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	981547	981547	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:981547G>A	uc001ack.1	+	17	2863	c.2813G>A	c.(2812-2814)GGG>GAG	p.G938E		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	938	Kazal-like 9.				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)		CAGGTCTGTGGGTCAGATGGA	0.612000												
RPL22	6146	broad.mit.edu	37	1	6257728	6257728	+	Missense_Mutation	SNP	A	A	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:6257728A>C	uc001amd.2	-	2	147	c.101T>G	c.(100-102)ATG>AGG	p.M34R	RPL22_uc001ame.2_Missense_Mutation_p.M34R	NM_000983	NP_000974	P35268	RL22_HUMAN	ribosomal protein L22 proprotein	34					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome				0	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GGCAGCATCCATGATTCCATC	0.413000			T	RUNX1	AML|CML							
MFN2	9927	broad.mit.edu	37	1	12065913	12065913	+	Silent	SNP	C	C	T	rs140924661	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:12065913C>T	uc001atn.3	+	15	2094	c.1641C>T	c.(1639-1641)CTC>CTT	p.L547L	MFN2_uc009vni.2_Silent_p.L547L	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	547	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATTTCTCTCTCGGATGGACCA	0.532000												
ALPL	249	broad.mit.edu	37	1	21903107	21903107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:21903107C>T	uc001bet.2	+	11	1539	c.1282C>T	c.(1282-1284)CGA>TGA	p.R428*	ALPL_uc010odn.1_Nonsense_Mutation_p.R376*|ALPL_uc010odo.1_Nonsense_Mutation_p.R373*|ALPL_uc010odp.1_Nonsense_Mutation_p.R351*|ALPL_uc001beu.3_Nonsense_Mutation_p.R428*	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	428					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGGCGGTGAACGAGAGAATGT	0.607000												
SMAP2	64744	broad.mit.edu	37	1	40872476	40872476	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:40872476C>A	uc001cfj.2	+	2	237	c.172C>A	c.(172-174)CTG>ATG	p.L58M	SMAP2_uc010ojh.1_Missense_Mutation_p.L58M|SMAP2_uc001cfk.2_Missense_Mutation_p.L28M|SMAP2_uc010oji.1_Translation_Start_Site	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	58	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCACAGGAATCTGGGGGTGCA	0.498000												
NSUN4	387338	broad.mit.edu	37	1	46827504	46827504	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:46827504C>T	uc001cpr.1	+	6	1250	c.1141C>T	c.(1141-1143)CGT>TGT	p.R381C	NSUN4_uc010omc.1_Missense_Mutation_p.R332C|NSUN4_uc009vyf.1_Missense_Mutation_p.R230C|NSUN4_uc009vyg.1_Missense_Mutation_p.R332C|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	NOL1/NOP2/Sun domain family 4 protein	381							methyltransferase activity				0	Acute lymphoblastic leukemia(166;0.155)					CTGCAAAATGCGTAGGCTGAC	0.458000												
LRRC7	57554	broad.mit.edu	37	1	70488840	70488840	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:70488840G>T	uc001dep.2	+	15	1493	c.1463G>T	c.(1462-1464)GGC>GTC	p.G488V	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	488						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TGGGAAAGGGGCCAGCGTGGG	0.542000												
TTLL7	79739	broad.mit.edu	37	1	84348736	84348736	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:84348736A>G	uc001djc.2	-	20	2849	c.2453T>C	c.(2452-2454)CTT>CCT	p.L818P	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	818					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)		CTGTTTACAAAGCTCCACTAG	0.473000												
DBT	1629	broad.mit.edu	37	1	100696418	100696418	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:100696418G>T	uc001dta.2	-	4	337	c.304C>A	c.(304-306)CAA>AAA	p.Q102K	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	102	Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTATCACTTTGAACTTCACAG	0.343000												
COL11A1	1301	broad.mit.edu	37	1	103348865	103348865	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:103348865C>T	uc001dul.2	-	64	5179	c.4861G>A	c.(4861-4863)GAA>AAA	p.E1621K	COL11A1_uc001duk.2_Missense_Mutation_p.E817K|COL11A1_uc001dum.2_Missense_Mutation_p.E1633K|COL11A1_uc001dun.2_Missense_Mutation_p.E1582K|COL11A1_uc009weh.2_Missense_Mutation_p.E1505K	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1621	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCCAATATTCACCTAGAAGG	0.318000												
COL11A1	1301	broad.mit.edu	37	1	103480076	103480076	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:103480076C>A	uc001dul.2	-	13	1881	c.1563G>T	c.(1561-1563)CAG>CAT	p.Q521H	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.Q533H|COL11A1_uc001dun.2_Missense_Mutation_p.Q482H|COL11A1_uc009weh.2_Missense_Mutation_p.Q405H	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	521	Telopeptide.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCGAGCCTGCTGAAGAATAG	0.418000												
SLC22A15	55356	broad.mit.edu	37	1	116534717	116534717	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:116534717C>T	uc001egb.3	+	2	283	c.153C>T	c.(151-153)GAC>GAT	p.D51D	SLC22A15_uc001ega.2_Silent_p.D51D	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	51					ion transport	integral to membrane	transmembrane transporter activity			large_intestine(2)	2	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACCACTGGGACCTGGCAGAGC	0.587000												
PHGDH	26227	broad.mit.edu	37	1	120278013	120278013	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:120278013C>T	uc001ehz.2	+	7	966	c.739C>T	c.(739-741)CGG>TGG	p.R247W	PHGDH_uc009whm.2_Missense_Mutation_p.R145W|PHGDH_uc001eia.2_Missense_Mutation_p.R247W|PHGDH_uc009whn.2_Missense_Mutation_p.R247W|PHGDH_uc001eib.2_Missense_Mutation_p.R213W	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	247					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CGCCCTGCTCCGGGCCCTGCA	0.627000												
TUFT1	7286	broad.mit.edu	37	1	151536460	151536460	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:151536460C>T	uc001eyl.2	+	4	380	c.318C>T	c.(316-318)ATC>ATT	p.I106I	TUFT1_uc001eym.2_Silent_p.I81I|TUFT1_uc010pdf.1_Silent_p.I125I|TUFT1_uc010pdg.1_Silent_p.I54I	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	106	Potential.				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAGTACATCCAGGAGGTGG	0.443000												
FLG2	388698	broad.mit.edu	37	1	152328723	152328723	+	Silent	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:152328723T>C	uc001ezw.3	-	3	1612	c.1539A>G	c.(1537-1539)GGA>GGG	p.G513G	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	513	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGGATTGTCCTGAGACAG	0.522000												
PMVK	10654	broad.mit.edu	37	1	154898954	154898954	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:154898954C>T	uc001ffq.2	-	4	641	c.318G>A	c.(316-318)GTG>GTA	p.V106V		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	106					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGTGTCACTCACCAGCTGCA	0.607000												
SPTA1	6708	broad.mit.edu	37	1	158632694	158632694	+	Silent	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:158632694T>C	uc001fst.1	-	17	2461	c.2262A>G	c.(2260-2262)GAA>GAG	p.E754E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	754	Spectrin 8.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGCCTATTTCTTCAAAATATG	0.433000												
OR6N1	128372	broad.mit.edu	37	1	158735928	158735928	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:158735928G>A	uc010piq.1	-	1	545	c.545C>T	c.(544-546)CCT>CTT	p.P182L		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CAGCACAGGAGGGAAGTCACA	0.478000												
ATP1A2	477	broad.mit.edu	37	1	160109759	160109759	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:160109759C>T	uc001fvc.2	+	22	3151	c.3019C>T	c.(3019-3021)CGG>TGG	p.R1007W	ATP1A2_uc001fvd.2_Missense_Mutation_p.R726W	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	1007	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R1007P(1)		central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCTCATCCTGCGGCGGTATCC	0.587000												
NR1I3	9970	broad.mit.edu	37	1	161199656	161199656	+	Silent	SNP	G	G	A	rs79799851	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:161199656G>A	uc001fzx.2	-	9	1193	c.990C>T	c.(988-990)TAC>TAT	p.Y330Y	TOMM40L_uc010pkl.1_3'UTR|TOMM40L_uc001fzd.2_3'UTR|TOMM40L_uc009wue.2_3'UTR|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_3'UTR|NR1I3_uc001fzf.2_Intron|NR1I3_uc001fzg.2_Intron|NR1I3_uc001fzh.2_Silent_p.Y302Y|NR1I3_uc001fzi.2_Intron|NR1I3_uc001fzj.2_Silent_p.Y297Y|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Silent_p.Y258Y|NR1I3_uc001fzm.2_Silent_p.Y251Y|NR1I3_uc001fzn.2_Silent_p.Y120Y|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Silent_p.Y335Y|NR1I3_uc001fzo.2_Silent_p.Y159Y|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_3'UTR|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Silent_p.Y120Y|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_3'UTR|NR1I3_uc001fzw.2_Intron|NR1I3_uc001fzy.2_Silent_p.Y326Y|NR1I3_uc001fzz.2_Silent_p.Y292Y|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Silent_p.Y287Y|NR1I3_uc001gac.2_Intron	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	330					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TTTGGTACCCGTAGGCCTCAT	0.572000												
FMO3	2328	broad.mit.edu	37	1	171083449	171083449	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:171083449C>A	uc001ghi.2	+	7	1241	c.1130C>A	c.(1129-1131)GCT>GAT	p.A377D	FMO3_uc001ghh.2_Missense_Mutation_p.A377D|FMO3_uc010pmb.1_Missense_Mutation_p.A357D|FMO3_uc010pmc.1_Missense_Mutation_p.A314D	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	377					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCCCTTGGGGCTGCCATTCCC	0.448000												
MYOC	4653	broad.mit.edu	37	1	171621299	171621299	+	Silent	SNP	A	A	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:171621299A>T	uc001ghu.2	-	1	475	c.453T>A	c.(451-453)GTT>GTA	p.V151V	MYOC_uc010pmk.1_Silent_p.V93V	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	151	Potential.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTTCCTCCAGAACTGACTTGT	0.572000												
CR2	1380	broad.mit.edu	37	1	207646324	207646324	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:207646324G>A	uc001hfw.2	+	10	1872	c.1778G>A	c.(1777-1779)TGT>TAT	p.C593Y	CR2_uc001hfv.2_Missense_Mutation_p.C593Y|CR2_uc009xch.2_Missense_Mutation_p.C593Y|CR2_uc009xci.1_Missense_Mutation_p.C78Y	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	593	Sushi 9.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GCTCCCCTGTGTAAACTTTCC	0.483000												
HLX	3142	broad.mit.edu	37	1	221053383	221053383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:221053383G>T	uc001hmv.3	+	1	641	c.184G>T	c.(184-186)GAG>TAG	p.E62*		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	62					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		GGCGGCCCCGGAGGGCCTGGC	0.721000												
DISC1	27185	broad.mit.edu	37	1	231906801	231906801	+	Missense_Mutation	SNP	C	C	T	rs143165003	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:231906801C>T	uc001huz.2	+	6	1672	c.1619C>T	c.(1618-1620)CCG>CTG	p.P540L	TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.P529L|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.P495L|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.P495L|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.P529L|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.P529L|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Missense_Mutation_p.P540L|DISC1_uc010pwr.1_Missense_Mutation_p.P540L|DISC1_uc010pws.1_Missense_Mutation_p.P540L|DISC1_uc010pwt.1_Missense_Mutation_p.P540L|DISC1_uc010pwu.1_Missense_Mutation_p.P190L|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.P540L|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.P540L|DISC1_uc010pxb.1_Missense_Mutation_p.P540L|DISC1_uc010pxc.1_Missense_Mutation_p.P540L|DISC1_uc010pxd.1_Missense_Mutation_p.P185L|DISC1_uc010pxe.1_Missense_Mutation_p.P540L|DISC1_uc009xfr.2_Missense_Mutation_p.P495L|DISC1_uc010pxf.1_Missense_Mutation_p.P540L|DISC1_uc010pxg.1_Missense_Mutation_p.P540L|DISC1_uc010pxh.1_Missense_Mutation_p.P572L|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.P185L|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Missense_Mutation_p.P185L|DISC1_uc001hva.2_Missense_Mutation_p.P540L	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	540	Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGAGCCACCGGAAACCATA	0.542000												
RYR2	6262	broad.mit.edu	37	1	237947931	237947931	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:237947931C>T	uc001hyl.1	+	90	13039	c.12919C>T	c.(12919-12921)CGC>TGC	p.R4307C	RYR2_uc010pya.1_Missense_Mutation_p.R722C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4307	Helical; Name=M4; (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGCTTTTTCCGCATCATTTG	0.507000												
OR1C1	26188	broad.mit.edu	37	1	247920903	247920903	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:247920903T>C	uc010pza.1	-	1	806	c.806A>G	c.(805-807)GAG>GGG	p.E269G		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGTGTCGCTCTCAGGCATATG	0.512000												
SFMBT2	57713	broad.mit.edu	37	10	7327907	7327907	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:7327907T>C	uc009xio.1	-	5	537	c.446A>G	c.(445-447)GAG>GGG	p.E149G	SFMBT2_uc001ijn.1_Missense_Mutation_p.E149G|SFMBT2_uc010qay.1_Missense_Mutation_p.E149G|SFMBT2_uc001ijo.1_Missense_Mutation_p.E149G	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	149					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TGTGTACTTCTCTTTGATTGC	0.378000												
ANUBL1	93550	broad.mit.edu	37	10	46121821	46121821	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:46121821G>A	uc001jcp.3	-	7	1692	c.1450C>T	c.(1450-1452)CAT>TAT	p.H484Y	ANUBL1_uc001jcl.3_Missense_Mutation_p.H4Y|ANUBL1_uc001jcm.3_Missense_Mutation_p.H484Y|ANUBL1_uc009xmu.2_Missense_Mutation_p.H410Y|ANUBL1_uc001jcn.3_Missense_Mutation_p.H410Y|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	484							zinc ion binding				0						AGAGAATTATGTAGCGACATT	0.428000												
LIPJ	142910	broad.mit.edu	37	10	90350351	90350351	+	Translation_Start_Site	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:90350351G>A	uc001kff.2	+	3	221	c.-93G>A	c.(-95--91)ACGTG>ACATG			NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	lipase, family member J						lipid catabolic process		hydrolase activity			ovary(1)	1		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GGTCCCAAACGTGGTATCTTT	0.279000												
TUBGCP2	10844	broad.mit.edu	37	10	135094780	135094780	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:135094780G>A	uc001lmg.1	-	17	2927	c.2570C>T	c.(2569-2571)TCC>TTC	p.S857F	TUBGCP2_uc001lmf.1_Missense_Mutation_p.S450F|TUBGCP2_uc010qvc.1_Missense_Mutation_p.S885F|TUBGCP2_uc009ybk.1_Missense_Mutation_p.S880F|TUBGCP2_uc010qvd.1_Missense_Mutation_p.S727F|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	857					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CACCCACCTGGAGATGACGCT	0.343000												
MUC5B	727897	broad.mit.edu	37	11	1268887	1268887	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:1268887G>A	uc009ycr.1	+	50	12487	c.12361G>A	c.(12361-12363)GGG>AGG	p.G4121R	MUC5B_uc001ltb.2_Missense_Mutation_p.G3596R	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3593	7 X Cys-rich subdomain repeats.|Cys-rich subdomain 6.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCCTCTGGCGGGGACTTTGA	0.682000												
PLEKHA7	144100	broad.mit.edu	37	11	16816468	16816468	+	Missense_Mutation	SNP	A	A	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:16816468A>C	uc001mmo.2	-	18	2522	c.2507T>G	c.(2506-2508)GTA>GGA	p.V836G	PLEKHA7_uc010rcu.1_Missense_Mutation_p.V836G|PLEKHA7_uc010rcv.1_Missense_Mutation_p.V410G|PLEKHA7_uc001mmn.2_Missense_Mutation_p.V544G	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	836					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						CGGATTTTTTACTGACTCCAC	0.498000												
ANO3	63982	broad.mit.edu	37	11	26681809	26681809	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:26681809C>T	uc001mqt.3	+	27	2909	c.2764C>T	c.(2764-2766)CAC>TAC	p.H922Y	ANO3_uc010rdr.1_Missense_Mutation_p.H906Y|ANO3_uc010rds.1_Missense_Mutation_p.H761Y|ANO3_uc010rdt.1_Missense_Mutation_p.H776Y	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	922	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AAATTTGCAGCACCTTGTTTT	0.363000												
ARHGAP1	392	broad.mit.edu	37	11	46702069	46702069	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:46702069A>G	uc001ndd.2	-	9	857	c.788T>C	c.(787-789)CTC>CCC	p.L263P		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	263	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		AGTCTCCCTGAGTACAATGGG	0.657000												
LRP4	4038	broad.mit.edu	37	11	46896499	46896499	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:46896499G>A	uc001ndn.3	-	28	4227	c.4081C>T	c.(4081-4083)CGT>TGT	p.R1361C		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1361	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		ATGGAGCCACGGCTGGAGAAG	0.577000												
MADD	8567	broad.mit.edu	37	11	47306680	47306680	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:47306680G>A	uc001ner.1	+	13	2537	c.2346G>A	c.(2344-2346)GAG>GAA	p.E782E	MADD_uc001neq.2_Silent_p.E782E|MADD_uc001nev.1_Intron|MADD_uc001nes.1_Intron|MADD_uc001net.1_Silent_p.E782E|MADD_uc009yln.1_Intron|MADD_uc001neu.1_Intron|MADD_uc001nex.2_Silent_p.E782E|MADD_uc001nez.2_Intron|MADD_uc001new.2_Silent_p.E782E	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	782					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TTCCCCCTGAGGAAGATGAGG	0.547000												
ESRRA	2101	broad.mit.edu	37	11	64082312	64082312	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:64082312C>T	uc001nzq.1	+	5	848	c.671C>T	c.(670-672)GCC>GTC	p.A224V	ESRRA_uc001nzr.1_Missense_Mutation_p.A223V|ESRRA_uc001nzs.1_Missense_Mutation_p.A224V|ESRRA_uc009ypn.1_Intron	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	224	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0						CACCTCCCAGCCGTGGCTACC	0.622000												
BRMS1	25855	broad.mit.edu	37	11	66107615	66107615	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:66107615C>G	uc001ohp.1	-	7	752	c.605G>C	c.(604-606)AGG>ACG	p.R202T	BRMS1_uc001oho.1_Missense_Mutation_p.R202T|BRMS1_uc009yre.2_Intron	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	202					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0						TGCCTTCTTCCTCTTGCTGGG	0.582000												
ANO1	55107	broad.mit.edu	37	11	69999183	69999183	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:69999183C>T	uc001opj.2	+	14	1679	c.1374C>T	c.(1372-1374)TAC>TAT	p.Y458Y	ANO1_uc001opk.1_Silent_p.Y426Y|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.Y193Y	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	458	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GAGCTGAATACGAAGCCAGAG	0.443000												
NAALAD2	10003	broad.mit.edu	37	11	89882277	89882277	+	Splice_Site	SNP	T	T	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:89882277T>G	uc001pdf.3	+	4	592	c.483_splice	c.e4+2	p.E161_splice	NAALAD2_uc009yvx.2_Splice_Site_p.E161_splice|NAALAD2_uc009yvy.2_Splice_Site_p.E161_splice|NAALAD2_uc001pdd.2_Splice_Site_p.E161_splice|NAALAD2_uc001pde.2_Splice_Site_p.E161_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2						proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATGCCAGAGGTAAAATAAAAT	0.358000												
MED17	9440	broad.mit.edu	37	11	93529609	93529609	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:93529609C>G	uc001pem.3	+	7	1321	c.1046C>G	c.(1045-1047)TCA>TGA	p.S349*		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	349					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGCCATTCCTCAAATGATAAG	0.358000												
KDM4D	55693	broad.mit.edu	37	11	94731530	94731530	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:94731530C>G	uc001pfe.2	+	3	1826	c.994C>G	c.(994-996)CGC>GGC	p.R332G		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	332					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GCAACCTGAACGCTATGACCT	0.572000												
DYNC2H1	79659	broad.mit.edu	37	11	103157000	103157000	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:103157000T>C	uc001pho.2	+	74	11051	c.10907T>C	c.(10906-10908)CTT>CCT	p.L3636P	DYNC2H1_uc001phn.1_Missense_Mutation_p.L3643P|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3636					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTCCCCAGTCTTTATCAGACC	0.333000												
ZBTB16	7704	broad.mit.edu	37	11	113934125	113934125	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:113934125G>A	uc001pop.2	+	2	367	c.103G>A	c.(103-105)GAT>AAT	p.D35N	ZBTB16_uc001poo.1_Missense_Mutation_p.D35N|ZBTB16_uc001poq.2_Missense_Mutation_p.D35N	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	35	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GACTTTGTGCGATGTGGTCAT	0.587000												
FAM55D	54827	broad.mit.edu	37	11	114441753	114441753	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:114441753C>A	uc001ppc.2	-	6	1723	c.1542G>T	c.(1540-1542)TGG>TGT	p.W514C	FAM55D_uc001ppd.2_Missense_Mutation_p.W230C	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	514						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TTGTTATATCCCAGGCATCAA	0.323000												
SIDT2	51092	broad.mit.edu	37	11	117053270	117053270	+	Silent	SNP	G	G	A	rs78302783	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:117053270G>A	uc001pqh.1	+	5	593	c.552G>A	c.(550-552)TCG>TCA	p.S184S	SIDT2_uc010rxe.1_Silent_p.S184S|SIDT2_uc001pqg.2_Silent_p.S184S|SIDT2_uc001pqi.1_Silent_p.S184S	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	184	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GCGTGGACTCGGTAATTGTCA	0.547000												
AAAS	8086	broad.mit.edu	37	12	53701473	53701473	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:53701473G>A	uc001scr.3	-	16	1604	c.1441C>T	c.(1441-1443)CAC>TAC	p.H481Y	AAAS_uc001scs.3_Missense_Mutation_p.H448Y	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	481					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						AGCGGGATGTGGGCAATTCGG	0.582000												
ERBB3	2065	broad.mit.edu	37	12	56493687	56493687	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:56493687G>C	uc001sjh.2	+	25	3196	c.3003G>C	c.(3001-3003)GAG>GAC	p.E1001D	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.E358D|ERBB3_uc010sqc.1_Missense_Mutation_p.E942D|ERBB3_uc009zok.2_Missense_Mutation_p.E266D|ERBB3_uc001sjk.2_Missense_Mutation_p.E242D|ERBB3_uc001sjl.2_Missense_Mutation_p.E121D	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1001	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGAAGCTAGAGGAAGTAGAGC	0.557000												
AGAP2	116986	broad.mit.edu	37	12	58128428	58128428	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:58128428G>A	uc001spq.2	-	3	1262	c.1262C>T	c.(1261-1263)TCG>TTG	p.S421L	AGAP2_uc001spp.2_Missense_Mutation_p.S421L|AGAP2_uc001spr.2_Missense_Mutation_p.S85L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	421	G domain.				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						GTGGATGAGCGATGACTTCCC	0.537000												
AVPR1A	552	broad.mit.edu	37	12	63544532	63544532	+	Missense_Mutation	SNP	T	T	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:63544532T>G	uc001sro.1	-	1	2059	c.85A>C	c.(85-87)AGC>CGC	p.S29R		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	29	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTCCCGGCTTGTGTTGCCA	0.701000												
TRPV4	59341	broad.mit.edu	37	12	110222176	110222176	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:110222176C>T	uc001tpj.1	-	14	2498	c.2403G>A	c.(2401-2403)AAG>AAA	p.K801K	TRPV4_uc001tpg.1_Silent_p.K767K|TRPV4_uc001tph.1_Silent_p.K754K|TRPV4_uc001tpi.1_Silent_p.K694K|TRPV4_uc001tpk.1_Silent_p.K801K|TRPV4_uc001tpl.1_Silent_p.K741K	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	801	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AGGTCTCATTCTTGCCCGGGT	0.617000												
SH2B3	10019	broad.mit.edu	37	12	111884621	111884621	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:111884621T>C	uc001tse.2	+	3	1154	c.797T>C	c.(796-798)CTT>CCT	p.L266P	SH2B3_uc010syf.1_Missense_Mutation_p.L266P|SH2B3_uc001tsf.2_Missense_Mutation_p.L266P|SH2B3_uc010syg.1_Missense_Mutation_p.L64P	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	266	PH.				blood coagulation	cytosol	signal transducer activity			ovary(1)	1						TGCACACGGCTTGAGATGCCT	0.517000												
RILPL2	196383	broad.mit.edu	37	12	123915113	123915113	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:123915113G>A	uc001uey.1	-	2	730	c.433C>T	c.(433-435)CGC>TGC	p.R145C		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	145	Potential.|RILP-like.					cytosol|plasma membrane	identical protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		AGTTTGTTGCGTTCCTGCAGC	0.592000												
NCOR2	9612	broad.mit.edu	37	12	124846808	124846808	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:124846808G>A	uc010tba.1	-	22	3081	c.2964C>T	c.(2962-2964)GAC>GAT	p.D988D	NCOR2_uc010tay.1_Silent_p.D987D|NCOR2_uc010taz.1_Silent_p.D971D|NCOR2_uc010tbb.1_Silent_p.D988D|NCOR2_uc010tbc.1_Silent_p.D970D|NCOR2_uc001ugj.1_Silent_p.D988D	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	988					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGGAGCTGCGTCCTCCCGGG	0.667000												
TPTE2	93492	broad.mit.edu	37	13	20041372	20041372	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:20041372T>C	uc001umd.2	-	8	716	c.505A>G	c.(505-507)ATT>GTT	p.I169V	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	169						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TACCTGGGAATATTCCTAAGC	0.284000												
XPO4	64328	broad.mit.edu	37	13	21401231	21401231	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:21401231C>A	uc001unq.3	-	7	851	c.815G>T	c.(814-816)AGC>ATC	p.S272I		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	272					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)		CATAACTCTGCTGTCCAGAAG	0.428000												
DCLK1	9201	broad.mit.edu	37	13	36379912	36379912	+	Missense_Mutation	SNP	A	A	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:36379912A>T	uc001uvf.2	-	15	2101	c.1868T>A	c.(1867-1869)CTC>CAC	p.L623H	DCLK1_uc001uve.3_Missense_Mutation_p.L316H|DCLK1_uc010teh.1_Missense_Mutation_p.L316H|DCLK1_uc010abk.2_Missense_Mutation_p.L143H	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	623	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CATGGTAATGAGCTCCTGTGA	0.413000												
DCLK1	9201	broad.mit.edu	37	13	36686318	36686318	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:36686318G>C	uc001uvf.2	-	3	644	c.411C>G	c.(409-411)TTC>TTG	p.F137L		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	137	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGTTTCTTGAAGGGCTCTA	0.428000												
VPS36	51028	broad.mit.edu	37	13	52991205	52991205	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:52991205G>A	uc001vgs.2	-	12	1011	c.977C>T	c.(976-978)TCG>TTG	p.S326L	VPS36_uc001vgq.2_Missense_Mutation_p.S268L	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36	326					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			skin(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTCCAGGGCCGAGGCCACCAT	0.483000												
ITGBL1	9358	broad.mit.edu	37	13	102345019	102345019	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:102345019G>A	uc001vpb.2	+	8	1319	c.1100G>A	c.(1099-1101)CGC>CAC	p.R367H	ITGBL1_uc010agb.2_Missense_Mutation_p.R318H|ITGBL1_uc001vpc.3_Missense_Mutation_p.R226H	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	367	VII.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATGATCGCCGCTGTGAAGAC	0.473000												
TUBGCP3	10426	broad.mit.edu	37	13	113153436	113153436	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:113153436C>T	uc001vse.1	-	20	2558	c.2371G>A	c.(2371-2373)GCA>ACA	p.A791T	TUBGCP3_uc010tjq.1_Missense_Mutation_p.A781T|TUBGCP3_uc001vsf.2_Missense_Mutation_p.A791T	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	791					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGTATATTGCATCTTGAGCA	0.358000												
OR4N2	390429	broad.mit.edu	37	14	20296061	20296061	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:20296061G>A	uc010tkv.1	+	1	454	c.454G>A	c.(454-456)GGT>AGT	p.G152S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGCTTGGGGGTTTTGTCCA	0.532000												
MYH7	4625	broad.mit.edu	37	14	23887594	23887594	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:23887594C>T	uc001wjx.2	-	30	4100	c.3994G>A	c.(3994-3996)GCA>ACA	p.A1332T	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1332	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACTGCAGTGCGTGGGCCAGG	0.657000												
TC2N	123036	broad.mit.edu	37	14	92258735	92258735	+	Silent	SNP	A	A	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:92258735A>G	uc001xzu.3	-	9	1214	c.1023T>C	c.(1021-1023)GAT>GAC	p.D341D	TC2N_uc001xzt.3_Silent_p.D341D|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Silent_p.D341D	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	341						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		GTGGTGTTATATCCAAAGAGT	0.358000												
CDC42BPB	9578	broad.mit.edu	37	14	103429456	103429456	+	Missense_Mutation	SNP	T	T	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:103429456T>A	uc001ymi.1	-	20	2995	c.2763A>T	c.(2761-2763)TTA>TTT	p.L921F	CDC42BPB_uc001ymj.1_Missense_Mutation_p.L49F	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	921	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTCTTCTAATAATTCTCTGT	0.328000												
TGM7	116179	broad.mit.edu	37	15	43572146	43572146	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr15:43572146G>T	uc001zrf.1	-	10	1360	c.1355C>A	c.(1354-1356)TCC>TAC	p.S452Y		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	452					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTCCTCAGGGGATCCTGCAGA	0.572000												
ATP8B4	79895	broad.mit.edu	37	15	50339641	50339641	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr15:50339641C>T	uc001zxu.2	-	4	250	c.108G>A	c.(106-108)TCG>TCA	p.S36S	ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	36	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TATTATATTTCGATGTGTGGA	0.358000												
VPS13C	54832	broad.mit.edu	37	15	62273584	62273584	+	Missense_Mutation	SNP	T	T	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr15:62273584T>G	uc002agz.2	-	22	2197	c.2123A>C	c.(2122-2124)CAT>CCT	p.H708P	VPS13C_uc002aha.2_Missense_Mutation_p.H665P|VPS13C_uc002ahb.1_Missense_Mutation_p.H708P|VPS13C_uc002ahc.1_Missense_Mutation_p.H665P	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	708					protein localization					ovary(2)	2						TGACTTTTCATGGTGGAAACC	0.368000												
DAPK2	23604	broad.mit.edu	37	15	64332386	64332386	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr15:64332386G>A	uc002amr.2	-	2	106	c.75C>T	c.(73-75)ATC>ATT	p.I25I	DAPK2_uc010uim.1_RNA|DAPK2_uc010bgu.1_Silent_p.I15I	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	death-associated kinase 2	25	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2				LUAD - Lung adenocarcinoma(2;0.215)		GCTCCTCTCCGATGTCATAAA	0.522000												
MVP	9961	broad.mit.edu	37	16	29858617	29858617	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:29858617G>A	uc002dui.2	+	14	2449	c.2365G>A	c.(2365-2367)GAG>AAG	p.E789K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.E789K|MVP_uc010vea.1_Missense_Mutation_p.E383K	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	789					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GCAGCTGGCTGAGGTGGAGGT	0.617000												
ZNF747	65988	broad.mit.edu	37	16	30545794	30545794	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:30545794G>A	uc002dyn.2	-	1	401	c.207C>T	c.(205-207)ACC>ACT	p.T69T	ZNF768_uc010vex.1_5'UTR|ZNF747_uc002dyo.1_Silent_p.T69T|ZNF747_uc010vey.1_Silent_p.T69T|uc002dyp.1_5'Flank	NM_023931	NP_076420	Q9BV97	ZN747_HUMAN	zinc finger protein 747	69	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0						GGTGGCCGTAGGTCTCCCGCA	0.726000												
EXOC3L	283849	broad.mit.edu	37	16	67220250	67220250	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:67220250G>A	uc002erx.1	-	9	1627	c.1386C>T	c.(1384-1386)AGC>AGT	p.S462S	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Silent_p.S113S|EXOC3L_uc002ery.1_Silent_p.S364S|EXOC3L_uc010vje.1_Silent_p.S359S	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	462					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CATCACTGAAGCTGCAATGGG	0.582000											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ST3GAL2	6483	broad.mit.edu	37	16	70432202	70432202	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:70432202C>T	uc002eyw.2	-	1	2340	c.232G>A	c.(232-234)GAT>AAT	p.D78N	ST3GAL2_uc002eyx.2_Missense_Mutation_p.D78N	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	78	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)				GCACCGGCATCGCCCATGCAG	0.642000												
ZFHX3	463	broad.mit.edu	37	16	72822033	72822033	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:72822033C>G	uc002fck.2	-	10	10815	c.10142G>C	c.(10141-10143)CGG>CCG	p.R3381P	ZFHX3_uc002fcl.2_Missense_Mutation_p.R2467P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3381	Poly-Gln.		Missing.		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ctgtagttgccgctgctgctg	0.433000												
WDR59	79726	broad.mit.edu	37	16	74990459	74990459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:74990459G>A	uc002fdh.1	-	3	256	c.154C>T	c.(154-156)CGA>TGA	p.R52*	WDR59_uc002fdi.2_Nonsense_Mutation_p.R52*|WDR59_uc002fdj.2_Nonsense_Mutation_p.R52*	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	52										ovary(1)|breast(1)	2						GAGATCTTTCGGTGACCTTCG	0.428000												
HSD17B2	3294	broad.mit.edu	37	16	82131837	82131837	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:82131837G>A	uc002fgv.2	+	5	1132	c.960G>A	c.(958-960)CCG>CCA	p.P320P		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	320					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)	ACTTCTCTCCGGTGCTGCGGG	0.527000												
CTU2	348180	broad.mit.edu	37	16	88779791	88779791	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:88779791G>A	uc002flm.2	+	8	857	c.809G>A	c.(808-810)CGC>CAC	p.R270H	CTU2_uc002fln.2_Missense_Mutation_p.R270H|CTU2_uc010chz.2_Missense_Mutation_p.R341H|CTU2_uc010cia.2_Missense_Mutation_p.R183H	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	270					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						AGCTGCACACGCTTGGCTATC	0.637000												
VPS53	55275	broad.mit.edu	37	17	613826	613826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:613826G>A	uc002frn.2	-	2	262	c.115C>T	c.(115-117)CGA>TGA	p.R39*	VPS53_uc010cjo.1_Nonsense_Mutation_p.R39*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.R39*|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Nonsense_Mutation_p.R39*	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	39					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AAATCTGCTCGATCTAGAGGG	0.323000												
NOS2	4843	broad.mit.edu	37	17	26110016	26110016	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:26110016C>T	uc002gzu.2	-	6	848	c.584G>A	c.(583-585)CGC>CAC	p.R195H	NOS2_uc010crh.1_Missense_Mutation_p.R195H|NOS2_uc010wab.1_Missense_Mutation_p.R195H	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	195					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGGGCATTGCGCCAGGCCTG	0.587000												
MRM1	79922	broad.mit.edu	37	17	34958270	34958270	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:34958270A>G	uc002hne.2	+	1	246	c.31A>G	c.(31-33)ACC>GCC	p.T11A	MRM1_uc002hnf.2_5'Flank	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	11					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCGGGGCGCGACCTGGGGTCG	0.697000												
GPR179	440435	broad.mit.edu	37	17	36485646	36485646	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:36485646G>A	uc002hpz.2	-	11	3827	c.3806C>T	c.(3805-3807)ACG>ATG	p.T1269M		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1269	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCTTCACTCGTCTCCCAGGG	0.582000												
CASC3	22794	broad.mit.edu	37	17	38318390	38318390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38318390C>T	uc010cwt.1	+	5	887	c.592C>T	c.(592-594)CAG>TAG	p.Q198*	CASC3_uc010cws.1_Nonsense_Mutation_p.Q198*|CASC3_uc002hue.2_Nonsense_Mutation_p.Q198*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	198	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AGGGCAAACTCAGGAGGAGGA	0.348000												
CASC3	22794	broad.mit.edu	37	17	38319064	38319064	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38319064C>T	uc010cwt.1	+	6	990	c.695C>T	c.(694-696)TCC>TTC	p.S232F	CASC3_uc010cws.1_Missense_Mutation_p.S232F|CASC3_uc002hue.2_Missense_Mutation_p.S232F	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	232	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						GCCCCAAAGTCCCGACAGGAG	0.512000												
CASC3	22794	broad.mit.edu	37	17	38319117	38319117	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38319117C>T	uc010cwt.1	+	6	1043	c.748C>T	c.(748-750)CCT>TCT	p.P250S	CASC3_uc010cws.1_Missense_Mutation_p.P250S|CASC3_uc002hue.2_Missense_Mutation_p.P250S	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	250	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AGCTCATAATCCTGATGACAT	0.458000												
CASC3	22794	broad.mit.edu	37	17	38323756	38323757	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323756_38323757CC>TT	uc010cwt.1	+	9	1837_1838	c.1542_1543CC>TT	c.(1540-1545)GTCCAG>GTTTAG	p.Q515*	CASC3_uc002hue.2_Nonsense_Mutation_p.Q515*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	515	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTCAGGGTGTCCAGGGTGGTCG	0.490000												
CASC3	22794	broad.mit.edu	37	17	38323782	38323782	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323782C>T	uc010cwt.1	+	9	1863	c.1568C>T	c.(1567-1569)TCA>TTA	p.S523L	CASC3_uc002hue.2_Missense_Mutation_p.S523L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	523	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AAACGCTATTCATCCCAGCGG	0.493000												
CASC3	22794	broad.mit.edu	37	17	38323785	38323785	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323785C>T	uc010cwt.1	+	9	1866	c.1571C>T	c.(1570-1572)TCC>TTC	p.S524F	CASC3_uc002hue.2_Missense_Mutation_p.S524F	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	524	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CGCTATTCATCCCAGCGGCAA	0.493000												
CASC3	22794	broad.mit.edu	37	17	38323834	38323834	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323834C>T	uc010cwt.1	+	9	1915	c.1620C>T	c.(1618-1620)ATC>ATT	p.I540I	CASC3_uc002hue.2_Silent_p.I540I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	540	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGTGCATATCAGTATCATGG	0.517000												
CASC3	22794	broad.mit.edu	37	17	38323862	38323862	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323862C>T	uc010cwt.1	+	9	1943	c.1648C>T	c.(1648-1650)CCA>TCA	p.P550S	CASC3_uc002hue.2_Missense_Mutation_p.P550S	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	550	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TTACTATGATCCACGTGAGTT	0.502000												
CASC3	22794	broad.mit.edu	37	17	38324513	38324513	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38324513C>T	uc010cwt.1	+	11	2103	c.1808C>T	c.(1807-1809)CCA>CTA	p.P603L	CASC3_uc002hue.2_Missense_Mutation_p.P603L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	603	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TATCCCCCACCAGTGTCCATG	0.488000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC3	22794	broad.mit.edu	37	17	38324586	38324586	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38324586C>T	uc010cwt.1	+	11	2176	c.1881C>T	c.(1879-1881)GTC>GTT	p.V627V	CASC3_uc002hue.2_Silent_p.V627V	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	627	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTCCAGGCGTCATGAACTTTG	0.542000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC3	22794	broad.mit.edu	37	17	38324639	38324639	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38324639C>T	uc010cwt.1	+	11	2229	c.1934C>T	c.(1933-1935)CCA>CTA	p.P645L	CASC3_uc002hue.2_Missense_Mutation_p.P645L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	645	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTGCCTCCCCCACCACCGCCT	0.478000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC3	22794	broad.mit.edu	37	17	38325584	38325584	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38325584C>T	uc010cwt.1	+	12	2268	c.1973C>T	c.(1972-1974)TCA>TTA	p.S658L	CASC3_uc002hue.2_Missense_Mutation_p.S658L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	658	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGGCCCCATCACAGGTATAT	0.517000												
CASC3	22794	broad.mit.edu	37	17	38325681	38325681	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38325681C>T	uc010cwt.1	+	12	2365	c.2070C>T	c.(2068-2070)ATC>ATT	p.I690I	CASC3_uc002hue.2_Silent_p.I690I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	690	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGTCACCATCAAGCCCCCTC	0.557000												
CDC6	990	broad.mit.edu	37	17	38458232	38458232	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38458232C>G	uc002huj.1	+	12	1872	c.1662C>G	c.(1660-1662)ATC>ATG	p.I554M		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	554					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						TTGGAAATATCTTAGCTACTG	0.358000												
HAP1	9001	broad.mit.edu	37	17	39888482	39888482	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:39888482C>T	uc002hxm.1	-	3	726	c.714G>A	c.(712-714)GAG>GAA	p.E238E	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.E238E|HAP1_uc002hxo.1_Silent_p.E246E|HAP1_uc002hxp.1_Silent_p.E238E	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	238	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCGGTTACCTCCTCCTTGG	0.602000												
HAP1	9001	broad.mit.edu	37	17	39890671	39890671	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:39890671C>T	uc002hxm.1	-	1	228	c.216G>A	c.(214-216)TCG>TCA	p.S72S	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.S72S|HAP1_uc002hxo.1_Silent_p.S72S|HAP1_uc002hxp.1_Silent_p.S72S	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	72					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCCAGCCTCCGAGGCCGGGC	0.697000												
KLHL10	317719	broad.mit.edu	37	17	39998198	39998198	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:39998198G>A	uc010cxr.2	+	2	460	c.318G>A	c.(316-318)CCG>CCA	p.P106P	KLHL10_uc010wfv.1_Silent_p.P100P|KLHL10_uc010wfw.1_Silent_p.P18P	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	106	BTB.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				CTATCACACCGGACAATGTGG	0.483000												
KLHL10	317719	broad.mit.edu	37	17	40001590	40001590	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:40001590G>T	uc010cxr.2	+	3	1039	c.897G>T	c.(895-897)TGG>TGT	p.W299C	KLHL10_uc010wfv.1_Missense_Mutation_p.W293C|KLHL10_uc010wfw.1_Missense_Mutation_p.W211C	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	299	Kelch 1.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				TTGGTGGCTGGAGTGGTGGGA	0.527000												
ACBD4	79777	broad.mit.edu	37	17	43220904	43220904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:43220904G>A	uc002iif.2	+	10	1228	c.884G>A	c.(883-885)TGG>TAG	p.W295*	ACBD4_uc010wjj.1_Missense_Mutation_p.G308S|ACBD4_uc002iie.2_Missense_Mutation_p.G308S|ACBD4_uc002iic.2_Nonsense_Mutation_p.W295*|ACBD4_uc010dae.2_Missense_Mutation_p.G230S	NM_001135705	NP_001129177	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	Error:Variant_position_missing_in_Q8NC06_after_alignment							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						GTCGTCCAGTGGCTCTTCCGA	0.637000												
AZI1	22994	broad.mit.edu	37	17	79167790	79167790	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:79167790G>A	uc002jzp.1	-	18	2466	c.2266C>T	c.(2266-2268)CGG>TGG	p.R756W	AZI1_uc002jzm.1_Missense_Mutation_p.R183W|AZI1_uc002jzn.1_Missense_Mutation_p.R753W|AZI1_uc002jzo.1_Missense_Mutation_p.R753W|AZI1_uc010wum.1_Missense_Mutation_p.R756W|AZI1_uc002jzq.2_5'UTR	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	756					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGCTGCTCCCGCAGCTCCTCG	0.731000												
LAMA1	284217	broad.mit.edu	37	18	7044734	7044734	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:7044734G>A	uc002knm.2	-	7	1057	c.963C>T	c.(961-963)GGC>GGT	p.G321G	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	321	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACATGTATTGCCGGAGGACA	0.468000												
KIAA0802	23255	broad.mit.edu	37	18	8813126	8813126	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:8813126C>T	uc002knr.2	+	12	2896	c.2754C>T	c.(2752-2754)AGC>AGT	p.S918S	KIAA0802_uc002knq.2_Silent_p.S877S|KIAA0802_uc002kns.2_Silent_p.S286S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1228											0						TCCATCACAGCGAGAAGAACT	0.577000												
DSG1	1828	broad.mit.edu	37	18	28914024	28914024	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:28914024C>T	uc002kwp.2	+	8	1076	c.864C>T	c.(862-864)CTC>CTT	p.L288L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	288	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CAAATTTGCTCGAGATTAGAG	0.328000												
MEX3C	51320	broad.mit.edu	37	18	48703233	48703233	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:48703233C>T	uc002lfc.3	-	2	1468	c.1468G>A	c.(1468-1470)GAA>AAA	p.E490K		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	ring finger and KH domain containing 2	490						cytoplasm|nucleus	RNA binding|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GCTAGGTCTTCTGAGCCTACA	0.458000												
NETO1	81832	broad.mit.edu	37	18	70526079	70526079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:70526079G>A	uc002lkw.2	-	4	735	c.451C>T	c.(451-453)CGA>TGA	p.R151*	NETO1_uc002lkx.1_Nonsense_Mutation_p.R150*|NETO1_uc002lky.1_Nonsense_Mutation_p.R151*|NETO1_uc002lkz.2_Nonsense_Mutation_p.R150*	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	151	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAATTGTATCGAGCTGAAAAT	0.328000												
MUC16	94025	broad.mit.edu	37	19	9068981	9068981	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:9068981G>A	uc002mkp.2	-	3	18669	c.18465C>T	c.(18463-18465)ATC>ATT	p.I6155I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6157	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTTGTGTGGCGATGGTCTTGT	0.512000												
LPHN1	22859	broad.mit.edu	37	19	14273897	14273897	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:14273897C>T	uc010xnn.1	-	6	1027	c.731G>A	c.(730-732)AGC>AAC	p.S244N	LPHN1_uc010xno.1_Missense_Mutation_p.S239N|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	244	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CGTCTCCCCGCTCTTGATGCG	0.592000												
RAB8A	4218	broad.mit.edu	37	19	16243039	16243039	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:16243039G>A	uc002ndn.3	+	8	771	c.549G>A	c.(547-549)CAG>CAA	p.Q183Q	HSH2D_uc002ndp.3_5'Flank|RAB8A_uc010xpc.1_Missense_Mutation_p.G177R|RAB8A_uc002ndo.3_Missense_Mutation_p.G62R	NM_005370	NP_005361	P61006	RAB8A_HUMAN	mel transforming oncogene	183				LEGNSPQ -> WKATAP (in Ref. 2; AAB19681).	cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			skin(1)	1						ACAGCCCCCAGGGGAGCAACC	0.443000												
PLVAP	83483	broad.mit.edu	37	19	17476312	17476312	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:17476312G>A	uc002ngk.1	-	3	1012	c.962C>T	c.(961-963)GCG>GTG	p.A321V		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CTTCTGTTTCGCCTCCTGACT	0.667000												
SLC7A9	11136	broad.mit.edu	37	19	33333149	33333149	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:33333149C>G	uc002ntv.3	-	11	1266	c.1149G>C	c.(1147-1149)TGG>TGC	p.W383C	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.W383C|SLC7A9_uc002ntw.3_Missense_Mutation_p.W174C	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	383	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CATAAAACAGCCATGCGGCAA	0.423000												
LSM14A	26065	broad.mit.edu	37	19	34706038	34706038	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:34706038G>C	uc002nvb.3	+	5	744	c.548G>C	c.(547-549)AGC>ACC	p.S183T	LSM14A_uc002nva.3_Missense_Mutation_p.S183T|LSM14A_uc010xru.1_Missense_Mutation_p.S142T|LSM14A_uc002nvc.3_5'UTR	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	183					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					GGTCGCTCAAGCCCTCAGTTA	0.433000												
ACTN4	81	broad.mit.edu	37	19	39207822	39207822	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:39207822G>A	uc002oja.1	+	10	1068	c.1009G>A	c.(1009-1011)GAC>AAC	p.D337N	ACTN4_uc010egc.1_Missense_Mutation_p.D337N	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	337	Spectrin 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGACTTCCGCGACTACCGGCG	0.622000												
MRPS12	6183	broad.mit.edu	37	19	39423241	39423241	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:39423241G>C	uc002okc.2	+	3	628	c.318G>C	c.(316-318)CAG>CAC	p.Q106H	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc002okb.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.2_Missense_Mutation_p.Q106H|MRPS12_uc002oke.2_Missense_Mutation_p.Q106H	NM_033362	NP_203526	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12 precursor	106					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome				0	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGGAGCACCAGATTGTCCTTG	0.642000												
DLL3	10683	broad.mit.edu	37	19	39994903	39994903	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:39994903C>T	uc002olx.2	+	5	903	c.845C>T	c.(844-846)CCG>CTG	p.P282L	DLL3_uc010egq.2_Missense_Mutation_p.P282L|DLL3_uc002olw.2_Missense_Mutation_p.P282L	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	282	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACGGGAACCCGTGTGCCAAT	0.647000												
SFRS16	11129	broad.mit.edu	37	19	45573800	45573800	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:45573800G>A	uc002pak.2	+	20	2061	c.1963G>A	c.(1963-1965)GAA>AAA	p.E655K	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.E593K|SFRS16_uc002pam.2_Missense_Mutation_p.E636K	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	655	Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCAGGTCGAGAATACAGCTC	0.522000												
TRPM4	54795	broad.mit.edu	37	19	49684698	49684698	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:49684698C>T	uc002pmw.2	+	10	1315	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W	TRPM4_uc010emu.2_Missense_Mutation_p.R415W|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.R241W|TRPM4_uc010emv.2_Missense_Mutation_p.R300W|TRPM4_uc010yal.1_Intron|TRPM4_uc002pmy.2_5'Flank	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	415	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGAACTCTTTCGGGGGGACAT	0.582000												
FPR2	2358	broad.mit.edu	37	19	52272135	52272135	+	Missense_Mutation	SNP	C	C	T	rs144552448		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:52272135C>T	uc002pxr.2	+	2	269	c.224C>T	c.(223-225)ACG>ATG	p.T75M	FPR2_uc002pxs.3_Missense_Mutation_p.T75M|FPR2_uc010epf.2_Missense_Mutation_p.T75M	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	75	Helical; Name=2; (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						TTTTCTTTCACGGCCACATTA	0.512000												
PXDN	7837	broad.mit.edu	37	2	1652755	1652755	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:1652755G>A	uc002qxa.2	-	17	2861	c.2797C>T	c.(2797-2799)CGC>TGC	p.R933C		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	933					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCAGGCCGCGGTGGCTGGCC	0.692000												
DHX57	90957	broad.mit.edu	37	2	39088395	39088395	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:39088395C>T	uc002rrf.2	-	5	1256	c.1157G>A	c.(1156-1158)CGT>CAT	p.R386H	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.R386H	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	386							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				AATATGTAAACGACAAGCCAG	0.403000												
PLEKHH2	130271	broad.mit.edu	37	2	43980895	43980895	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:43980895C>A	uc010yny.1	+	25	3874	c.3791C>A	c.(3790-3792)TCT>TAT	p.S1264Y		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1264	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTCTTTTATCTCAGGTAACT	0.279000												
NRXN1	9378	broad.mit.edu	37	2	51255158	51255158	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:51255158C>T	uc010fbq.2	-	2	1731	c.254G>A	c.(253-255)CGC>CAC	p.R85H	NRXN1_uc002rxe.3_Missense_Mutation_p.R85H|NRXN1_uc002rxd.1_Missense_Mutation_p.R85H	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGGCCGCCGCGCGTCAGAAT	0.667000												
FAM178B	51252	broad.mit.edu	37	2	97559780	97559780	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:97559780C>T	uc002sxl.3	-	14	1910	c.1563G>A	c.(1561-1563)TCG>TCA	p.S521S	FAM178B_uc002sxi.3_Silent_p.S12S|FAM178B_uc002sxk.3_Silent_p.S236S|FAM178B_uc002sxj.3_5'UTR	NM_001122646	NP_001116118	Q8IXR5	F178B_HUMAN	hypothetical protein LOC51252 isoform A	701											0						GCCGGCTGAGCGAGGACAGCT	0.632000												
PSD4	23550	broad.mit.edu	37	2	113950928	113950928	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:113950928G>A	uc002tjc.2	+	8	2196	c.2013G>A	c.(2011-2013)CCG>CCA	p.P671P	PSD4_uc002tjd.2_Silent_p.P292P|PSD4_uc002tje.2_Silent_p.P642P|PSD4_uc002tjf.2_Silent_p.P292P	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	671	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						ATTGCAATCCGGGGATCTTCC	0.577000												
GYPC	2995	broad.mit.edu	37	2	127451484	127451484	+	Missense_Mutation	SNP	A	A	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:127451484A>T	uc002tnq.2	+	3	307	c.151A>T	c.(151-153)ACC>TCC	p.T51S	GYPC_uc002tnr.2_Missense_Mutation_p.T32S|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	51	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CAGAATGGAGACCTCCACCCC	0.547000												
IFIH1	64135	broad.mit.edu	37	2	163174424	163174424	+	Silent	SNP	T	T	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:163174424T>G	uc002uce.2	-	1	616	c.394A>C	c.(394-396)AGA>CGA	p.R132R	IFIH1_uc002ucf.2_Silent_p.R132R	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	132	CARD 2.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						AAGACGTCTCTAACTAGAAGC	0.488000												
TTN	7273	broad.mit.edu	37	2	179432605	179432605	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:179432605G>A	uc010zfg.1	-	275	70774	c.70550C>T	c.(70549-70551)GCC>GTC	p.A23517V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A17212V|TTN_uc010zfi.1_Missense_Mutation_p.A17145V|TTN_uc010zfj.1_Missense_Mutation_p.A17020V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24444							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGATCTCTGGCTACATAGCA	0.408000												
ZSWIM2	151112	broad.mit.edu	37	2	187702135	187702135	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:187702135G>C	uc002upu.1	-	5	681	c.641C>G	c.(640-642)TCT>TGT	p.S214C		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	214					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGTTTGCTAGAGTTTTTGAA	0.393000												
MAP2	4133	broad.mit.edu	37	2	210558914	210558914	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:210558914C>A	uc002vde.1	+	7	2268	c.2020C>A	c.(2020-2022)CAC>AAC	p.H674N	MAP2_uc002vdc.1_Missense_Mutation_p.H674N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.H670N	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	674					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGGGACCTCCACAGTAAGAA	0.418000												
ITM2C	81618	broad.mit.edu	37	2	231742258	231742258	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:231742258G>A	uc002vqz.2	+	5	825	c.705G>A	c.(703-705)ACG>ACA	p.T235T	ITM2C_uc002vra.2_Silent_p.T188T|ITM2C_uc002vrb.2_Silent_p.T198T|ITM2C_uc002vrc.2_Silent_p.T124T|ITM2C_uc002vrd.2_Silent_p.T87T	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	235					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCCGGGCAACGCGGAGGCGTG	0.622000												
TGIF2	60436	broad.mit.edu	37	20	35207299	35207299	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:35207299G>A	uc002xfn.2	+	2	295	c.122G>A	c.(121-123)CGC>CAC	p.R41H	C20orf24_uc002xfo.2_Missense_Mutation_p.R41H	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	41	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)|skin(1)	2	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TACTTGCACCGCTACAACGCC	0.577000												
TOP1	7150	broad.mit.edu	37	20	39742659	39742659	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:39742659C>T	uc002xjl.2	+	15	1748	c.1502C>T	c.(1501-1503)ACT>ATT	p.T501I	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	501					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ACAGCGGACACTGTGGGCTGC	0.498000			T	NUP98	AML*							
L3MBTL	26013	broad.mit.edu	37	20	42164793	42164793	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:42164793C>T	uc010zwh.1	+	18	1962	c.1916C>T	c.(1915-1917)GCT>GTT	p.A639V	L3MBTL_uc002xkl.2_Missense_Mutation_p.A571V|L3MBTL_uc002xkm.2_Missense_Mutation_p.A571V|L3MBTL_uc010ggl.2_Missense_Mutation_p.A576V|L3MBTL_uc002xkn.1_Missense_Mutation_p.A330V|L3MBTL_uc002xko.2_Missense_Mutation_p.A223V	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	571	C2HC-type.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAGTTCACAGCTCACCATTGC	0.597000												
SPATA2	9825	broad.mit.edu	37	20	48522761	48522761	+	Missense_Mutation	SNP	C	C	T	rs143126817		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:48522761C>T	uc010gie.2	-	3	1308	c.958G>A	c.(958-960)GGC>AGC	p.G320S	SPATA2_uc002xuw.2_Missense_Mutation_p.G320S|SPATA2_uc010zyn.1_Missense_Mutation_p.G183S	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	320					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGGGCCGGGCCGTTGCTGGGG	0.647000												
SPO11	23626	broad.mit.edu	37	20	55908246	55908246	+	Missense_Mutation	SNP	T	T	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:55908246T>A	uc002xye.2	+	3	341	c.248T>A	c.(247-249)TTT>TAT	p.F83Y	SPO11_uc002xyf.2_Missense_Mutation_p.F45Y	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	83					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AATGACAGGTTTGAAGATTCT	0.333000								Editing_and_processing_nucleases				
GNAS	2778	broad.mit.edu	37	20	57430309	57430309	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:57430309G>C	uc002xzw.2	+	1	2274	c.1989G>C	c.(1987-1989)AAG>AAC	p.K663N	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGCAGAGAAGAAACGCAGTA	0.577000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
COL6A1	1291	broad.mit.edu	37	21	47421938	47421938	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr21:47421938G>A	uc002zhu.1	+	31	2122	c.2020G>A	c.(2020-2022)GTG>ATG	p.V674M	COL6A1_uc010gqd.1_Missense_Mutation_p.V5M|COL6A1_uc002zhv.1_Missense_Mutation_p.V5M|COL6A1_uc002zhw.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	674	VWFA 2.|C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCAGGAGCACGTGAGCCTGCG	0.692000												
LSS	4047	broad.mit.edu	37	21	47615619	47615619	+	Silent	SNP	G	G	A	rs114786885	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr21:47615619G>A	uc002zij.2	-	19	1867	c.1788C>T	c.(1786-1788)TTC>TTT	p.F596F	LSS_uc011afv.1_Silent_p.F585F|LSS_uc002zil.2_Silent_p.F596F|LSS_uc002zik.2_Silent_p.F516F	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	596	PFTB 3.				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					CCATACAGGCGAAGGCCTCCA	0.587000												
SSTR3	6753	broad.mit.edu	37	22	37603003	37603003	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr22:37603003G>A	uc003ara.2	-	2	902	c.840C>T	c.(838-840)AAC>AAT	p.N280N	SSTR3_uc003arb.2_Silent_p.N280N	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	280	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						GGCACACCACGTTGACGATGT	0.637000												
C22orf9	23313	broad.mit.edu	37	22	45599792	45599792	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr22:45599792C>T	uc003bfx.1	-	6	657	c.591G>A	c.(589-591)ACG>ACA	p.T197T	C22orf9_uc010gzw.1_Silent_p.T49T|C22orf9_uc003bfv.1_Silent_p.T206T|C22orf9_uc003bfw.1_Silent_p.T202T|C22orf9_uc010gzx.2_Silent_p.T179T|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	197							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		CCCCCTGGAACGTGTTGGTTT	0.587000												
BHLHE40	8553	broad.mit.edu	37	3	5024628	5024628	+	Missense_Mutation	SNP	C	C	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:5024628C>G	uc003bqf.2	+	5	797	c.490C>G	c.(490-492)CGG>GGG	p.R164G	uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_Missense_Mutation_p.R24G	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	164	Orange.					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGAGAACACTCGGGACCTGAA	0.577000												
CLASP2	23122	broad.mit.edu	37	3	33558542	33558542	+	Silent	SNP	A	A	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:33558542A>T	uc003cfu.2	-	34	4266	c.3912T>A	c.(3910-3912)TCT>TCA	p.S1304S	CLASP2_uc003cfs.2_Silent_p.S511S|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Silent_p.S904S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	1313										ovary(3)|central_nervous_system(1)	4						AAACACTAAAAGATTCTTCCT	0.358000												
TMEM42	131616	broad.mit.edu	37	3	44906554	44906554	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:44906554A>G	uc003cnz.2	+	3	371	c.362A>G	c.(361-363)TAT>TGT	p.Y121C		NM_144638	NP_653239	Q69YG0	TMM42_HUMAN	transmembrane protein 42	121						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		TATGTGCTGTATGGAGAGTGC	0.562000												
NISCH	11188	broad.mit.edu	37	3	52522419	52522419	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:52522419G>A	uc011beg.1	+	17	2983	c.2911G>A	c.(2911-2913)GTG>ATG	p.V971M	NISCH_uc003ded.3_Missense_Mutation_p.V971M|NISCH_uc003dee.3_Missense_Mutation_p.V460M|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	971					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGATGGCCACGTGCTAGAGCT	0.642000												
IMPG2	50939	broad.mit.edu	37	3	100962804	100962804	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:100962804C>T	uc003duq.1	-	13	2574	c.2371G>A	c.(2371-2373)GAG>AAG	p.E791K	IMPG2_uc011bhe.1_Missense_Mutation_p.E654K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	791	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GACAATTTCTCTAGGGAAGAA	0.433000												
ALCAM	214	broad.mit.edu	37	3	105253671	105253671	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:105253671G>A	uc003dvx.2	+	6	1252	c.712G>A	c.(712-714)GCA>ACA	p.A238T	ALCAM_uc003dvw.1_Missense_Mutation_p.A238T|ALCAM_uc003dvy.2_Missense_Mutation_p.A238T|ALCAM_uc011bhh.1_Missense_Mutation_p.A187T|ALCAM_uc010hpp.2_Missense_Mutation_p.A47T	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	238	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						TTCTGAACAGGCAGTATTTGA	0.343000												
DZIP3	9666	broad.mit.edu	37	3	108388536	108388536	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:108388536G>A	uc003dxd.2	+	22	2854	c.2432G>A	c.(2431-2433)CGT>CAT	p.R811H	DZIP3_uc003dxf.1_Missense_Mutation_p.R811H|DZIP3_uc011bhm.1_Missense_Mutation_p.R262H	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	811	Potential.				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGATTACAGCGTCAAATCCAT	0.353000												
POPDC2	64091	broad.mit.edu	37	3	119367120	119367120	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:119367120G>A	uc003ecx.1	-	3	1130	c.996C>T	c.(994-996)GAC>GAT	p.D332D	POPDC2_uc010hqw.1_Silent_p.D332D|POPDC2_uc003ecy.1_Silent_p.D150D	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	332				PDS -> ASN (in Ref. 1).		integral to membrane				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.242)		GTATGCCACTGTCTGGCCTGG	0.557000												
PLXNA1	5361	broad.mit.edu	37	3	126749100	126749100	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:126749100G>A	uc003ejg.2	+	28	5011	c.5007G>A	c.(5005-5007)AAG>AAA	p.K1669K	PLXNA1_uc003ejh.2_Silent_p.K337K	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1692	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CACTGCAGAAGTTTGTGGACG	0.632000												
TMCC1	23023	broad.mit.edu	37	3	129373845	129373845	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:129373845G>A	uc003emz.3	-	6	2114	c.1613C>T	c.(1612-1614)GCG>GTG	p.A538V	TMCC1_uc003emy.3_Missense_Mutation_p.A214V|TMCC1_uc011blc.1_Missense_Mutation_p.A359V|TMCC1_uc010htg.2_Missense_Mutation_p.A424V	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	538	Potential.					integral to membrane				skin(1)	1						GGACTGATACGCGATTTTTTC	0.423000												
NPFFR2	10886	broad.mit.edu	37	4	73013068	73013068	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr4:73013068A>T	uc003hgg.2	+	4	1206	c.1108A>T	c.(1108-1110)AAG>TAG	p.K370*	NPFFR2_uc010iig.1_Nonsense_Mutation_p.K152*|NPFFR2_uc003hgi.2_Nonsense_Mutation_p.K271*|NPFFR2_uc003hgh.2_Nonsense_Mutation_p.K268*|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	370	Cytoplasmic (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGTGTCCAGGAAGAAGCAGAA	0.493000												
GUCY1B3	2983	broad.mit.edu	37	4	156716576	156716576	+	Silent	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr4:156716576T>C	uc003ipc.2	+	7	977	c.810T>C	c.(808-810)TCT>TCC	p.S270S	GUCY1B3_uc011cio.1_Silent_p.S292S|GUCY1B3_uc011cip.1_Silent_p.S250S|GUCY1B3_uc003ipd.2_Silent_p.S198S|GUCY1B3_uc010iqf.2_Silent_p.S270S|GUCY1B3_uc010iqg.2_Silent_p.S198S|GUCY1B3_uc011ciq.1_Silent_p.S198S	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	270					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GGATCCTTTCTCACATCAATA	0.378000												
GUCY1B3	2983	broad.mit.edu	37	4	156721189	156721189	+	Silent	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr4:156721189T>C	uc003ipc.2	+	9	1305	c.1138T>C	c.(1138-1140)TTA>CTA	p.L380L	GUCY1B3_uc011cio.1_Silent_p.L402L|GUCY1B3_uc011cip.1_Silent_p.L360L|GUCY1B3_uc003ipd.2_Silent_p.L308L|GUCY1B3_uc010iqf.2_Silent_p.L380L|GUCY1B3_uc010iqg.2_Silent_p.L308L|GUCY1B3_uc011ciq.1_Silent_p.L308L	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	380					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACAGCTCACGTTAAGAGCCCT	0.408000												
PRDM9	56979	broad.mit.edu	37	5	23527808	23527808	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:23527808G>A	uc003jgo.2	+	11	2793	c.2611G>A	c.(2611-2613)GAT>AAT	p.D871N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	871	C2H2-type 14.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GGGCTTTAGCGATAGGTCAAG	0.547000										HNSCC(3;0.000094)		
RXFP3	51289	broad.mit.edu	37	5	33937024	33937024	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:33937024C>T	uc003jic.1	+	1	536	c.179C>T	c.(178-180)GCG>GTG	p.A60V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	60	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CCGGACGGCGCGCCGCCAGGA	0.701000												
EGFLAM	133584	broad.mit.edu	37	5	38463963	38463963	+	Missense_Mutation	SNP	A	A	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:38463963A>T	uc003jlc.1	+	23	3253	c.2929A>T	c.(2929-2931)AAC>TAC	p.N977Y	EGFLAM_uc003jlb.1_Missense_Mutation_p.N969Y|EGFLAM_uc003jle.1_Missense_Mutation_p.N735Y|EGFLAM_uc003jlf.1_Missense_Mutation_p.N335Y|EGFLAM_uc003jlg.1_Missense_Mutation_p.N112Y|EGFLAM_uc003jlh.1_Missense_Mutation_p.N59Y	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	977	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TCTGCACACTAACAGGCAATA	0.537000												
HSPB3	8988	broad.mit.edu	37	5	53751900	53751900	+	Missense_Mutation	SNP	T	T	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:53751900T>A	uc003jph.1	+	1	456	c.281T>A	c.(280-282)CTA>CAA	p.L94Q		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	94					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				GAAGGCTGGCTGCTGATAAAA	0.498000												
DIAPH1	1729	broad.mit.edu	37	5	140908321	140908321	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:140908321G>A	uc003llb.3	-	23	3107	c.2966C>T	c.(2965-2967)GCT>GTT	p.A989V	DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.A980V|DIAPH1_uc010jgc.1_Missense_Mutation_p.A425V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	989	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGAGCCAGCATTCATGTA	0.468000												
FAT2	2196	broad.mit.edu	37	5	150885379	150885379	+	Missense_Mutation	SNP	G	G	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:150885379G>T	uc003lue.3	-	23	12810	c.12797C>A	c.(12796-12798)CCC>CAC	p.P4266H	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P873H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4266	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGAGACAGGGGGCAACCAG	0.647000												
FLT4	2324	broad.mit.edu	37	5	180039518	180039518	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:180039518G>A	uc003mma.3	-	26	3604	c.3525C>T	c.(3523-3525)GGC>GGT	p.G1175G	FLT4_uc003mlz.3_Silent_p.G1175G	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1175	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGCCCCTGCCCTGGAGCA	0.662000									Congenital_Hereditary_Lymphedema			
SERPINB9	5272	broad.mit.edu	37	6	2890467	2890467	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:2890467G>A	uc003mug.2	-	7	1182	c.1061C>T	c.(1060-1062)CCT>CTT	p.P354L	uc003mue.2_Intron|SERPINB9_uc003muf.2_Missense_Mutation_p.P157L	NM_004155	NP_004146	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B, member 9	354					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAAAAGGAAAGGGTGGTCAGC	0.542000												
HIST1H1E	3008	broad.mit.edu	37	6	26157126	26157126	+	Missense_Mutation	SNP	G	G	T	rs149820567	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:26157126G>T	uc003ngq.2	+	1	568	c.508G>T	c.(508-510)GCG>TCG	p.A170S	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	170					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						AGCCAAAAAAGCGAAAAGCCC	0.582000												
GPX6	257202	broad.mit.edu	37	6	28478622	28478622	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:28478622G>A	uc011dlj.1	-	2	197	c.147C>T	c.(145-147)AAC>AAT	p.N49N	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	49					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	ACTCCTCGCCGTTGAGGGTGA	0.458000												
RNF5	6048	broad.mit.edu	37	6	32146405	32146405	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:32146405C>T	uc003oaj.3	+	1	244	c.117C>T	c.(115-117)GTC>GTT	p.V39V	AGPAT1_uc003oae.2_5'Flank|AGPAT1_uc011dpk.1_5'Flank|AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank|AGPAT1_uc003oai.1_5'Flank|AGPAT1_uc011dpl.1_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	39	RING-type.				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						AAGCTGTGGTCAGTGTGTGTG	0.597000												
HLA-DOA	3111	broad.mit.edu	37	6	32975853	32975853	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:32975853C>T	uc003ocr.2	-	2	344	c.268G>A	c.(268-270)GCC>ACC	p.A90T	HLA-DOA_uc010juj.2_Missense_Mutation_p.A60T|HLA-DOA_uc010jui.2_Missense_Mutation_p.A90T	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	90	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						TTGATTGCGGCGATGCCGGCC	0.642000												
HLA-DPB1	3115	broad.mit.edu	37	6	33048644	33048644	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:33048644G>A	uc003ocu.1	+	2	355	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	HLA-DPA1_uc003oct.1_5'Flank|HLA-DPB1_uc011dqn.1_RNA|HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Missense_Mutation_p.R98Q|HLA-DPB1_uc011dqq.1_5'UTR	NM_002121	NP_002112	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP	99	Extracellular (Potential).|Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				ovary(1)	1						GAGGAGAAGCGGGCAGTGCCG	0.682000												
TAPBP	6892	broad.mit.edu	37	6	33272850	33272850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:33272850G>A	uc003odx.1	-	4	955	c.784C>T	c.(784-786)CAA>TAA	p.Q262*	TAPBP_uc010jus.1_Nonsense_Mutation_p.Q280*|TAPBP_uc003ody.2_Nonsense_Mutation_p.Q262*|TAPBP_uc003odz.2_Nonsense_Mutation_p.Q262*|TAPBP_uc010jut.1_Nonsense_Mutation_p.Q175*|TAPBP_uc011drc.1_Nonsense_Mutation_p.Q262*	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	262	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						TGAAAGGGTTGAACTGTAGGC	0.587000												
GPR116	221395	broad.mit.edu	37	6	46845998	46845998	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:46845998T>C	uc003oyo.3	-	10	1470	c.1181A>G	c.(1180-1182)CAG>CGG	p.Q394R	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.Q394R|GPR116_uc010jzi.1_Missense_Mutation_p.Q66R|GPR116_uc003oyr.2_Missense_Mutation_p.Q394R	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	394	Ig-like 2.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			AACATTACCCTGACTGCAGCA	0.373000												
GCM1	8521	broad.mit.edu	37	6	52993582	52993582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:52993582C>A	uc003pbp.2	-	6	942	c.733G>T	c.(733-735)GGA>TGA	p.G245*		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	245						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					GTGATTCCTCCCAGACCATAA	0.453000												
COL12A1	1303	broad.mit.edu	37	6	75875408	75875408	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:75875408C>T	uc003phs.2	-	14	2964	c.2798G>A	c.(2797-2799)CGC>CAC	p.R933H	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	933	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCTGTAACCGCGAACCATTCC	0.408000												
SYNE1	23345	broad.mit.edu	37	6	152651714	152651714	+	Silent	SNP	G	G	A	rs146180064		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:152651714G>A	uc010kiw.2	-	78	14708	c.14106C>T	c.(14104-14106)ACC>ACT	p.T4702T	SYNE1_uc003qot.3_Silent_p.T4631T|SYNE1_uc003qou.3_Silent_p.T4702T|SYNE1_uc010kiz.2_Silent_p.T457T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4702	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)		CGGCCAGGTCGGTGGGAACTT	0.527000										HNSCC(10;0.0054)		
MAP3K4	4216	broad.mit.edu	37	6	161469819	161469819	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:161469819G>A	uc003qtn.2	+	3	657	c.515G>A	c.(514-516)GGA>GAA	p.G172E	MAP3K4_uc010kkc.1_Missense_Mutation_p.G172E|MAP3K4_uc003qto.2_Missense_Mutation_p.G172E|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	172					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCAGTGGGTGGATCTTTGCCA	0.433000												
SDK1	221935	broad.mit.edu	37	7	4116664	4116664	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:4116664C>T	uc003smx.2	+	21	3184	c.3045C>T	c.(3043-3045)AAC>AAT	p.N1015N	SDK1_uc010kso.2_Silent_p.N291N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1015	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)		ACGGCAGGAACGACTCTCGTC	0.552000												
FBXL18	80028	broad.mit.edu	37	7	5521433	5521433	+	Silent	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:5521433G>A	uc003son.3	-	5	2224	c.2130C>T	c.(2128-2130)GCC>GCT	p.A710A		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	Error:Variant_position_missing_in_Q96ME1_after_alignment										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGGTTCCTCGGCCACTCTGC	0.637000												
CYP3A4	1576	broad.mit.edu	37	7	99359710	99359710	+	Missense_Mutation	SNP	G	G	A	rs143966082		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:99359710G>A	uc003urv.1	-	11	1311	c.1207C>T	c.(1207-1209)CGT>TGT	p.R403C	CYP3A4_uc003urw.1_Missense_Mutation_p.R402C|CYP3A4_uc011kiz.1_Missense_Mutation_p.R362C|CYP3A4_uc011kja.1_Missense_Mutation_p.R354C|CYP3A4_uc011kjb.1_Missense_Mutation_p.R253C	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	403					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTTGGGTCACGGTGAAGAGCA	0.507000												
GRM8	2918	broad.mit.edu	37	7	126086384	126086384	+	Missense_Mutation	SNP	T	T	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:126086384T>G	uc003vlr.2	-	9	2784	c.2473A>C	c.(2473-2475)AGT>CGT	p.S825R	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S825R|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	825	Helical; Name=7; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACTGAAGCACTTAAACTCATG	0.388000										HNSCC(24;0.065)		
ATP6V0A4	50617	broad.mit.edu	37	7	138447126	138447126	+	Silent	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:138447126C>T	uc003vuf.2	-	6	709	c.471G>A	c.(469-471)CTG>CTA	p.L157L	ATP6V0A4_uc003vug.2_Silent_p.L157L|ATP6V0A4_uc003vuh.2_Silent_p.L157L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	157	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						CTTTCAACTCCAGGAGGCCAG	0.418000												
DPP6	1804	broad.mit.edu	37	7	154595578	154595578	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:154595578A>G	uc003wlk.2	+	14	1541	c.1412A>G	c.(1411-1413)AAC>AGC	p.N471S	DPP6_uc003wli.2_Missense_Mutation_p.N407S|DPP6_uc003wlm.2_Missense_Mutation_p.N409S|DPP6_uc011kvq.1_Missense_Mutation_p.N364S	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	471	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTCAGCCCAACAGCAGCAAC	0.557000												
CSMD1	64478	broad.mit.edu	37	8	2807839	2807839	+	Missense_Mutation	SNP	A	A	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:2807839A>C	uc011kwk.1	-	67	10621	c.10231T>G	c.(10231-10233)TTA>GTA	p.L3411V	CSMD1_uc011kwj.1_Missense_Mutation_p.L2725V|CSMD1_uc010lrg.2_Missense_Mutation_p.L1302V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3411	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCAGGAGTAAGTGGGCCTCC	0.398000												
CSMD1	64478	broad.mit.edu	37	8	3265646	3265646	+	Missense_Mutation	SNP	A	A	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:3265646A>G	uc011kwk.1	-	14	2239	c.1849T>C	c.(1849-1851)TCG>CCG	p.S617P	CSMD1_uc011kwj.1_Missense_Mutation_p.S9P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	617	Extracellular (Potential).|CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTGGCTCCGAGATAATCAAC	0.403000												
PCMTD1	115294	broad.mit.edu	37	8	52773426	52773426	+	Missense_Mutation	SNP	T	T	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:52773426T>C	uc003xqx.3	-	2	627	c.286A>G	c.(286-288)ACA>GCA	p.T96A	PCMTD1_uc003xqw.3_Missense_Mutation_p.T96A|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.T96A	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	96						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				CCCACCATTGTACTTAAATAT	0.299000												
LRRC67	286187	broad.mit.edu	37	8	67926745	67926745	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:67926745G>A	uc003xxc.2	-	3	357	c.212C>T	c.(211-213)GCC>GTC	p.A71V		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	71	LRR 2.										0						CAGATTTGTGGCATAATTCAG	0.303000												
HAS2	3037	broad.mit.edu	37	8	122626561	122626561	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:122626561C>T	uc003yph.2	-	4	1985	c.1447G>A	c.(1447-1449)GTT>ATT	p.V483I		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	483	Helical; Name=6; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GTAAACCAAACTGATACTGGA	0.398000												
CYP11B1	1584	broad.mit.edu	37	8	143958275	143958275	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:143958275G>A	uc003yxi.2	-	4	629	c.622C>T	c.(622-624)CGG>TGG	p.R208W	CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R208W|CYP11B1_uc010mey.2_Missense_Mutation_p.R279W	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	208					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGCCCAGCCGCTCTCCAAAA	0.622000									Familial_Hyperaldosteronism_type_I			
ZNF34	80778	broad.mit.edu	37	8	145999177	145999177	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:145999177G>A	uc003zdy.3	-	6	1259	c.1157C>T	c.(1156-1158)ACC>ATC	p.T386I	ZNF34_uc010mgb.2_Missense_Mutation_p.T283I|ZNF34_uc003zdx.3_Missense_Mutation_p.T365I	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTTCTCTCCGGTGTGAGTCCG	0.463000												
C9orf85	138241	broad.mit.edu	37	9	74586527	74586527	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr9:74586527G>A	uc004ain.2	+	3	544	c.316G>A	c.(316-318)GTT>ATT	p.V106I	C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_Intron|C9orf85_uc010mov.2_Intron	NM_182505	NP_872311	Q96MD7	CI085_HUMAN	hypothetical protein LOC138241	106											0						AGAAGACATTGTTATTCCGTG	0.308000												
OR13C4	138804	broad.mit.edu	37	9	107288811	107288811	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr9:107288811C>T	uc011lvn.1	-	1	680	c.680G>A	c.(679-681)CGA>CAA	p.R227Q		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CGAGTTCGTTCGCAAGATGGT	0.413000												
ORM2	5005	broad.mit.edu	37	9	117092829	117092829	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr9:117092829C>T	uc004bil.2	+	2	346	c.230C>T	c.(229-231)ACG>ATG	p.T77M	ORM1_uc011lxo.1_Intron	NM_000608	NP_000599	P19652	A1AG2_HUMAN	orosomucoid 2 precursor	77					acute-phase response|regulation of immune system process|transport	extracellular space	binding				0		Myeloproliferative disorder(63;0.163)				ACAGAGGACACGATCTTTCTC	0.502000												
DACH2	117154	broad.mit.edu	37	X	86067873	86067873	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:86067873C>A	uc004eew.2	+	8	1425	c.1255C>A	c.(1255-1257)CAA>AAA	p.Q419K	DACH2_uc004eex.2_Missense_Mutation_p.Q406K|DACH2_uc010nmq.2_Missense_Mutation_p.Q285K|DACH2_uc011mra.1_Missense_Mutation_p.Q252K|DACH2_uc010nmr.2_Missense_Mutation_p.Q200K|DACH2_uc004eey.2_Missense_Mutation_p.Q102K|DACH2_uc004eez.2_Missense_Mutation_p.Q102K	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						GGTACCAGTTCAAATTCCAAT	0.423000												
PCDH11X	27328	broad.mit.edu	37	X	91134257	91134257	+	Silent	SNP	C	C	G	rs150373189		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:91134257C>G	uc004efk.1	+	2	3863	c.3018C>G	c.(3016-3018)TCC>TCG	p.S1006S	PCDH11X_uc004efl.1_Silent_p.S1006S|PCDH11X_uc004efo.1_Silent_p.S1006S|PCDH11X_uc010nmv.1_Silent_p.S1006S|PCDH11X_uc004efm.1_Silent_p.S1006S|PCDH11X_uc004efn.1_Silent_p.S1006S|PCDH11X_uc004efh.1_Silent_p.S1006S|PCDH11X_uc004efj.1_Silent_p.S1006S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1006	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TACCTGTGTCCGTACACACCA	0.413000												
NAP1L3	4675	broad.mit.edu	37	X	92927838	92927838	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:92927838C>A	uc004efq.2	-	1	771	c.466G>T	c.(466-468)GAG>TAG	p.E156*	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	156	Glu-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TCTGTAGGCTCGTATTCTGCA	0.418000												
C1GALT1C1	29071	broad.mit.edu	37	X	119761012	119761012	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:119761012C>T	uc004esy.2	-	3	357	c.10G>A	c.(10-12)GAA>AAA	p.E4K	C1GALT1C1_uc004esz.2_Missense_Mutation_p.E4K	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	4	Cytoplasmic (Potential).					integral to membrane					0						GAGCTGCTTTCAGAAAGCATT	0.318000												
ODZ1	10178	broad.mit.edu	37	X	123637484	123637484	+	Missense_Mutation	SNP	T	T	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:123637484T>G	uc004euj.2	-	19	3435	c.3371A>C	c.(3370-3372)CAA>CCA	p.Q1124P	ODZ1_uc011muj.1_Missense_Mutation_p.Q1123P|ODZ1_uc010nqy.2_Missense_Mutation_p.Q1124P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1124	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CTCAAAACCTTGTAAAACGAC	0.378000												
DCAF12L1	139170	broad.mit.edu	37	X	125685489	125685489	+	Missense_Mutation	SNP	C	C	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:125685489C>A	uc004eul.2	-	1	1354	c.1103G>T	c.(1102-1104)GGT>GTT	p.G368V		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	368	WD 4.									skin(3)|ovary(1)	4						GGAGCCCTGACCGGTGCCCAC	0.632000												
DCAF12L1	139170	broad.mit.edu	37	X	125685509	125685509	+	Missense_Mutation	SNP	G	G	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:125685509G>C	uc004eul.2	-	1	1334	c.1083C>G	c.(1081-1083)CAC>CAG	p.H361Q		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	361	WD 4.									skin(3)|ovary(1)	4						CAGTGATGATGTGGCGGTAGA	0.617000												
USP26	83844	broad.mit.edu	37	X	132161102	132161102	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:132161102C>T	uc010nrm.1	-	6	1617	c.1147G>A	c.(1147-1149)GCT>ACT	p.A383T	USP26_uc011mvf.1_Missense_Mutation_p.A383T	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	383					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)					AACTCATGAGCATCGTTCTGT	0.353000												
ZNF449	203523	broad.mit.edu	37	X	134494366	134494366	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:134494366C>T	uc004eys.2	+	5	1087	c.922C>T	c.(922-924)CTC>TTC	p.L308F	ZNF449_uc004eyt.2_Missense_Mutation_p.L188F|ZNF449_uc004eyu.2_Missense_Mutation_p.L114F	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	308					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGAACCTCTCAACCCTAA	0.483000												
MMGT1	93380	broad.mit.edu	37	X	135049602	135049602	+	Silent	SNP	A	A	G			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:135049602A>G	uc004ezi.1	-	3	483	c.183T>C	c.(181-183)GTT>GTC	p.V61V	MMGT1_uc011mvw.1_Silent_p.V126V	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1 precursor	61	Helical; (Potential).					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0						CTGCAATATGAACTATACCGT	0.333000												
LDOC1	23641	broad.mit.edu	37	X	140271115	140271115	+	Missense_Mutation	SNP	C	C	T			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:140271115C>T	uc004fbj.2	-	1	196	c.92G>A	c.(91-93)CGG>CAG	p.R31Q		NM_012317	NP_036449	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	31					negative regulation of cell proliferation	nucleus	protein binding				0	Acute lymphoblastic leukemia(192;7.65e-05)					CACCAGCAGCCGCAGCTGTTC	0.662000												
MAGEC1	9947	broad.mit.edu	37	X	140993323	140993323	+	Missense_Mutation	SNP	G	G	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:140993323G>A	uc004fbt.2	+	4	419	c.133G>A	c.(133-135)GAC>AAC	p.D45N	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	45							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGAGAGCGACGACACCCT	0.592000										HNSCC(15;0.026)		
AFF2	2334	broad.mit.edu	37	X	148039901	148039901	+	Missense_Mutation	SNP	A	A	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:148039901A>C	uc004fcp.2	+	12	3082	c.2603A>C	c.(2602-2604)AAG>ACG	p.K868T	AFF2_uc004fcq.2_Missense_Mutation_p.K858T|AFF2_uc004fcr.2_Missense_Mutation_p.K829T|AFF2_uc011mxb.1_Missense_Mutation_p.K833T|AFF2_uc004fcs.2_Missense_Mutation_p.K835T|AFF2_uc011mxc.1_Missense_Mutation_p.K509T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	868					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAAGAAGCAGCGCCTG	0.488000												
CRB1	23418	broad.mit.edu	37	1	197404649	197404650	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:197404649_197404650delAG	uc001gtz.2	+	9	3791_3792	c.3656_3657delAG	c.(3655-3657)CAGfs	p.Q1219fs	CRB1_uc010poz.1_Frame_Shift_Del_p.Q1195fs|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Frame_Shift_Del_p.Q1107fs|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Frame_Shift_Del_p.Q700fs|CRB1_uc001gub.1_Frame_Shift_Del_p.Q868fs	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1219	EGF-like 17.|Extracellular (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GACAACTGCCAGAGTCACCAGT	0.455												
DHRS7	51635	broad.mit.edu	37	14	60616089	60616089	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:60616089delC	uc001xes.2	-	6	1138	c.954delG	c.(952-954)GAGfs	p.E318fs	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Frame_Shift_Del_p.E268fs|DHRS7_uc001xeu.2_Frame_Shift_Del_p.E318fs	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	318							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCTTAAAGTTCTCAATCCTTT	0.378												
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:7577141delC	uc002gim.2	-	8	991	c.797delG	c.(796-798)GGAfs	p.G266fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.G266fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G134fs|TP53_uc010cng.1_Frame_Shift_Del_p.G134fs|TP53_uc002gii.1_Frame_Shift_Del_p.G134fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G266fs|TP53_uc010cni.1_Frame_Shift_Del_p.G266fs|TP53_uc002gij.2_Frame_Shift_Del_p.G266fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	266	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (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.G266E(45)|p.G266R(42)|p.G266V(32)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)		
LBX2	85474	broad.mit.edu	37	2	74729922	74729924	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:74729922_74729924delCCT	uc002slw.2	-	1	520_522	c.63_65delAGG	c.(61-66)GGAGGG>GGG	p.21_22GG>G	LOC151534_uc002slx.2_RNA	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	Error:Variant_position_missing_in_Q6XYB7_after_alignment						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ACTCCGACGCCCTCCTCGACACT	0.631												
AMD1	262	broad.mit.edu	37	6	111210105	111210106	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:111210104_111210105CAT>C	uc003puk.1	+	2	564_565	c.242_243CAT>C	c.(241-243)acafs	p.T81fs	AMD1_uc011eay.1_Frame_Shift_Del_p.T12fs|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Frame_Shift_Del_p.T52fs|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	81					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	ATTTTGAAGACATGTGGTACCA	0.401												
SSPO	23145	broad.mit.edu	37	7	149486860	149486861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:149486859_149486860T>TC	uc010lpk.3	+	30	4633_4634	c.4633_4634T>TC	c.(4633-4635)tccfs	p.S1545fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1545					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGGCCCCTCCCCAGGCTCC	0.673												
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316502	+	In_Frame_Ins	INS	-	-	CTG	rs34594193		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:30316500_30316501A>ACTG	uc009xle.2	-	2	2713_2714	c.2576_2577T>CAGT	c.(2575-2577)agt>aCAGT	p.S859T	KIAA1462_uc001iux.3_In_Frame_Ins_p.S859T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_In_Frame_Ins_p.S721T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	859	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CACTCTCCTCActgctgctgct	0.569												
GSDMB	55876	broad.mit.edu	37	17	38065247	38065254	+	Frame_Shift_Del	DEL	CTCGATAG	CTCGATAG	-	rs139970728		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38065246_38065253ACTCGATAG>A	uc010cwj.3	-	4	750_757	c.619_626CTATCGAGT>T	c.(619-627)tatcgagtafs	p.Y207fs	GSDMB_uc010cwi.3_5'Flank|GSDMB_uc010cwl.3_Intron|GSDMB_uc010cwm.3_Intron|GSDMB_uc010cwk.3_Intron|GSDMB_uc002htg.3_Frame_Shift_Del_p.Y207fs|GSDMB_uc002hth.3_Frame_Shift_Del_p.Y207fs|GSDMB_uc010wem.2_Frame_Shift_Del_p.Y207fs	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	207						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						AAGCTGCTTTACTCGATAGCTCAGGACC	0.534												
SAGE1	55511	broad.mit.edu	37	X	134994051	134994052	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:134994050_134994051C>CA	uc004ezh.3	+	17	2626_2627	c.2459_2460C>CA	c.(2458-2460)gcafs	p.A820fs	SAGE1_uc010nry.1_Frame_Shift_Ins_p.A789fs|SAGE1_uc011mvv.2_Frame_Shift_Ins_p.A444fs	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	820								p.A820T(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCTGCCATGGCAAAGAAAATTA	0.381												
