.1_Missense_Mutation_p.Q221K|C9orf93_uc003zme.2_Missense_Mutation_p.Q128K|C9orf93_uc011lmu.1_Missense_Mutation_p.Q221K|C9orf93_uc003zmc.2_Missense_Mutation_p.Q221K	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	221	Potential.|Glu-rich.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AAGAGAATTACAATTTATAGT	0.323000												
CNTLN	54875	broad.mit.edu	37	9	17135197	17135197	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:17135197C>T	uc003zmz.2	+	1	160	c.134C>T	c.(133-135)GCG>GTG	p.A45V	CNTLN_uc003zmx.3_Missense_Mutation_p.A45V|CNTLN_uc003zmy.2_Missense_Mutation_p.A45V|CNTLN_uc003zmw.1_Missense_Mutation_p.A45V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	45						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GCCGGCGCAGCGCGGGAGGTG	0.697000												
TLN1	7094	broad.mit.edu	37	9	35711378	35711378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:35711378C>T	uc003zxt.2	-	30	4247	c.3893G>A	c.(3892-3894)CGA>CAA	p.R1298Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1298					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AACTTGGGCTCGGTCCTCCTG	0.512000												
ZBTB5	9925	broad.mit.edu	37	9	37440550	37440550	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:37440550A>G	uc003zzx.2	-	2	2199	c.1999T>C	c.(1999-2001)TGG>CGG	p.W667R		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTGCTCTGCCAGCGCAGGCAG	0.493000												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478000												
SMC5	23137	broad.mit.edu	37	9	72967216	72967216	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:72967216G>A	uc004ahr.2	+	25	3392	c.3275G>A	c.(3274-3276)CGG>CAG	p.R1092Q	SMC5_uc011lry.1_Missense_Mutation_p.R237Q	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	1092					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CAAAGGCGGCGGCGCCGTATT	0.368000												
TRPM3	80036	broad.mit.edu	37	9	73233871	73233871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:73233871C>T	uc004aid.2	-	16	2478	c.2234G>A	c.(2233-2235)CGC>CAC	p.R745H	TRPM3_uc004ahu.2_Missense_Mutation_p.R575H|TRPM3_uc004ahv.2_Missense_Mutation_p.R547H|TRPM3_uc004ahw.2_Missense_Mutation_p.R617H|TRPM3_uc004ahx.2_Missense_Mutation_p.R604H|TRPM3_uc004ahy.2_Missense_Mutation_p.R607H|TRPM3_uc004ahz.2_Missense_Mutation_p.R594H|TRPM3_uc004aia.2_Missense_Mutation_p.R592H|TRPM3_uc004aib.2_Missense_Mutation_p.R582H|TRPM3_uc004aic.2_Missense_Mutation_p.R745H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	770	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GATGAAGTCGCGGTGTTTGGC	0.612000												
GCNT1	2650	broad.mit.edu	37	9	79118407	79118407	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:79118407G>A	uc010mpf.2	+	3	1451	c.1110G>A	c.(1108-1110)CCG>CCA	p.P370P	GCNT1_uc010mpg.2_Silent_p.P370P|GCNT1_uc010mph.2_Silent_p.P370P|GCNT1_uc004akf.3_Silent_p.P370P|GCNT1_uc010mpi.2_Silent_p.P370P|GCNT1_uc004akh.3_Silent_p.P370P	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	370	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0						CTCCCTACCCGCCCTGCGATG	0.517000												
PRUNE2	158471	broad.mit.edu	37	9	79318668	79318668	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:79318668T>C	uc010mpk.2	-	9	7985	c.7861A>G	c.(7861-7863)AGA>GGA	p.R2621G	PRUNE2_uc004akj.3_Missense_Mutation_p.R74G|PRUNE2_uc010mpl.1_Missense_Mutation_p.R74G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2621					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AAAGATGATCTCGTATCGCTT	0.488000												
GNA14	9630	broad.mit.edu	37	9	80046280	80046280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:80046280C>T	uc004aku.2	-	4	1073	c.550G>A	c.(550-552)GGC>AGC	p.G184S		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	184					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						TCAATGATGCCGGTGGTGGGC	0.493000												
C9orf170	401535	broad.mit.edu	37	9	89771628	89771628	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:89771628C>T	uc004apa.1	+	2	396	c.309C>T	c.(307-309)AAC>AAT	p.N103N		NM_001001709	NP_001001709	A2RU37	CI170_HUMAN	hypothetical protein LOC401535	103											0						ACCATGAAAACAGCCAAAATA	0.234000												
CDK20	23552	broad.mit.edu	37	9	90585538	90585538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:90585538G>A	uc004apr.2	-	5	814	c.508C>T	c.(508-510)CGA>TGA	p.R170*	CDK20_uc004aps.2_Intron|CDK20_uc004apt.2_Intron|CDK20_uc004apu.2_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	170	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TCGGGGGCTCGGTACCACCTG	0.612000												
SEMA4D	10507	broad.mit.edu	37	9	92008486	92008486	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:92008486C>T	uc004aqo.1	-	9	1071	c.499G>A	c.(499-501)GTC>ATC	p.V167I	SEMA4D_uc011ltm.1_Missense_Mutation_p.V167I|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.V165I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	167	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CCAACCATGACGGATGTGTAG	0.428000												
SYK	6850	broad.mit.edu	37	9	93607755	93607755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:93607755C>T	uc004aqz.2	+	3	662	c.457C>T	c.(457-459)CAG>TAG	p.Q153*	SYK_uc004aqy.2_Nonsense_Mutation_p.Q153*|SYK_uc004ara.2_Nonsense_Mutation_p.Q153*|SYK_uc004arb.2_Nonsense_Mutation_p.Q153*|SYK_uc004arc.2_Nonsense_Mutation_p.Q153*|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	153					cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						TCAGAAGCCTCAGCTGGAGAA	0.478000			T	ETV6|ITK	MDS|peripheral T-cell lymphoma							
BICD2	23299	broad.mit.edu	37	9	95482663	95482663	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:95482663C>T	uc004aso.1	-	4	1038	c.981G>A	c.(979-981)CCG>CCA	p.P327P	BICD2_uc004asp.1_Silent_p.P327P	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	327					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TGGGGGAGGGCGGTGCGAGGC	0.632000												
FGD3	89846	broad.mit.edu	37	9	95765277	95765277	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:95765277G>A	uc004asw.2	+	4	1152	c.524G>A	c.(523-525)CGG>CAG	p.R175Q	FGD3_uc004asx.2_Missense_Mutation_p.R175Q|FGD3_uc004asz.2_Missense_Mutation_p.R175Q|FGD3_uc004ata.2_5'UTR	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	175	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TATGTGAAGCGGCTGCACCTG	0.557000												
SUSD3	203328	broad.mit.edu	37	9	95841807	95841807	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:95841807C>T	uc004atb.2	+	4	516	c.480C>T	c.(478-480)GCC>GCT	p.A160A	SUSD3_uc004atc.2_Silent_p.A147A	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3	160	Cytoplasmic (Potential).					integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6						CGGTGCAGGCCGCATACCTTG	0.612000												
PHF2	5253	broad.mit.edu	37	9	96439875	96439875	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:96439875C>T	uc004aub.2	+	22	3355	c.3208C>T	c.(3208-3210)CGT>TGT	p.R1070C	PHF2_uc004auc.2_Intron	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	1070					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCTAGGAAAACGTACGAAAAA	0.537000												
OR13C5	138799	broad.mit.edu	37	9	107360981	107360981	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:107360981G>T	uc011lvp.1	-	1	714	c.714C>A	c.(712-714)TCC>TCA	p.S238S		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AGCAGGTAGAGGAAGGTTTGC	0.413000												
ZNF462	58499	broad.mit.edu	37	9	109690810	109690810	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:109690810G>A	uc004bcz.2	+	3	4906	c.4617G>A	c.(4615-4617)CCG>CCA	p.P1539P	ZNF462_uc010mto.2_Silent_p.P1387P|ZNF462_uc004bda.2_Silent_p.P1387P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1539					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGCGACACCCGTCCATCAAGG	0.542000												
ACTL7A	10881	broad.mit.edu	37	9	111625857	111625857	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:111625857C>T	uc004bdj.1	+	1	1255	c.1255C>T	c.(1255-1257)CGC>TGC	p.R419C		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	419						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						GTGGGTCCACCGCTTTGAGTA	0.582000												
SNX30	401548	broad.mit.edu	37	9	115600849	115600849	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:115600849G>A	uc004bgj.3	+	6	1034	c.886G>A	c.(886-888)GAA>AAA	p.E296K	SNX30_uc004bgi.3_5'UTR	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	296					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						TGAGCTGGCTGAACCCCTGGA	0.512000												
ATP6V1G1	9550	broad.mit.edu	37	9	117359933	117359933	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:117359933G>A	uc004bjc.2	+	3	392	c.267G>A	c.(265-267)CGG>CGA	p.R89R		NM_004888	NP_004879	O75348	VATG1_HUMAN	vacuolar H+ ATPase G1	89					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances				0						CATACTTCCGGCAGAACAGGG	0.502000												
ASTN2	23245	broad.mit.edu	37	9	119903693	119903693	+	Silent	SNP	G	G	A	rs115011238	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:119903693G>A	uc004bjs.1	-	4	1181	c.1080C>T	c.(1078-1080)CGC>CGT	p.R360R	ASTN2_uc004bjr.1_Silent_p.R360R|ASTN2_uc004bjt.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	360	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GCGTGTTAGCGCGGAAACTCT	0.587000												
ASTN2	23245	broad.mit.edu	37	9	120176910	120176910	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:120176910C>T	uc004bjs.1	-	1	408	c.307G>A	c.(307-309)GCG>ACG	p.A103T	ASTN2_uc004bjr.1_Missense_Mutation_p.A103T|ASTN2_uc004bjt.1_Missense_Mutation_p.A103T	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	103	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCCGGGGACGCGGCGGCGGCG	0.552000												
TRAF1	7185	broad.mit.edu	37	9	123675736	123675736	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:123675736C>A	uc004bku.1	-	5	1147	c.575G>T	c.(574-576)GGG>GTG	p.G192V	TRAF1_uc011lyg.1_Missense_Mutation_p.G70V|TRAF1_uc010mvl.1_Missense_Mutation_p.G192V	NM_005658	NP_005649	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	192					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			skin(2)|ovary(1)	3						ACGCAGCTTCCCCTCCAGCTC	0.612000												
GSN	2934	broad.mit.edu	37	9	124064376	124064376	+	Missense_Mutation	SNP	G	G	A	rs148748121	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:124064376G>A	uc004blf.1	+	2	341	c.280G>A	c.(280-282)GCC>ACC	p.A94T	GSN_uc004bld.1_Missense_Mutation_p.A43T|GSN_uc010mvq.1_Missense_Mutation_p.A54T|GSN_uc010mvr.1_Missense_Mutation_p.A54T|GSN_uc010mvu.1_Missense_Mutation_p.A43T|GSN_uc010mvt.1_Missense_Mutation_p.A43T|GSN_uc010mvs.1_Missense_Mutation_p.A43T|GSN_uc004ble.1_Missense_Mutation_p.A43T|GSN_uc010mvv.1_Missense_Mutation_p.A43T|GSN_uc011lyh.1_Missense_Mutation_p.A60T|GSN_uc011lyi.1_Missense_Mutation_p.A43T|GSN_uc011lyj.1_Missense_Mutation_p.A67T	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	94	Actin-severing (Potential).|Gelsolin-like 1.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CACGGGCGACGCCTACGTCAT	0.607000												
GSN	2934	broad.mit.edu	37	9	124079433	124079433	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:124079433C>A	uc004blf.1	+	7	1037	c.976C>A	c.(976-978)CTG>ATG	p.L326M	GSN_uc004bld.1_Missense_Mutation_p.L275M|GSN_uc010mvq.1_Missense_Mutation_p.L286M|GSN_uc010mvr.1_Missense_Mutation_p.L286M|GSN_uc010mvu.1_Missense_Mutation_p.L275M|GSN_uc010mvt.1_Missense_Mutation_p.L275M|GSN_uc010mvs.1_Missense_Mutation_p.L275M|GSN_uc004ble.1_Missense_Mutation_p.L275M|GSN_uc010mvv.1_Missense_Mutation_p.L275M|GSN_uc011lyh.1_Missense_Mutation_p.L292M|GSN_uc011lyi.1_Missense_Mutation_p.L275M|GSN_uc011lyj.1_Missense_Mutation_p.L299M|GSN_uc004blg.1_Missense_Mutation_p.L57M	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	326	Gelsolin-like 3.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CCAGGGGGCCCTGAAGTCAGA	0.572000												
GSN	2934	broad.mit.edu	37	9	124091285	124091285	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:124091285C>T	uc004blf.1	+	14	2093	c.2032C>T	c.(2032-2034)CGT>TGT	p.R678C	GSN_uc004bld.1_Missense_Mutation_p.R627C|GSN_uc010mvq.1_Missense_Mutation_p.R638C|GSN_uc010mvr.1_Missense_Mutation_p.R638C|GSN_uc010mvu.1_Missense_Mutation_p.R627C|GSN_uc010mvt.1_Missense_Mutation_p.R627C|GSN_uc010mvs.1_Missense_Mutation_p.R627C|GSN_uc004ble.1_Missense_Mutation_p.R627C|GSN_uc010mvv.1_Missense_Mutation_p.R627C|GSN_uc011lyh.1_Missense_Mutation_p.R644C|GSN_uc011lyi.1_Missense_Mutation_p.R627C|GSN_uc011lyj.1_Missense_Mutation_p.R651C|GSN_uc004blg.1_Missense_Mutation_p.R409C	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	678	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CAAGATTGGACGTTTTGTGGT	0.617000												
GARNL3	84253	broad.mit.edu	37	9	130111298	130111298	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:130111298C>T	uc011mae.1	+	17	1928	c.1527C>T	c.(1525-1527)GGC>GGT	p.G509G	GARNL3_uc011mad.1_Silent_p.G487G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	509	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTGATGCTGGCGTCTTGCTAG	0.507000												
ST6GALNAC6	30815	broad.mit.edu	37	9	130648926	130648926	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:130648926C>T	uc004bso.1	-	7	1073	c.954G>A	c.(952-954)TCG>TCA	p.S318S	ST6GALNAC6_uc004bsn.1_Silent_p.S284S|ST6GALNAC6_uc011man.1_Silent_p.S118S|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.R317H|ST6GALNAC6_uc004bsq.1_Silent_p.S284S|ST6GALNAC6_uc004bsr.2_Silent_p.S284S|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	318	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						GCTGGGCCCACGATGAGAAGA	0.612000												
GOLGA2	2801	broad.mit.edu	37	9	131020423	131020423	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:131020423G>A	uc011maw.1	-	22	2276	c.2263C>T	c.(2263-2265)CGT>TGT	p.R755C	GOLGA2_uc010mxw.2_Missense_Mutation_p.R78C|GOLGA2_uc004buh.2_Missense_Mutation_p.R228C	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	755	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						AGCTGCCCACGTAGCCTTGCC	0.622000												
GOLGA2	2801	broad.mit.edu	37	9	131029791	131029791	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:131029791C>T	uc011maw.1	-	6	439	c.426G>A	c.(424-426)GCG>GCA	p.A142A	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_Silent_p.A43A|GOLGA2_uc004bum.1_Silent_p.A43A	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	142	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						TGACACATGTCGCAGACTATA	0.552000												
NUP188	23511	broad.mit.edu	37	9	131718660	131718660	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:131718660A>G	uc004bws.1	+	4	215	c.193A>G	c.(193-195)AAA>GAA	p.K65E	NUP188_uc004bwq.1_Missense_Mutation_p.K67E	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	65					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GAAAGCTAATAAAGATGTAGC	0.328000												
ASS1	445	broad.mit.edu	37	9	133355792	133355792	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:133355792G>A	uc004bzm.2	+	12	1150	c.794G>A	c.(793-795)CGT>CAT	p.R265H	ASS1_uc004bzn.2_Missense_Mutation_p.R265H|ASS1_uc010mza.2_Missense_Mutation_p.R341H|ASS1_uc004bzo.2_Missense_Mutation_p.R246H|ASS1_uc010mzb.2_Missense_Mutation_p.R303H|ASS1_uc004bzp.2_Missense_Mutation_p.R265H|ASS1_uc010mzc.2_Missense_Mutation_p.R265H	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	265			R -> H (in CTLN1).|R -> C (in CTLN1; severe clinical course).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCGTGGGCCGTATTGACATC	0.612000												
BAT2L1	84726	broad.mit.edu	37	9	134340381	134340381	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:134340381C>T	uc004can.3	+	11	1691	c.1636C>T	c.(1636-1638)CGG>TGG	p.R546W	BAT2L1_uc010mzj.1_Missense_Mutation_p.R129W	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	546	Potential.						protein binding				0						AGGTGAGGCCCGGAAGCAGGC	0.622000												
BAT2L1	84726	broad.mit.edu	37	9	134350806	134350806	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:134350806G>A	uc004can.3	+	15	3345	c.3290G>A	c.(3289-3291)CGC>CAC	p.R1097H	BAT2L1_uc010mzj.1_Missense_Mutation_p.R680H|BAT2L1_uc004cao.3_Missense_Mutation_p.R455H	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1097							protein binding				0						CTGGGGGCCCGCAGCATCTAC	0.701000												
PMPCA	23203	broad.mit.edu	37	9	139317663	139317663	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:139317663G>A	uc004chl.2	+	13	1530	c.1525G>A	c.(1525-1527)GCC>ACC	p.A509T	PMPCA_uc010nbl.2_Missense_Mutation_p.A409T|PMPCA_uc011mdz.1_Missense_Mutation_p.A378T|PMPCA_uc004chn.1_3'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	509					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CATCCAGACCGCCCTGTCGAG	0.652000												
INPP5E	56623	broad.mit.edu	37	9	139324254	139324254	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:139324254G>A	uc004cho.2	-	10	2193	c.1808C>T	c.(1807-1809)CCG>CTG	p.P603L	INPP5E_uc010nbm.2_Missense_Mutation_p.P602L	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	603						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGCTGCCAACGGAATGCTGTG	0.567000												
ABCA2	20	broad.mit.edu	37	9	139905490	139905490	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:139905490C>T	uc011mem.1	-	38	6136	c.5988G>A	c.(5986-5988)GCG>GCA	p.A1996A	ABCA2_uc011mel.1_Silent_p.A1997A|ABCA2_uc004ckl.1_Silent_p.A1927A|ABCA2_uc004ckm.1_Silent_p.A2027A	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1996	Helical; (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGCCCTCAACCGCCATGGCCA	0.537000												
DPP7	29952	broad.mit.edu	37	9	140007557	140007557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:140007557G>A	uc004clh.2	-	7	748	c.718C>T	c.(718-720)CGC>TGC	p.R240C		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	dipeptidyl peptidase 7 preproprotein	240						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AACTCCCAGCGGACCGTGTCG	0.642000												
NDOR1	27158	broad.mit.edu	37	9	140106987	140106987	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:140106987C>T	uc004clw.2	+	3	358	c.247C>T	c.(247-249)CCC>TCC	p.P83S	NDOR1_uc004clx.2_Missense_Mutation_p.P83S|NDOR1_uc011mes.1_Missense_Mutation_p.P83S|NDOR1_uc004cly.2_Missense_Mutation_p.P83S	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	83	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GAAGAACCTGCCCTCCACTGC	0.592000												
EHMT1	79813	broad.mit.edu	37	9	140638440	140638440	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:140638440C>T	uc011mfc.1	+	6	1105	c.1068C>T	c.(1066-1068)CTC>CTT	p.L356L	EHMT1_uc004coa.2_Silent_p.L356L|EHMT1_uc004cob.1_Silent_p.L325L	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	356					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGAGGAGCTCGAGGAGGACG	0.647000												
IL3RA	3563	broad.mit.edu	37	X	1471219	1471219	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:1471219C>T	uc004cps.2	+	6	785	c.436C>T	c.(436-438)CGT>TGT	p.R146C	IL3RA_uc011mhd.1_Missense_Mutation_p.R68C	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	146	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCGCAGCAGGCGTCAACAGTA	0.597000												
P2RY8	286530	broad.mit.edu	37	X	1585026	1585026	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:1585026G>A	uc004cpz.2	-	2	674	c.426C>T	c.(424-426)GCC>GCT	p.A142A		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	142	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCACACGCGGCCACCGCGT	0.687000			T	CRLF2	B-ALL|Downs associated ALL							
DHRSX	207063	broad.mit.edu	37	X	2343243	2343243	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:2343243A>G	uc004cqf.3	-	2	261	c.212T>C	c.(211-213)ATC>ACC	p.I71T		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	71	NAD or NADP (By similarity).						binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATCACCTATGATAACATGCAT	0.328000												
MXRA5	25878	broad.mit.edu	37	X	3235851	3235851	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:3235851G>A	uc004crg.3	-	6	6028	c.5871C>T	c.(5869-5871)TAC>TAT	p.Y1957Y		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1957	Ig-like C2-type 4.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGACGTCCTGGTAGTGGGAGG	0.582000												
WWC3	55841	broad.mit.edu	37	X	10078029	10078029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:10078029C>T	uc004csx.3	+	9	1141	c.943C>T	c.(943-945)CGG>TGG	p.R315W	WWC3_uc010nds.2_Translation_Start_Site|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	315	Potential.									ovary(4)	4						GCGGCGTGCACGGGCCACCTC	0.677000												
GRPR	2925	broad.mit.edu	37	X	16170715	16170715	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:16170715G>A	uc004cxj.2	+	3	1755	c.1102G>A	c.(1102-1104)GTG>ATG	p.V368M		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	368	Cytoplasmic (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					CAACCCCTCCGTGGCCACCTT	0.537000												
MAP3K15	389840	broad.mit.edu	37	X	19389099	19389099	+	Silent	SNP	G	G	A	rs143117337		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:19389099G>A	uc004czk.1	-	25	3440	c.1803C>T	c.(1801-1803)GCC>GCT	p.A601A	MAP3K15_uc004czj.1_Silent_p.A561A|MAP3K15_uc004czi.1_Silent_p.A60A	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	1126							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					TGGTGACCGCGGCCTGCACCG	0.443000												
SH3KBP1	30011	broad.mit.edu	37	X	19725094	19725094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:19725094G>A	uc004czm.2	-	4	611	c.295C>T	c.(295-297)CGG>TGG	p.R99W	SH3KBP1_uc004czl.2_Missense_Mutation_p.R62W	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	99	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						CGGCGCCTCCGTCGCTCGCCT	0.502000												
ZFX	7543	broad.mit.edu	37	X	24228818	24228818	+	Silent	SNP	C	C	T	rs143557208	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:24228818C>T	uc004dbf.2	+	9	2001	c.1743C>T	c.(1741-1743)TGC>TGT	p.C581C	ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.C620C|ZFX_uc010nfz.2_Silent_p.C237C	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	581	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						GCCAGTACTGCGAATATAGGT	0.428000												
PDK3	5165	broad.mit.edu	37	X	24483604	24483604	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:24483604C>T	uc004dbg.2	+	1	261	c.32C>T	c.(31-33)CCG>CTG	p.P11L	PDK3_uc004dbh.2_Missense_Mutation_p.P11L	NM_005391	NP_005382	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase 3 isoform 2	11					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						CTGAAGCAGCCGGTGCCCAAG	0.682000												
IL1RAPL1	11141	broad.mit.edu	37	X	29301173	29301173	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:29301173C>T	uc004dby.2	+	3	709	c.201C>T	c.(199-201)GCC>GCT	p.A67A		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	67	Ig-like C2-type 1.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						ACTCCCTTGCCCAAAGTGCTG	0.413000												
FAM47A	158724	broad.mit.edu	37	X	34148467	34148467	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:34148467C>A	uc004ddg.2	-	1	1962	c.1929G>T	c.(1927-1929)AAG>AAT	p.K643N		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	643										ovary(4)|central_nervous_system(1)	5						CTTTCTTAAACTTTTGGTCCT	0.443000												
CHST7	56548	broad.mit.edu	37	X	46433917	46433917	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:46433917C>T	uc004dgt.2	+	1	726	c.551C>T	c.(550-552)ACG>ATG	p.T184M		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	184	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						gccccggACACGGCCAATCTT	0.562000												
SLC9A7	84679	broad.mit.edu	37	X	46541838	46541838	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:46541838T>C	uc004dgu.1	-	2	466	c.458A>G	c.(457-459)TAC>TGC	p.Y153C	SLC9A7_uc004dgv.1_Missense_Mutation_p.Y153C	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	153					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						TTTCAGAGTGTATTCGAAGAA	0.502000												
WAS	7454	broad.mit.edu	37	X	48547416	48547416	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:48547416G>A	uc004dkm.3	+	10	1356	c.1299G>A	c.(1297-1299)GCG>GCA	p.A433A		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	433	WH2.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				GTCGGGGAGCGCTTTTGGATC	0.602000			Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome			
SYP	6855	broad.mit.edu	37	X	49048143	49048143	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:49048143C>T	uc004dmz.1	-	6	709	c.693G>A	c.(691-693)CCG>CCA	p.P231P	SYP_uc011mmz.1_Silent_p.P113P|SYP_uc004dna.1_Silent_p.P225P	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	231	Cytoplasmic (Potential).				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				CGCGCAGGAACGGGGCGGCCC	0.706000												
CACNA1F	778	broad.mit.edu	37	X	49083447	49083447	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:49083447C>T	uc004dnb.2	-	9	1323	c.1261G>A	c.(1261-1263)GCC>ACC	p.A421T	CACNA1F_uc010nip.2_Missense_Mutation_p.A421T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	421	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	TTGTCATCGGCGGAGGGGTCC	0.602000												
SHROOM4	57477	broad.mit.edu	37	X	50377325	50377325	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:50377325C>T	uc004dpe.2	-	4	1774	c.1748G>A	c.(1747-1749)CGG>CAG	p.R583Q	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R467Q	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	583					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					CTCACTCTTCCGCCGGTTTTG	0.582000												
SHROOM4	57477	broad.mit.edu	37	X	50557009	50557009	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:50557009G>A	uc004dpe.2	-	1	36	c.10C>T	c.(10-12)CGG>TGG	p.R4W	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	4					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GACCCAGGCCGGTTCTCCATC	0.687000												
IQSEC2	23096	broad.mit.edu	37	X	53285133	53285133	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:53285133C>G	uc004dsd.2	-	3	1049	c.848G>C	c.(847-849)GGC>GCC	p.G283A	IQSEC2_uc004dsc.2_Missense_Mutation_p.G78A	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	273					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						AGCAGGGGGGCCCCCCATGTG	0.687000												
HUWE1	10075	broad.mit.edu	37	X	53573484	53573484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:53573484G>A	uc004dsp.2	-	70	11230	c.10828C>T	c.(10828-10830)CGG>TGG	p.R3610W	HUWE1_uc004dsn.2_Missense_Mutation_p.R2418W|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3610					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGTCCCCCCGGGAGAGCTGC	0.512000												
PHF8	23133	broad.mit.edu	37	X	54026320	54026320	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:54026320C>A	uc004dsu.2	-	11	1397	c.1324G>T	c.(1324-1326)GCC>TCC	p.A442S	PHF8_uc004dst.2_Missense_Mutation_p.A406S|PHF8_uc004dsv.2_Missense_Mutation_p.A272S|PHF8_uc004dsw.2_Missense_Mutation_p.A406S|PHF8_uc004dsx.2_Missense_Mutation_p.A170S|PHF8_uc004dsy.2_Missense_Mutation_p.A406S	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	442					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						CTTGTCCAGGCTCTAAAGGCC	0.478000												
WNK3	65267	broad.mit.edu	37	X	54263784	54263784	+	Silent	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:54263784G>T	uc004dtd.1	-	20	4513	c.4074C>A	c.(4072-4074)ACC>ACA	p.T1358T	WNK3_uc004dtc.1_Silent_p.T1405T	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1358					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TTTCTTTACAGGTTTCCTGAA	0.378000												
WNK3	65267	broad.mit.edu	37	X	54275765	54275765	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:54275765G>T	uc004dtd.1	-	17	3455	c.3016C>A	c.(3016-3018)CCA>ACA	p.P1006T	WNK3_uc004dtc.1_Missense_Mutation_p.P1006T	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1006					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TGGTGACATGGATACACAGGT	0.443000												
ZXDB	158586	broad.mit.edu	37	X	57618747	57618747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:57618747G>A	uc004dvd.2	+	1	479	c.266G>A	c.(265-267)GGC>GAC	p.G89D		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	89	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						ggcggcggcggcgacgACTTC	0.552000												
HEPH	9843	broad.mit.edu	37	X	65486430	65486430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:65486430G>A	uc011moz.1	+	21	3462	c.3402G>A	c.(3400-3402)TGG>TGA	p.W1134*	HEPH_uc004dwn.2_Nonsense_Mutation_p.W1133*|HEPH_uc004dwo.2_Nonsense_Mutation_p.W864*|HEPH_uc010nkr.2_Nonsense_Mutation_p.W942*|HEPH_uc011mpa.1_Nonsense_Mutation_p.W1134*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	1131	Helical; (Potential).				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GAGTGGTTTGGTACCAACATC	0.488000												
ZMYM3	9203	broad.mit.edu	37	X	70469892	70469892	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:70469892C>T	uc004dzh.1	-	6	1322	c.1235G>A	c.(1234-1236)TGC>TAC	p.C412Y	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.C412Y|ZMYM3_uc004dzj.1_Missense_Mutation_p.C412Y|ZMYM3_uc011mpu.1_Missense_Mutation_p.C143Y|ZMYM3_uc004dzk.3_Missense_Mutation_p.C412Y|ZMYM3_uc004dzl.3_Missense_Mutation_p.C412Y|ZMYM3_uc004dzm.3_Missense_Mutation_p.C412Y	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	412	MYM-type 2.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					AGTCTTCTGGCATATGCTGCA	0.642000												
NONO	4841	broad.mit.edu	37	X	70516763	70516763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:70516763G>A	uc004dzo.2	+	8	1519	c.809G>A	c.(808-810)CGC>CAC	p.R270H	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.R270H|NONO_uc004dzp.2_Missense_Mutation_p.R270H|NONO_uc011mpv.1_Missense_Mutation_p.R181H|NONO_uc004dzq.2_Missense_Mutation_p.R139H	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	270	Potential.|DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					TATGCCATGCGCTGGAAGGCA	0.522000			T	TFE3	papillary renal cancer							
PHKA1	5255	broad.mit.edu	37	X	71829541	71829541	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:71829541G>C	uc004eax.3	-	23	2840	c.2539C>G	c.(2539-2541)CTT>GTT	p.L847V	PHKA1_uc004eay.3_Missense_Mutation_p.L847V|PHKA1_uc011mqi.1_Missense_Mutation_p.L788V	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	847					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					TGGGAGAGAAGGTCTGTGCAG	0.448000												
NAP1L2	4674	broad.mit.edu	37	X	72434188	72434188	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:72434188G>A	uc004ebi.2	-	1	497	c.141C>T	c.(139-141)TGC>TGT	p.C47C	NAP1L2_uc011mqj.1_Intron	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	47					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					CTTCTTCACCGCACTTCCCAT	0.567000												
KIAA2022	340533	broad.mit.edu	37	X	73961406	73961406	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:73961406T>C	uc004eby.2	-	3	3603	c.2986A>G	c.(2986-2988)ATG>GTG	p.M996V		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	996					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AGTGGGGCCATTGAATCAAAG	0.443000												
MAGEE1	57692	broad.mit.edu	37	X	75649451	75649451	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:75649451G>A	uc004ecm.1	+	1	1335	c.1128G>A	c.(1126-1128)TCG>TCA	p.S376S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	376	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CTGATGGATCGGACACCTCCG	0.682000												
ATRX	546	broad.mit.edu	37	X	76939711	76939711	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:76939711A>G	uc004ecp.3	-	9	1269	c.1037T>C	c.(1036-1038)CTA>CCA	p.L346P	ATRX_uc004ecq.3_Missense_Mutation_p.L308P|ATRX_uc004eco.3_Missense_Mutation_p.L131P|ATRX_uc004ecr.2_Missense_Mutation_p.L307P|ATRX_uc010nlx.1_Missense_Mutation_p.L346P|ATRX_uc010nly.1_Missense_Mutation_p.L291P	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	346					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GGGCACAATTAGTGCGGAATA	0.363000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
MAGT1	84061	broad.mit.edu	37	X	77150868	77150868	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:77150868T>C	uc004fof.2	-	1	198	c.136A>G	c.(136-138)ATG>GTG	p.M46V	MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.M46V	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	14					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						GCCACCACCATGGTCACAGAG	0.567000												
SATL1	340562	broad.mit.edu	37	X	84362915	84362915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:84362915G>A	uc011mqx.1	-	1	1060	c.1060C>T	c.(1060-1062)CGA>TGA	p.R354*	SATL1_uc004een.2_Nonsense_Mutation_p.R354*	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	167	Gln-rich.						N-acetyltransferase activity			breast(2)	2						CTTGGGGCTCGTTGCGGTGGA	0.537000												
TGIF2LX	90316	broad.mit.edu	37	X	89177108	89177108	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:89177108G>A	uc004efe.2	+	2	73	c.24G>A	c.(22-24)CCG>CCA	p.P8P		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CGGACGGCCCGGCTGAGACCC	0.527000												
PCDH19	57526	broad.mit.edu	37	X	99657766	99657766	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:99657766C>T	uc010nmz.2	-	3	4048	c.2372G>A	c.(2371-2373)CGG>CAG	p.R791Q	PCDH19_uc004efw.3_Missense_Mutation_p.R744Q|PCDH19_uc004efx.3_Missense_Mutation_p.R744Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	791	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CTCCACATCCCGGGGTACCAG	0.483000												
NXF5	55998	broad.mit.edu	37	X	101095825	101095825	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:101095825C>A	uc011mrk.1	-	9	883	c.523G>T	c.(523-525)GAT>TAT	p.D175Y	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	175	LRR 1.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						GAAAGGCCATCCAGCTGGTAC	0.473000												
TCEAL5	340543	broad.mit.edu	37	X	102529304	102529304	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:102529304T>G	uc004ejz.1	-	3	483	c.188A>C	c.(187-189)GAG>GCG	p.E63A		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	63	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						CAGTTGtccctcatcacctgg	0.269000												
PLP1	5354	broad.mit.edu	37	X	103041611	103041611	+	Missense_Mutation	SNP	C	C	T	rs132630295		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:103041611C>T	uc010nov.2	+	4	689	c.409C>T	c.(409-411)CGG>TGG	p.R137W	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.R137W|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.R82W|PLP1_uc010now.1_Missense_Mutation_p.R141W|PLP1_uc010nox.2_Missense_Mutation_p.R91W	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	137	Cytoplasmic (Probable).		R -> W (in SPG2).|Missing (in HLD1).		cell death|synaptic transmission	integral to membrane		p.R137W(1)		ovary(1)	1						TTCTTTGGAGCGGGTGTGTCA	0.552000												
NRK	203447	broad.mit.edu	37	X	105181436	105181436	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:105181436A>G	uc004emd.2	+	22	3964	c.3661A>G	c.(3661-3663)AAT>GAT	p.N1221D	NRK_uc010npc.1_Missense_Mutation_p.N889D	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1221	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						AACAGGAGTCAATTTGCTGTT	0.348000										HNSCC(51;0.14)		
RNF128	79589	broad.mit.edu	37	X	105970349	105970349	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:105970349G>A	uc004eml.2	+	1	456	c.206G>A	c.(205-207)GGC>GAC	p.G69D	RNF128_uc004emk.2_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	69						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	p.G69D(1)		ovary(1)|central_nervous_system(1)	2						AGCGAGGAGGGCGTGTACGGC	0.682000												
RNF128	79589	broad.mit.edu	37	X	105970426	105970426	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:105970426G>A	uc004eml.2	+	1	533	c.283G>A	c.(283-285)GCC>ACC	p.A95T	RNF128_uc004emk.2_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	95	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGCGCTTAACGCCTGTAACCC	0.677000												
ATG4A	115201	broad.mit.edu	37	X	107372043	107372043	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:107372043C>T	uc004enr.2	+	3	277	c.154C>T	c.(154-156)CGT>TGT	p.R52C	ATG4A_uc004ent.2_Missense_Mutation_p.R52C|ATG4A_uc004ens.2_5'UTR|ATG4A_uc011msl.1_5'UTR|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	52					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1						TATAAGTGCTCGTCTATGGTT	0.323000												
IRS4	8471	broad.mit.edu	37	X	107977352	107977352	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:107977352T>C	uc004eoc.2	-	1	2256	c.2223A>G	c.(2221-2223)AGA>AGG	p.R741R		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	741	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TCATGTACCCTCTTGAATCTT	0.468000												
GUCY2F	2986	broad.mit.edu	37	X	108691390	108691390	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:108691390G>A	uc004eod.3	-	6	1753	c.1477C>T	c.(1477-1479)CGT>TGT	p.R493C	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	493	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						TTATTTATACGACGCCTAAAA	0.398000												
AMMECR1	9949	broad.mit.edu	37	X	109507781	109507781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:109507781C>A	uc004eoo.2	-	2	601	c.520G>T	c.(520-522)GGA>TGA	p.G174*	AMMECR1_uc004eop.2_Intron|AMMECR1_uc004eoq.2_Nonsense_Mutation_p.G51*	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	174	AMMECR1.										0						CCTATGCATCCACGTAATCTT	0.343000												
TRPC5	7224	broad.mit.edu	37	X	111195319	111195319	+	Silent	SNP	G	G	A	rs139867130		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:111195319G>A	uc004epl.1	-	2	1249	c.330C>T	c.(328-330)GGC>GGT	p.G110G	TRPC5_uc004epm.1_Silent_p.G110G	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	110	ANK 3.|Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GCTCCACAGCGCCCACCACTT	0.547000												
NKRF	55922	broad.mit.edu	37	X	118724034	118724034	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:118724034C>T	uc004erq.2	-	2	2007	c.1354G>A	c.(1354-1356)GTG>ATG	p.V452M	NKRF_uc004err.2_Missense_Mutation_p.V452M	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	452					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2						AGCGTGCACACGGGATTTGAA	0.423000												
GRIA3	2892	broad.mit.edu	37	X	122537368	122537368	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:122537368C>T	uc004etq.3	+	10	1584	c.1291C>T	c.(1291-1293)CTG>TTG	p.L431L	GRIA3_uc004etr.3_Silent_p.L431L|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.L415L	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	431	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	GACTACCATTCTGGTAAGTGT	0.428000												
ODZ1	10178	broad.mit.edu	37	X	123514832	123514832	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:123514832G>T	uc004euj.2	-	31	7796	c.7732C>A	c.(7732-7734)CTT>ATT	p.L2578I	ODZ1_uc011muj.1_Missense_Mutation_p.L2584I|ODZ1_uc010nqy.2_Missense_Mutation_p.L2585I	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2578	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						AGAGACCCAAGCTTAATGAAG	0.498000												
IGSF1	3547	broad.mit.edu	37	X	130417039	130417039	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:130417039T>C	uc004ewd.2	-	6	1105	c.867A>G	c.(865-867)CAA>CAG	p.Q289Q	IGSF1_uc004ewe.3_Silent_p.Q278Q|IGSF1_uc004ewf.2_Silent_p.Q269Q	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	289	Ig-like C2-type 3.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GTCCAGTATCTTGGATCTTCA	0.398000												
GPR112	139378	broad.mit.edu	37	X	135430010	135430010	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:135430010G>T	uc004ezu.1	+	6	4436	c.4145G>T	c.(4144-4146)AGC>ATC	p.S1382I	GPR112_uc010nsb.1_Missense_Mutation_p.S1177I|GPR112_uc010nsc.1_Missense_Mutation_p.S1149I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1382	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GAAAAGGAAAGCACGAGTGCC	0.453000												
GPR101	83550	broad.mit.edu	37	X	136113044	136113044	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:136113044G>A	uc011mwh.1	-	1	790	c.790C>T	c.(790-792)CGC>TGC	p.R264C		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	264	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TCATGCTGGCGGCGAAACTCA	0.562000												
SLITRK2	84631	broad.mit.edu	37	X	144906227	144906227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:144906227C>T	uc004fcd.2	+	5	3274	c.2284C>T	c.(2284-2286)CGA>TGA	p.R762*	SLITRK2_uc010nsp.2_Nonsense_Mutation_p.R762*|SLITRK2_uc010nso.2_Nonsense_Mutation_p.R762*|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.R762*|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.R762*|SLITRK2_uc011mws.1_Nonsense_Mutation_p.R762*|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.R762*|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.R762*|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	762	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TATTGCTGAGCGAGTCAAGGA	0.493000												
FMR1	2332	broad.mit.edu	37	X	147009866	147009866	+	Silent	SNP	G	G	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:147009866G>A	uc010nst.2	+	4	414	c.225G>A	c.(223-225)GAG>GAA	p.E75E	FMR1_uc011mwz.1_Silent_p.E75E|FMR1_uc004fcj.2_Silent_p.E75E|FMR1_uc004fck.3_Silent_p.E75E|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	75					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAAAAGAGCCTTGCTGTT	0.313000									Fragile_X_syndrome			
GPR50	9248	broad.mit.edu	37	X	150345310	150345310	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:150345310C>T	uc010ntg.1	+	1	252	c.117C>T	c.(115-117)ATC>ATT	p.I39I	uc004fes.1_RNA|GPR50_uc011myc.1_Silent_p.I39I	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	39	Helical; Name=1; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTATCACCATCGTTGTAGACC	0.512000												
GPR50	9248	broad.mit.edu	37	X	150349306	150349306	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:150349306C>T	uc010ntg.1	+	2	1386	c.1251C>T	c.(1249-1251)CAC>CAT	p.H417H	uc004fes.1_5'Flank	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	417	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGTCACCTCAAGCCTG	0.572000												
PLXNB3	5365	broad.mit.edu	37	X	153033730	153033730	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153033730C>T	uc004fii.2	+	4	1287	c.1113C>T	c.(1111-1113)GGC>GGT	p.G371G	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.G53G|PLXNB3_uc010nuk.2_Silent_p.G394G|PLXNB3_uc011mzd.1_Silent_p.G10G	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	371	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCCTGTGGCGACGAGCACA	0.687000												
PLXNB3	5365	broad.mit.edu	37	X	153040511	153040511	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153040511C>G	uc004fii.2	+	24	4282	c.4108C>G	c.(4108-4110)CTC>GTC	p.L1370V	PLXNB3_uc010nuk.2_Missense_Mutation_p.L1393V|PLXNB3_uc011mzd.1_Missense_Mutation_p.L1009V|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1370	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCAGGGCCTCACGCAGCT	0.697000												
HCFC1	3054	broad.mit.edu	37	X	153217121	153217121	+	Silent	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153217121C>T	uc004fjp.2	-	21	5826	c.5298G>A	c.(5296-5298)CCG>CCA	p.P1766P		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1766					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACCACAACCGGCTGGGGGG	0.617000												
FLNA	2316	broad.mit.edu	37	X	153593586	153593586	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153593586C>T	uc004fkk.2	-	11	1858	c.1609G>A	c.(1609-1611)GTG>ATG	p.V537M	FLNA_uc010nuu.1_Missense_Mutation_p.V537M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	537	Filamin 3.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCCATACACGCCATCCCCC	0.637000												
FLNA	2316	broad.mit.edu	37	X	153599571	153599571	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:153599571C>T	uc004fkk.2	-	2	292	c.43G>A	c.(43-45)GCG>ACG	p.A15T	FLNA_uc010nuu.1_Missense_Mutation_p.A15T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	15	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGAGCCGCGCCTGCTGCG	0.721000												
FUNDC2	65991	broad.mit.edu	37	X	154280049	154280049	+	Silent	SNP	T	T	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:154280049T>C	uc004fmw.2	+	4	615	c.465T>C	c.(463-465)CCT>CCC	p.P155P		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	155						mitochondrion					0	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCAGATACCTACTGAGGTCA	0.463000												
BRCC3	79184	broad.mit.edu	37	X	154348417	154348417	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:154348417C>G	uc004fna.2	+	11	1036	c.943C>G	c.(943-945)CTA>GTA	p.L315V	BRCC3_uc004fnb.2_Missense_Mutation_p.L290V	NM_024332	NP_077308	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	315					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(3)|ovary(1)|large_intestine(1)|breast(1)	6	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)					ACTTTCTTCTCTAGAATAAAT	0.403000												
CHRD	8646	broad.mit.edu	37	3	184105718	184105718	+	Splice_Site	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:184105718delG	uc003fov.2	+	20	2698	c.2452_splice	c.e20-1	p.G818_splice	CHRD_uc003fow.2_Splice_Site_p.G448_splice|CHRD_uc003fox.2_Splice_Site_p.G818_splice|CHRD_uc003foy.2_Splice_Site_p.G448_splice|CHRD_uc010hyc.2_Splice_Site_p.G408_splice|CHRD_uc011brr.1_Splice_Site_p.G360_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATCCCTACAGGGGGGCACTG	0.607												
DLG1	1739	broad.mit.edu	37	3	196857544	196857545	+	Splice_Site	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:196857544_196857545insA	uc003fxo.3	-	12	1310	c.1120_splice	c.e12-1	p.V374_splice	DLG1_uc011bub.1_Splice_Site_p.V258_splice|DLG1_uc011buc.1_Splice_Site_p.V258_splice|DLG1_uc011bud.1_Splice_Site_p.V57_splice|DLG1_uc003fxn.3_Splice_Site_p.V374_splice|DLG1_uc011bue.1_Splice_Site_p.V341_splice|DLG1_uc010ial.2_Splice_Site_p.V374_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333												
PPP3R1	5534	broad.mit.edu	37	2	68413787	68413787	+	Splice_Site	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:68413786_68413786TA>T	uc002sei.1	-	5	673	c.281_splice	c.e5-1	p.F94_splice		NM_000945	NP_000936	P63098	CANB1_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, alpha (PPP3R1), mRNA.	94	EF-hand 3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	GGAAAGCAACTAAAAAAAAGG	0.328												
KCNH7	90134	broad.mit.edu	37	2	163361170	163361170	+	Splice_Site	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373												
DLG1	1739	broad.mit.edu	37	3	196857545	196857546	+	Splice_Site	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:196857544_196857545T>TA	uc010ial.3	-	12	1379	c.1120_splice	c.e12-1	p.V374_splice	DLG1_uc011bub.2_Splice_Site_p.V258_splice|DLG1_uc011buc.2_Splice_Site_p.V258_splice|DLG1_uc011bud.2_Splice_Site_p.V57_splice|DLG1_uc003fxo.4_Splice_Site_p.V374_splice|DLG1_uc003fxn.4_Splice_Site_p.V374_splice|DLG1_uc011bue.2_Splice_Site_p.V341_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	374	PDZ 2.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332												
APBB2	323	broad.mit.edu	37	4	41016418	41016418	+	Splice_Site	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:41016417_41016417TG>T	uc003gvn.3	-	6	650	c.20_splice	c.e6-1	p.A7_splice	APBB2_uc003gvl.3_Splice_Site_p.A7_splice|APBB2_uc003gvm.3_Splice_Site_p.A7_splice|APBB2_uc011byt.1_Splice_Site	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	7					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGAGTCAGCTGGGGAAAAAA	0.413												
CD109	135228	broad.mit.edu	37	6	74492481	74492481	+	Splice_Site	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:74492480_74492480TA>T	uc003php.3	+	18	2536	c.2105_splice	c.e18+2	p.G702_splice	CD109_uc003phq.3_Splice_Site_p.G702_splice|CD109_uc010kba.3_Splice_Site_p.G625_splice	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	702	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAACATGGGGTAAAAATTTAT	0.348												
PDE10A	10846	broad.mit.edu	37	6	165844963	165844964	+	Splice_Site	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:165844962_165844963T>TA	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACAA	0.327												
COPB1	1315	broad.mit.edu	37	11	14510133	14510133	+	Splice_Site	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:14510132_14510132TA>T	uc001mlh.2	-	6	853	c.607_splice	c.e6-1	p.D203_splice	COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	203					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGCTCGATCCTAAAAAAAATA	0.294												
MED19	219541	broad.mit.edu	37	11	57472193	57472193	+	Splice_Site	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:57472192_57472192TG>T	uc001nla.1	-	3	593	c.571_splice	c.e3+1	p.E191_splice	MED19_uc001nlb.3_Splice_Site_p.G191_splice	NM_153450	NP_703151	A0JLT2	MED19_HUMAN	Homo sapiens mediator complex subunit 19 (MED19), mRNA.	191	Lys-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						GCTTCTTACCTGGGGGGACAG	0.418												
MYCBP2	23077	broad.mit.edu	37	13	77743852	77743852	+	Splice_Site	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:77743851_77743851TA>T	uc021rks.1	-	39	6062	c.5795_splice	c.e39-1	p.A1932_splice	MYCBP2_uc010aev.3_Splice_Site_p.A1298_splice	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTCATCAGCTAAAAAAAGGC	0.393												
KCNH5	27133	broad.mit.edu	37	14	63473193	63473193	+	Splice_Site	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:63473192_63473192TG>T	uc001xfx.3	-	3	249	c.198_splice	c.e3-1	p.S66_splice	KCNH5_uc001xfy.3_Splice_Site_p.S66_splice|KCNH5_uc001xfz.1_Splice_Site_p.S8_splice|KCNH5_uc001xga.3_Splice_Site_p.S8_splice	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	66	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACATAAAACTGGGGGGGAAA	0.353												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
KLK8	11202	broad.mit.edu	37	19	51503682	51503683	+	Splice_Site	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51503681_51503682G>GT	uc002puq.1	-	3	551	c.365_splice	c.e3+1	p.P122_splice	KLK9_uc002puw.1_Splice_Site|KLK8_uc002pur.1_Splice_Site_p.P77_splice|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Splice_Site_p.P77_splice|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	77	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TCCACTCACGGTTTTTTACAGT	0.599												
CAMTA1	23261	broad.mit.edu	37	1	7724998	7724998	+	Frame_Shift_Del	DEL	G	G	-	rs61742693	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:7724998delG	uc001aoi.2	+	9	2598	c.2391delG	c.(2389-2391)TCGfs	p.S797fs		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCTGGTGTCGGGGGACAGCA	0.637												
RERE	473	broad.mit.edu	37	1	8418586	8418586	+	Frame_Shift_Del	DEL	G	G	-	rs638744		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:8418586delG	uc001ape.2	-	21	4819	c.4009delC	c.(4009-4011)CTGfs	p.L1337fs	RERE_uc001apf.2_Frame_Shift_Del_p.L1337fs|RERE_uc001apd.2_Frame_Shift_Del_p.L783fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1337					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCTGGGTGCAGGGGGTCCAGC	0.701												
ARID1A	8289	broad.mit.edu	37	1	27102120	27102121	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:27102120_27102121delAG	uc001bmv.1	+	19	5419_5420	c.5046_5047delAG	c.(5044-5049)GCAGAGfs	p.A1682fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A1681fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A1465fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.A528fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.A10fs|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1682_1683					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCTCCTGGCAGAGAGCACATG	0.525			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
YTHDF2	51441	broad.mit.edu	37	1	29069277	29069279	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:29069277_29069279delTGA	uc001brc.2	+	4	992_994	c.495_497delTGA	c.(493-498)ATTGAT>ATT	p.D166del	YTHDF2_uc001brd.2_In_Frame_Del_p.D163del|YTHDF2_uc010ofx.1_In_Frame_Del_p.D116del|YTHDF2_uc001bre.2_In_Frame_Del_p.D116del	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	166					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCATGATTGATGGACAGTCA	0.468												
MAP7D1	55700	broad.mit.edu	37	1	36643530	36643530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:36643530delC	uc001bzz.2	+	9	1652	c.1436delC	c.(1435-1437)TCCfs	p.S479fs	MAP7D1_uc001caa.2_Frame_Shift_Del_p.S447fs|MAP7D1_uc001cab.2_Frame_Shift_Del_p.S442fs|MAP7D1_uc001cac.2_Frame_Shift_Del_p.S179fs|MAP7D1_uc001cad.2_Frame_Shift_Del_p.S25fs	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	479	Pro-rich.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				AGGCCTGCCTCCCCCTGCCCC	0.647												
SSX2IP	117178	broad.mit.edu	37	1	85130170	85130170	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:85130170delT	uc001dkh.2	-	7	878	c.603delA	c.(601-603)AAAfs	p.K201fs	SSX2IP_uc001dkf.2_Frame_Shift_Del_p.K174fs|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Frame_Shift_Del_p.K174fs|SSX2IP_uc001dki.2_Frame_Shift_Del_p.K201fs|SSX2IP_uc010osa.1_Frame_Shift_Del_p.K174fs|SSX2IP_uc001dkj.2_Frame_Shift_Del_p.K201fs|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Frame_Shift_Del_p.K197fs	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	201	Potential.				cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATTCACGCTCTTTTCTCTTCA	0.338												
PRPF38B	55119	broad.mit.edu	37	1	109242456	109242456	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:109242456delA	uc001dvv.3	+	6	1737	c.1455delA	c.(1453-1455)TCAfs	p.S485fs	PRPF38B_uc001dvw.3_Frame_Shift_Del_p.S374fs|PRPF38B_uc010ouz.1_Frame_Shift_Del_p.S288fs	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	485					mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TTGAAAAATCAAAAAAACGGG	0.343												
SLC19A2	10560	broad.mit.edu	37	1	169446550	169446552	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:169446550_169446552delAAG	uc001gge.3	-	2	852_854	c.648_650delCTT	c.(646-651)TTCTTT>TTT	p.216_217FF>F	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	216_217	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					AATGTGGTGAAAGAAGAGGCTCT	0.498												
KIAA1614	57710	broad.mit.edu	37	1	180904705	180904705	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:180904705delC	uc001gok.2	+	5	1727	c.1660delC	c.(1660-1662)CCCfs	p.P554fs	KIAA1614_uc001gol.1_Frame_Shift_Del_p.P175fs|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	554										ovary(3)|skin(1)	4						GGGGAAGGCGCCCCCCGTCCC	0.751												
DENND1B	163486	broad.mit.edu	37	1	197509196	197509197	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:197509196_197509197insT	uc010ppe.1	-	19	1690_1691	c.1352_1353insA	c.(1351-1353)AATfs	p.N451fs	DENND1B_uc010ppf.1_RNA	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 1	Error:Variant_position_missing_in_Q6P3S1_after_alignment						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						AATCTTCTTCATTTTCCTACAC	0.312												
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:204228411delC	uc001hau.2	-	8	1299	c.982delG	c.(982-984)GTAfs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	328	Pro-rich.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622												
LAMB3	3914	broad.mit.edu	37	1	209797293	209797295	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:209797293_209797295delACA	uc001hhg.2	-	14	2417_2419	c.2027_2029delTGT	c.(2026-2031)TTGTCC>TCC	p.L676del	LAMB3_uc009xco.2_In_Frame_Del_p.L676del|LAMB3_uc001hhh.2_In_Frame_Del_p.L676del|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	676	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCGGAAGGGACAACGTCTCCTC	0.507												
TP53BP2	7159	broad.mit.edu	37	1	223971921	223971923	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:223971921_223971923delCTT	uc010pvb.1	-	17	3549_3551	c.3257_3259delAAG	c.(3256-3261)GAAGGA>GGA	p.E1086del	TP53BP2_uc001hod.2_In_Frame_Del_p.E957del|TP53BP2_uc010puz.1_In_Frame_Del_p.E319del|TP53BP2_uc010pva.1_In_Frame_Del_p.E725del	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	1080	Mediates interaction with APC2.|SH3.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ATGCAGTCTCCTTCTTTCATGGG	0.438												
CUBN	8029	broad.mit.edu	37	10	17113854	17113854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:17113854delT	uc001ioo.2	-	18	2470	c.2418delA	c.(2416-2418)AAAfs	p.K806fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	806	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAACTAGCTTTTTCAACAG	0.313												
MAPK8	5599	broad.mit.edu	37	10	49613018	49613019	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:49613018_49613019insA	uc009xnz.2	+	3	470_471	c.246_247insA	c.(244-249)CACAAAfs	p.H82fs	MAPK8_uc001jgl.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgm.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgo.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc009xoa.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgn.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc010qgk.1_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgp.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgq.2_Frame_Shift_Ins_p.H82fs	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	82_83	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GTGTTAATCACAAAAATGTAAG	0.332												
CCDC6	8030	broad.mit.edu	37	10	61665913	61665915	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:61665913_61665915delCTC	uc001jks.3	-	1	904_906	c.268_270delGAG	c.(268-270)GAGdel	p.E90del		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	90	Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		GGTCGCGGTTCTCCTCCTGCAGT	0.665												
TET1	80312	broad.mit.edu	37	10	70446283	70446284	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:70446283_70446284insA	uc001jok.3	+	11	5728_5729	c.5223_5224insA	c.(5221-5226)CGCAAAfs	p.R1741fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1741_1742					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CACCCCGCCGCAAAAAAAGAAC	0.490												
PTEN	5728	broad.mit.edu	37	10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:89717770delA	uc001kfb.2	+	8	1826	c.795delA	c.(793-795)CTAfs	p.L265fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	C2 tensin-type.			KMLKKDK->AAGAADA: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K267fs*9(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGATGCTAAAAAAGGTTT	0.348		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
HPX	3263	broad.mit.edu	37	11	6461701	6461701	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:6461701delA	uc001mdg.2	-	3	271	c.210delT	c.(208-210)TTTfs	p.F70fs	HPX_uc001mdf.2_5'Flank|HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Frame_Shift_Del_p.F70fs	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	70	Hemopexin-like 1.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TCCTACCTTTAAAAAACAGCA	0.488												
LDHA	3939	broad.mit.edu	37	11	18418442	18418442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:18418442delC	uc001mok.3	+	2	325	c.53delC	c.(52-54)ACCfs	p.T18fs	LDHA_uc010rdc.1_Frame_Shift_Del_p.T18fs|LDHA_uc009yhn.2_Frame_Shift_Del_p.T18fs|LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Frame_Shift_Del_p.T18fs|LDHA_uc010rdd.1_Frame_Shift_Del_p.T47fs	NM_005566	NP_005557	P00338	LDHA_HUMAN	lactate dehydrogenase A isoform 1	18					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)	3					NADH(DB00157)	GAAGAACAGACCCCCCAGAAT	0.418												
UBXN1	51035	broad.mit.edu	37	11	62445075	62445075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:62445075delG	uc001nul.1	-	7	698	c.566delC	c.(565-567)CCAfs	p.P189fs	UBXN1_uc001nuj.2_Frame_Shift_Del_p.P189fs|UBXN1_uc001num.1_Frame_Shift_Del_p.P185fs|UBXN1_uc001nuk.2_3'UTR|UBXN1_uc010rme.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	189	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						TGGTGCCACTGGGGGTGGCTG	0.532												
ANKRD13D	338692	broad.mit.edu	37	11	67066574	67066575	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:67066574_67066575delTG	uc001okc.1	+	8	1027_1028	c.516_517delTG	c.(514-519)ACTGTTfs	p.T172fs	ANKRD13D_uc001okd.1_Frame_Shift_Del_p.T259fs|ANKRD13D_uc001oke.1_Frame_Shift_Del_p.T172fs|ANKRD13D_uc001okg.1_5'UTR|ANKRD13D_uc001okh.1_5'UTR|ANKRD13D_uc001oki.1_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	172_173										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGATGGAAACTGTTAGCGGCTA	0.584												
ATM	472	broad.mit.edu	37	11	108178656	108178656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:108178656delA	uc001pkb.1	+	38	6092	c.5707delA	c.(5707-5709)AAAfs	p.K1903fs	ATM_uc009yxr.1_Frame_Shift_Del_p.K1903fs|ATM_uc001pke.1_Frame_Shift_Del_p.K555fs|ATM_uc001pkg.1_Frame_Shift_Del_p.K260fs|ATM_uc009yxt.1_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1903					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGTTTGGATAAAAAATCACA	0.388			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
CACNA1C	775	broad.mit.edu	37	12	2797835	2797835	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:2797835delG	uc009zdu.1	+	49	6569	c.6256delG	c.(6256-6258)GGGfs	p.G2086fs	CACNA1C_uc009zdv.1_Frame_Shift_Del_p.G2000fs|CACNA1C_uc001qkb.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkc.2_Frame_Shift_Del_p.G2022fs|CACNA1C_uc001qke.2_Frame_Shift_Del_p.G1992fs|CACNA1C_uc001qkf.2_Frame_Shift_Del_p.G2011fs|CACNA1C_uc001qjz.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkd.2_Frame_Shift_Del_p.G2022fs|CACNA1C_uc001qkg.2_Frame_Shift_Del_p.G2009fs|CACNA1C_uc009zdw.1_Frame_Shift_Del_p.G2044fs|CACNA1C_uc001qkh.2_Frame_Shift_Del_p.G2011fs|CACNA1C_uc001qkl.2_Frame_Shift_Del_p.G2051fs|CACNA1C_uc001qkn.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qko.2_Frame_Shift_Del_p.G2023fs|CACNA1C_uc001qkp.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkr.2_Frame_Shift_Del_p.G2020fs|CACNA1C_uc001qku.2_Frame_Shift_Del_p.G2038fs|CACNA1C_uc001qkq.2_Frame_Shift_Del_p.G2031fs|CACNA1C_uc001qks.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkt.2_Frame_Shift_Del_p.G2022fs|CACNA1C_uc001qki.1_Frame_Shift_Del_p.G1810fs|CACNA1C_uc001qkj.1_Frame_Shift_Del_p.G1774fs|CACNA1C_uc001qkk.1_Frame_Shift_Del_p.G1739fs|CACNA1C_uc001qkm.1_Frame_Shift_Del_p.G1799fs|CACNA1C_uc010sea.1_Frame_Shift_Del_p.G694fs|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Frame_Shift_Del_p.G321fs	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2086	Poly-Gly.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCCGGTGGCGGGGGCAGCAG	0.706												
KIAA0748	9840	broad.mit.edu	37	12	55356642	55356642	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:55356642delG	uc001sgn.3	-	9	1150	c.1040delC	c.(1039-1041)CCTfs	p.P347fs	KIAA0748_uc001sgl.3_Frame_Shift_Del_p.P209fs|KIAA0748_uc001sgm.3_Frame_Shift_Del_p.P94fs|KIAA0748_uc010spb.1_Frame_Shift_Del_p.P94fs|KIAA0748_uc010spc.1_Frame_Shift_Del_p.P209fs|KIAA0748_uc010spd.1_Frame_Shift_Del_p.P347fs|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	347										ovary(1)|central_nervous_system(1)	2						ACCCTCAGCAGGGGGCACAGG	0.498												
EEA1	8411	broad.mit.edu	37	12	93236245	93236245	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:93236245delT	uc001tck.2	-	10	1176	c.911delA	c.(910-912)AATfs	p.N304fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	304	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TCTCACCTGATTTTTTTGTGT	0.284												
SBNO1	55206	broad.mit.edu	37	12	123805034	123805034	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:123805034delG	uc010tap.1	-	18	2612	c.2612delC	c.(2611-2613)CCTfs	p.P871fs	SBNO1_uc010tao.1_Frame_Shift_Del_p.P870fs|SBNO1_uc010taq.1_Intron	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	871							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAGGGTATTAGGGGGGAGGTC	0.448												
SLC7A1	6541	broad.mit.edu	37	13	30091766	30091766	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:30091766delT	uc001uso.2	-	10	1841	c.1454delA	c.(1453-1455)AACfs	p.N485fs		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	485	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGGCTCCATGTTTTTGGGTGA	0.473												
SETDB2	83852	broad.mit.edu	37	13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:50065970delA	uc001vcz.2	+	15	3051	c.2145delA	c.(2143-2145)AGAfs	p.R715fs	SETDB2_uc001vda.2_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ATAAATGTAGAAAAAAAATAT	0.373												
ABCC4	10257	broad.mit.edu	37	13	95735432	95735432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:95735432delA	uc001vmd.3	-	21	2767	c.2648delT	c.(2647-2649)TTGfs	p.L883fs	ABCC4_uc010afk.2_Frame_Shift_Del_p.L836fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	883	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGACGTTTCCAAAAAATATCG	0.443												
CBLN3	643866	broad.mit.edu	37	14	24898055	24898055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:24898055delG	uc001wpg.3	-	1	677	c.206delC	c.(205-207)CCTfs	p.P69fs	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	69	C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		CACTCGCCCAGGGGGTGCCTC	0.677												
ARHGAP5	394	broad.mit.edu	37	14	32562545	32562545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:32562545delT	uc001wrl.2	+	2	2909	c.2670delT	c.(2668-2670)GATfs	p.D890fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	890					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCCAAGCAGATTTTTTTGAAA	0.403												
C14orf145	145508	broad.mit.edu	37	14	80963839	80963840	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:80963839_80963840insT	uc001xux.2	-	24	3438_3439	c.3267_3268insA	c.(3265-3270)AAAGAGfs	p.K1089fs	C14orf145_uc010asz.1_Intron	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	1089_1090						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		CCATATTCCTCTTTTTTGGGTT	0.347												
RPS6KA5	9252	broad.mit.edu	37	14	91444703	91444703	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:91444703delA	uc001xys.2	-	3	556	c.341delT	c.(340-342)TTGfs	p.L114fs	RPS6KA5_uc010twi.1_Frame_Shift_Del_p.L35fs|RPS6KA5_uc001xyt.2_Frame_Shift_Del_p.L114fs|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	114	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TAATGTTACCAAAAATGGCGA	0.368												
TRIP11	9321	broad.mit.edu	37	14	92472698	92472698	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:92472698delT	uc001xzy.2	-	11	2410	c.1622delA	c.(1621-1623)AAGfs	p.K541fs	TRIP11_uc010auf.1_Frame_Shift_Del_p.K277fs	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	541	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		ATGAACTCTCTTTTTTTCATC	0.303			T	PDGFRB	AML							
MNS1	55329	broad.mit.edu	37	15	56735891	56735893	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:56735891_56735893delTCT	uc002adr.2	-	6	1011_1013	c.846_848delAGA	c.(844-849)GAAGAT>GAT	p.E282del	MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	282	Potential.|Glu-rich.				meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TGCCATCCGATCTTCTTCTCTTT	0.369												
SLTM	79811	broad.mit.edu	37	15	59185211	59185211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:59185211delT	uc002afp.2	-	14	1871	c.1783delA	c.(1783-1785)AGAfs	p.R595fs	SLTM_uc002afn.2_Frame_Shift_Del_p.R137fs|SLTM_uc002afo.2_Frame_Shift_Del_p.R577fs|SLTM_uc002afq.2_Frame_Shift_Del_p.R164fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.R164fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	595	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TCTTTATCTCTTTTTTTATCT	0.343												
RASGRF1	5923	broad.mit.edu	37	15	79291158	79291158	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:79291158delG	uc002beq.2	-	19	3179	c.2804delC	c.(2803-2805)CCAfs	p.P935fs	RASGRF1_uc002bep.2_Frame_Shift_Del_p.P919fs|RASGRF1_uc010blm.1_Frame_Shift_Del_p.P844fs|RASGRF1_uc002ber.3_Frame_Shift_Del_p.P919fs|RASGRF1_uc010unh.1_Frame_Shift_Del_p.P330fs|RASGRF1_uc002beo.2_Frame_Shift_Del_p.P151fs	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	937					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						CCTCTGGTCTGGGGGAAACCC	0.567												
SRRM2	23524	broad.mit.edu	37	16	2809032	2809034	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:2809032_2809034delAAG	uc002crk.2	+	6	1189_1191	c.640_642delAAG	c.(640-642)AAGdel	p.K217del	SRRM2_uc002crj.1_In_Frame_Del_p.K121del|SRRM2_uc002crl.1_In_Frame_Del_p.K217del|SRRM2_uc010bsu.1_In_Frame_Del_p.K121del	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	217	Sufficient for RNA-binding.|Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GAAAAGCTCAAAGAAGAAGAAGC	0.448												
CLDN9	9080	broad.mit.edu	37	16	3063895	3063895	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3063895delG	uc010uwo.1	+	1	1439	c.532delG	c.(532-534)GGGfs	p.G178fs		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	178	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TATGCTGGGCGGGGGGCTCCT	0.721												
ZNF434	54925	broad.mit.edu	37	16	3433514	3433515	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3433514_3433515insT	uc002cuz.2	-	6	1597_1598	c.795_796insA	c.(793-798)CCATCCfs	p.P265fs	ZNF434_uc002cux.3_Frame_Shift_Ins_p.P476fs|ZNF434_uc010uwx.1_Frame_Shift_Ins_p.P188fs|ZNF434_uc002cuy.3_Frame_Shift_Ins_p.P188fs	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	zinc finger protein 434	265_266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTCTCCTGGGATGGGGTTTTCT	0.485												
CLN3	1201	broad.mit.edu	37	16	28495431	28495434	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:28495431_28495434delAAGA	uc002dpo.2	-	9	1006_1009	c.683_686delTCTT	c.(682-687)TTCTTGfs	p.F228fs	uc010vct.1_Intron|CLN3_uc002dpl.2_Frame_Shift_Del_p.F150fs|CLN3_uc010vcu.1_Frame_Shift_Del_p.F128fs|CLN3_uc002dpn.2_Frame_Shift_Del_p.F129fs|CLN3_uc002dpm.2_Frame_Shift_Del_p.F174fs|CLN3_uc010vcv.1_Frame_Shift_Del_p.F204fs|CLN3_uc010byd.2_Frame_Shift_Del_p.F228fs|CLN3_uc002dpp.2_Frame_Shift_Del_p.F228fs|CLN3_uc002dpt.1_Frame_Shift_Del_p.F128fs|CLN3_uc002dpq.1_Frame_Shift_Del_p.F180fs|CLN3_uc010bye.1_Frame_Shift_Del_p.F228fs|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Frame_Shift_Del_p.F101fs|CLN3_uc002dpu.1_Frame_Shift_Del_p.F126fs|CLN3_uc002dpw.1_Frame_Shift_Del_p.F75fs|CLN3_uc010vcw.1_Frame_Shift_Del_p.F174fs|CLN3_uc002dqa.2_Frame_Shift_Del_p.F279fs|CLN3_uc010vcx.1_Frame_Shift_Del_p.F128fs|CLN3_uc002dpx.1_Frame_Shift_Del_p.F105fs|CLN3_uc002dpy.1_Frame_Shift_Del_p.F72fs	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	228_229	Helical; (Potential).				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						TGTGAGCAACAAGAAATAGCTAGG	0.564												
ASPHD1	253982	broad.mit.edu	37	16	29912627	29912628	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:29912627_29912628insT	uc002dut.2	+	1	481_482	c.335_336insT	c.(334-336)GCTfs	p.A112fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	112	Gly-rich.|Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity				0						GGGAGCCGAGCTGGGGGTGTTC	0.688												
SRR	63826	broad.mit.edu	37	17	2224617	2224618	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:2224617_2224618delAA	uc002fue.1	+	5	485_486	c.417_418delAA	c.(415-420)GCAAAAfs	p.A139fs	SRR_uc002fui.1_5'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	139_140					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAAATGTTGCAAAAAGAGTTAC	0.366												
KDM6B	23135	broad.mit.edu	37	17	7751995	7751995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:7751995delC	uc002giw.1	+	11	2765	c.2389delC	c.(2389-2391)CCCfs	p.P797fs	KDM6B_uc002gix.2_Frame_Shift_Del_p.P99fs	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	797	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						accacccccacccccCAGCCC	0.343												
MPRIP	23164	broad.mit.edu	37	17	17061827	17061827	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:17061827delG	uc002gqu.1	+	14	1613	c.1557delG	c.(1555-1557)CTGfs	p.L519fs	MPRIP_uc002gqv.1_Frame_Shift_Del_p.L519fs|MPRIP_uc002gqw.1_Frame_Shift_Del_p.L274fs	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	519						cytoplasm|cytoskeleton	actin binding				0						AGGCAGAGCTGGGGGAGCCGG	0.627												
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:26449740delT	uc010crj.2	+	2	782	c.570delT	c.(568-570)TGTfs	p.C190fs	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	190	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGTTGTGTTTTTTTAAGC	0.388												
BZRAP1	9256	broad.mit.edu	37	17	56400095	56400095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:56400095delC	uc002ivx.3	-	9	2108	c.1237delG	c.(1237-1239)GTGfs	p.V413fs	BZRAP1_uc010dcs.2_Frame_Shift_Del_p.V353fs|BZRAP1_uc010wnt.1_Frame_Shift_Del_p.V413fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	413						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTGTGTCACCCCCAGGAGC	0.647												
CARD14	79092	broad.mit.edu	37	17	78176025	78176025	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:78176025delG	uc002jxw.1	+	15	2220	c.2025delG	c.(2023-2025)TCGfs	p.S675fs	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Frame_Shift_Del_p.S675fs|CARD14_uc010wud.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	675					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGCGACCTCGGGGGACTCAT	0.587												
RAB31	11031	broad.mit.edu	37	18	9845647	9845648	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:9845647_9845648insA	uc002kog.2	+	6	624_625	c.449_450insA	c.(448-450)GCAfs	p.A150fs		NM_006868	NP_006859	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	149					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						GAGACAAGTGCAAAAAATGCTA	0.421												
KLHL14	57565	broad.mit.edu	37	18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-	rs147661052		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:30349862delG	uc002kxm.1	-	2	1081	c.693delC	c.(691-693)CCCfs	p.P231fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	231	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGACTCCACGGGGGGCGGCA	0.642												
BSG	682	broad.mit.edu	37	19	577814	577814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:577814delG	uc002loz.2	+	2	206	c.108delG	c.(106-108)GTGfs	p.V36fs	BSG_uc002loy.2_Intron|BSG_uc002lpa.2_Intron|BSG_uc002lpb.2_Intron|BSG_uc010drr.2_Intron|BSG_uc002lpc.2_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	basigin isoform 1 precursor	36					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGTGGGTGGGGGGCAGTG	0.692												
DAZAP1	26528	broad.mit.edu	37	19	1432590	1432590	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:1432590delG	uc002lsn.2	+	11	1138	c.949delG	c.(949-951)GGGfs	p.G317fs	DAZAP1_uc002lsm.2_Frame_Shift_Del_p.G317fs|DAZAP1_uc002lso.2_Frame_Shift_Del_p.G316fs|DAZAP1_uc002lsl.1_Frame_Shift_Del_p.G317fs	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	317	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AGCCACTCCCGGGGCAGCACC	0.647												
ZNF77	58492	broad.mit.edu	37	19	2933664	2933666	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:2933664_2933666delACT	uc002lws.3	-	4	1590_1592	c.1459_1461delAGT	c.(1459-1461)AGTdel	p.S487del		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTGACCCCACTGTGTGATCTC	0.507												
MAP1S	55201	broad.mit.edu	37	19	17838362	17838362	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:17838362delC	uc002nhe.1	+	5	2178	c.2169delC	c.(2167-2169)GGCfs	p.G723fs	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Frame_Shift_Del_p.G697fs	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	723	Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CGCTGCGTGGCCCCCGGGCGC	0.682												
CILP2	148113	broad.mit.edu	37	19	19656228	19656229	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:19656228_19656229insG	uc002nmv.3	+	8	2959_2960	c.2874_2875insG	c.(2872-2877)GCAGGGfs	p.A958fs	CILP2_uc002nmw.3_Frame_Shift_Ins_p.A964fs	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	958_959						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						CCCACAACGCAGGGGGCAGCCA	0.683												
IRGQ	126298	broad.mit.edu	37	19	44096194	44096194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:44096194delG	uc002oww.2	-	2	1974	c.1856delC	c.(1855-1857)CCTfs	p.P619fs	IRGQ_uc010eiv.2_Frame_Shift_Del_p.P619fs	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	619							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				GGCAGGCTCAGGGGGTGCCAG	0.657												
LMTK3	114783	broad.mit.edu	37	19	49001688	49001688	+	Frame_Shift_Del	DEL	C	C	-	rs35275345		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:49001688delC	uc002pjk.2	-	12	2725	c.2725delG	c.(2725-2727)GCGfs	p.A909fs		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGGGCTGTCGCCCCCTTCTCC	0.662												
ZNF17	7565	broad.mit.edu	37	19	57932545	57932545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:57932545delT	uc002qoo.1	+	3	1916	c.1685delT	c.(1684-1686)GTTfs	p.V562fs	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Frame_Shift_Del_p.V564fs	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	562	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGTGGGAGAGTTTTTAGCCAA	0.403												
ZNF549	256051	broad.mit.edu	37	19	58049657	58049657	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:58049657delA	uc002qpb.1	+	4	1534	c.1285delA	c.(1285-1287)AAAfs	p.K429fs	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Frame_Shift_Del_p.K416fs	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	429	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCATTCACAAAAAAAGACT	0.418												
PRKCE	5581	broad.mit.edu	37	2	46386829	46386830	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:46386829_46386830delAA	uc002rut.2	+	14	2202_2203	c.2005_2006delAA	c.(2005-2007)AAAfs	p.K669fs		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	669	AGC-kinase C-terminal.				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)			CCCATTCTTCAAAGAGATTGAC	0.559												
PELI1	57162	broad.mit.edu	37	2	64331929	64331931	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:64331929_64331931delCTT	uc002scs.3	-	2	4144_4146	c.105_107delAAG	c.(103-108)GGAAGG>GGG	p.R37del	PELI1_uc002sct.3_In_Frame_Del_p.R37del|PELI1_uc002scu.1_RNA	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	37					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						ACTTTTCCTCCTTCCTCTATCGC	0.414												
RANBP2	5903	broad.mit.edu	37	2	109389413	109389413	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:109389413delT	uc002tem.3	+	23	8329	c.8203delT	c.(8203-8205)TTTfs	p.F2735fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2735	Interaction with SUMO1.|2 X 50 AA approximate repeats.|2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TCCACCTACATTTTTTTGTGG	0.358												
SCN9A	6335	broad.mit.edu	37	2	167055185	167055185	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:167055185delT	uc010fpl.2	-	27	6272	c.5931delA	c.(5929-5931)AAAfs	p.K1977fs	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1988						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGAAGCTCTATTTTTTGCTTT	0.328												
RBM44	375316	broad.mit.edu	37	2	238727072	238727072	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:238727072delA	uc002vxi.3	+	3	1645	c.1513delA	c.(1513-1515)AAAfs	p.K505fs		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	504							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AATGATGAATAAAAAACGACC	0.383												
NXT1	29107	broad.mit.edu	37	20	23334925	23334926	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:23334925_23334926insA	uc002wsx.1	+	2	634_635	c.247_248insA	c.(247-249)GAAfs	p.E83fs		NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	NTF2-like export factor 1	83	NTF2.					cytoplasm|nuclear pore				ovary(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTTCATGATGAAGCCACACCA	0.480												
ITSN1	6453	broad.mit.edu	37	21	35147278	35147278	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:35147278delA	uc002yta.1	+	14	1730	c.1462delA	c.(1462-1464)AAAfs	p.K488fs	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Frame_Shift_Del_p.K488fs|ITSN1_uc010gmg.2_Frame_Shift_Del_p.K451fs|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Frame_Shift_Del_p.K488fs|ITSN1_uc010gmi.2_Frame_Shift_Del_p.K451fs|ITSN1_uc010gmj.2_Frame_Shift_Del_p.K372fs|ITSN1_uc002ysy.2_Frame_Shift_Del_p.K488fs|ITSN1_uc002ysx.2_Frame_Shift_Del_p.K451fs|ITSN1_uc002ytb.1_Frame_Shift_Del_p.K488fs|ITSN1_uc002ytc.1_Frame_Shift_Del_p.K488fs|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Frame_Shift_Del_p.K451fs|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Frame_Shift_Del_p.K488fs|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Frame_Shift_Del_p.K422fs	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	488	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CAAGAATGATAAAAAGCATCA	0.313												
SGSM1	129049	broad.mit.edu	37	22	25308665	25308665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:25308665delC	uc003abg.2	+	23	3196	c.3039delC	c.(3037-3039)TTCfs	p.F1013fs	SGSM1_uc003abh.2_Frame_Shift_Del_p.F952fs|SGSM1_uc010guu.1_Frame_Shift_Del_p.F958fs|SGSM1_uc003abj.2_Frame_Shift_Del_p.F897fs|SGSM1_uc003abi.1_Frame_Shift_Del_p.F933fs	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	1013	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						ACCAGAACTTCCCCCACGGAG	0.522												
C22orf23	84645	broad.mit.edu	37	22	38340219	38340221	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:38340219_38340221delCTT	uc003auj.1	-	7	706_708	c.615_617delAAG	c.(613-618)AGAAGG>AGG	p.205_206RR>R	C22orf23_uc003auk.1_In_Frame_Del_p.205_206RR>R	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	hypothetical protein LOC84645	205_206											0	Melanoma(58;0.045)					TTCCTCACTCCTTCTGTGGTCAA	0.552												
CSNK1E	1454	broad.mit.edu	37	22	38698968	38698970	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:38698968_38698970delGTT	uc003avj.2	-	4	493_495	c.232_234delAAC	c.(232-234)AACdel	p.N78del	CSNK1E_uc003avk.2_In_Frame_Del_p.N78del|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_In_Frame_Del_p.N78del|CSNK1E_uc003avo.2_In_Frame_Del_p.N78del|CSNK1E_uc003avp.1_In_Frame_Del_p.N78del|CSNK1E_uc003avq.1_In_Frame_Del_p.N78del|LOC400927_uc010gxm.2_RNA	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	78	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)					TGACCATCACGTTGTAGTCGCCC	0.621												
TNRC6B	23112	broad.mit.edu	37	22	40661353	40661353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:40661353delA	uc011aor.1	+	5	1330	c.1119delA	c.(1117-1119)CCAfs	p.P373fs	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Frame_Shift_Del_p.P373fs|TNRC6B_uc003ayo.2_Frame_Shift_Del_p.P177fs	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	373					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CTGATGGACCAAAAAATGGAA	0.453												
CELSR1	9620	broad.mit.edu	37	22	46793727	46793728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:46793727_46793728insC	uc003bhw.1	-	12	5544_5545	c.5544_5545insG	c.(5542-5547)GGGACGfs	p.G1848fs	CELSR1_uc011arc.1_Frame_Shift_Ins_p.G169fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1848_1849	Extracellular (Potential).|Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTGGTGGGCGTCCCCCCCATCC	0.599												
NBEAL2	23218	broad.mit.edu	37	3	47040920	47040920	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:47040920delC	uc003cqp.2	+	25	3838	c.3659delC	c.(3658-3660)TCCfs	p.S1220fs	NBEAL2_uc010hjm.1_Frame_Shift_Del_p.S728fs|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1220	Leu-rich.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGGACTGTTTCCCCCCAGCTC	0.632												
ACAD11	84129	broad.mit.edu	37	3	132322086	132322086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:132322086delT	uc003eov.3	-	13	1988	c.1608delA	c.(1606-1608)AAAfs	p.K536fs	ACAD11_uc011blr.1_Frame_Shift_Del_p.K147fs	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	536						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						TGCTCCACCATTTTTTGCCGT	0.373												
SR140	23350	broad.mit.edu	37	3	142773947	142773948	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:142773947_142773948insA	uc003evh.1	+	27	3036_3037	c.2937_2938insA	c.(2935-2940)AGCAAAfs	p.S979fs	SR140_uc003evi.1_Frame_Shift_Ins_p.S570fs|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Frame_Shift_Ins_p.S978fs	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	979_980	Arg/Ser-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						GAGATGTTAGCAAAAAAGCCAA	0.391												
CCDC39	339829	broad.mit.edu	37	3	180378490	180378490	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:180378490delT	uc010hxe.2	-	4	499	c.384delA	c.(382-384)AAAfs	p.K128fs	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	128					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AACCATCCAATTTTTGAGTGG	0.368												
CCDC39	339829	broad.mit.edu	37	3	180379660	180379661	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:180379660_180379661delTT	uc010hxe.2	-	3	460_461	c.345_346delAA	c.(343-348)AAAAGTfs	p.K115fs	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	115_116	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTTATCACTTTTCTTTTCCA	0.347												
CHRD	8646	broad.mit.edu	37	3	184105718	184105718	+	Splice_Site	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:184105718delG	uc003fov.2	+	20	2698	c.2452_splice	c.e20-1	p.G818_splice	CHRD_uc003fow.2_Splice_Site_p.G448_splice|CHRD_uc003fox.2_Splice_Site_p.G818_splice|CHRD_uc003foy.2_Splice_Site_p.G448_splice|CHRD_uc010hyc.2_Splice_Site_p.G408_splice|CHRD_uc011brr.1_Splice_Site_p.G360_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATCCCTACAGGGGGGCACTG	0.607												
DLG1	1739	broad.mit.edu	37	3	196857544	196857545	+	Splice_Site	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:196857544_196857545insA	uc003fxo.3	-	12	1310	c.1120_splice	c.e12-1	p.V374_splice	DLG1_uc011bub.1_Splice_Site_p.V258_splice|DLG1_uc011buc.1_Splice_Site_p.V258_splice|DLG1_uc011bud.1_Splice_Site_p.V57_splice|DLG1_uc003fxn.3_Splice_Site_p.V374_splice|DLG1_uc011bue.1_Splice_Site_p.V341_splice|DLG1_uc010ial.2_Splice_Site_p.V374_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332												
BOD1L	259282	broad.mit.edu	37	4	13610162	13610162	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:13610162delT	uc003gmz.1	-	8	1851	c.1734delA	c.(1732-1734)AAAfs	p.K578fs	BOD1L_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	578	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						ACCTTGAATCTTTTTTTCTCT	0.358												
SLC10A6	345274	broad.mit.edu	37	4	87769943	87769943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:87769943delC	uc003hqd.2	-	1	474	c.326delG	c.(325-327)GGCfs	p.G109fs		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	109	Helical; (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AGAGATGGTGCCCCCCGGGCA	0.502												
RG9MTD2	93587	broad.mit.edu	37	4	100479335	100479335	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:100479335delT	uc003huy.2	-	3	532	c.219delA	c.(217-219)AAAfs	p.K73fs	RG9MTD2_uc003huz.3_Frame_Shift_Del_p.K73fs|RG9MTD2_uc003hva.3_Frame_Shift_Del_p.K73fs	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	73	Potential.						methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GTCGCTCTAATTTTTTCCTCT	0.328												
ANKRD50	57182	broad.mit.edu	37	4	125591535	125591535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:125591535delA	uc003ifg.3	-	3	3163	c.2897delT	c.(2896-2898)TTAfs	p.L966fs	ANKRD50_uc011cgo.1_Frame_Shift_Del_p.L787fs|ANKRD50_uc010inw.2_Frame_Shift_Del_p.L966fs	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	966	ANK 15.									central_nervous_system(1)	1						ACCATTTTCTAAAAAATATTC	0.428												
TRIO	7204	broad.mit.edu	37	5	14482694	14482694	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:14482694delA	uc003jff.2	+	46	6475	c.6469delA	c.(6469-6471)AAAfs	p.K2157fs	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Frame_Shift_Del_p.K1806fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2157	PH 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)					GTTTTAGGGGAAAATCGTTGC	0.453												
TTC33	23548	broad.mit.edu	37	5	40716477	40716477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:40716477delT	uc003jma.2	-	5	707	c.559delA	c.(559-561)AGTfs	p.S187fs	TTC33_uc011cpm.1_Frame_Shift_Del_p.S79fs|TTC33_uc010ivg.2_3'UTR	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	187							binding			ovary(1)	1						GGTGCTTCACTTTTTTTAATC	0.428												
PGGT1B	5229	broad.mit.edu	37	5	114552569	114552570	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:114552569_114552570insC	uc003kqw.3	-	8	965_966	c.944_945insG	c.(943-945)AGTfs	p.S315fs	PGGT1B_uc003kqx.3_Frame_Shift_Ins_p.S192fs|PGGT1B_uc010jch.2_Frame_Shift_Ins_p.S238fs	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	315	PFTB 4.				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	TACCTGGATGACTGTCTGGCCA	0.327												
COL23A1	91522	broad.mit.edu	37	5	177683356	177683356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:177683356delG	uc003mje.2	-	15	1238	c.880delC	c.(880-882)CGGfs	p.R294fs	COL23A1_uc010jkt.2_Frame_Shift_Del_p.P141fs	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	294	Extracellular (Potential).|Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CAGCTTACCCGGGGCCCTGCA	0.647												
GABRR1	2569	broad.mit.edu	37	6	89895130	89895130	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:89895130delT	uc003pna.2	-	7	1150	c.695delA	c.(694-696)AAGfs	p.K232fs	GABRR1_uc011dzv.1_Frame_Shift_Del_p.K209fs	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	232	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GTCATTGCCCTTTTTCCAGTA	0.498												
PTPN12	5782	broad.mit.edu	37	7	77247840	77247840	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:77247840delA	uc003ugh.2	+	12	1074	c.983delA	c.(982-984)GAAfs	p.E328fs	PTPN12_uc011kgp.1_Frame_Shift_Del_p.E209fs|PTPN12_uc011kgq.1_Frame_Shift_Del_p.E198fs|PTPN12_uc010lds.2_Frame_Shift_Del_p.E60fs	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	328						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						ATAGAGCCTGAAAAACAAGAT	0.363												
PCLO	27445	broad.mit.edu	37	7	82582944	82582944	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:82582944delT	uc003uhx.2	-	5	7614	c.7325delA	c.(7324-7326)AAGfs	p.K2442fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K2442fs|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2373	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AACTGTTAACTTTTTTTTAGG	0.274												
CROT	54677	broad.mit.edu	37	7	86978480	86978480	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:86978480delA	uc003uit.2	+	3	341	c.96delA	c.(94-96)TTAfs	p.L32fs	CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uiu.2_Frame_Shift_Del_p.L32fs	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	32					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAGAATCATTAAAAAAATACC	0.264												
HEPACAM2	253012	broad.mit.edu	37	7	92844875	92844875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:92844875delT	uc003umm.2	-	3	577	c.554delA	c.(553-555)AATfs	p.N185fs	HEPACAM2_uc003uml.2_Frame_Shift_Del_p.N173fs|HEPACAM2_uc010lff.2_Frame_Shift_Del_p.N173fs|HEPACAM2_uc011khy.1_Frame_Shift_Del_p.N208fs	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	185	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						AGGTCTCCCATTTTTTAGCCA	0.507												
TECPR1	25851	broad.mit.edu	37	7	97862826	97862827	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:97862826_97862827insA	uc003upg.2	-	11	1783_1784	c.1578_1579insT	c.(1576-1581)TATGGGfs	p.Y526fs	TECPR1_uc003uph.1_Frame_Shift_Ins_p.Y456fs	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	526_527						integral to membrane	protein binding			pancreas(1)	1						TCATCCACCCCATACGGCTCCT	0.673												
SLC12A9	56996	broad.mit.edu	37	7	100452000	100452000	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:100452000delG	uc003uwp.2	+	2	323	c.181delG	c.(181-183)GGGfs	p.G61fs	SLC12A9_uc003uwo.1_Frame_Shift_Del_p.D61fs|SLC12A9_uc003uwq.2_Frame_Shift_Del_p.D61fs|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	61	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCTGAGGATTGGTGAGTGGGT	0.582												
SSPO	23145	broad.mit.edu	37	7	149489430	149489431	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:149489430_149489431delGT	uc010lpk.2	+	38	5583_5584	c.5583_5584delGT	c.(5581-5586)TGGTGTfs	p.W1861fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1861_1862	EGF-like 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGAGGGGTGGTGTGTGTGGCC	0.683												
KIAA0146	23514	broad.mit.edu	37	8	48511719	48511720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:48511719_48511720insG	uc003xqd.2	+	10	1514_1515	c.1505_1506insG	c.(1504-1506)CAGfs	p.Q502fs	KIAA0146_uc011lda.1_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc011ldb.1_Frame_Shift_Ins_p.Q502fs|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Frame_Shift_Ins_p.Q432fs|KIAA0146_uc011ldd.1_Frame_Shift_Ins_p.Q442fs|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc010lxt.2_Frame_Shift_Ins_p.Q191fs	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	502											0		Lung NSC(58;0.175)				AGGGGTCAGCAGGGGGCCAGCT	0.594												
DDX58	23586	broad.mit.edu	37	9	32459462	32459462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:32459462delT	uc003zra.2	-	17	2546	c.2388delA	c.(2386-2388)AAAfs	p.K796fs	DDX58_uc010mjj.2_RNA|DDX58_uc010mji.2_Frame_Shift_Del_p.K725fs	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	796	Repressor domain.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CAGGTTTTGGTTTTTCTTGAC	0.358												
GLIPR2	152007	broad.mit.edu	37	9	36147846	36147847	+	Frame_Shift_Ins	INS	-	-	C	rs60088684	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:36147846_36147847insC	uc003zyz.2	+	2	111_112	c.77_78insC	c.(76-78)GTCfs	p.V26fs	GLIPR2_uc011lpj.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc010mlf.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Frame_Shift_Ins_p.V26fs	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	26						extracellular region|Golgi membrane				skin(3)|central_nervous_system(1)	4						AAGCACGGCGTCCCCCCACTGA	0.540												
ZCCHC7	84186	broad.mit.edu	37	9	37126641	37126642	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:37126641_37126642insG	uc003zzq.2	+	2	485_486	c.312_313insG	c.(310-315)AAAGGAfs	p.K104fs	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Frame_Shift_Ins_p.K103fs|ZCCHC7_uc010mlt.2_Frame_Shift_Ins_p.K103fs|ZCCHC7_uc003zzs.1_Frame_Shift_Ins_p.K103fs	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	104_105							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		ATAGATGTAAAGGAAAGAATGT	0.386												
INVS	27130	broad.mit.edu	37	9	103055250	103055251	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:103055250_103055251delAG	uc004bap.1	+	14	2923_2924	c.2711_2712delAG	c.(2710-2712)CAGfs	p.Q904fs	INVS_uc011lve.1_Frame_Shift_Del_p.Q808fs|INVS_uc004bao.1_Frame_Shift_Del_p.Q734fs|INVS_uc004baq.1_Frame_Shift_Del_p.Q638fs|INVS_uc004bar.1_Frame_Shift_Del_p.Q808fs|INVS_uc010mtb.1_Frame_Shift_Del_p.Q578fs	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	904					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				CAGATAATTCAGAGAGAACGAA	0.535												
IKBKAP	8518	broad.mit.edu	37	9	111668653	111668653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:111668653delG	uc004bdm.3	-	14	2093	c.1573delC	c.(1573-1575)CGGfs	p.R525fs	IKBKAP_uc004bdl.2_Frame_Shift_Del_p.R176fs|IKBKAP_uc011lwc.1_Frame_Shift_Del_p.R411fs|IKBKAP_uc010mtq.2_Frame_Shift_Del_p.R176fs	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	525					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						ATGACAGACCGGGGGCTGAAC	0.468												
GTF3C4	9329	broad.mit.edu	37	9	135554691	135554691	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:135554691delA	uc010mzv.2	+	2	1943	c.1685delA	c.(1684-1686)GAAfs	p.E562fs	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	562					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GAAGCTTTGGAAAAAAAGATT	0.353												
RBBP7	5931	broad.mit.edu	37	X	16887283	16887285	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:16887283_16887285delTTC	uc004cxt.2	-	2	433_435	c.75_77delGAA	c.(73-78)AAGAAT>AAT	p.K25del	RBBP7_uc004cxs.1_In_Frame_Del_p.K69del|RBBP7_uc004cxu.2_In_Frame_Del_p.K25del	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	25					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					AAACGGTGTATTCTTCTTCCAGA	0.433												
USP9X	8239	broad.mit.edu	37	X	41060495	41060497	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:41060495_41060497delGAT	uc004dfb.2	+	31	5419_5421	c.4786_4788delGAT	c.(4786-4788)GATdel	p.D1598del	USP9X_uc004dfc.2_In_Frame_Del_p.D1598del	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1598					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TAGTGATGTAGATGATGATATGT	0.394												
ZC3H12A	80149	broad.mit.edu	37	1	37945977	37945980	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:37945976_37945979GTGTT>G	uc001cbb.4	+	2	679_682	c.529_532GTGTT>G	c.(529-534)gtgtttfs	p.V177fs	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	177					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGACATCACAGTGTTTGTGCCATC	0.623												
MEAF6	64769	broad.mit.edu	37	1	37961495	37961496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:37961494_37961495G>GT	uc001cbe.1	-	6	605_606	c.588_589C>AC	c.(586-591)aaaccafs	p.K196fs	MEAF6_uc001cbd.1_Frame_Shift_Ins_p.K164fs|MEAF6_uc009vvd.1_Non-coding_Transcript|MEAF6_uc001cbg.1_Frame_Shift_Ins_p.K186fs|MEAF6_uc001cbh.1_3'UTR	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	Homo sapiens MYST/Esa1-associated factor 6 (MEAF6), mRNA.	186					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						ACAGCTCGTGGTTTTTTGTTTA	0.381												
LPPR5	163404	broad.mit.edu	37	1	99470033	99470034	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:99470032_99470033C>CG	uc001dsb.3	-	0	417_418	c.195_196G>CG	c.(193-198)cccgtgfs	p.P65fs	LOC100129620_uc001dsd.1_Non-coding_Transcript|LPPR5_uc001dsc.3_Frame_Shift_Ins_p.P65fs	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	65						integral to membrane	hydrolase activity										TAGAGGAGCACGGGGGGCACGG	0.708												
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-	rs138415707		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403												
TTF2	8458	broad.mit.edu	37	1	117633229	117633229	+	Frame_Shift_Del	DEL	T	T	-	rs144621848		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:117633228_117633228GT>G	uc001egy.3	+	14	2591	c.2571_2571GT>G	c.(2569-2571)gtgfs	p.V857fs		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	857					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTACAATGTGTTTTTTGCAA	0.378												
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:156694022_156694023A>AG	uc001fps.1	-	1	1126_1127	c.865_866T>CT	c.(865-867)ctcfs	p.L289fs	ISG20L2_uc001fpt.1_Frame_Shift_Ins_p.L289fs	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559												
SEC16B	89866	broad.mit.edu	37	1	177927333	177927333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:177927332_177927332TG>T	uc001glj.1	-	14	2169	c.1303_1303CA>A	c.(1303-1305)agtfs	p.S435fs	SEC16B_uc001glk.1_Frame_Shift_Del_p.S111fs|SEC16B_uc001glh.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gli.1_Frame_Shift_Del_p.S434fs|SEC16B_uc009wwz.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gll.4_Frame_Shift_Del_p.S435fs	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	434					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACACTGGGGGGGATC	0.567												
RGS21	431704	broad.mit.edu	37	1	192335245	192335245	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:192335244_192335244CT>C	uc001gsh.3	+	4	623	c.449_449CT>C	c.(448-450)cctfs	p.P150fs		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	150					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AAATGGCTCCCTTTTTTGTGA	0.333												
DENND1B	163486	broad.mit.edu	37	1	197509197	197509198	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:197509196_197509197A>AT	uc021pgu.1	-	19	1750_1751	c.1412_1413T>AT	c.(1411-1413)aatfs	p.N471fs	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AATCTTCTTCATTTTCCTACAC	0.312												
LGR6	59352	broad.mit.edu	37	1	202288157	202288157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:202288156_202288156GC>G	uc001gxu.3	+	17	2725	c.2725_2725GC>G	c.(2725-2727)gccfs	p.A909fs	LGR6_uc001gxv.3_Frame_Shift_Del_p.A857fs|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Frame_Shift_Del_p.A770fs	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	909						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCAGCCAGGGGCCCCCAGGCT	0.622												
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393												
TP53BP2	7159	broad.mit.edu	37	1	223991931	223991931	+	Frame_Shift_Del	DEL	T	T	-	rs146703239		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr1:223991930_223991930CT>C	uc001hod.3	-	6	1019	c.208_208AG>G	c.(208-210)gtgfs	p.V70fs	TP53BP2_uc010pvb.2_Frame_Shift_Del_p.V199fs|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	193					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTGCTCTCACTTTTTTTAGC	0.378												
UNC50	25972	broad.mit.edu	37	2	99232795	99232795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:99232794_99232794CT>C	uc010yvl.2	+	3	811	c.577_577CT>C	c.(577-579)cttfs	p.L193fs	UNC50_uc002szc.4_Frame_Shift_Del_p.L176fs|UNC50_uc002szb.3_Frame_Shift_Del_p.L176fs	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	176					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTTATCCAGCTTTTTTTCAT	0.413												
TMEM87B	84910	broad.mit.edu	37	2	112839024	112839024	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:112839023_112839023AT>A	uc002thm.2	+	7	1135	c.766_766AT>A	c.(766-768)attfs	p.I256fs	TMEM87B_uc010fkg.2_Frame_Shift_Del_p.I239fs|TMEM87B_uc010fkh.2_3'UTR	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	256						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGCAGCTGTTATTTTTTTGGG	0.343												
TBR1	10716	broad.mit.edu	37	2	162274290	162274290	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:162274289_162274289GT>G	uc002ubw.1	+	1	1097	c.795_795GT>G	c.(793-795)aggfs	p.R265fs	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	265						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ATCACTGGAGGTTTCAAGGAG	0.423												
KCNH7	90134	broad.mit.edu	37	2	163361170	163361170	+	Splice_Site	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373												
SCN7A	6332	broad.mit.edu	37	2	167262855	167262855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:167262854_167262854GA>G	uc002udu.2	-	24	4415	c.4285_4285TC>C	c.(4285-4287)caafs	p.Q1429fs	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1429					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATTGCAACTTGAAAAAGACAG	0.358												
FASTKD1	79675	broad.mit.edu	37	2	170428530	170428531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:170428529_170428530G>GT	uc002uev.4	-	1	398_399	c.10_11C>AC	c.(10-12)acafs	p.T4fs	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	4					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAAAACAGGTGTTTTTTTCATT	0.366												
DCAF17	80067	broad.mit.edu	37	2	172334538	172334538	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:172334537_172334537TA>T	uc002ugx.3	+	11	1550	c.1223_1223TA>T	c.(1222-1224)gtafs	p.V408fs	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Frame_Shift_Del_p.V341fs|DCAF17_uc010fqg.3_Frame_Shift_Del_p.V128fs	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	408						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGACGGGTGGTAAAAAAAAGT	0.368												
NEUROD1	4760	broad.mit.edu	37	2	182542972	182542973	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:182542971_182542972T>TG	uc021vto.1	-	0	616_617	c.616_617A>CA	c.(616-618)cacfs	p.H206fs	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Frame_Shift_Ins_p.H206fs|NEUROD1_uc021vtn.1_Frame_Shift_Ins_p.H206fs	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619												
RAPH1	65059	broad.mit.edu	37	2	204305619	204305620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:204305618_204305619T>TG	uc002vad.3	-	13	2519_2520	c.2294_2295A>CA	c.(2293-2295)ccafs	p.P765fs		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	765					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGGAGGAGGTGGGGGGGGTGT	0.609												
CCDC108	255101	broad.mit.edu	37	2	219883883	219883883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:219883882_219883882CG>C	uc002vjl.1	-	20	3577	c.3493_3493CG>G	c.(3493-3495)gtcfs	p.V1165fs	CCDC108_uc002vjm.3_Frame_Shift_Del_p.V50fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1165						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATC	0.612												
DNPEP	23549	broad.mit.edu	37	2	220239648	220239649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:220239647_220239648T>TG	uc002vle.2	-	13	1482_1483	c.1336_1337A>CA	c.(1336-1338)caafs	p.Q446fs	DNPEP_uc002vli.2_Frame_Shift_Ins_p.Q393fs|DNPEP_uc010zlg.2_Frame_Shift_Ins_p.Q454fs	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	436					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CATGGCCAGTTGGGGGCTGCCT	0.604												
SP140	11262	broad.mit.edu	37	2	231159025	231159026	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:231159024_231159025G>GA	uc002vql.3	+	20	2122_2123	c.2007_2008G>GA	c.(2005-2010)aggaaafs	p.R669fs	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Frame_Shift_Ins_p.R555fs|SP140_uc002vqm.3_Frame_Shift_Ins_p.R609fs|SP140_uc010fxl.3_Frame_Shift_Ins_p.R642fs	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	669					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K672fs*4(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACGTTACAGGAAAAAAAAGGT	0.371												
PER2	8864	broad.mit.edu	37	2	239157776	239157777	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:239157775_239157776ACT>A	uc002vyc.3	-	21	3782_3783	c.3545_3546AGT>T	c.(3544-3546)agtfs	p.S1182fs	PER2_uc010znv.1_Frame_Shift_Del_p.S1182fs	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	1182	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCTGCTTCTGACTCTCCGTGAA	0.540												
HDAC4	9759	broad.mit.edu	37	2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:240002822_240002822TG>T	uc002vyk.4	-	21	3496	c.2704_2704CA>A	c.(2704-2706)atgfs	p.M902fs	HDAC4_uc010fyy.3_Frame_Shift_Del_p.M859fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	902	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGTCTCCCATGGGGGGGTCC	0.597												
HDLBP	3069	broad.mit.edu	37	2	242186274	242186274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr2:242186273_242186273AT>A	uc002waz.3	-	15	2017	c.1844_1844AT>T	c.(1843-1845)atcfs	p.I615fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.I615fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.I582fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	615	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGGAAGGTCGATTTTGGTGTT	0.488												
LAMB2	3913	broad.mit.edu	37	3	49160436	49160436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:49160435_49160435AC>A	uc003cwe.3	-	26	4574	c.4275_4275GT>T	c.(4273-4275)ggtfs	p.G1425fs	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1425	Domain alpha.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACAGCCGGCACCCCCACAAG	0.662												
DNAH1	25981	broad.mit.edu	37	3	52412624	52412624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:52412623_52412623GC>G	uc011bef.2	+	46	7465	c.7204_7204GC>G	c.(7204-7206)gccfs	p.A2402fs		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2402	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCAGCTGGGGCCCCCCACAT	0.627												
CD86	942	broad.mit.edu	37	3	121838329	121838329	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:121838328_121838328GT>G	uc003eet.3	+	6	1065	c.937_937GT>G	c.(937-939)gttfs	p.V313fs	CD86_uc011bjo.2_Frame_Shift_Del_p.V231fs|CD86_uc011bjp.2_Frame_Shift_Del_p.V201fs|CD86_uc003eeu.3_Frame_Shift_Del_p.V307fs|CD86_uc021xcz.1_Frame_Shift_Del_p.V259fs	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	313					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGCCCAGCGTGTTTTTAAAAG	0.323												
TOPBP1	11073	broad.mit.edu	37	3	133329880	133329880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:133329879_133329879AT>A	uc003eps.3	-	24	4274	c.4142_4142AT>T	c.(4141-4143)atcfs	p.I1381fs		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1381					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTGCTGGATTTTTTTTCT	0.343								Other conserved DNA damage response genes				
MED12L	116931	broad.mit.edu	37	3	151112598	151112599	+	In_Frame_Ins	INS	-	-	GCA			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:151112597_151112598T>TGCA	uc003eyp.3	+	36	5786_5787	c.5657_5658T>TGCA	c.(5656-5658)ctg>cTGCA	p.L1886L	MED12L_uc011bnz.2_In_Frame_Ins_p.L1746L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1886	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAAGCTTCTGCAGCAGCAGC	0.535												
PHC3	80012	broad.mit.edu	37	3	169896635	169896636	+	In_Frame_Ins	INS	-	-	TGG			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:169896634_169896635A>ATGG	uc003fgl.2	-	1	140_141	c.106_107T>CCAT	c.(106-108)atc>CCATc	p.I36P	PHC3_uc010hws.1_In_Frame_Ins_p.I24P|PHC3_uc011bpq.1_In_Frame_Ins_p.I36P|PHC3_uc011bpr.1_In_Frame_Ins_p.I36P|PHC3_uc003fgm.2_In_Frame_Ins_p.I36P|PHC3_uc003fgo.1_In_Frame_Ins_p.I24P|PHC3_uc003fgp.3_In_Frame_Ins_p.I36P|PHC3_uc003fgq.3_In_Frame_Ins_p.I36P|PHC3_uc003fgr.1_Non-coding_Transcript	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	24					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GGAAgtggtgatggtggtggtg	0.495												
NCEH1	57552	broad.mit.edu	37	3	172351857	172351857	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:172351856_172351856AT>A	uc011bpx.2	-	4	894	c.756_756AT>T	c.(754-756)aatfs	p.N252fs	NCEH1_uc003fig.3_Frame_Shift_Del_p.N244fs|NCEH1_uc011bpw.2_Frame_Shift_Del_p.N79fs|NCEH1_uc011bpy.2_Frame_Shift_Del_p.N79fs	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	212					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GTTTGAGCTTATTTTTTAGGC	0.373												
B3GNT5	84002	broad.mit.edu	37	3	182987674	182987674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:182987673_182987673GT>G	uc003flm.3	+	1	610	c.87_87GT>G	c.(85-87)atgfs	p.M29fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.M29fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	29					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGG	0.353												
DLG1	1739	broad.mit.edu	37	3	196857545	196857546	+	Splice_Site	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr3:196857544_196857545T>TA	uc010ial.3	-	12	1379	c.1120_splice	c.e12-1	p.V374_splice	DLG1_uc011bub.2_Splice_Site_p.V258_splice|DLG1_uc011buc.2_Splice_Site_p.V258_splice|DLG1_uc011bud.2_Splice_Site_p.V57_splice|DLG1_uc003fxo.4_Splice_Site_p.V374_splice|DLG1_uc003fxn.4_Splice_Site_p.V374_splice|DLG1_uc011bue.2_Splice_Site_p.V341_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	374	PDZ 2.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332												
ZBTB49	166793	broad.mit.edu	37	4	4304738	4304739	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:4304737_4304738CAG>C	uc003ghu.3	+	2	1349_1350	c.1174_1175CAG>C	c.(1174-1176)cagfs	p.Q392fs	ZBTB49_uc003ghv.3_5'UTR|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Frame_Shift_Del_p.Q92fs	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTTCAGTCCCAGAGACAATAC	0.480												
PCDH7	5099	broad.mit.edu	37	4	30726043	30726044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:30726042_30726043T>TC	uc003gsk.1	+	0	4006_4007	c.2998_2999T>TC	c.(2998-3000)tccfs	p.S1000fs	PCDH7_uc011bxx.2_Frame_Shift_Ins_p.S1000fs|PCDH7_uc021xnd.1_Frame_Shift_Ins_p.S1000fs|PCDH7_uc021xnc.1_Frame_Shift_Ins_p.S1000fs	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	1000					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.Y1000*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAAATCTAGTTCCCCATTGCCT	0.525												
FRYL	285527	broad.mit.edu	37	4	48566025	48566025	+	Frame_Shift_Del	DEL	G	G	-	rs137912004	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:48566024_48566024CG>C	uc003gyh.1	-	30	4142	c.3537_3537CG>G	c.(3535-3537)acgfs	p.T1179fs	FRYL_uc003gyk.3_Frame_Shift_Del_p.T1179fs|FRYL_uc003gyi.1_Frame_Shift_Del_p.T68fs	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCCGGAGCCCGTGTAGCAGC	0.502												
C4orf22	255119	broad.mit.edu	37	4	81791254	81791255	+	Frame_Shift_Ins	INS	-	-	A	rs146690045		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr4:81791253_81791254G>GA	uc010ijp.3	+	4	540_541	c.491_492G>GA	c.(490-492)ggafs	p.G164fs	C4orf22_uc003hmf.3_Frame_Shift_Ins_p.G147fs	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	147								p.G147E(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TACTTTACTGGAAAAAAAAGAC	0.371												
HTR1A	3350	broad.mit.edu	37	5	63256737	63256744	+	Frame_Shift_Del	DEL	CTTGCTCT	CTTGCTCT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:63256736_63256743CCTTGCTCT>C	uc011cqt.2	-	0	804_811	c.804_811AGAGCAAGG>G	c.(802-813)gagagcaaggctfs	p.E268fs		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	268					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.V267M(1)|p.E268*(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCACCCCCAGCCTTGCTCTCCACGCCCA	0.659												
MSH3	4437	broad.mit.edu	37	5	79970915	79970916	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:79970914_79970915C>CA	uc003kgz.3	+	6	1393_1394	c.1140_1141C>CA	c.(1138-1143)gacaaafs	p.D380fs		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	380					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATGTTAGGGACAAAAAAAAGGG	0.347								Mismatch excision repair (MMR)				
PGGT1B	5229	broad.mit.edu	37	5	114552570	114552571	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:114552569_114552570A>AC	uc003kqw.4	-	7	965_966	c.944_945T>GT	c.(943-945)agtfs	p.S315fs	PGGT1B_uc010jch.3_Frame_Shift_Ins_p.S238fs	NM_005023	NP_005014	P53609	PGTB1_HUMAN	Homo sapiens protein geranylgeranyltransferase type I, beta subunit (PGGT1B), mRNA.	315					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	TACCTGGATGACTGTCTGGCCA	0.327												
NRG2	9542	broad.mit.edu	37	5	139422136	139422136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:139422135_139422135GC>G	uc003lev.2	-	0	750	c.520_520GC>C	c.(520-522)ctgfs	p.L174fs	NRG2_uc003lew.2_Frame_Shift_Del_p.L174fs|NRG2_uc003lex.2_Frame_Shift_Del_p.L174fs|NRG2_uc003ley.2_Frame_Shift_Del_p.L174fs|NRG2_uc021yed.1_Frame_Shift_Del_p.L174fs	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	174					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCTGCAGCCCCCCGCTC	0.662												
GALNT10	55568	broad.mit.edu	37	5	153789315	153789315	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr5:153789314_153789314TG>T	uc003lvh.3	+	8	1510	c.1378_1378TG>T	c.(1378-1380)tggfs	p.W460fs	GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Frame_Shift_Del_p.W301fs|FLJ38109_uc003lvi.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	460	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCAGCTTGGGGGGAGGT	0.532												
PRPF4B	8899	broad.mit.edu	37	6	4032412	4032412	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:4032411_4032411GA>G	uc003mvv.3	+	1	751	c.660_660GA>G	c.(658-660)aggfs	p.R220fs	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	220	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAAAGGAGAGGAAAAAATCTA	0.383												
JARID2	3720	broad.mit.edu	37	6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACTAAGGAGGTGGGGGGGCGG	0.667												
KLHDC3	116138	broad.mit.edu	37	6	42986249	42986249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:42986248_42986248TC>T	uc003otl.3	+	5	992	c.687_687TC>T	c.(685-687)tgtfs	p.C229fs	KLHDC3_uc003otn.3_Frame_Shift_Del_p.C113fs|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Frame_Shift_Del_p.C214fs|KLHDC3_uc003oto.3_Frame_Shift_Del_p.C170fs	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	229					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCTGGACTGTCCCCCGACTC	0.587												
KLHL31	401265	broad.mit.edu	37	6	53519759	53519760	+	Frame_Shift_Ins	INS	-	-	T	rs72352601		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:53519758_53519759C>CT	uc003pcb.4	-	1	453_454	c.312_313G>AG	c.(310-315)aaagacfs	p.K104fs		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	104	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ATTGACGGGTCTTTTTTTAGGA	0.421												
CD109	135228	broad.mit.edu	37	6	74492481	74492481	+	Splice_Site	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:74492480_74492480TA>T	uc003php.3	+	18	2536	c.2105_splice	c.e18+2	p.G702_splice	CD109_uc003phq.3_Splice_Site_p.G702_splice|CD109_uc010kba.3_Splice_Site_p.G625_splice	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	702	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAACATGGGGTAAAAATTTAT	0.348												
SGK1	6446	broad.mit.edu	37	6	134492026	134492028	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:134492025_134492027GAGA>G	uc003qen.4	-	10	1154_1156	c.1065_1067TCTC>C	c.(1063-1068)ttctcc>ttCc	p.S356del	SGK1_uc003qeo.4_In_Frame_Del_p.S451del|SGK1_uc011ect.2_In_Frame_Del_p.S346del|SGK1_uc011ecu.2_In_Frame_Del_p.S312del|SGK1_uc011ecv.2_In_Frame_Del_p.S370del|SGK1_uc011ecw.2_In_Frame_Del_p.S384del	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	356	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GTTAATTAAGGAGAAGAAGACAT	0.404												
BCLAF1	9774	broad.mit.edu	37	6	136597290	136597290	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:136597289_136597289AT>A	uc003qgx.1	-	4	1627	c.1374_1374AT>T	c.(1372-1374)aatfs	p.N458fs	BCLAF1_uc003qgy.1_Frame_Shift_Del_p.N456fs|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Frame_Shift_Del_p.N456fs|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	458					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TAAGTTTATAATTTTTTTCTT	0.358												
PDE10A	10846	broad.mit.edu	37	6	165844963	165844964	+	Splice_Site	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr6:165844962_165844963T>TA	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACAA	0.327												
TECPR1	25851	broad.mit.edu	37	7	97862827	97862828	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:97862826_97862827C>CA	uc003upg.3	-	10	1783_1784	c.1578_1579G>TG	c.(1576-1581)tatgggfs	p.Y526fs	TECPR1_uc003uph.1_Frame_Shift_Ins_p.Y456fs	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	526						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCATCCACCCCATACGGCTCCT	0.673												
PLOD3	8985	broad.mit.edu	37	7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-	rs138002558	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:100855926_100855926CG>C	uc003uyd.3	-	8	1346	c.890_890CG>G	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(2)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGG	0.642												
LEP	3952	broad.mit.edu	37	7	127894705	127894705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:127894704_127894704TG>T	uc003vml.2	+	2	449	c.392_392TG>T	c.(391-393)ctgfs	p.L131fs	LEP_uc003vmm.2_Frame_Shift_Del_p.L130fs	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	131					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						TTGGACAGCCTGGGGGGTGTC	0.627												
JHDM1D	80853	broad.mit.edu	37	7	139833448	139833448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr7:139833447_139833447CT>C	uc003vvm.3	-	2	294	c.290_290AG>G	c.(289-291)aggfs	p.R97fs		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	97	Linker.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CCAGTTCCTCCTTTTTTTCAC	0.338												
DLC1	10395	broad.mit.edu	37	8	12957359	12957359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:12957358_12957358AG>A	uc003wwm.2	-	8	2932	c.2488_2488CT>T	c.(2488-2490)tcgfs	p.S830fs	DLC1_uc003wwk.1_Frame_Shift_Del_p.S393fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.S427fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.S319fs	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	830					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTATTCCCCGAGGGGGAGAAA	0.577												
BMP1	649	broad.mit.edu	37	8	22067038	22067038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:22067037_22067037TG>T	uc003xbg.3	+	18	2921	c.2655_2655TG>T	c.(2653-2655)cctfs	p.P885fs	BMP1_uc011kzc.2_Frame_Shift_Del_p.P634fs|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	885	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACTACCCTGGGGGTGTGG	0.622												
PIWIL2	55124	broad.mit.edu	37	8	22175773	22175773	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:22175772_22175772TA>T	uc003xbn.2	+	19	2535	c.2387_2387TA>T	c.(2386-2388)ttafs	p.L796fs	PIWIL2_uc011kzf.1_Frame_Shift_Del_p.L796fs|PIWIL2_uc010ltv.2_Frame_Shift_Del_p.L796fs	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	796	Piwi.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTGGGCTCCTTAAAAAAGTTT	0.458												
FZD3	7976	broad.mit.edu	37	8	28385159	28385160	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:28385158_28385159A>AT	uc003xgx.3	+	4	1410_1411	c.881_882A>AT	c.(880-882)tatfs	p.Y294fs	FZD3_uc010lvb.3_Frame_Shift_Ins_p.Y294fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	294					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGATACTCTATTTTTTTACTA	0.421												
WHSC1L1	54904	broad.mit.edu	37	8	38187222	38187223	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38187221_38187222G>GT	uc003xli.3	-	5	1773_1774	c.1255_1256C>AC	c.(1255-1257)accfs	p.T419fs	WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Ins_p.T419fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAACT	0.431			T	NUP98	AML							
ADAM9	8754	broad.mit.edu	37	8	38961220	38961220	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:38961219_38961219AT>A	uc003xmr.3	+	21	2538	c.2460_2460AT>A	c.(2458-2460)tgafs	p.*820fs	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	0					PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCCTCACTTGATTTTTTTAAC	0.408												
CHRNB3	1142	broad.mit.edu	37	8	42587571	42587572	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:42587570_42587571G>GA	uc003xpi.1	+	4	1248_1249	c.1120_1121G>GA	c.(1120-1122)gaafs	p.E374fs		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	374					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAGTCCTCGAAAAAAAGAAA	0.391												
KIAA0146	23514	broad.mit.edu	37	8	48511720	48511721	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:48511719_48511720A>AG	uc003xqd.3	+	9	1567_1568	c.1505_1506A>AG	c.(1504-1506)cagfs	p.Q502fs	KIAA0146_uc011lda.2_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc011ldb.2_Frame_Shift_Ins_p.Q502fs|KIAA0146_uc010lxs.3_Intron|KIAA0146_uc011ldc.2_Frame_Shift_Ins_p.Q432fs|KIAA0146_uc011ldd.2_Frame_Shift_Ins_p.Q442fs|KIAA0146_uc003xqe.3_Intron|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc010lxt.3_Frame_Shift_Ins_p.Q191fs	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	502										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				AGGGGTCAGCAGGGGGCCAGCT	0.594												
PLAG1	5324	broad.mit.edu	37	8	57079754	57079754	+	Frame_Shift_Del	DEL	T	T	-	rs141930943		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:57079753_57079753CT>C	uc003xsq.4	-	2	1003	c.552_552AG>G	c.(550-552)aagfs	p.K184fs	PLAG1_uc003xsr.4_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyi.3_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyj.3_Frame_Shift_Del_p.K102fs|PLAG1_uc022aur.1_Frame_Shift_Del_p.K102fs	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	184	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CGCACTGGTGCTTTTTTTCTT	0.483			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma							
ARFGEF1	10565	broad.mit.edu	37	8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:68128855_68128856T>TG	uc003xxo.2	-	32	5045_5046	c.4655_4656A>CA	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421												
CA2	760	broad.mit.edu	37	8	86386635	86386635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:86386634_86386634AT>A	uc003ydk.2	+	3	613	c.433_433AT>A	c.(433-435)attfs	p.I145fs		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	145					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CGTTCTAGGTATTTTTTTGAA	0.388												
SPATC1	375686	broad.mit.edu	37	8	145095784	145095785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145095783_145095784G>GC	uc011lkw.2	+	2	1183_1184	c.1081_1082G>GC	c.(1081-1083)gccfs	p.A361fs	SPATC1_uc011lkx.2_Frame_Shift_Ins_p.A361fs	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	361										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCAGGGTGCCCCCCATCCC	0.658												
OPLAH	26873	broad.mit.edu	37	8	145109542	145109543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145109541_145109542T>TG	uc003zar.3	-	18	2690_2691	c.2608_2609A>CA	c.(2608-2610)cacfs	p.H870fs	OPLAH_uc003zas.1_Frame_Shift_Ins_p.P144fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	870							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CATGGTGGAGTGGGGGGGCATG	0.639												
KIFC2	90990	broad.mit.edu	37	8	145692659	145692659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr8:145692658_145692658AG>A	uc003zcz.3	+	3	468	c.403_403AG>A	c.(403-405)aggfs	p.R135fs	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	135					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCGAAGCCCCAGGGGGAGGCA	0.612											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GLIPR2	152007	broad.mit.edu	37	9	36147847	36147848	+	Frame_Shift_Ins	INS	-	-	C	rs60088684	byFrequency	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:36147846_36147847T>TC	uc003zyz.3	+	1	111_112	c.77_78T>TC	c.(76-78)gtcfs	p.V26fs	GLIPR2_uc011lpj.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc010mlf.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc003zyy.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc003zza.3_Non-coding_Transcript	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	Homo sapiens GLI pathogenesis-related 2 (GLIPR2), mRNA.	26						Golgi membrane|extracellular region		p.V26I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AAGCACGGCGTCCCCCCACTGA	0.540												
ZCCHC7	84186	broad.mit.edu	37	9	37126642	37126643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:37126641_37126642A>AG	uc003zzq.3	+	1	485_486	c.312_313A>AG	c.(310-315)aaaggafs	p.K104fs	ZCCHC7_uc011lqh.2_Intron|ZCCHC7_uc022bgu.1_Frame_Shift_Ins_p.K104fs|ZCCHC7_uc010mlt.3_Frame_Shift_Ins_p.K103fs|ZCCHC7_uc003zzs.1_Frame_Shift_Ins_p.K103fs	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	104							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATAGATGTAAAGGAAAGAATGT	0.386												
TDRD7	23424	broad.mit.edu	37	9	100234680	100234682	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:100234679_100234681CTTG>C	uc004axj.3	+	9	2071_2073	c.1846_1848CTTG>C	c.(1846-1848)ctt>C	p.L616del	TDRD7_uc011lux.2_In_Frame_Del_p.L542del|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_5'UTR	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	616					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGACATTCCACTTGTTGTTCTGT	0.429												
KIAA0368	23392	broad.mit.edu	37	9	114131416	114131416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:114131415_114131415AT>A	uc004bfe.1	-	46	5547	c.5547_5547AT>T	c.(5545-5547)aatfs	p.N1849fs		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCTCCTCTTCATTTTTGGTTG	0.438												
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACA	0.398												
LAMC3	10319	broad.mit.edu	37	9	133932467	133932467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:133932466_133932466AG>A	uc004caa.1	+	11	2188	c.2090_2090AG>A	c.(2089-2091)cagfs	p.Q697fs		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	697	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GAGATGCCACAGGGGGGTCCC	0.612												
TTF1	7270	broad.mit.edu	37	9	135277202	135277203	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:135277201_135277202C>CT	uc004cbl.3	-	1	1076_1077	c.1007_1008G>AG	c.(1006-1008)aagfs	p.K336fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	336	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCTT	0.510												
TTF1	7270	broad.mit.edu	37	9	135277373	135277374	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:135277372_135277373C>CT	uc004cbl.3	-	1	905_906	c.836_837G>AG	c.(835-837)aagfs	p.K279fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	279	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACTTTTTCTTCTTTTTTTTCTT	0.480												
RALGDS	5900	broad.mit.edu	37	9	135975666	135975667	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr9:135975665_135975666TGA>T	uc004cco.3	-	16	2578_2579	c.2558_2559TCA>A	c.(2557-2559)tcafs	p.S853fs	RALGDS_uc004ccn.3_Frame_Shift_Del_p.S41fs|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Frame_Shift_Del_p.S841fs|RALGDS_uc004ccr.3_Frame_Shift_Del_p.S852fs|RALGDS_uc011mcv.2_Frame_Shift_Del_p.S824fs|RALGDS_uc004ccs.3_Frame_Shift_Del_p.S798fs|RALGDS_uc011mcw.2_Frame_Shift_Del_p.S924fs|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	853	Ras-associating.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCCGGTCATCTGAGAGAATCTG	0.579			T	CIITA	"""PMBL, Hodgkin Lymphona, """							
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353												
AKR1E2	83592	broad.mit.edu	37	10	4889693	4889694	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:4889692_4889693CAA>C	uc001ihi.3	+	9	1048_1049	c.933_934CAA>C	c.(931-936)cacaaafs	p.H311fs	AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Frame_Shift_Del_p.H254fs|AKR1E2_uc009xhw.3_Frame_Shift_Del_p.H213fs	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	311						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTAAAAATCACAAAGACTATCC	0.342												
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527												
C10orf25	220979	broad.mit.edu	37	10	45496243	45496243	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:45496242_45496242TG>T	uc001jbv.2	-	0	229	c.66_66CA>A	c.(64-66)ccafs	p.P22fs	ZNF22_uc001jbw.3_5'Flank|ZNF22_uc021ppo.1_5'Flank	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN	Homo sapiens chromosome 10 open reading frame 25 (C10orf25), mRNA.	22						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						CCTTCCGAGTTGGGGGGAGGA	0.587												
MAPK8	5599	broad.mit.edu	37	10	49613019	49613020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:49613018_49613019C>CA	uc001jgp.3	+	1	295_296	c.246_247C>CA	c.(244-249)cacaaafs	p.H82fs	MAPK8_uc001jgn.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgm.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgo.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgq.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc009xoa.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc021ppy.1_Frame_Shift_Ins_p.H82fs|MAPK8_uc010qgk.2_Frame_Shift_Ins_p.H82fs	NM_139049	NP_620637	P45983	MK08_HUMAN	Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA.	82	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding	p.K83*(3)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GTGTTAATCACAAAAATGTAAG	0.332												
TET1	80312	broad.mit.edu	37	10	70446284	70446285	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:70446283_70446284C>CA	uc001jok.4	+	10	5728_5729	c.5223_5224C>CA	c.(5221-5226)cgcaaafs	p.R1741fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1741					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACCCCGCCGCAAAAAAAGAAC	0.490												
TIAL1	7073	broad.mit.edu	37	10	121338303	121338303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:121338302_121338302AC>A	uc001lei.1	-	6	1056	c.492_492GT>T	c.(490-492)ggtfs	p.G164fs	TIAL1_uc001leh.1_Frame_Shift_Del_p.G142fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.G181fs|TIAL1_uc001lek.1_Frame_Shift_Del_p.G41fs|TIAL1_uc010qtb.1_Frame_Shift_Del_p.G41fs	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	164	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TTTGACGACCACCCAACCACT	0.398												
PLEKHA1	59338	broad.mit.edu	37	10	124189146	124189146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr10:124189145_124189145TC>T	uc001lge.2	+	11	1155	c.906_906TC>T	c.(904-906)catfs	p.H302fs	PLEKHA1_uc001lgf.2_3'UTR|PLEKHA1_uc001lgg.2_Frame_Shift_Del_p.H302fs|PLEKHA1_uc021qae.1_5'Flank	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	302					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCAGGAGCATCCCCCCGGTC	0.502												
SPTY2D1	144108	broad.mit.edu	37	11	18638501	18638502	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:18638500_18638501C>CT	uc001moy.3	-	1	312_313	c.96_97G>AG	c.(94-99)aaagacfs	p.K32fs	SPTY2D1_uc010rdi.1_Frame_Shift_Ins_p.K32fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	32										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTTTTGGGTCTTTTTTTGGAG	0.347												
MED19	219541	broad.mit.edu	37	11	57472193	57472193	+	Splice_Site	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:57472192_57472192TG>T	uc001nla.1	-	3	593	c.571_splice	c.e3+1	p.E191_splice	MED19_uc001nlb.3_Splice_Site_p.G191_splice	NM_153450	NP_703151	A0JLT2	MED19_HUMAN	Homo sapiens mediator complex subunit 19 (MED19), mRNA.	191	Lys-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						GCTTCTTACCTGGGGGGACAG	0.418												
ARHGEF17	9828	broad.mit.edu	37	11	73021527	73021528	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:73021526_73021527G>GC	uc001otu.3	+	0	1864_1865	c.1843_1844G>GC	c.(1843-1845)gccfs	p.A615fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGAAGCGATGCCCCCCCTGGA	0.614												
SYTL2	54843	broad.mit.edu	37	11	85468672	85468673	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:85468671_85468672ACT>A	uc010rth.2	-	0	486_487	c.97_98AGT>T	c.(97-99)gtcfs	p.V33fs	SYTL2_uc010rtg.2_Frame_Shift_Del_p.V33fs|SYTL2_uc010rti.2_Frame_Shift_Del_p.V33fs|SYTL2_uc010rtj.2_Intron|SYTL2_uc001pbf.4_Frame_Shift_Del_p.V33fs	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	33	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCTTACCTGACTCTCTCTTCT	0.475												
EXPH5	23086	broad.mit.edu	37	11	108409862	108409862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:108409861_108409861CT>C	uc001pkk.3	-	2	444	c.333_333AG>G	c.(331-333)aagfs	p.K111fs	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	111					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGGTGTCGGCTTTTTTTGAT	0.353												
USP2	9099	broad.mit.edu	37	11	119243862	119243862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:119243861_119243861GC>G	uc001pwm.4	-	1	625	c.330_330GC>C	c.(328-330)ggcfs	p.G110fs	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	110	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGAATCCGCTGCCCCCGCTGA	0.627												
ROBO3	64221	broad.mit.edu	37	11	124748274	124748276	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr11:124748273_124748275ACCT>A	uc001qbc.3	+	21	3430_3432	c.3261_3263ACCT>A	c.(3259-3264)ccacct>ccAt	p.1087_1088PP>P	ROBO3_uc010saq.2_3'UTR|ROBO3_uc001qbd.2_In_Frame_Del_p.12_13PP>P|ROBO3_uc010sar.2_In_Frame_Del_p.136_137PP>P|ROBO3_uc001qbe.3_In_Frame_Del_p.12_13PP>P|ROBO3_uc001qbf.1_Intron	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1087					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCTGCCCCCACCTCCTCCTTCT	0.611												
LRRK2	120892	broad.mit.edu	37	12	40657647	40657648	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:40657646_40657647T>TA	uc001rmg.4	+	13	1720_1721	c.1599_1600T>TA	c.(1597-1602)gttaaafs	p.V533fs	LRRK2_uc001rmh.1_Frame_Shift_Ins_p.V155fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	533					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAATATGGTTAAAAAACAGTG	0.297												
DDN	23109	broad.mit.edu	37	12	49391527	49391529	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:49391526_49391528TCTC>T	uc001rsv.1	-	1	1149_1151	c.1131_1133GAGA>A	c.(1129-1134)ggagaa>ggAa	p.E378del		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	378	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCAGATCTGTTCTCCTTCTTTCC	0.631												
TROAP	10024	broad.mit.edu	37	12	49717805	49717805	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:49717804_49717804GC>G	uc009zlh.3	+	2	488	c.321_321GC>G	c.(319-321)gggfs	p.G107fs	TROAP_uc001rtv.3_Frame_Shift_Del_p.G107fs|TROAP_uc001rtw.4_Frame_Shift_Del_p.G107fs|TROAP_uc001rtx.4_Frame_Shift_Del_p.G107fs	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	107					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGGGCCTGGGCCCCCTGCCC	0.577												
LETMD1	25875	broad.mit.edu	37	12	51442249	51442249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:51442248_51442248TG>T	uc009zlw.3	+	0	167	c.109_109TG>T	c.(109-111)tggfs	p.W37fs	LETMD1_uc010smz.2_Frame_Shift_Del_p.W37fs|LETMD1_uc010sna.2_Frame_Shift_Del_p.W37fs|LETMD1_uc001rxm.3_Frame_Shift_Del_p.W37fs|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_Intron|LETMD1_uc001rxt.3_5'Flank	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	37	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TGGCCTGGCTTGGGGGGCCCC	0.587											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCBP2	5094	broad.mit.edu	37	12	53856278	53856278	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:53856277_53856277TC>T	uc001sdl.4	+	7	867	c.517_517TC>T	c.(517-519)tccfs	p.S173fs	PCBP2_uc001sde.4_Splice_Site_p.S169_splice|PCBP2_uc001sdi.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdd.4_Splice_Site_p.S169_splice|PCBP2_uc001sdf.4_Splice_Site_p.S169_splice|PCBP2_uc001sdc.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdb.4_Splice_Site_p.S169_splice|PCBP2_uc010soi.2_5'UTR|PCBP2_uc010soj.2_5'UTR|PCBP2_uc001sdk.4_Splice_Site|PCBP2_uc010soh.1_Splice_Site_p.S169_splice	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAA	0.498												
GDF11	10220	broad.mit.edu	37	12	56142524	56142524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:56142523_56142523TA>T	uc001shq.3	+	1	636	c.599_599TA>T	c.(598-600)ctafs	p.L200fs		NM_005811	NP_005802	O95390	GDF11_HUMAN	Homo sapiens growth differentiation factor 11 (GDF11), mRNA.	200					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						ATCTTGCGACTAAAACCCCTA	0.612												
SLC17A8	246213	broad.mit.edu	37	12	100774560	100774560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:100774559_100774559GC>G	uc010svi.2	+	1	495	c.182_182GC>G	c.(181-183)agcfs	p.S61fs	SLC17A8_uc009ztx.3_Frame_Shift_Del_p.S61fs	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	61					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCCAGGCCAAGCCCCCCACTC	0.527												
PXMP2	5827	broad.mit.edu	37	12	133277870	133277870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr12:133277869_133277869AG>A	uc001ukt.3	+	3	498	c.433_433AG>A	c.(433-435)aggfs	p.R145fs	PGAM5_uc010tbr.2_Non-coding_Transcript	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	145						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTT	0.612												
PABPC3	5042	broad.mit.edu	37	13	25670802	25670803	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:25670801_25670802T>TA	uc001upy.3	+	0	526_527	c.465_466T>TA	c.(463-468)attaaafs	p.I155fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	155	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGAGCTATTAAAAAAATGAA	0.396												
SLC46A3	283537	broad.mit.edu	37	13	29291959	29291959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:29291958_29291958CA>C	uc001usj.3	-	1	720	c.178_178TG>G	c.(178-180)gcafs	p.A60fs	SLC46A3_uc001usg.3_5'Flank|SLC46A3_uc001usi.3_Frame_Shift_Del_p.A60fs|SLC46A3_uc001ush.3_Frame_Shift_Del_p.A60fs|SLC46A3_uc001usk.3_5'Flank	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	60					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TCCTGGAATGCAAAAATTGGG	0.348												
SERPINE3	647174	broad.mit.edu	37	13	51922451	51922451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:51922450_51922450AC>A	uc001vfh.2	+	3	862	c.802_802AC>A	c.(802-804)accfs	p.T268fs	SERPINE3_uc010tgp.2_Frame_Shift_Del_p.T268fs	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	268					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TGACAAAGACACCCCCCTGAG	0.612												
TBC1D4	9882	broad.mit.edu	37	13	75869048	75869048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr13:75869047_75869047AG>A	uc001vjl.1	-	17	3606	c.3259_3259CT>T	c.(3259-3261)tggfs	p.W1087fs	TBC1D4_uc010tht.1_Frame_Shift_Del_p.W297fs|TBC1D4_uc010thu.1_Frame_Shift_Del_p.W244fs|TBC1D4_uc010aer.2_Frame_Shift_Del_p.W1079fs|TBC1D4_uc010aes.2_Frame_Shift_Del_p.W1024fs	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1087	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.P1086L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTGAGGAACCAGGGGGCAGCA	0.403												
NIN	51199	broad.mit.edu	37	14	51239111	51239113	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:51239110_51239112CAGG>C	uc001wyi.3	-	8	1079_1081	c.888_890CCTG>G	c.(886-891)tcctgc>tcGc	p.C297del	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_In_Frame_Del_p.C297del|NIN_uc001wyk.3_In_Frame_Del_p.C297del|NIN_uc001wyo.3_In_Frame_Del_p.C297del|NIN_uc001wyp.1_In_Frame_Del_p.C259del	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	297					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATCATCCAGGCAGGAGAAGACCC	0.522			T	PDGFRB	MPD							
NID2	22795	broad.mit.edu	37	14	52481919	52481919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:52481918_52481918CG>C	uc001wzo.3	-	14	3338	c.3104_3104CG>G	c.(3103-3105)cggfs	p.R1035fs	NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1035	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCC	0.627												
KCNH5	27133	broad.mit.edu	37	14	63473193	63473193	+	Splice_Site	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:63473192_63473192TG>T	uc001xfx.3	-	3	249	c.198_splice	c.e3-1	p.S66_splice	KCNH5_uc001xfy.3_Splice_Site_p.S66_splice|KCNH5_uc001xfz.1_Splice_Site_p.S8_splice|KCNH5_uc001xga.3_Splice_Site_p.S8_splice	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	66	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACATAAAACTGGGGGGGAAA	0.353												
RPS6KA5	9252	broad.mit.edu	37	14	91366489	91366489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr14:91366488_91366488CT>C	uc001xys.2	-	10	1558	c.1343_1343AG>G	c.(1342-1344)agtfs	p.S448fs	RPS6KA5_uc010twi.1_Frame_Shift_Del_p.S369fs|RPS6KA5_uc001xyt.3_Frame_Shift_Del_p.S448fs	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	448	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGCTTGGTTACTTTTTTTATG	0.323												
SLC12A1	6557	broad.mit.edu	37	15	48548096	48548096	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:48548095_48548095TA>T	uc001zwn.4	+	15	2246	c.2030_2030TA>T	c.(2029-2031)gtafs	p.V677fs	SLC12A1_uc010uew.1_Frame_Shift_Del_p.V483fs|SLC12A1_uc010bem.3_Frame_Shift_Del_p.V677fs|SLC12A1_uc001zwq.4_Frame_Shift_Del_p.V448fs|SLC12A1_uc001zwr.4_Frame_Shift_Del_p.V404fs	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	677					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAAGACCACGTAAAAAACTTC	0.458												
ZNF609	23060	broad.mit.edu	37	15	64967247	64967248	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr15:64967246_64967247C>CA	uc002ann.3	+	3	2193_2194	c.2193_2194C>CA	c.(2191-2196)gacaaafs	p.D731fs		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	731	Poly-Lys.					nucleus	zinc ion binding	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.490												
CLDN6	9074	broad.mit.edu	37	16	3065456	3065456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3065455_3065455AC>A	uc021tbb.1	-	0	568	c.568_568GT>T	c.(568-570)tccfs	p.S190fs	CLDN6_uc002csu.4_Frame_Shift_Del_p.S190fs	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	190					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.G189R(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCCTGGGACCCCCCCGAG	0.647												
ZNF434	54925	broad.mit.edu	37	16	3433515	3433516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:3433514_3433515A>AT	uc002cux.4	-	6	1687_1688	c.1428_1429T>AT	c.(1426-1431)ccatccfs	p.P476fs	ZNF434_uc010uwx.2_Frame_Shift_Ins_p.P188fs|ZNF434_uc002cuy.4_Frame_Shift_Ins_p.P188fs|ZNF434_uc002cuz.3_Frame_Shift_Ins_p.P265fs	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCCTGGGATGGGGTTTTCT	0.485												
ASPHD1	253982	broad.mit.edu	37	16	29912628	29912629	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:29912627_29912628C>CT	uc002dut.3	+	0	481_482	c.335_336C>CT	c.(334-336)gctfs	p.A112fs	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	112	Gly-rich.				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GGGAGCCGAGCTGGGGGTGTTC	0.688												
ZNF48	197407	broad.mit.edu	37	16	30409299	30409299	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:30409298_30409298CG>C	uc002dya.2	+	1	1103	c.727_727CG>C	c.(727-729)cggfs	p.R243fs	ZNF48_uc021tgi.1_Frame_Shift_Del_p.R243fs|ZNF48_uc021tgj.1_Frame_Shift_Del_p.R120fs|ZNF48_uc021tgk.1_Frame_Shift_Del_p.R243fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243W(2)|p.R243L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCA	0.647												
SF3B3	23450	broad.mit.edu	37	16	70599405	70599405	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:70599404_70599404GA>G	uc002ezf.3	+	19	3014	c.2803_2803GA>G	c.(2803-2805)gaafs	p.E935fs		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	935					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAACAATGGGGAAAAACTGGA	0.463												
CFDP1	10428	broad.mit.edu	37	16	75448501	75448501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr16:75448500_75448500CT>C	uc002fdy.3	-	1	295	c.158_158AG>G	c.(157-159)agafs	p.R53fs	CFDP1_uc002fdz.3_5'UTR|CFDP1_uc002fea.1_Frame_Shift_Del_p.R53fs	NM_006324	NP_006315	Q9UEE9	CFDP1_HUMAN	Homo sapiens craniofacial development protein 1 (CFDP1), mRNA.	53	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CTGGGCCTTTCTTTTTTTCCC	0.443												
SLC16A13	201232	broad.mit.edu	37	17	6939720	6939720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:6939719_6939719GC>G	uc002geh.3	+	0	326	c.18_18GC>G	c.(16-18)gagfs	p.E6fs		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	6						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GCAGGACAGAGCCCCCCGACG	0.672												
YBX2	51087	broad.mit.edu	37	17	7193637	7193637	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:7193636_7193636TG>T	uc002gfq.2	-	4	735	c.678_678CA>A	c.(676-678)ccafs	p.P226fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	226	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						AGAAGAAGGGTGGGGGGCACC	0.657												
AOC3	8639	broad.mit.edu	37	17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:41003596_41003597T>TG	uc002ibv.3	+	0	396_397	c.236_237T>TG	c.(235-237)ctgfs	p.L79fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	79					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACCCAGCGGCTGGGGCCAGGGC	0.658												
GPATCH8	23131	broad.mit.edu	37	17	42478368	42478368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:42478367_42478367CT>C	uc002igw.2	-	7	1297	c.1078_1078AG>G	c.(1078-1080)gagfs	p.E360fs	GPATCH8_uc002igv.2_Frame_Shift_Del_p.E282fs|GPATCH8_uc010wiz.2_Frame_Shift_Del_p.E282fs	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	360						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCTTCATCCTCTTTTTTACCA	0.468											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
XYLT2	64132	broad.mit.edu	37	17	48433967	48433968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:48433966_48433967A>AC	uc002iqo.3	+	7	1686_1687	c.1577_1578A>AC	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGCA	0.604												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
RNF43	54894	broad.mit.edu	37	17	56437531	56437531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:56437530_56437530AG>A	uc002iwf.3	-	6	2888	c.932_932CT>T	c.(931-933)ctcfs	p.L311fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.L270fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.L311fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.L311fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.L184fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	311						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAACATGCAGAGGGGGCAAGT	0.552												
PRR11	55771	broad.mit.edu	37	17	57271002	57271003	+	In_Frame_Ins	INS	-	-	TCC			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:57271001_57271002T>TTCC	uc002ixf.2	+	4	863_864	c.551_552T>TTCC	c.(550-552)ttt>tTTCC	p.F184F	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	184	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCCAGCCATTTtcctcctcctc	0.550												
SLC16A6	9120	broad.mit.edu	37	17	66270150	66270150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:66270149_66270149GC>G	uc002jha.2	-	3	608	c.295_295GC>C	c.(295-297)ctafs	p.L99fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Del_p.L99fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	99						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAAC	0.532												
KIAA0195	9772	broad.mit.edu	37	17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTCCGAGATCCCCCCCTCC	0.612												
ZBTB7C	201501	broad.mit.edu	37	18	45567085	45567085	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr18:45567084_45567084TC>T	uc010dnv.3	-	2	897	c.461_461GA>A	c.(460-462)gacfs	p.D154fs	ZBTB7C_uc002ldb.3_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnu.3_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dnw.3_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.D181fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.D140fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.D141fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	132	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding	p.E154K(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						ctcccccccgtcccccCCAGG	0.577												
PLIN4	729359	broad.mit.edu	37	19	4512150	4512150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:4512149_4512149GC>G	uc002mar.1	-	2	1781	c.1781_1781GC>C	c.(1780-1782)gcafs	p.A594fs	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	594	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GACATTCACTGCCCCCACGAG	0.597												
DNM2	1785	broad.mit.edu	37	19	10940882	10940883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:10940881_10940882G>GC	uc002mpt.2	+	19	2560_2561	c.2370_2371G>GC	c.(2368-2373)gggcccfs	p.G790fs	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Frame_Shift_Ins_p.G790fs|DNM2_uc010dxl.2_Frame_Shift_Ins_p.G790fs|DNM2_uc002mpu.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpv.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpw.3_Frame_Shift_Ins_p.G519fs|DNM2_uc002mpx.1_Frame_Shift_Ins_p.G146fs	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	790	Pro-rich.				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	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCACTCCAGGGCCCCCCCTGAT	0.693			"""F, N, Splice, Mis, O"""		ETP ALL							
CILP2	148113	broad.mit.edu	37	19	19656229	19656230	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:19656228_19656229A>AG	uc002nmw.4	+	7	2977_2978	c.2892_2893A>AG	c.(2890-2895)gcagggfs	p.A964fs	CILP2_uc002nmv.4_Frame_Shift_Ins_p.A958fs	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	958						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCCACAACGCAGGGGGCAGCCA	0.683												
MLL2	8085	broad.mit.edu	37	19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C	rs60207923	by1000genomes	TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
ZNF566	84924	broad.mit.edu	37	19	36940209	36940209	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:36940208_36940208GT>G	uc010xtf.2	-	4	1066	c.931_931AC>C	c.(931-933)cccfs	p.P311fs	ZNF566_uc002oea.4_Frame_Shift_Del_p.P310fs|ZNF566_uc010xte.2_Frame_Shift_Del_p.P310fs|ZNF566_uc002oeb.4_Frame_Shift_Del_p.P310fs|ZNF566_uc002oec.4_Frame_Shift_Del_p.P206fs|ZNF566_uc010xtg.2_Frame_Shift_Del_p.P206fs	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CATTCATAGGGTTTTTCCCCA	0.403												
PSG11	5680	broad.mit.edu	37	19	43530519	43530519	+	Frame_Shift_Del	DEL	C	C	-	rs145338245		TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:43530518_43530518GC>G	uc002ovm.1	-	0	114	c.7_7GC>C	c.(7-9)cccfs	p.P3fs	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Frame_Shift_Del_p.P3fs|PSG11_uc002ovo.1_Frame_Shift_Del_p.P3fs	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	3					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GCTGAGAGGGGCCCCATGATC	0.587												
PRR12	57479	broad.mit.edu	37	19	50099279	50099280	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:50099278_50099279TCA>T	uc002poo.4	+	3	1686_1687	c.1686_1687TCA>T	c.(1684-1689)tctcacfs	p.S562fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	330	Pro-rich.						DNA binding	p.S561S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCAGCCCATCTCACATCATTCG	0.678												
PTOV1	53635	broad.mit.edu	37	19	50363527	50363528	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:50363526_50363527T>TG	uc002pqf.1	+	11	1411_1412	c.1241_1242T>TG	c.(1240-1242)atgfs	p.M414fs	PTOV1_uc002pqb.4_Frame_Shift_Ins_p.W359fs|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	414	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.*417fs?(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCGCCGTAGATGGGGGGGTAGT	0.658												
KLK8	11202	broad.mit.edu	37	19	51503682	51503683	+	Splice_Site	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr19:51503681_51503682G>GT	uc002puq.1	-	3	551	c.365_splice	c.e3+1	p.P122_splice	KLK9_uc002puw.1_Splice_Site|KLK8_uc002pur.1_Splice_Site_p.P77_splice|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Splice_Site_p.P77_splice|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	77	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TCCACTCACGGTTTTTTACAGT	0.599												
PLK1S1	55857	broad.mit.edu	37	20	21143725	21143725	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:21143724_21143724GA>G	uc002wsb.3	+	5	1409	c.1276_1276GA>G	c.(1276-1278)gaafs	p.E426fs	PLK1S1_uc010zsh.2_Frame_Shift_Del_p.E323fs|PLK1S1_uc010zsi.2_Frame_Shift_Del_p.E293fs|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	426					spindle organization	centrosome	protein kinase binding										CCTATCCACTGAAAAAAATTG	0.408												
NXT1	29107	broad.mit.edu	37	20	23334926	23334927	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:23334925_23334926G>GA	uc021wbj.1	+	0	247_248	c.247_248G>GA	c.(247-249)gaafs	p.E83fs	NXT1_uc002wsx.1_Frame_Shift_Ins_p.E83fs	NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	Homo sapiens NTF2-like export factor 1 (NXT1), mRNA.	83	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTTCATGATGAAGCCACACCA	0.480												
SAMHD1	25939	broad.mit.edu	37	20	35521429	35521429	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:35521428_35521428CT>C	uc002xgh.2	-	15	1988	c.1788_1788AG>G	c.(1786-1788)aagfs	p.K596fs	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.2_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	596					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CGTTCCATTCCTTTTTTTGAG	0.418												
ZNFX1	57169	broad.mit.edu	37	20	47872465	47872466	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr20:47872464_47872465C>CT	uc002xui.3	-	8	2931_2932	c.2684_2685G>AG	c.(2683-2685)aagfs	p.K895fs		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	895							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTTCATTTTCTTTTTCTGGTT	0.520												
BRWD1	54014	broad.mit.edu	37	21	40570896	40570897	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:40570895_40570896G>GT	uc002yxk.2	-	39	5741_5742	c.5446_5447C>AC	c.(5446-5448)accfs	p.T1816fs	BRWD1_uc010goc.1_Frame_Shift_Ins_p.T459fs|BRWD1_uc021wjf.1_Frame_Shift_Ins_p.T1816fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T1816N(3)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAAG	0.386												
MCM3AP	8888	broad.mit.edu	37	21	47662805	47662806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr21:47662804_47662805T>TA	uc002zir.1	-	24	5373_5374	c.5337_5338A>TA	c.(5335-5340)tttaaafs	p.F1779fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Ins_p.F274fs|MCM3AP_uc002zip.1_Frame_Shift_Ins_p.F520fs|MCM3AP_uc002ziq.1_Frame_Shift_Ins_p.F706fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1779					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.K1780fs*5(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAATCGTTTTTAAAAAAATACA	0.436												
TRIOBP	11078	broad.mit.edu	37	22	38121789	38121790	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:38121788_38121789G>GC	uc003atr.3	+	6	3496_3497	c.3225_3226G>GC	c.(3223-3228)tcgcccfs	p.S1075fs	TRIOBP_uc003atu.3_Frame_Shift_Ins_p.S903fs|TRIOBP_uc003atq.1_Frame_Shift_Ins_p.S1075fs|TRIOBP_uc003ats.1_Frame_Shift_Ins_p.S903fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1075					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGCGTCCTCGCCCCCCCGCCA	0.653												
DDX17	10521	broad.mit.edu	37	22	38895455	38895455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chr22:38895454_38895454TC>T	uc003avy.4	-	2	592	c.489_489GA>A	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383												
MAGEB3	4114	broad.mit.edu	37	X	30254466	30254466	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:30254465_30254465CA>C	uc022bug.1	+	0	424	c.424_424CA>C	c.(424-426)caafs	p.Q142fs	MAGEB3_uc004dca.2_Frame_Shift_Del_p.Q142fs	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	142	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAAAATTGTCCAAAAAAGCCA	0.353												
MAGEB4	4115	broad.mit.edu	37	X	30260427	30260427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:30260426_30260426TC>T	uc004dcb.3	+	0	370	c.174_174TC>T	c.(172-174)attfs	p.I58fs	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	58										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CTTTTGGCATTCCCCAGGAGC	0.527												
ARAF	369	broad.mit.edu	37	X	47426094	47426094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:47426093_47426093GC>G	uc011mlp.2	+	6	807	c.613_613GC>G	c.(613-615)gccfs	p.A205fs	ARAF_uc011mln.2_Intron|ARAF_uc011mlo.2_Frame_Shift_Del_p.A71fs|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	205					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCCAGCCAATGCCCCCCTACA	0.632												
CCNB3	85417	broad.mit.edu	37	X	50028182	50028182	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:50028181_50028181AC>A	uc004dox.4	+	2	316	c.18_18AC>A	c.(16-18)ccafs	p.P6fs	CCNB3_uc004doy.3_Frame_Shift_Del_p.P6fs|CCNB3_uc004doz.3_Frame_Shift_Del_p.P6fs|CCNB3_uc010njq.3_5'UTR	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	6					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGCCACTACCACCCCAGAGCT	0.483												
IRS4	8471	broad.mit.edu	37	X	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545												
GPC4	2239	broad.mit.edu	37	X	132439923	132439923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8368-01A-11D-2340-08	TCGA-BR-8368-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165fd192-39c7-4c1d-8313-eb7fb6b129fa	3150c947-69a6-4b74-9fbd-fabef76e9a5f	g.chrX:132439922_132439922TG>T	uc004exc.1	-	5	1245	c.1033_1033CA>A	c.(1033-1035)aagfs	p.K345fs	GPC4_uc011mvg.1_Frame_Shift_Del_p.K275fs	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	345					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.K345fs*49(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGGAGGGGCTTGGGGGGTCCA	0.592												
