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
AGRN	375790	broad.mit.edu	37	1	980791	980791	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:980791C>T	uc001ack.1	+	14	2474	c.2424C>T	c.(2422-2424)GCC>GCT	p.A808A		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	808	Laminin EGF-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGACCCAGCCACAGGCCAGT	0.667												
HSPG2	3339	broad.mit.edu	37	1	22211066	22211066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:22211066G>A	uc001bfj.2	-	13	1649	c.1609C>T	c.(1609-1611)CGG>TGG	p.R537W	HSPG2_uc009vqd.2_Missense_Mutation_p.R538W	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	537					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATCTGGTCCCGGAAGCGGCGG	0.667												
OSCP1	127700	broad.mit.edu	37	1	36898072	36898072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:36898072G>A	uc001cap.2	-	4	498	c.416C>T	c.(415-417)TCC>TTC	p.S139F	OSCP1_uc001caq.2_Missense_Mutation_p.S129F|OSCP1_uc001car.2_Missense_Mutation_p.S129F	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	139					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4						GATGGTTGGGGAGTCTCGGAT	0.502												
PODN	127435	broad.mit.edu	37	1	53535676	53535676	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:53535676C>T	uc001cuv.2	+	2	300	c.293C>T	c.(292-294)CCG>CTG	p.P98L	PODN_uc001cuw.2_Missense_Mutation_p.P79L|PODN_uc010onr.1_Missense_Mutation_p.P79L|PODN_uc010ons.1_Missense_Mutation_p.P98L	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	50					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						GAGGAGGAGCCGGTGCTGGTA	0.672												
SGIP1	84251	broad.mit.edu	37	1	67195054	67195054	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:67195054A>C	uc001dcr.2	+	20	2067	c.1850A>C	c.(1849-1851)AAT>ACT	p.N617T	SGIP1_uc010opd.1_Missense_Mutation_p.N217T|SGIP1_uc001dcs.2_Missense_Mutation_p.N217T|SGIP1_uc001dct.2_Missense_Mutation_p.N219T|SGIP1_uc009wat.2_Missense_Mutation_p.N411T|SGIP1_uc001dcu.2_Missense_Mutation_p.N122T	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	617					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CGGGTGATAAATTTCAGCAGG	0.438												
LPHN2	23266	broad.mit.edu	37	1	82408687	82408687	+	Silent	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:82408687G>A	uc001dit.3	+	6	613	c.432G>A	c.(430-432)GTG>GTA	p.V144V	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.V144V|LPHN2_uc001div.2_Silent_p.V144V|LPHN2_uc009wcd.2_Silent_p.V144V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	144	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGCAATTGTGGACTCACCAT	0.408												
TTLL7	79739	broad.mit.edu	37	1	84373332	84373332	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:84373332C>T	uc001djc.2	-	16	2195	c.1799G>A	c.(1798-1800)CGT>CAT	p.R600H	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	600					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GCTGACTGAACGTCTTATGGA	0.433												
PRMT6	55170	broad.mit.edu	37	1	107599821	107599821	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:107599821C>A	uc010ous.1	+	1	555	c.484C>A	c.(484-486)CTG>ATG	p.L162M		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	162					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTACGGACTCCTGCACGAGTC	0.652												
SV2A	9900	broad.mit.edu	37	1	149885086	149885086	+	Missense_Mutation	SNP	G	G	A	rs144624887		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:149885086G>A	uc001etg.2	-	2	798	c.307C>T	c.(307-309)CGG>TGG	p.R103W	SV2A_uc001eth.2_Missense_Mutation_p.R103W	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	103	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACTCTGCCCGGGGAATGCCC	0.632												
HRNR	388697	broad.mit.edu	37	1	152193722	152193722	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:152193722C>T	uc001ezt.1	-	3	459	c.383G>A	c.(382-384)AGT>AAT	p.S128N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	128	1.				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)			ACTTGAATGACTAAAAGAGGA	0.428												
SMG5	23381	broad.mit.edu	37	1	156236063	156236063	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:156236063C>T	uc001foc.3	-	12	1513	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H	SMG5_uc009wrv.2_5'UTR	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	455					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					ACAGGAGAGGCGAGAGAACTT	0.582												
OR10J3	441911	broad.mit.edu	37	1	159283850	159283850	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:159283850G>T	uc010piu.1	-	1	600	c.600C>A	c.(598-600)AAC>AAA	p.N200K		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					TGACAACAAAGTTGATTATCT	0.473												
DUSP27	92235	broad.mit.edu	37	1	167088640	167088640	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:167088640G>T	uc001geb.1	+	4	592	c.592G>T	c.(592-594)GAC>TAC	p.D198Y		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	198					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TCCTGAGGTGGACATTTCCCA	0.572												
KIFAP3	22920	broad.mit.edu	37	1	170007467	170007467	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:170007467G>A	uc001ggv.2	-	5	752	c.481C>T	c.(481-483)CGA>TGA	p.R161*	KIFAP3_uc010ply.1_Nonsense_Mutation_p.R83*|KIFAP3_uc001ggw.1_Nonsense_Mutation_p.R117*	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	161					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAGGATTTCGAGCAAGCTGC	0.308												
SLC9A11	284525	broad.mit.edu	37	1	173550993	173550993	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:173550993G>C	uc001giz.2	-	7	1218	c.795C>G	c.(793-795)TTC>TTG	p.F265L	SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	265	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						TACCAATATAGAAAGTCATGT	0.318												
FAM5C	339479	broad.mit.edu	37	1	190067604	190067604	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:190067604C>T	uc001gse.1	-	8	2077	c.1845G>A	c.(1843-1845)GGG>GGA	p.G615G	FAM5C_uc010pot.1_Silent_p.G513G	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	615						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TCCATTTGTTCCCCAGAGTTA	0.443												
CHI3L1	1116	broad.mit.edu	37	1	203148899	203148899	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:203148899A>G	uc001gzi.2	-	9	1172	c.1001T>C	c.(1000-1002)GTC>GCC	p.V334A	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Missense_Mutation_p.V70A|CHI3L1_uc001gzj.2_Missense_Mutation_p.V273A|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	334					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1						CTTGCTTTTGACGCTTTCCTG	0.587												
DISP1	84976	broad.mit.edu	37	1	223164006	223164006	+	Silent	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:223164006G>A	uc001hnu.1	+	4	726	c.579G>A	c.(577-579)TTG>TTA	p.L193L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	193	Helical; (Potential).				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TGGTGGTCTTGGGCATGTGCA	0.478												
TP53BP2	7159	broad.mit.edu	37	1	223983962	223983962	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:223983962T>C	uc010pvb.1	-	13	2571	c.2279A>G	c.(2278-2280)TAT>TGT	p.Y760C	TP53BP2_uc001hod.2_Missense_Mutation_p.Y631C|TP53BP2_uc010puz.1_Translation_Start_Site|TP53BP2_uc010pva.1_Missense_Mutation_p.Y399C	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	754					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)		GGTCCTCTGATATAAAAGCTT	0.468												
ACTN2	88	broad.mit.edu	37	1	236911005	236911005	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:236911005G>A	uc001hyf.2	+	13	1649	c.1445G>A	c.(1444-1446)CGG>CAG	p.R482Q	ACTN2_uc001hyg.2_Missense_Mutation_p.R274Q|ACTN2_uc009xgi.1_Missense_Mutation_p.R482Q|ACTN2_uc010pxu.1_Missense_Mutation_p.R171Q|ACTN2_uc001hyh.2_Missense_Mutation_p.R170Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	482	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTCAATGATCGGTGCCAGAAA	0.418												
OR2M7	391196	broad.mit.edu	37	1	248487101	248487101	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:248487101A>G	uc010pzk.1	-	1	770	c.770T>C	c.(769-771)TTC>TCC	p.F257S		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	257	Helical; Name=6; (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)			AATGCACATGAACAAACCTGC	0.468												
CUBN	8029	broad.mit.edu	37	10	17026238	17026238	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:17026238T>C	uc001ioo.2	-	30	4443	c.4391A>G	c.(4390-4392)CAA>CGA	p.Q1464R		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1464	CUB 9.				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)	GGTACACAGTTGGGCTATTCT	0.448												
ANKRD30A	91074	broad.mit.edu	37	10	37505290	37505290	+	Silent	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:37505290A>G	uc001iza.1	+	32	2982	c.2883A>G	c.(2881-2883)AAA>AAG	p.K961K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1017	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AGAACCAAAAAGTTAAATGGG	0.308												
C10orf71	118461	broad.mit.edu	37	10	50532585	50532585	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:50532585C>T	uc010qgp.1	+	3	2334	c.1995C>T	c.(1993-1995)ACC>ACT	p.T665T		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	665											0						AAATGAAGACCCACCAGCTAG	0.532												
SMC3	9126	broad.mit.edu	37	10	112328746	112328746	+	Silent	SNP	C	C	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:112328746C>G	uc001kze.2	+	2	192	c.66C>G	c.(64-66)CCC>CCG	p.P22P		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	22					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)		TTGTAGATCCCTTCAGTTCAA	0.318												
ADRB1	153	broad.mit.edu	37	10	115804636	115804636	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:115804636C>T	uc001lba.2	+	1	831	c.745C>T	c.(745-747)CGC>TGC	p.R249C		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	249	Cytoplasmic (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCGGGTGTTCCGCGAGGCCCA	0.547												
ABLIM1	3983	broad.mit.edu	37	10	116225532	116225532	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:116225532T>C	uc010qsg.1	-	12	1465	c.1366A>G	c.(1366-1368)ATC>GTC	p.I456V	ABLIM1_uc010qsh.1_Missense_Mutation_p.I424V|ABLIM1_uc010qsi.1_Missense_Mutation_p.I396V|ABLIM1_uc010qsk.1_Missense_Mutation_p.I380V|ABLIM1_uc009xyp.2_Missense_Mutation_p.I418V|ABLIM1_uc010qsf.1_Missense_Mutation_p.I168V|ABLIM1_uc009xyn.2_Missense_Mutation_p.I107V|ABLIM1_uc010qsj.1_Missense_Mutation_p.I133V|ABLIM1_uc009xyo.2_Missense_Mutation_p.I304V	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	456					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)		GGGGAGTTGATGGAGCCCTGG	0.552												
KCNK18	338567	broad.mit.edu	37	10	118957007	118957007	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr10:118957007T>G	uc010qsr.1	+	1	8	c.8T>G	c.(7-9)GTC>GGC	p.V3G		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	3	Cytoplasmic (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		ACGATGGAGGTCTCGGGGCAC	0.637												
OR51F2	119694	broad.mit.edu	37	11	4842656	4842656	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:4842656C>T	uc010qyn.1	+	1	41	c.41C>T	c.(40-42)TCG>TTG	p.S14L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S14S(1)		ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCCTATGTCGGTCCTCAAT	0.438												
TMEM86A	144110	broad.mit.edu	37	11	18722659	18722659	+	Silent	SNP	C	C	T	rs145862476		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:18722659C>T	uc001moz.1	+	2	284	c.201C>T	c.(199-201)AGC>AGT	p.S67S		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	67						integral to membrane				ovary(1)	1						CCCACCCCAGCGCCACCCGCA	0.597												
ARFGAP2	84364	broad.mit.edu	37	11	47198097	47198097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:47198097C>T	uc001ndt.2	-	2	176	c.161G>A	c.(160-162)CGC>CAC	p.R54H	ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.R54H|ARFGAP2_uc001ndu.2_Missense_Mutation_p.R54H|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.R54H|ARFGAP2_uc001ndv.1_Missense_Mutation_p.R54H	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	54	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						GCCCAGGGAGCGGTGCACCCC	0.632												
OR8H2	390151	broad.mit.edu	37	11	55873412	55873412	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:55873412A>C	uc010riy.1	+	1	894	c.894A>C	c.(892-894)AAA>AAC	p.K298N		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					AAGAGGTGAAAAATGCTGTCA	0.373										HNSCC(53;0.14)		
SLC22A25	387601	broad.mit.edu	37	11	62933530	62933530	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:62933530A>G	uc001nwr.1	-	7	1271	c.1271T>C	c.(1270-1272)ATA>ACA	p.I424T	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	424	Helical; Name=9; (Potential).				transmembrane transport	integral to membrane				ovary(3)|skin(1)	4						AGGCACAAATATGATGGCCAG	0.488												
PDGFD	80310	broad.mit.edu	37	11	103870925	103870925	+	Silent	SNP	G	G	A	rs148454316	byFrequency	TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:103870925G>A	uc001phq.2	-	2	555	c.183C>T	c.(181-183)AAC>AAT	p.N61N	PDGFD_uc001php.2_Silent_p.N55N	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	61	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCACGTAGCCGTTTCCTTTCA	0.488												
NLRX1	79671	broad.mit.edu	37	11	119052817	119052817	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:119052817C>T	uc001pvu.2	+	9	2584	c.2369C>T	c.(2368-2370)CCG>CTG	p.P790L	NLRX1_uc001pvv.2_Missense_Mutation_p.P790L|NLRX1_uc001pvw.2_Missense_Mutation_p.P790L|NLRX1_uc001pvx.2_Missense_Mutation_p.P790L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	790	Required for the repression of MAVS- induced interferon signaling.|LRR 4.				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)		TCCAACAACCCGCTGACGGCG	0.622												
ARHGEF12	23365	broad.mit.edu	37	11	120335951	120335951	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr11:120335951C>T	uc001pxl.1	+	28	2626	c.2619C>T	c.(2617-2619)AGC>AGT	p.S873S	ARHGEF12_uc009zat.2_Silent_p.S854S|ARHGEF12_uc010rzn.1_Silent_p.S770S|ARHGEF12_uc009zau.1_Silent_p.S770S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	873	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CACAGTTCAGCGGACCAGGAG	0.423			T	MLL	AML							
TULP3	7289	broad.mit.edu	37	12	3040238	3040238	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:3040238A>T	uc010seh.1	+	6	609	c.528A>T	c.(526-528)CAA>CAT	p.Q176H	TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.Q176H|TULP3_uc010sei.1_Missense_Mutation_p.Q33H	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	176				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGCCGCCCAACCAGCTGATA	0.493												
VWF	7450	broad.mit.edu	37	12	6161886	6161886	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:6161886C>T	uc001qnn.1	-	16	2259	c.2009G>A	c.(2008-2010)CGC>CAC	p.R670H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	670	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AGAGAGAGAGCGGCAGGTCAG	0.617												
ADAMTS20	80070	broad.mit.edu	37	12	43822058	43822058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:43822058C>T	uc010skx.1	-	26	3931	c.3931G>A	c.(3931-3933)GGA>AGA	p.G1311R	ADAMTS20_uc001rno.1_Missense_Mutation_p.G429R|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G465R	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1311	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCCATGGTCCGGTTCTCCAC	0.353												
IKZF4	64375	broad.mit.edu	37	12	56428541	56428541	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:56428541T>C	uc001sjb.1	+	9	1343	c.1184T>C	c.(1183-1185)CTC>CCC	p.L395P	IKZF4_uc010sqa.1_Missense_Mutation_p.L348P|IKZF4_uc001sjc.1_Missense_Mutation_p.L395P|IKZF4_uc001sjd.1_Missense_Mutation_p.L293P|IKZF4_uc009zoi.1_Missense_Mutation_p.L350P|IKZF4_uc001sje.1_Missense_Mutation_p.L354P	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	395					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATCTCAGAACTCACGCCTGTC	0.602												
AGAP2	116986	broad.mit.edu	37	12	58125727	58125727	+	Silent	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:58125727G>A	uc001spq.2	-	8	1818	c.1818C>T	c.(1816-1818)AGC>AGT	p.S606S	AGAP2_uc001spp.2_Silent_p.S606S|AGAP2_uc001spr.2_Silent_p.S270S	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	606					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						AAGAGTAGTCGCTAGTGTGGC	0.597												
GRIP1	23426	broad.mit.edu	37	12	66742840	66742840	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:66742840C>T	uc001stk.2	-	24	3431	c.3190G>A	c.(3190-3192)GGT>AGT	p.G1064S	GRIP1_uc001stj.2_Missense_Mutation_p.G831S	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1116					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)		AAATTACCACCGTGGCTAGGC	0.413												
XPO4	64328	broad.mit.edu	37	13	21357924	21357924	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr13:21357924C>A	uc001unq.3	-	23	3429	c.3393G>T	c.(3391-3393)ATG>ATT	p.M1131I		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	1131					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)		TTAAGAAGGCCATCTTCTGCT	0.413												
OLFM4	10562	broad.mit.edu	37	13	53624159	53624159	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr13:53624159C>T	uc001vhl.2	+	5	786	c.786C>T	c.(784-786)CTC>CTT	p.L262L	OLFM4_uc001vhk.1_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	262	Olfactomedin-like.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGGTTCAGCTCAACTGGAGAG	0.443												
F7	2155	broad.mit.edu	37	13	113761182	113761182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr13:113761182G>A	uc001vsv.2	+	2	139	c.88G>A	c.(88-90)GGA>AGA	p.G30R	F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	30					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	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;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGCCTCAGGAGGAGAAACACG	0.657												
CYP46A1	10858	broad.mit.edu	37	14	100165870	100165870	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr14:100165870G>C	uc001ygo.2	+	4	350	c.350G>C	c.(349-351)GGT>GCT	p.G117A	CYP46A1_uc001ygn.1_Missense_Mutation_p.G79A	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	117					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				ACTGTGTTTGGTGAGAGGTAA	0.522												
YY1	7528	broad.mit.edu	37	14	100743827	100743827	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr14:100743827G>A	uc001ygy.1	+	5	1615	c.1135G>A	c.(1135-1137)GGA>AGA	p.G379R	uc001ygz.1_5'Flank	NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	379	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				AATCCATACCGGAGACAGGCC	0.468												
OR4M2	390538	broad.mit.edu	37	15	22369460	22369460	+	Silent	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:22369460A>G	uc010tzu.1	+	1	885	c.885A>G	c.(883-885)GAA>GAG	p.E295E	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GAAACAAGGAAGTAAAGGCAG	0.353												
NDN	4692	broad.mit.edu	37	15	23931667	23931667	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:23931667T>G	uc001ywk.2	-	1	784	c.698A>C	c.(697-699)AAG>ACG	p.K233T		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	233	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTGATGAGCTTCCGCACGTC	0.632									Prader-Willi_syndrome			
DUOX2	50506	broad.mit.edu	37	15	45386811	45386811	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:45386811G>A	uc010bea.2	-	33	4677	c.4474C>T	c.(4474-4476)CGT>TGT	p.R1492C	DUOX2_uc001zun.2_Missense_Mutation_p.R1492C	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1492	Cytoplasmic (Potential).				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)		AAGGGGGGACGGCCAAAGTGG	0.637												
DTWD1	56986	broad.mit.edu	37	15	49924413	49924413	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:49924413G>T	uc001zxq.2	+	4	599	c.322G>T	c.(322-324)GCT>TCT	p.A108S	DTWD1_uc001zxs.2_Missense_Mutation_p.A108S|DTWD1_uc001zxr.2_Missense_Mutation_p.A21S|DTWD1_uc001zxo.2_Missense_Mutation_p.A108S	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	108											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		CAAAAGTACTGCTATACATGC	0.219												
SEMA7A	8482	broad.mit.edu	37	15	74709712	74709712	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr15:74709712C>T	uc002axv.2	-	6	665	c.625G>A	c.(625-627)GAG>AAG	p.E209K	SEMA7A_uc010ulk.1_Missense_Mutation_p.E44K|SEMA7A_uc010ull.1_Missense_Mutation_p.E195K	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	209	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						AGCTCACTCTCGCCCCGGATG	0.592												
IGFALS	3483	broad.mit.edu	37	16	1841399	1841399	+	Silent	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:1841399A>G	uc002cmy.2	-	2	1101	c.1020T>C	c.(1018-1020)CTT>CTC	p.L340L	IGFALS_uc010uvn.1_Silent_p.L378L|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	340	LRR 12.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						TGAGCACCTCAAGCTGCCCCA	0.642												
PKMYT1	9088	broad.mit.edu	37	16	3025809	3025809	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:3025809C>T	uc002csn.2	-	4	826	c.383G>A	c.(382-384)CGC>CAC	p.R128H	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.R128H|PKMYT1_uc002cso.2_Missense_Mutation_p.R59H|PKMYT1_uc002csp.2_Missense_Mutation_p.R119H|PKMYT1_uc002csq.2_Missense_Mutation_p.R119H|PKMYT1_uc010bsy.1_Missense_Mutation_p.R119H	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	128	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1						CTCCTTGGAGCGCACCTGGAA	0.627												
ABCC1	4363	broad.mit.edu	37	16	16225674	16225674	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:16225674C>T	uc010bvi.2	+	27	4023	c.3848C>T	c.(3847-3849)CCG>CTG	p.P1283L	ABCC1_uc010bvj.2_Missense_Mutation_p.P1224L|ABCC1_uc010bvk.2_Missense_Mutation_p.P1227L|ABCC1_uc010bvl.2_Missense_Mutation_p.P1283L|ABCC1_uc010bvm.2_Missense_Mutation_p.P1168L|ABCC1_uc002del.3_Missense_Mutation_p.P1177L	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1283	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGACAGCTCCGCCCAGCAGC	0.587												
SBK1	388228	broad.mit.edu	37	16	28330503	28330503	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:28330503C>T	uc002dpd.2	+	3	1203	c.414C>T	c.(412-414)GAC>GAT	p.D138D		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	138	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						ACCTGTTTGACATCATCCCTC	0.547												
SETD1A	9739	broad.mit.edu	37	16	30976945	30976945	+	Silent	SNP	C	C	T	rs146323096		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:30976945C>T	uc002ead.1	+	8	2429	c.1743C>T	c.(1741-1743)GAC>GAT	p.D581D		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	581	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CTTCTGGAGACGACATGGAGA	0.562												
TMCO7	79613	broad.mit.edu	37	16	68961816	68961816	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr16:68961816A>G	uc002ewi.3	+	13	2485	c.2473A>G	c.(2473-2475)ACT>GCT	p.T825A		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	825						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TGAGCCCAGCACTACTACAAG	0.507												
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:7577129A>G	uc002gim.2	-	8	1003	c.809T>C	c.(808-810)TTT>TCT	p.F270S	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138S|TP53_uc010cng.1_Missense_Mutation_p.F138S|TP53_uc002gii.1_Missense_Mutation_p.F138S|TP53_uc010cnh.1_Missense_Mutation_p.F270S|TP53_uc010cni.1_Missense_Mutation_p.F270S|TP53_uc002gij.2_Missense_Mutation_p.F270S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	270	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCACCTCAAAGCTGTTCCG	0.537		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYO15A	51168	broad.mit.edu	37	17	18065937	18065937	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:18065937T>G	uc010vxh.1	+	57	9894	c.9556T>G	c.(9556-9558)TTG>GTG	p.L3186V	MYO15A_uc010vxi.1_Missense_Mutation_p.L450V|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_Missense_Mutation_p.L175V|MYO15A_uc002gsl.2_Missense_Mutation_p.L193V|MYO15A_uc010vxm.1_Missense_Mutation_p.L108V|MYO15A_uc002gsm.1_Missense_Mutation_p.L108V|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3186	Tail.|MyTH4 2.				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)					GCAGAAAACCTTGCGCTTCGG	0.582												
NLK	51701	broad.mit.edu	37	17	26495496	26495496	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:26495496G>A	uc010crj.2	+	6	1072	c.860G>A	c.(859-861)AGA>AAA	p.R287K	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	287	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)		GGATTGGCCAGAGTGGAAGAA	0.368												
PIGS	94005	broad.mit.edu	37	17	26888484	26888484	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:26888484T>G	uc002hbo.2	-	6	1005	c.632A>C	c.(631-633)GAC>GCC	p.D211A	PIGS_uc002hbn.2_Missense_Mutation_p.D203A|PIGS_uc010wap.1_Missense_Mutation_p.D150A	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	211	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					GCTCCACTTGTCCTCTGGAAG	0.577												
PNMT	5409	broad.mit.edu	37	17	37826527	37826527	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:37826527G>A	uc002hsi.1	+	3	956	c.734G>A	c.(733-735)CGT>CAT	p.R245H		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	245					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCCTGGTGCGTAGTGGCTAC	0.637												
KRT13	3860	broad.mit.edu	37	17	39661551	39661551	+	Silent	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:39661551A>G	uc002hwu.1	-	1	315	c.252T>C	c.(250-252)GGT>GGC	p.G84G	KRT13_uc002hwv.1_Silent_p.G84G|KRT13_uc002hww.2_Intron|KRT13_uc010wfr.1_Intron|KRT13_uc010cxo.2_Silent_p.G84G|KRT13_uc002hwx.1_Silent_p.G72G	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	84	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				caccagcaaaacccccaccaa	0.164												
MPP3	4356	broad.mit.edu	37	17	41886367	41886367	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:41886367G>A	uc002iei.3	-	19	1704	c.1538C>T	c.(1537-1539)ACG>ATG	p.T513M	MPP3_uc002ieh.2_Missense_Mutation_p.T538M|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	513	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)		CATAGGTGGCGTTTTTCTTTT	0.408												
ENPP7	339221	broad.mit.edu	37	17	77708918	77708918	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:77708918A>G	uc002jxa.2	+	3	496	c.476A>G	c.(475-477)AAA>AGA	p.K159R		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	159					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGAGCCGGAAAGAAGGCATC	0.587												
DLGAP1	9229	broad.mit.edu	37	18	3534395	3534395	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr18:3534395G>A	uc002kmf.2	-	7	2343	c.2276C>T	c.(2275-2277)ACG>ATG	p.T759M	DLGAP1_uc010wyz.1_Missense_Mutation_p.T759M|DLGAP1_uc002kme.1_Missense_Mutation_p.T457M|DLGAP1_uc010dkn.2_Missense_Mutation_p.T467M|DLGAP1_uc010wyw.1_Missense_Mutation_p.T465M|DLGAP1_uc010wyx.1_Missense_Mutation_p.T481M|DLGAP1_uc010wyy.1_Missense_Mutation_p.T443M|DLGAP1_uc002kmg.2_Missense_Mutation_p.T457M	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	759					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GTCAAAATCCGTGTCAAAGTC	0.567												
DCC	1630	broad.mit.edu	37	18	51013269	51013269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr18:51013269G>A	uc002lfe.1	+	26	4426	c.3839G>A	c.(3838-3840)CGG>CAG	p.R1280Q	DCC_uc010dpf.1_Missense_Mutation_p.R915Q	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1280	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCACTCTCCGGCCTGTGCCA	0.532												
RDH8	50700	broad.mit.edu	37	19	10132337	10132337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:10132337G>A	uc002mmr.2	+	6	1097	c.848G>A	c.(847-849)CGC>CAC	p.R283H		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	283					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ACGACCCACCGCCTCCTCTTC	0.632												
EPHX3	79852	broad.mit.edu	37	19	15341777	15341777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:15341777G>T	uc002nap.2	-	4	821	c.612C>A	c.(610-612)TAC>TAA	p.Y204*	EPHX3_uc002naq.2_Nonsense_Mutation_p.Y204*	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	204						extracellular region	hydrolase activity				0						ACACACCTTGGTACACCGACA	0.552												
CPAMD8	27151	broad.mit.edu	37	19	17014389	17014389	+	Silent	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:17014389G>A	uc002nfb.2	-	34	4625	c.4593C>T	c.(4591-4593)GAC>GAT	p.D1531D	CPAMD8_uc002nfd.1_Translation_Start_Site	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1484						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GGCAGCAGCCGTCCCCCTTGG	0.617												
CATSPERG	57828	broad.mit.edu	37	19	38851464	38851464	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:38851464T>C	uc002oih.3	+	16	1948	c.1861T>C	c.(1861-1863)TAT>CAT	p.Y621H	CATSPERG_uc002oig.3_Missense_Mutation_p.Y581H|CATSPERG_uc002oif.3_Missense_Mutation_p.Y261H|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	621	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						CACCAGCCACTATGACTTGGA	0.448												
ARHGEF1	9138	broad.mit.edu	37	19	42397364	42397364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:42397364G>A	uc002orx.2	+	8	743	c.634G>A	c.(634-636)GAA>AAA	p.E212K	ARHGEF1_uc002orw.1_Missense_Mutation_p.E212K|ARHGEF1_uc002ory.2_Missense_Mutation_p.E179K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E50K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E227K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E194K|ARHGEF1_uc002osc.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	212	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTCTACCGACGAAGAAAAGAG	0.279												
MYBPC2	4606	broad.mit.edu	37	19	50958492	50958492	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:50958492C>T	uc002psf.2	+	19	2193	c.2142C>T	c.(2140-2142)TTC>TTT	p.F714F		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	714	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGCGTGTCTTCGCCGTCAATG	0.493												
NLRP8	126205	broad.mit.edu	37	19	56490859	56490859	+	Silent	SNP	G	G	A	rs111647316		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr19:56490859G>A	uc002qmh.2	+	9	3047	c.2976G>A	c.(2974-2976)GCG>GCA	p.A992A	NLRP8_uc010etg.2_Silent_p.A973A	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	992	LRR 6.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCAAGAATGCGATTGGAGTCT	0.498												
SNTG2	54221	broad.mit.edu	37	2	1094065	1094065	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:1094065C>T	uc002qwq.2	+	4	422	c.294C>T	c.(292-294)GTC>GTT	p.V98V	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	98	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACGTCCCTGTCGTCATATCAA	0.383												
GREB1	9687	broad.mit.edu	37	2	11755365	11755365	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:11755365G>T	uc002rbk.1	+	20	3571	c.3271G>T	c.(3271-3273)GCT>TCT	p.A1091S	GREB1_uc002rbp.1_Missense_Mutation_p.A89S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1091						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)		GGAGAGTGATGCTGAGAAGCT	0.582												
DDX1	1653	broad.mit.edu	37	2	15769793	15769793	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:15769793G>T	uc002rce.2	+	24	2231	c.1943G>T	c.(1942-1944)GGC>GTC	p.G648V		NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	648	Helicase C-terminal.|Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GAAGATGGAGGCTGTACCATA	0.348												
FBXO11	80204	broad.mit.edu	37	2	48035360	48035360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:48035360G>A	uc010fbl.2	-	23	2543	c.2429C>T	c.(2428-2430)ACA>ATA	p.T810I	FBXO11_uc002rwe.2_Missense_Mutation_p.T810I|FBXO11_uc010fbk.2_Missense_Mutation_p.T318I	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	894	UBR-type.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTAGACAGTGTTCCAGCACC	0.393												
IL1R2	7850	broad.mit.edu	37	2	102626041	102626041	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:102626041C>T	uc002tbm.2	+	3	314	c.85C>T	c.(85-87)CGG>TGG	p.R29W	IL1R2_uc002tbn.2_Missense_Mutation_p.R29W|IL1R2_uc002tbo.1_Missense_Mutation_p.R29W	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	29	Extracellular (Potential).|Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	CAGAAGCTGCCGGTTTCGTGG	0.597												
ZEB2	9839	broad.mit.edu	37	2	145162441	145162441	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:145162441C>T	uc002tvu.2	-	5	1034	c.554G>A	c.(553-555)CGC>CAC	p.R185H	ZEB2_uc002tvv.2_Missense_Mutation_p.R179H|ZEB2_uc010zbm.1_Missense_Mutation_p.R156H|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.R214H	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	185						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGTGCCAAGGCGAGACAGCTC	0.507												
SCN1A	6323	broad.mit.edu	37	2	166854619	166854619	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:166854619A>G	uc010zcz.1	-	23	4390	c.4372T>C	c.(4372-4374)TTT>CTT	p.F1458L	SCN1A_uc002udo.3_Missense_Mutation_p.F1338L|SCN1A_uc010fpk.2_Missense_Mutation_p.F1310L	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1469	Helical; Name=S6 of repeat III; (By similarity).|III.					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)	AAGGACCCAAAGATGATGAAA	0.338												
G6PC2	57818	broad.mit.edu	37	2	169761040	169761040	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:169761040C>T	uc002uem.2	+	3	446	c.354C>T	c.(352-354)GGC>GGT	p.G118G	G6PC2_uc002uen.2_Silent_p.G118G|G6PC2_uc010fpv.2_Silent_p.G2G	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	islet-specific glucose-6-phosphatase-related	118	Helical; (Potential).				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			pancreas(1)	1						ATGCAATGGGCGCATCCTGTG	0.463												
DNAH7	56171	broad.mit.edu	37	2	196852950	196852950	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:196852950T>G	uc002utj.3	-	13	1458	c.1357A>C	c.(1357-1359)AGT>CGT	p.S453R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	453	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTAGACTTACTTTCCTAAACA	0.308												
SPATS2L	26010	broad.mit.edu	37	2	201337696	201337696	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:201337696A>C	uc002uvn.3	+	12	1554	c.1202A>C	c.(1201-1203)AAA>ACA	p.K401T	SPATS2L_uc010fst.2_Missense_Mutation_p.K401T|SPATS2L_uc002uvo.3_Missense_Mutation_p.K341T|SPATS2L_uc002uvp.3_Missense_Mutation_p.K401T|SPATS2L_uc002uvq.3_Missense_Mutation_p.K332T|SPATS2L_uc002uvr.3_Missense_Mutation_p.K401T|SPATS2L_uc010zhc.1_Missense_Mutation_p.K431T	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	401						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						TCTGAAGGCAAAGCGGCAAAC	0.572												
ADAM23	8745	broad.mit.edu	37	2	207431960	207431960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:207431960C>T	uc002vbq.2	+	15	1631	c.1408C>T	c.(1408-1410)CGA>TGA	p.R470*	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	470	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTCCCATTCTCGAAAATTTTC	0.358												
SPAG16	79582	broad.mit.edu	37	2	214215281	214215281	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:214215281C>A	uc002veq.2	+	7	766	c.674C>A	c.(673-675)CCG>CAG	p.P225Q	SPAG16_uc010fuz.1_Missense_Mutation_p.P76Q|SPAG16_uc002ver.2_Missense_Mutation_p.P171Q|SPAG16_uc010zjk.1_Missense_Mutation_p.P131Q|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.P194Q	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	225	Potential.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCTTATGAACCGACTATAAGG	0.348												
TRPM8	79054	broad.mit.edu	37	2	234869689	234869689	+	Silent	SNP	C	C	T	rs142882642		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr2:234869689C>T	uc002vvh.2	+	12	1672	c.1632C>T	c.(1630-1632)GAC>GAT	p.D544D	TRPM8_uc010fyj.2_Silent_p.D232D	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	544	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGGCCGGGACGAGATGGACA	0.488												
CPXM1	56265	broad.mit.edu	37	20	2779456	2779456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:2779456G>A	uc002wgu.2	-	2	320	c.256C>T	c.(256-258)CGC>TGC	p.R86C	CPXM1_uc010gas.2_Missense_Mutation_p.R86C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	86					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						GGGGTGGGGCGAGTTAGAGTT	0.567												
JAG1	182	broad.mit.edu	37	20	10633188	10633188	+	Missense_Mutation	SNP	C	C	T	rs148990028	byFrequency	TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:10633188C>T	uc002wnw.2	-	6	1330	c.814G>A	c.(814-816)GTC>ATC	p.V272I	JAG1_uc010gcd.1_5'Flank	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	272	Extracellular (Potential).|EGF-like 2; atypical.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						ATGCCGTGGACGCATCCCGGG	0.587									Alagille_Syndrome			
SPTLC3	55304	broad.mit.edu	37	20	13140725	13140725	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:13140725A>C	uc002wod.1	+	11	1780	c.1491A>C	c.(1489-1491)GAA>GAC	p.E497D		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	497					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	CCCTCGCAGAAGCTCGGGCTC	0.498												
PLAGL2	5326	broad.mit.edu	37	20	30785006	30785006	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:30785006A>C	uc002wxn.2	-	3	957	c.740T>G	c.(739-741)CTC>CGC	p.L247R		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	247						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTGATCTTGAGCAGCTCCTG	0.577												
CSE1L	1434	broad.mit.edu	37	20	47682762	47682762	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:47682762G>A	uc002xty.2	+	4	396	c.262G>A	c.(262-264)GAT>AAT	p.D88N	CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Missense_Mutation_p.D88N	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	88	Importin N-terminal.				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTGTGAAGCCGATCGAGTGGC	0.418												
MCM3AP	8888	broad.mit.edu	37	21	47695170	47695170	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr21:47695170T>G	uc002zir.1	-	6	1964	c.1928A>C	c.(1927-1929)GAG>GCG	p.E643A		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	643					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCTCTCCTTCTCAGGACACAT	0.542												
ZNF74	7625	broad.mit.edu	37	22	20760724	20760724	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr22:20760724C>T	uc010gsm.2	+	6	1613	c.1401C>T	c.(1399-1401)AGC>AGT	p.S467S	ZNF74_uc002zsg.2_Silent_p.S396S|ZNF74_uc002zsh.2_Silent_p.S467S|ZNF74_uc002zsi.2_Silent_p.S396S|ZNF74_uc010gsn.2_Silent_p.S396S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	467					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCATCCACAGCGGCGAGAAGC	0.652												
SCARF2	91179	broad.mit.edu	37	22	20780319	20780319	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr22:20780319C>T	uc002zsj.1	-	11	2064	c.1959G>A	c.(1957-1959)TCG>TCA	p.S653S	SCARF2_uc002zsk.1_Silent_p.S648S	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	648	Pro-rich.|Cytoplasmic (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGCGCTCGGGCGATGGCGACA	0.627												
SMTN	6525	broad.mit.edu	37	22	31486955	31486955	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr22:31486955C>A	uc003ajl.1	+	10	1164	c.946C>A	c.(946-948)CCC>ACC	p.P316T	SMTN_uc003ajk.1_Missense_Mutation_p.P316T|SMTN_uc003ajm.1_Missense_Mutation_p.P316T|SMTN_uc011ale.1_Missense_Mutation_p.P370T|SMTN_uc011alf.1_Missense_Mutation_p.P372T|SMTN_uc003ajn.1_Missense_Mutation_p.P308T|SMTN_uc011alg.1_5'UTR|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	316					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						AGAGTCCACCCCCCTTGCCAG	0.582												
ATP2B2	491	broad.mit.edu	37	3	10430051	10430051	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:10430051C>T	uc003bvt.2	-	6	1256	c.817G>A	c.(817-819)GTG>ATG	p.V273M	ATP2B2_uc003bvv.2_Missense_Mutation_p.V273M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V273M|ATP2B2_uc010hdp.2_Missense_Mutation_p.V273M|ATP2B2_uc010hdo.2_Missense_Mutation_p.V9M	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	273	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACAGCAGTCACCAACATCCGT	0.517												
TRANK1	9881	broad.mit.edu	37	3	36874650	36874650	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:36874650A>C	uc003cgj.2	-	12	4944	c.4642T>G	c.(4642-4644)TTT>GTT	p.F1548V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2098					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCCAGGTCAAAAATTATTCTT	0.378												
LSAMP	4045	broad.mit.edu	37	3	115805190	115805190	+	Silent	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:115805190T>C	uc003ebt.2	-	2	869	c.369A>G	c.(367-369)CAA>CAG	p.Q123Q	LSAMP_uc011bis.1_Silent_p.Q123Q	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	123					cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCAAGTAAACTTGGGAGGTCT	0.438												
MSL2	55167	broad.mit.edu	37	3	135870710	135870710	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:135870710A>G	uc003eqx.1	-	2	1746	c.1013T>C	c.(1012-1014)TTG>TCG	p.L338S	MSL2_uc011bmb.1_Missense_Mutation_p.L264S	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	338					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TTTTCTATTCAATTTTGCTAT	0.453												
MECOM	2122	broad.mit.edu	37	3	168845679	168845679	+	Silent	SNP	C	C	T	rs150481592		TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:168845679C>T	uc003ffi.3	-	4	488	c.219G>A	c.(217-219)ACG>ACA	p.T73T	MECOM_uc010hwk.1_Silent_p.T96T|MECOM_uc003ffj.3_Silent_p.T137T|MECOM_uc011bpi.1_Silent_p.T73T|MECOM_uc003ffn.3_Silent_p.T73T|MECOM_uc003ffk.2_Silent_p.T73T|MECOM_uc003ffl.2_Silent_p.T233T|MECOM_uc011bpj.1_Silent_p.T261T|MECOM_uc011bpk.1_Silent_p.T63T|MECOM_uc010hwn.2_Silent_p.T261T|MECOM_uc003ffm.1_Silent_p.T137T	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	73	Interaction with MAPK9, SMAD3 and probably SUV39H1.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						ACTCCTGGATCGTGTGTATCT	0.388												
CRMP1	1400	broad.mit.edu	37	4	5827283	5827283	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:5827283G>A	uc003gip.2	-	14	1666	c.1565C>T	c.(1564-1566)TCG>TTG	p.S522L	EVC_uc003gim.1_Intron|CRMP1_uc003gin.1_Missense_Mutation_p.S434L|CRMP1_uc003giq.2_Missense_Mutation_p.S522L|CRMP1_uc003gir.2_Missense_Mutation_p.S517L|CRMP1_uc003gis.2_Missense_Mutation_p.S636L	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	522					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		TTTAGAAGGCGAAGATTTGGC	0.532												
JAKMIP1	152789	broad.mit.edu	37	4	6055827	6055827	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:6055827C>A	uc003giu.3	-	13	2032	c.1756G>T	c.(1756-1758)GAC>TAC	p.D586Y	JAKMIP1_uc010idb.1_Missense_Mutation_p.D586Y|JAKMIP1_uc010idc.1_Missense_Mutation_p.D401Y|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Missense_Mutation_p.D421Y|JAKMIP1_uc003giv.3_Missense_Mutation_p.D586Y|JAKMIP1_uc010ide.2_3'UTR	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	586	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TCCTTGGCGTCTTGCATTTCA	0.453												
RBM47	54502	broad.mit.edu	37	4	40440609	40440609	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:40440609C>T	uc003gvc.2	-	4	1012	c.302G>A	c.(301-303)CGC>CAC	p.R101H	RBM47_uc003gvd.2_Missense_Mutation_p.R101H|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R63H|RBM47_uc003gvg.1_Missense_Mutation_p.R101H	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	101	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(3)	3						CATCATGAGGCGCAGCTCGTA	0.632												
ATP10D	57205	broad.mit.edu	37	4	47514786	47514786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:47514786C>T	uc003gxk.1	+	2	393	c.229C>T	c.(229-231)CGA>TGA	p.R77*	ATP10D_uc003gxj.3_Nonsense_Mutation_p.R77*	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	77	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CAATCGAATACGAACAACAAA	0.388												
NFXL1	152518	broad.mit.edu	37	4	47877167	47877167	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:47877167G>C	uc010igh.2	-	18	2400	c.2223C>G	c.(2221-2223)ATC>ATG	p.I741M	NFXL1_uc003gxo.2_Missense_Mutation_p.I66M|NFXL1_uc003gxp.2_Missense_Mutation_p.I741M|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.I741M	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	741						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						ACAGGCTTGTGATCTTACAGT	0.358												
CNGA1	1259	broad.mit.edu	37	4	47938591	47938591	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:47938591C>A	uc003gxt.3	-	11	2186	c.1920G>T	c.(1918-1920)AGG>AGT	p.R640S	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R709S	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	640	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TTCGGGCAAACCTGGTTTGCA	0.433												
C4orf35	85438	broad.mit.edu	37	4	71200978	71200978	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:71200978A>C	uc003hff.2	+	1	308	c.222A>C	c.(220-222)AAA>AAC	p.K74N		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	74						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				AAAAGGAAAAACTCAAATCAG	0.368												
RUFY3	22902	broad.mit.edu	37	4	71644141	71644141	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:71644141A>G	uc003hfq.2	+	8	1475	c.880A>G	c.(880-882)AAA>GAA	p.K294E	RUFY3_uc003hfp.3_Missense_Mutation_p.K354E|RUFY3_uc011cax.1_Missense_Mutation_p.K312E|RUFY3_uc003hfr.2_Missense_Mutation_p.K294E|RUFY3_uc011cay.1_Missense_Mutation_p.K230E	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	294	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			ATCCAACACTAAACTGACAGA	0.299												
CENPE	1062	broad.mit.edu	37	4	104065732	104065732	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:104065732G>A	uc003hxb.1	-	33	4991	c.4901C>T	c.(4900-4902)ACA>ATA	p.T1634I	CENPE_uc003hxc.1_Missense_Mutation_p.T1609I	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1634	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTGACAGCTGTCATCTTAAG	0.333												
INTS12	57117	broad.mit.edu	37	4	106614632	106614632	+	Silent	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:106614632G>A	uc003hxw.2	-	5	579	c.321C>T	c.(319-321)GAC>GAT	p.D107D	INTS12_uc010ilr.2_Silent_p.D107D	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	107					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTTCAGTGATGTCTGATTTCA	0.373												
CFI	3426	broad.mit.edu	37	4	110681428	110681428	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:110681428G>A	uc003hzr.3	-	6	1089	c.881C>T	c.(880-882)GCA>GTA	p.A294V	CFI_uc003hzq.2_Missense_Mutation_p.A91V|CFI_uc011cft.1_Missense_Mutation_p.A294V|CFI_uc003hzs.3_Missense_Mutation_p.A294V	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	294	LDL-receptor class A 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCAATTACCTGCACAGCCAAC	0.413												
PITX2	5308	broad.mit.edu	37	4	111539783	111539783	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:111539783A>T	uc003iad.2	-	5	1034	c.452T>A	c.(451-453)CTA>CAA	p.L151Q	PITX2_uc003iac.2_Missense_Mutation_p.L158Q|PITX2_uc003iae.2_Missense_Mutation_p.L105Q|PITX2_uc010iml.2_Missense_Mutation_p.L22Q|PITX2_uc003iaf.2_Missense_Mutation_p.L151Q	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	151			L -> V (in RIEG1).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATTCTTGCATAGCTCGGCCTG	0.582												
PCDH18	54510	broad.mit.edu	37	4	138451501	138451501	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:138451501A>C	uc003ihe.3	-	1	2129	c.1742T>G	c.(1741-1743)TTG>TGG	p.L581W	PCDH18_uc003ihf.3_Missense_Mutation_p.L574W|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.L361W|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	581	Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ATTATTACGCAATGCAGGCCC	0.463												
GRIA2	2891	broad.mit.edu	37	4	158224891	158224891	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:158224891G>T	uc003ipm.3	+	3	876	c.417G>T	c.(415-417)TTG>TTT	p.L139F	GRIA2_uc011cit.1_Missense_Mutation_p.L92F|GRIA2_uc003ipl.3_Missense_Mutation_p.L139F|GRIA2_uc003ipk.3_Missense_Mutation_p.L92F|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	139	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCCTTAGCTTGATTGAATACT	0.458												
FSTL5	56884	broad.mit.edu	37	4	162459350	162459350	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:162459350G>A	uc003iqh.2	-	10	1716	c.1280C>T	c.(1279-1281)TCT>TTT	p.S427F	FSTL5_uc003iqi.2_Missense_Mutation_p.S426F|FSTL5_uc010iqv.2_Missense_Mutation_p.S426F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	427						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACAAAAAGAGAAGAGATGTC	0.408												
IRF2	3660	broad.mit.edu	37	4	185340650	185340650	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr4:185340650G>C	uc003iwf.3	-	3	360	c.160C>G	c.(160-162)CTC>GTC	p.L54V		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	54	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTTCTAAAGAGTGGTGCATCT	0.378												
IRX2	153572	broad.mit.edu	37	5	2749523	2749523	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:2749523C>T	uc003jda.2	-	2	870	c.628G>A	c.(628-630)GGC>AGC	p.G210S	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.G210S	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GTCTCCGTGCCCTCCTGCGCC	0.662												
KIAA0947	23379	broad.mit.edu	37	5	5457596	5457596	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:5457596T>G	uc003jdm.3	+	12	1065	c.843T>G	c.(841-843)AAT>AAG	p.N281K		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	281										ovary(1)|central_nervous_system(1)	2						TATGTCAAAATGTGGAAAAAC	0.433												
ROPN1L	83853	broad.mit.edu	37	5	10450088	10450088	+	Silent	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:10450088T>C	uc003jex.3	+	3	551	c.280T>C	c.(280-282)TTA>CTA	p.L94L		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	94					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						GTATGTGGAATTAACAGATCT	0.388												
PDZD2	23037	broad.mit.edu	37	5	32000337	32000337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:32000337G>A	uc003jhl.2	+	5	1602	c.1214G>A	c.(1213-1215)CGC>CAC	p.R405H	PDZD2_uc003jhm.2_Missense_Mutation_p.R405H|PDZD2_uc011cnx.1_Missense_Mutation_p.R231H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	405	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GCCATTCTTCGCTCCGCCACG	0.552												
PCDHGB3	56102	broad.mit.edu	37	5	140752135	140752135	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:140752135G>A	uc003ljw.1	+	1	2174	c.2174G>A	c.(2173-2175)GGC>GAC	p.G725D	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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.G725D|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	725	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)			GCCACTGAGGGCTACTTTCAG	0.562												
CSNK1A1	1452	broad.mit.edu	37	5	148891431	148891431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr5:148891431G>A	uc003lqx.1	-	6	1081	c.601C>T	c.(601-603)CGA>TGA	p.R201*	CSNK1A1_uc011dcb.1_Nonsense_Mutation_p.R110*|CSNK1A1_uc011dcc.1_Nonsense_Mutation_p.R140*|CSNK1A1_uc003lqv.1_Nonsense_Mutation_p.R112*|CSNK1A1_uc003lqw.1_Nonsense_Mutation_p.R229*|CSNK1A1_uc003lqy.1_Nonsense_Mutation_p.R201*|CSNK1A1_uc010jha.1_Nonsense_Mutation_p.R201*	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	201	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATGTCATCTCGGCGACTAGAA	0.348												
RFX6	222546	broad.mit.edu	37	6	117239221	117239221	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr6:117239221C>A	uc003pxm.2	+	10	1057	c.994C>A	c.(994-996)CCT>ACT	p.P332T		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	332					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TGTACTCATTCCTGCAACAAT	0.289												
C6orf174	387104	broad.mit.edu	37	6	127836053	127836053	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr6:127836053C>T	uc003qbd.2	-	3	2106	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	414	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTCGGCTTTGCGGAGGCGGTA	0.622												
SYNE1	23345	broad.mit.edu	37	6	152671444	152671444	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr6:152671444T>G	uc010kiw.2	-	72	12362	c.11760A>C	c.(11758-11760)AAA>AAC	p.K3920N	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.K3920N|SYNE1_uc010kja.1_Missense_Mutation_p.K625N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3920	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)		GGTCTTTGACTTTCGCCTCCA	0.463										HNSCC(10;0.0054)		
PDE10A	10846	broad.mit.edu	37	6	165989936	165989936	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr6:165989936T>C	uc003qun.2	-	2	242	c.1A>G	c.(1-3)ATG>GTG	p.M1V	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_5'UTR|PDE10A_uc003quo.2_Intron	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	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			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	tctatcctcattctacattct	0												
SDK1	221935	broad.mit.edu	37	7	4116774	4116774	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:4116774G>T	uc003smx.2	+	21	3294	c.3155G>T	c.(3154-3156)GGC>GTC	p.G1052V	SDK1_uc010kso.2_Missense_Mutation_p.G328V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1052	Fibronectin type-III 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)		ACTGCCGTGGGCACTGGCCTG	0.577												
HOXA4	3201	broad.mit.edu	37	7	27169073	27169073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:27169073C>T	uc003sym.3	-	2	781	c.734G>A	c.(733-735)CGC>CAC	p.R245H	HOXA3_uc003syk.2_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	245	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GATCTCGATGCGGCGCCGCCG	0.587												
GHRHR	2692	broad.mit.edu	37	7	31011683	31011683	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:31011683C>T	uc003tbx.2	+	6	618	c.570C>T	c.(568-570)GAC>GAT	p.D190D	GHRHR_uc003tbw.1_Silent_p.D190D|GHRHR_uc003tby.2_Silent_p.D126D|GHRHR_uc003tbz.2_Missense_Mutation_p.T8M	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	190	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	TCCACAGCGACGACACTGACC	0.582												
GLI3	2737	broad.mit.edu	37	7	42006103	42006103	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:42006103C>T	uc011kbh.1	-	15	2659	c.2568G>A	c.(2566-2568)TCG>TCA	p.S856S	GLI3_uc011kbg.1_Silent_p.S797S	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	856				S->A: Loss of proteolytic processing.	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TCAGGTAGGCCGAGCTGATGG	0.662									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
EGFR	1956	broad.mit.edu	37	7	55232990	55232990	+	Silent	SNP	C	C	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:55232990C>A	uc003tqk.2	+	15	1986	c.1740C>A	c.(1738-1740)ATC>ATA	p.I580I	EGFR_uc003tqi.2_Silent_p.I580I|EGFR_uc003tqj.2_Silent_p.I580I|EGFR_uc010kzg.1_Silent_p.I535I|EGFR_uc011kco.1_Silent_p.I527I|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	580	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACAACTGTATCCAGTGTGCCC	0.478		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
POM121C	100101267	broad.mit.edu	37	7	75068500	75068500	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:75068500C>A	uc010lde.1	-	4	956	c.956G>T	c.(955-957)CGC>CTC	p.R319L	POM121C_uc003udk.3_Missense_Mutation_p.R77L			A8CG34	P121C_HUMAN	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.	319	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						GCTATCATGGCGCCTGCGACA	0.453												
DBF4	10926	broad.mit.edu	37	7	87506063	87506063	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:87506063A>C	uc003ujf.1	+	1	520	c.16A>C	c.(16-18)ATG>CTG	p.M6L	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	6					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTCCGGAGCCATGAGGATCCA	0.597												
SLC26A5	375611	broad.mit.edu	37	7	103033484	103033484	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:103033484C>T	uc003vbz.2	-	10	1237	c.1001G>A	c.(1000-1002)AGC>AAC	p.S334N	SLC26A5_uc003vbt.1_Missense_Mutation_p.S334N|SLC26A5_uc003vbu.1_Missense_Mutation_p.S334N|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_Intron|SLC26A5_uc003vbx.2_Missense_Mutation_p.S334N|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	334	Extracellular (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						GTGGAAGAGGCTGGTGTCCGG	0.478												
RELN	5649	broad.mit.edu	37	7	103131143	103131143	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:103131143T>C	uc003vca.2	-	59	9737	c.9577A>G	c.(9577-9579)ATC>GTC	p.I3193V	RELN_uc010liz.2_Missense_Mutation_p.I3193V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3193					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCAGCTGGATGGTGATTCTT	0.463												
UBN2	254048	broad.mit.edu	37	7	138944087	138944087	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:138944087G>C	uc011kqr.1	+	5	876	c.876G>C	c.(874-876)AAG>AAC	p.K292N	UBN2_uc003vuv.2_Missense_Mutation_p.K15N	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	292	Lys-rich.									ovary(1)|skin(1)	2						AGGAGAAGAAGCCAAGGAAAA	0.403												
OR9A2	135924	broad.mit.edu	37	7	142723590	142723590	+	Silent	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr7:142723590C>T	uc003wcc.1	-	1	630	c.630G>A	c.(628-630)ACG>ACA	p.T210T		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)					AGGAGACAATCGTAGGGATCA	0.468												
ASH2L	9070	broad.mit.edu	37	8	37978477	37978477	+	Silent	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:37978477T>C	uc003xkt.3	+	10	1033	c.975T>C	c.(973-975)CTT>CTC	p.L325L	ASH2L_uc011lbk.1_Silent_p.L186L|ASH2L_uc003xku.3_Silent_p.L231L|ASH2L_uc010lwa.2_Silent_p.L231L	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	325					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTCAGCGCCTTCCCCCTCATG	0.468											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CA3	761	broad.mit.edu	37	8	86352125	86352125	+	Silent	SNP	T	T	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:86352125T>G	uc003ydj.2	+	2	302	c.219T>G	c.(217-219)ACT>ACG	p.T73T	CA13_uc003ydf.1_RNA|CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	73					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						TTGATGATACTTATGATAGGT	0.408												
OSGIN2	734	broad.mit.edu	37	8	90937164	90937164	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:90937164G>A	uc003yeg.2	+	6	1268	c.922G>A	c.(922-924)GGT>AGT	p.G308S	OSGIN2_uc003yeh.2_Missense_Mutation_p.G352S	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	308					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTTAATTGTAGGTTCTGGGCT	0.428												
TRPS1	7227	broad.mit.edu	37	8	116426744	116426744	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:116426744T>C	uc003ynz.2	-	6	3812	c.3353A>G	c.(3352-3354)AAG>AGG	p.K1118R	TRPS1_uc011lhy.1_Missense_Mutation_p.K1122R|TRPS1_uc003yny.2_Missense_Mutation_p.K1131R|TRPS1_uc010mcy.2_Missense_Mutation_p.K1118R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1118	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AACGGAGAGCTTATATTTACT	0.473									Langer-Giedion_syndrome			
RNF139	11236	broad.mit.edu	37	8	125499257	125499257	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:125499257A>T	uc003yrc.2	+	2	1710	c.1367A>T	c.(1366-1368)AAG>ATG	p.K456M		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	456					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCTGGGAAAAGCTTGACGAT	0.348									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			
SVEP1	79987	broad.mit.edu	37	9	113192672	113192672	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:113192672A>C	uc010mtz.2	-	33	5749	c.5412T>G	c.(5410-5412)ATT>ATG	p.I1804M	SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1804	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CTACTGTATAAATCTCACCTG	0.423												
AKNA	80709	broad.mit.edu	37	9	117143453	117143453	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:117143453T>C	uc004biq.3	-	1	296	c.161A>G	c.(160-162)GAG>GGG	p.E54G	AKNA_uc004bir.3_Missense_Mutation_p.E54G|AKNA_uc004bis.3_Missense_Mutation_p.E54G|AKNA_uc010mve.2_Intron|AKNA_uc004biu.1_5'UTR|AKNA_uc004biv.1_Missense_Mutation_p.E54G|AKNA_uc004biw.1_Missense_Mutation_p.E54G	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						CTCTAGGAGCTCGGGGCTGGT	0.637												
PSMD5	5711	broad.mit.edu	37	9	123583640	123583640	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:123583640T>C	uc004bko.2	-	8	1128	c.1109A>G	c.(1108-1110)TAC>TGC	p.Y370C	PSMD5_uc011lye.1_Missense_Mutation_p.Y327C	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	proteasome 26S non-ATPase subunit 5	370					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|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|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding				0						TACTGGTAAGTACAGAAGAGA	0.363												
OR1L1	26737	broad.mit.edu	37	9	125423911	125423911	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:125423911A>G	uc011lza.1	+	1	67	c.67A>G	c.(67-69)AAA>GAA	p.K23E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TAAGAAGAATAAAAGGAGAAA	0.279												
C9orf171	389799	broad.mit.edu	37	9	135374980	135374980	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr9:135374980C>T	uc004cbn.2	+	4	673	c.625C>T	c.(625-627)CGG>TGG	p.R209W	C9orf171_uc004cbo.2_Missense_Mutation_p.R173W	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	209										ovary(4)|large_intestine(1)	5						ATTTGGGATCCGGGCACGGTA	0.597												
FAM9A	171482	broad.mit.edu	37	X	8761697	8761697	+	Splice_Site	SNP	A	A	G			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:8761697A>G	uc004csg.2	-	8	1041	c.930_splice	c.e8+1	p.K310_splice		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A							nucleolus					0		Hepatocellular(5;0.219)				AATAGAACAGACCTTTAGTAA	0.378												
MED12	9968	broad.mit.edu	37	X	70341241	70341241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:70341241C>T	uc004dyy.2	+	6	999	c.800C>T	c.(799-801)CCT>CTT	p.P267L	MED12_uc011mpq.1_Missense_Mutation_p.P267L|MED12_uc004dyz.2_Missense_Mutation_p.P267L|MED12_uc004dza.2_Missense_Mutation_p.P114L	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	267					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					AAGATCCGCCCTGGAGAGGAT	0.512												
MID2	11043	broad.mit.edu	37	X	107084451	107084451	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:107084451C>T	uc004enl.2	+	2	1129	c.556C>T	c.(556-558)CCA>TCA	p.P186S	MID2_uc004enk.2_Missense_Mutation_p.P186S	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	186						centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						GGAACCAGTGCCAGACACACA	0.522												
DCAF12L1	139170	broad.mit.edu	37	X	125685821	125685821	+	Silent	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:125685821G>A	uc004eul.2	-	1	1022	c.771C>T	c.(769-771)ATC>ATT	p.I257I		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	257										skin(3)|ovary(1)	4						TGGGGTTGATGATGGCCCTGG	0.622												
USP26	83844	broad.mit.edu	37	X	132160682	132160682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:132160682G>A	uc010nrm.1	-	6	2037	c.1567C>T	c.(1567-1569)CGC>TGC	p.R523C	USP26_uc011mvf.1_Missense_Mutation_p.R523C	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	523					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AAGCTATAGCGTTTGAGGTGA	0.393												
SLITRK4	139065	broad.mit.edu	37	X	142718111	142718111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:142718111C>T	uc004fbx.2	-	2	1190	c.814G>A	c.(814-816)GTG>ATG	p.V272M	SLITRK4_uc004fby.2_Missense_Mutation_p.V272M	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	272	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGCGCACGTCAAAATCA	0.448												
ATP2B3	492	broad.mit.edu	37	X	152821535	152821535	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chrX:152821535G>A	uc004fht.1	+	12	2213	c.2087G>A	c.(2086-2088)CGT>CAT	p.R696H	ATP2B3_uc004fhs.1_Missense_Mutation_p.R696H	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	696	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCCAGCGTGCTGGCATC	0.597												
PLEKHA6	22874	broad.mit.edu	37	1	204219673	204219673	+	Splice_Site	DEL	C	C	-			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:204219673delC	uc001hau.2	-	10	1910	c.1593_splice	c.e10+1	p.D531_splice	PLEKHA6_uc009xaw.1_Splice_Site_p.D229_splice|PLEKHA6_uc009xax.1_Splice_Site_p.D211_splice|PLEKHA6_uc009xay.1_Splice_Site_p.D182_splice|PLEKHA6_uc009xaz.1_Splice_Site|PLEKHA6_uc009xba.1_Splice_Site_p.D202_splice|PLEKHA6_uc009xbb.1_Splice_Site_p.D184_splice|PLEKHA6_uc009xbc.1_Intron	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3											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)			GCTGCTCTTACATCTGTGTCT	0.607												
PLEKHA6	22874	broad.mit.edu	37	1	204219673	204219673	+	Splice_Site	DEL	C	C	-			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr1:204219673delC	uc001hau.2	-	10	1910	c.1593_splice	c.e10+1	p.D531_splice	PLEKHA6_uc009xaw.1_Splice_Site_p.D229_splice|PLEKHA6_uc009xax.1_Splice_Site_p.D211_splice|PLEKHA6_uc009xay.1_Splice_Site_p.D182_splice|PLEKHA6_uc009xaz.1_Splice_Site|PLEKHA6_uc009xba.1_Splice_Site_p.D202_splice|PLEKHA6_uc009xbb.1_Splice_Site_p.D184_splice|PLEKHA6_uc009xbc.1_Intron	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3											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)			GCTGCTCTTACATCTGTGTCT	0.607												
LRRC10	376132	broad.mit.edu	37	12	70004268	70004268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr12:70004268delC	uc001svc.2	-	1	675	c.351delG	c.(349-351)CTGfs	p.L117fs		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	117	LRR 3.					nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGAGCAGGCTCAGCTCACTGG	0.572												
CCNK	8812	broad.mit.edu	37	14	99967136	99967137	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr14:99967136_99967137delCA	uc001ygi.3	+	5	575_576	c.445_446delCA	c.(445-447)CAGfs	p.Q149fs	CCNK_uc001ygg.3_Frame_Shift_Del_p.Q149fs	NM_001099402	NP_001092872	O75909	CCNK_HUMAN	cyclin K isoform 1	149					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding				0		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				AATCTTACTGCAGACCATCAAG	0.347												
FMNL1	752	broad.mit.edu	37	17	43318901	43318901	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr17:43318901delG	uc002iin.2	+	14	1685	c.1485delG	c.(1483-1485)CCGfs	p.P495fs	FMNL1_uc002iiq.2_Frame_Shift_Del_p.P73fs|FMNL1_uc010dag.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	495	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						TGCGGGGGCCGGGGGATGCTG	0.697												
FEZF2	55079	broad.mit.edu	37	3	62358230	62358232	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr3:62358230_62358232delCCG	uc003dlh.2	-	1	519_521	c.312_314delCGG	c.(310-315)GGCGGA>GGA	p.104_105GG>G	FEZF2_uc003dli.2_In_Frame_Del_p.104_105GG>G	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	104_105	Gly-rich.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		gccgccgcctccgccgccgccCG	0.502												
INTS8	55656	broad.mit.edu	37	8	95866100	95866108	+	In_Frame_Del	DEL	TTTATATTC	TTTATATTC	-			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr8:95866099_95866107GTTTATATTC>G	uc003yhb.3	+	13	1834_1842	c.1708_1716GTTTATATTC>G	c.(1708-1716)gtttatatt>G	p.VYI570del	INTS8_uc003yha.1_In_Frame_Del_p.VYI570del|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_In_Frame_Del_p.VYI397del	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	570					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGAGATTTGGTTTATATTCTTATGGCCA	0.354												
RBM12	10137	broad.mit.edu	37	20	34242522	34242539	+	In_Frame_Del	DEL	CATGGGTGGCAGTGGGGT	CATGGGTGGCAGTGGGGT	-			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:34242521_34242538ACATGGGTGGCAGTGGGGT>A	uc021wcr.1	-	0	707_724	c.707_724ACCCCACTGCCACCCATGT>T	c.(706-726)accccactgccacccatgtcg>aTcg	p.236_242TPLPPMS>I	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_In_Frame_Del_p.236_242TPLPPMS>I|RBM12_uc002xds.3_In_Frame_Del_p.236_242TPLPPMS>I|RBM12_uc002xdr.3_In_Frame_Del_p.236_242TPLPPMS>I|RBM12_uc021wcq.1_In_Frame_Del_p.236_242TPLPPMS>I	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	236	Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding	p.S242S(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCATGCCCGACATGGGTGGCAGTGGGGTCATGGGTGG	0.555												
GTSF1L	149699	broad.mit.edu	37	20	42355141	42355141	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7715-01A-11D-2053-08	TCGA-BR-7715-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89cb9b02-63ad-44b5-8412-acd337f8263c	11a02247-a591-4d9d-8ae6-614d7e946a6f	g.chr20:42355140_42355140GT>G	uc002xld.3	-	0	503	c.195_195AC>C	c.(193-195)aacfs	p.N65fs	GTSF1L_uc002xlc.3_Frame_Shift_Del_p.N65fs	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	65							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCGCTCCTGTTGACACAAA	0.527												
