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
DAB1	1600	broad.mit.edu	37	1	57602299	57602299	+	Missense_Mutation	SNP	C	C	T	rs151141316		TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:57602299C>T	uc001cys.1	-	6	897	c.223G>A	c.(223-225)GCT>ACT	p.A75T	DAB1_uc001cyt.1_Missense_Mutation_p.A75T|DAB1_uc001cyq.1_Missense_Mutation_p.A75T|DAB1_uc001cyr.1_Missense_Mutation_p.A75T|DAB1_uc009vzw.1_Missense_Mutation_p.A75T|DAB1_uc009vzx.1_Missense_Mutation_p.A75T	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	75	PID.				cell differentiation|nervous system development					skin(2)|ovary(1)	3						TTGGAACGAGCGCCAGCAACA	0.398000												
ARHGAP29	9411	broad.mit.edu	37	1	94643168	94643169	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:94643168_94643169CA>AC	uc001dqj.3	-	22	3273_3274	c.2904_2905TG>GT	c.(2902-2907)AGTGAC>AGGTAC	p.968_969SD>RY	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.534_535SG>RC	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	968_969					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GGCTACTCACCACTGAGACATG	0.391000												
ALG14	199857	broad.mit.edu	37	1	95538430	95538430	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:95538430C>T	uc001dra.2	-	1	78	c.25G>A	c.(25-27)GCG>ACG	p.A9T		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	asparagine-linked glycosylation 14 homolog	9	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity				0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CCTGCGGCCGCAGCTAGAACG	0.572000												
BCL2L15	440603	broad.mit.edu	37	1	114429206	114429206	+	Silent	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:114429206A>G	uc001edw.2	-	2	374	c.202T>C	c.(202-204)TTG>CTG	p.L68L	uc001edv.1_Intron|BCL2L15_uc001edx.2_Silent_p.L68L|BCL2L15_uc001edy.2_Intron|BCL2L15_uc001edz.1_Intron	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	pro-apoptotic Bcl-2 protein	68					apoptosis					ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGCTTCCAATTCTCCGTTG	0.418000												
PHGDH	26227	broad.mit.edu	37	1	120284422	120284422	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:120284422A>C	uc001ehz.2	+	10	1338	c.1111A>C	c.(1111-1113)AGC>CGC	p.S371R	PHGDH_uc009whm.2_Missense_Mutation_p.S269R|PHGDH_uc001eia.2_Missense_Mutation_p.S370R|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Missense_Mutation_p.S337R|PHGDH_uc001eic.2_5'Flank	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	371					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)	GAACTGCCTAAGCCCCGCAGT	0.552000												
FLG	2312	broad.mit.edu	37	1	152286041	152286041	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:152286041C>T	uc001ezu.1	-	3	1357	c.1321G>A	c.(1321-1323)GGA>AGA	p.G441R	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	441	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCCTTTCCGTGGCCTGAC	0.592000									Ichthyosis			
PGLYRP4	57115	broad.mit.edu	37	1	153303244	153303244	+	Nonstop_Mutation	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:153303244C>A	uc001fbo.2	-	9	1186	c.1121G>T	c.(1120-1122)TGA>TTA	p.*374L	PGLYRP4_uc001fbp.2_Nonstop_Mutation_p.*370L	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta	374					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)|skin(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCTTCTCTCAGTGTTTGAA	0.567000												
SPTA1	6708	broad.mit.edu	37	1	158585114	158585114	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:158585114A>G	uc001fst.1	-	48	6879	c.6680T>C	c.(6679-6681)CTG>CCG	p.L2227P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2227	Spectrin 21.				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)					ATCAAGGATCAGAGCGTCTTC	0.498000												
SPTA1	6708	broad.mit.edu	37	1	158621218	158621218	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:158621218T>C	uc001fst.1	-	24	3615	c.3416A>G	c.(3415-3417)AAG>AGG	p.K1139R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1139	Spectrin 11.				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)					ATCAGCTACCTTGTTGATATC	0.443000												
HMCN1	83872	broad.mit.edu	37	1	185892705	185892705	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:185892705T>A	uc001grq.1	+	8	1434	c.1205T>A	c.(1204-1206)TTT>TAT	p.F402Y		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	402					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAAGCTTTCTTTCTCAAAGTA	0.353000												
PLA2G4A	5321	broad.mit.edu	37	1	186948546	186948546	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:186948546A>G	uc001gsc.2	+	17	2265	c.2060A>G	c.(2059-2061)AAT>AGT	p.N687S	PLA2G4A_uc010pos.1_Missense_Mutation_p.N627S	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	687	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CAATATCCAAATCAAGCATTC	0.363000												
OBSCN	84033	broad.mit.edu	37	1	228461923	228461923	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:228461923G>A	uc009xez.1	+	19	5505	c.5461G>A	c.(5461-5463)GAG>AAG	p.E1821K	OBSCN_uc001hsn.2_Missense_Mutation_p.E1821K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1821	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGTGTGCGGCGAGCTGGGTGG	0.657000												
HIST3H2A	92815	broad.mit.edu	37	1	228645509	228645509	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:228645509G>A	uc001hsy.2	-	1	52	c.10C>T	c.(10-12)CGT>TGT	p.R4C	HIST3H2BB_uc001hsz.2_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	4					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1		Prostate(94;0.183)				TGCTTACCACGACCGGACATT	0.607000												
LYST	1130	broad.mit.edu	37	1	235918947	235918947	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:235918947G>C	uc001hxj.2	-	25	7235	c.7060C>G	c.(7060-7062)CTA>GTA	p.L2354V	LYST_uc009xga.1_5'Flank	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2354					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCATCTAATAGCTAAACAAAA	0.269000									Chediak-Higashi_syndrome			
FMN2	56776	broad.mit.edu	37	1	240370555	240370555	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:240370555T>C	uc010pyd.1	+	5	2668	c.2443T>C	c.(2443-2445)TCC>CCC	p.S815P	FMN2_uc010pye.1_Missense_Mutation_p.S819P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	815	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCACCTCCATCCCTTCTGTG	0.537000												
FMN2	56776	broad.mit.edu	37	1	240371459	240371459	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:240371459C>T	uc010pyd.1	+	5	3572	c.3347C>T	c.(3346-3348)GCG>GTG	p.A1116V	FMN2_uc010pye.1_Missense_Mutation_p.A1120V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1116	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTACCCGGAGCGGGCATACCC	0.716000												
KIAA1462	57608	broad.mit.edu	37	10	30336525	30336525	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:30336525G>A	uc001iux.2	-	1	276	c.217C>T	c.(217-219)CGC>TGC	p.R73C	KIAA1462_uc001iuy.2_Missense_Mutation_p.R73C|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.R73C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	73										ovary(4)	4						GGTGTGCTGCGGCGGCTTTCG	0.622000												
ZNF488	118738	broad.mit.edu	37	10	48371038	48371038	+	Missense_Mutation	SNP	G	G	T	rs150285927		TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:48371038G>T	uc001jex.2	+	2	668	c.506G>T	c.(505-507)CGA>CTA	p.R169L	ZNF488_uc001jey.2_Missense_Mutation_p.R62L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCAACCAAGCGACCAGCAGAG	0.582000												
PCDH15	65217	broad.mit.edu	37	10	55587203	55587203	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:55587203C>T	uc001jju.1	-	32	4712	c.4317G>A	c.(4315-4317)CCG>CCA	p.P1439P	PCDH15_uc010qhq.1_Silent_p.P1444P|PCDH15_uc010qhr.1_Silent_p.P1439P|PCDH15_uc010qhs.1_Silent_p.P1451P|PCDH15_uc010qht.1_Silent_p.P1446P|PCDH15_uc010qhu.1_Silent_p.P1439P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1436P|PCDH15_uc010qhw.1_Silent_p.P1399P|PCDH15_uc010qhx.1_Silent_p.P1368P|PCDH15_uc010qhy.1_Silent_p.P1444P|PCDH15_uc010qhz.1_Silent_p.P1439P|PCDH15_uc010qia.1_Silent_p.P1417P|PCDH15_uc010qib.1_Silent_p.P1414P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1439	Poly-Pro.|Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				gcggaggcggcggcggcggcg	0.433000										HNSCC(58;0.16)		
LRIT1	26103	broad.mit.edu	37	10	85991924	85991924	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:85991924G>A	uc001kcz.1	-	4	1653	c.1631C>T	c.(1630-1632)ACG>ATG	p.T544M		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	544	Helical; (Potential).					integral to endoplasmic reticulum membrane					0						GACAAGCAGCGTGAGAGGCAG	0.517000												
SMC3	9126	broad.mit.edu	37	10	112352843	112352843	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:112352843A>G	uc001kze.2	+	18	1951	c.1825A>G	c.(1825-1827)ATG>GTG	p.M609V		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	609	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGCTATTCCTATGATCAGCAA	0.333000												
OR52E6	390078	broad.mit.edu	37	11	5862525	5862525	+	Silent	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:5862525A>G	uc010qzq.1	-	1	603	c.603T>C	c.(601-603)GGT>GGC	p.G201G	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGCCAAGACCAAACATAA	0.483000												
TPP1	1200	broad.mit.edu	37	11	6638271	6638271	+	Nonsense_Mutation	SNP	G	G	A	rs119455955	byFrequency	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:6638271G>A	uc001mel.1	-	6	683	c.622C>T	c.(622-624)CGA>TGA	p.R208*	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_3'UTR	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	208					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AAGTTGTATCGCTTACGGATC	0.587000												
SLC5A12	159963	broad.mit.edu	37	11	26725134	26725134	+	Silent	SNP	G	G	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:26725134G>T	uc001mra.2	-	6	1078	c.765C>A	c.(763-765)GTC>GTA	p.V255V	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.V255V	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	255	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						TTGATTGATTGACCCCATAGA	0.393000												
ABTB2	25841	broad.mit.edu	37	11	34182568	34182568	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:34182568C>T	uc001mvl.1	-	11	1951	c.1721G>A	c.(1720-1722)CGG>CAG	p.R574Q		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	574							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CACCGAGTACCGCGACTGCGA	0.617000												
MS4A14	84689	broad.mit.edu	37	11	60183179	60183179	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:60183179A>C	uc001npj.2	+	5	1303	c.738A>C	c.(736-738)GAA>GAC	p.E246D	MS4A14_uc001npi.2_Missense_Mutation_p.E134D|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.E229D|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	246						integral to membrane	receptor activity			breast(1)	1						TTTCAGAGGAAGAAATTGAAC	0.388000												
SUV420H1	51111	broad.mit.edu	37	11	67938540	67938540	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:67938540A>C	uc001onm.1	-	9	1175	c.919T>G	c.(919-921)TAT>GAT	p.Y307D	SUV420H1_uc009yse.1_Translation_Start_Site|SUV420H1_uc001onn.1_Missense_Mutation_p.Y135D|SUV420H1_uc009ysf.2_Missense_Mutation_p.Y67D|SUV420H1_uc001ono.1_Missense_Mutation_p.Y307D|SUV420H1_uc001onp.2_Missense_Mutation_p.Y307D|SUV420H1_uc010rqa.1_Missense_Mutation_p.Y284D|SUV420H1_uc001onq.2_Missense_Mutation_p.Y307D	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	307	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CCATCTCCATAATAACAAGAA	0.353000												
FAT3	120114	broad.mit.edu	37	11	92087432	92087432	+	Silent	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:92087432T>C	uc001pdj.3	+	1	2171	c.2154T>C	c.(2152-2154)ATT>ATC	p.I718I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	718	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTATTCAATTAATAGACAGG	0.393000										TCGA Ovarian(4;0.039)		
FLI1	2313	broad.mit.edu	37	11	128638116	128638116	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:128638116C>T	uc010sbu.1	+	3	675	c.334C>T	c.(334-336)CCC>TCC	p.P112S	FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Missense_Mutation_p.P79S|FLI1_uc009zci.2_Missense_Mutation_p.P46S|FLI1_uc001qen.2_Missense_Mutation_p.P79S	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	112	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GAAGAATGGCCCCCCTCCTCC	0.582000			T	EWSR1	Ewing sarcoma							
IGSF9B	22997	broad.mit.edu	37	11	133802003	133802003	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:133802003T>A	uc001qgx.3	-	8	1304	c.1073A>T	c.(1072-1074)AAG>ATG	p.K358M	IGSF9B_uc001qgy.1_Missense_Mutation_p.K200M	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	358	Extracellular (Potential).|Ig-like 4.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTTGTTCCACTTGACCACGGT	0.612000												
ANO2	57101	broad.mit.edu	37	12	5708660	5708660	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:5708660G>T	uc001qnm.2	-	21	2295	c.2223C>A	c.(2221-2223)TAC>TAA	p.Y741*		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	746	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						TCATTTCCATGTACTCCGGAG	0.542000												
LTBR	4055	broad.mit.edu	37	12	6499832	6499832	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:6499832A>G	uc001qny.1	+	10	1205	c.1037A>G	c.(1036-1038)AAT>AGT	p.N346S	LTBR_uc010sfc.1_Missense_Mutation_p.N327S|LTBR_uc001qnz.1_Missense_Mutation_p.N341S	NM_002342	NP_002333	P36941	TNR3_HUMAN	lymphotoxin beta receptor precursor	346	Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			lung(2)	2						ACAGGTACCAATGGCATTCAT	0.562000												
LRRK2	120892	broad.mit.edu	37	12	40671948	40671948	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:40671948A>C	uc001rmg.3	+	18	2247	c.2126A>C	c.(2125-2127)AAA>ACA	p.K709T	LRRK2_uc001rmh.1_Missense_Mutation_p.K331T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	709					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATTACTTAAAAAATGTGATG	0.373000												
ADAMTS20	80070	broad.mit.edu	37	12	43826503	43826503	+	Silent	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:43826503A>G	uc010skx.1	-	20	2832	c.2832T>C	c.(2830-2832)GTT>GTC	p.V944V	ADAMTS20_uc001rno.1_Silent_p.V98V|ADAMTS20_uc001rnp.1_Silent_p.V98V	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	944	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTGGTCATCAACTTGAACAG	0.428000												
NEUROD4	58158	broad.mit.edu	37	12	55421113	55421113	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:55421113C>A	uc001sgp.3	+	2	1268	c.890C>A	c.(889-891)CCT>CAT	p.P297H		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	297					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						CATTCAACTCCTTTTCAGGCT	0.463000												
DNAJC14	85406	broad.mit.edu	37	12	56221845	56221845	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:56221845G>A	uc001shx.1	-	2	802	c.598C>T	c.(598-600)CGC>TGC	p.R200C	DNAJC14_uc001shu.1_Missense_Mutation_p.R200C|DNAJC14_uc009zob.1_Missense_Mutation_p.R200C|DNAJC14_uc001shy.1_Missense_Mutation_p.R200C	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	200					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						GTTGGAAAGCGGTGCCGCTGT	0.552000												
C12orf50	160419	broad.mit.edu	37	12	88376963	88376963	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:88376963G>A	uc001tam.1	-	12	1304	c.1136C>T	c.(1135-1137)ACG>ATG	p.T379M		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	379										skin(2)|ovary(1)	3						TGATGTTGACGTATATTTGTC	0.294000												
CLIP1	6249	broad.mit.edu	37	12	122801401	122801401	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:122801401A>C	uc001ucg.1	-	18	3474	c.3368T>G	c.(3367-3369)TTG>TGG	p.L1123W	CLIP1_uc001uch.1_Missense_Mutation_p.L1112W|CLIP1_uc001uci.1_Missense_Mutation_p.L1077W|CLIP1_uc001ucj.1_Missense_Mutation_p.L698W	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1123	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAGTGTGTCCAACTTAAAGAC	0.303000												
AKAP11	11215	broad.mit.edu	37	13	42876004	42876004	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr13:42876004A>T	uc001uys.1	+	8	3297	c.3122A>T	c.(3121-3123)AAG>ATG	p.K1041M		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1041					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAATCTGCTAAGGATCAACCA	0.423000												
C13orf16	121793	broad.mit.edu	37	13	111980581	111980581	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr13:111980581G>A	uc001vsa.2	+	3	239	c.110G>A	c.(109-111)CGA>CAA	p.R37Q		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	hypothetical protein LOC121793	37	Extracellular (Potential).					integral to membrane					0	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCAGGGACCGATGCCAGGAG	0.567000												
SLC7A7	9056	broad.mit.edu	37	14	23243205	23243205	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:23243205A>G	uc001wgr.3	-	9	1504	c.1366T>C	c.(1366-1368)TTT>CTT	p.F456L	SLC7A7_uc001wgs.3_Missense_Mutation_p.F456L|SLC7A7_uc001wgt.3_Missense_Mutation_p.F456L|SLC7A7_uc001wgu.3_Missense_Mutation_p.F456L|SLC7A7_uc001wgv.3_Missense_Mutation_p.F456L	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	456	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGGAAGTAAAAGGGCAGGCCT	0.517000												
MYH6	4624	broad.mit.edu	37	14	23873529	23873529	+	Silent	SNP	G	G	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:23873529G>T	uc001wjv.2	-	8	778	c.711C>A	c.(709-711)GTC>GTA	p.V237V	MYH6_uc010akp.1_Silent_p.V237V	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	237	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGTCGTTCCGGACAGTCTTGG	0.572000												
ABHD12B	145447	broad.mit.edu	37	14	51347206	51347206	+	Silent	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:51347206G>A	uc001wys.2	+	4	387	c.372G>A	c.(370-372)AAG>AAA	p.K124K	ABHD12B_uc001wyq.2_Silent_p.K17K|ABHD12B_uc001wyr.2_Silent_p.K47K|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	124							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					AAGATGCCAAGGGGAAGGACT	0.507000												
KIAA1409	57578	broad.mit.edu	37	14	94008914	94008914	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:94008914G>A	uc001ybv.1	+	11	1179	c.1096G>A	c.(1096-1098)GAT>AAT	p.D366N	KIAA1409_uc001ybs.1_Missense_Mutation_p.D366N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	543						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TATGATGGATGATGAAGTGGG	0.517000												
AK7	122481	broad.mit.edu	37	14	96887177	96887177	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:96887177T>C	uc001yfn.2	+	5	561	c.517T>C	c.(517-519)TTC>CTC	p.F173L		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	173	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TGAGGTTCCATTCACTGAAGA	0.338000												
LDHAL6B	92483	broad.mit.edu	37	15	59499721	59499721	+	Silent	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr15:59499721T>C	uc002agb.2	+	1	680	c.582T>C	c.(580-582)TAT>TAC	p.Y194Y	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	194					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	TCTTAACTTATGTAGCTTGGA	0.403000												
LBXCOR1	390598	broad.mit.edu	37	15	68118849	68118849	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr15:68118849G>A	uc002aqy.1	+	2	656	c.656G>A	c.(655-657)CGA>CAA	p.R219Q		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	228					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						CACTCGCACCGAACACCCGAC	0.567000												
ANP32A	8125	broad.mit.edu	37	15	69080237	69080237	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr15:69080237T>G	uc002arl.2	-	2	247	c.76A>C	c.(76-78)AAC>CAC	p.N26H		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	26	LRR 1.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding				0						GACCGACTGTTGTCCAGGACA	0.512000												
CNGB1	1258	broad.mit.edu	37	16	57954299	57954299	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr16:57954299G>C	uc002emt.2	-	19	1858	c.1793C>G	c.(1792-1794)CCC>CGC	p.P598R	CNGB1_uc010cdh.2_Missense_Mutation_p.P592R	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	598	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						ACAGGGCTTGGGGCTCTCCTC	0.592000												
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:7578542G>C	uc002gim.2	-	5	582	c.388C>G	c.(388-390)CTC>GTC	p.L130V	TP53_uc002gig.1_Missense_Mutation_p.L130V|TP53_uc002gih.2_Missense_Mutation_p.L130V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130V|TP53_uc010cni.1_Missense_Mutation_p.L130V|TP53_uc002gij.2_Missense_Mutation_p.L130V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37V|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	130	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (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.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(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)		ATCTTGTTGAGGGCAGGGGAG	0.552000		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)		
MYH4	4622	broad.mit.edu	37	17	10369962	10369962	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:10369962G>A	uc002gmn.2	-	3	212	c.101C>T	c.(100-102)GCC>GTC	p.A34V	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	34	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TGATGTCTTGGCATCAAAAGG	0.507000												
DNAH9	1770	broad.mit.edu	37	17	11713633	11713633	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:11713633C>A	uc002gne.2	+	45	8722	c.8654C>A	c.(8653-8655)GCC>GAC	p.A2885D	DNAH9_uc010coo.2_Missense_Mutation_p.A2179D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2885	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGACTGATGCCCAAGTGGCT	0.458000												
ARL4D	379	broad.mit.edu	37	17	41477310	41477310	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:41477310C>T	uc002idt.2	+	2	391	c.210C>T	c.(208-210)ATC>ATT	p.I70I		NM_001661	NP_001652	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	70					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CGCGTGGCATCACCTTCCAAG	0.602000												
LUC7L3	51747	broad.mit.edu	37	17	48819054	48819054	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:48819054C>G	uc002isr.2	+	5	505	c.388C>G	c.(388-390)CAG>GAG	p.Q130E	LUC7L3_uc002isp.1_Missense_Mutation_p.Q54E|LUC7L3_uc010wmw.1_Missense_Mutation_p.Q54E|LUC7L3_uc002isq.2_Missense_Mutation_p.Q130E|LUC7L3_uc002iss.2_Missense_Mutation_p.Q130E	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	130	Potential.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						AGAAAAAATTCAGGTTCTAAC	0.358000												
ACE	1636	broad.mit.edu	37	17	61557756	61557756	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:61557756C>T	uc002jau.1	+	5	736	c.714C>T	c.(712-714)GAC>GAT	p.D238D	ACE_uc010wpi.1_Silent_p.D238D|ACE_uc010ddu.1_Silent_p.D55D	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	238	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTTCGAGGACGATCTGGAAC	0.607000												
CEP192	55125	broad.mit.edu	37	18	13059147	13059147	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr18:13059147G>A	uc010xac.1	+	21	4404	c.4324G>A	c.(4324-4326)GAA>AAA	p.E1442K	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.E967K|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.E1183K	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1442										ovary(4)|pancreas(1)	5						TCATGCCACAGAAGAGATAAA	0.393000												
DCC	1630	broad.mit.edu	37	18	51053116	51053116	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr18:51053116A>T	uc002lfe.1	+	28	4828	c.4241A>T	c.(4240-4242)GAG>GTG	p.E1414V	DCC_uc010dpf.1_Missense_Mutation_p.E1047V	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1414	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAACCAACAGAGGATTCAGCC	0.483000												
CDH7	1005	broad.mit.edu	37	18	63511131	63511131	+	Silent	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr18:63511131G>A	uc002ljz.2	+	7	1390	c.1065G>A	c.(1063-1065)TTG>TTA	p.L355L	CDH7_uc002lka.2_Silent_p.L355L|CDH7_uc002lkb.2_Silent_p.L355L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	355	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TTCTGAGCTTGGGTCCGTTCA	0.473000												
MEX3D	399664	broad.mit.edu	37	19	1556548	1556548	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:1556548G>A	uc010dsn.2	-	2	970	c.970C>T	c.(970-972)CCC>TCC	p.P324S		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	324	KH 2.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTTCTCGGGCATCCCAGTG	0.697000												
ICAM4	3386	broad.mit.edu	37	19	10398776	10398776	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:10398776C>T	uc002mns.1	+	3	851	c.812C>T	c.(811-813)GCG>GTG	p.A271V	ICAM4_uc002mnr.1_Silent_p.G245G|ICAM4_uc002mnt.1_3'UTR|ICAM5_uc002mnu.3_5'Flank	NM_001544	NP_001535	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 isoform 1	271	Cytoplasmic (Potential).				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AAGTCCCAGGCGTAAAGGGGG	0.448000												
DMKN	93099	broad.mit.edu	37	19	36002331	36002331	+	Silent	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:36002331G>A	uc002nzm.3	-	5	1083	c.900C>T	c.(898-900)AGC>AGT	p.S300S	DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_RNA|DMKN_uc002oac.3_Silent_p.S300S|DMKN_uc010eeb.2_Silent_p.S300S|DMKN_uc002oaa.3_Silent_p.S300S|DMKN_uc002oab.3_Silent_p.S300S	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	300	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACTCACTGCCGCTGTCACCTc	0.338000												
CAPN12	147968	broad.mit.edu	37	19	39233065	39233065	+	Silent	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:39233065G>A	uc002ojd.1	-	3	720	c.411C>T	c.(409-411)GGC>GGT	p.G137G		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	137	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGTGGAAGACGCCTGCGTAGC	0.527000												
CLEC11A	6320	broad.mit.edu	37	19	51227348	51227348	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:51227348C>T	uc002psy.2	+	2	512	c.334C>T	c.(334-336)CTG>TTG	p.L112L		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	112					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACTTACATCCGTGAGTAACC	0.498000											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PPP2R1A	5518	broad.mit.edu	37	19	52715979	52715979	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:52715979C>T	uc002pyp.2	+	5	703	c.544C>T	c.(544-546)CGG>TGG	p.R182W	PPP2R1A_uc010ydk.1_Missense_Mutation_p.R127W|PPP2R1A_uc010epm.1_Missense_Mutation_p.R222W|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R3W	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	182	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 5.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R182W(5)		endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCCATGGTGCGGCGGGCCGC	0.547000			Mis		clear cell ovarian carcinoma							
USP29	57663	broad.mit.edu	37	19	57641483	57641483	+	Missense_Mutation	SNP	A	A	C	rs143087183	byFrequency	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:57641483A>C	uc002qny.2	+	4	1796	c.1440A>C	c.(1438-1440)GAA>GAC	p.E480D		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	480					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAAAGAAGAAGAGCTTGAAT	0.378000												
SLC30A3	7781	broad.mit.edu	37	2	27480102	27480102	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:27480102G>A	uc002rjk.2	-	5	883	c.697C>T	c.(697-699)CGG>TGG	p.R233W	SLC30A3_uc002rjj.2_Silent_p.S78S|SLC30A3_uc010ylh.1_Missense_Mutation_p.R228W	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	233	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGCCGCCCGGACGCTGGTG	0.647000												
NRXN1	9378	broad.mit.edu	37	2	50280600	50280600	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:50280600C>T	uc010fbp.2	-	4	1549	c.742G>A	c.(742-744)GAA>AAA	p.E248K	NRXN1_uc002rxb.3_Missense_Mutation_p.E985K|NRXN1_uc010fbq.2_Missense_Mutation_p.E1353K|NRXN1_uc002rxe.3_Missense_Mutation_p.E1283K	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	248	Extracellular (Potential).|Laminin G-like.				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)			GCATCGTTTTCGGCTGCCATA	0.507000												
VPS54	51542	broad.mit.edu	37	2	64189220	64189220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:64189220G>A	uc002scq.2	-	7	1145	c.982C>T	c.(982-984)CAG>TAG	p.Q328*	VPS54_uc002scp.2_Nonsense_Mutation_p.Q316*|VPS54_uc010fct.2_Nonsense_Mutation_p.Q211*	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	328					protein transport|retrograde transport, endosome to Golgi						0						TGAAGTTCCTGCTGTAGAACC	0.368000												
REG1B	5968	broad.mit.edu	37	2	79312349	79312349	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:79312349T>G	uc002sny.2	-	6	606	c.494A>C	c.(493-495)AAA>ACA	p.K165T		NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	165					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						CCTCTAGTTTTTGAACTTGCA	0.373000												
ZNF2	7549	broad.mit.edu	37	2	95847411	95847411	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:95847411C>T	uc002suf.2	+	6	1297	c.835C>T	c.(835-837)CAC>TAC	p.H279Y	ZNF2_uc002sug.2_Missense_Mutation_p.H237Y|ZNF2_uc010yue.1_Missense_Mutation_p.H242Y|ZNF2_uc010fhs.2_Missense_Mutation_p.H200Y	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	279	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CCAGAGAATTCACACTGGAGA	0.463000												
LCT	3938	broad.mit.edu	37	2	136562354	136562354	+	Missense_Mutation	SNP	C	C	T	rs139591272	byFrequency	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:136562354C>T	uc002tuu.1	-	10	4458	c.4447G>A	c.(4447-4449)GCC>ACC	p.A1483T		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1483	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGATGCTGGCGGCCAGCAGT	0.562000												
RND3	390	broad.mit.edu	37	2	151331486	151331486	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:151331486T>C	uc002txe.2	-	3	495	c.251A>G	c.(250-252)TAT>TGT	p.Y84C	RND3_uc002txf.2_Missense_Mutation_p.Y84C|RND3_uc002txg.2_Missense_Mutation_p.Y84C|RND3_uc010zbv.1_Missense_Mutation_p.Y84C|RND3_uc010zbw.1_5'UTR	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	84					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		GACATTGTCATAGTAAGGAGA	0.463000												
CHRNA1	1134	broad.mit.edu	37	2	175619140	175619140	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:175619140G>A	uc002ujd.2	-	6	500	c.422C>T	c.(421-423)GCA>GTA	p.A141V	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.A116V|CHRNA1_uc002ujf.3_Missense_Mutation_p.A116V	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	141	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GTCACCATCTGCACTACAATT	0.463000												
ITGAV	3685	broad.mit.edu	37	2	187503013	187503013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:187503013C>A	uc002upq.2	+	9	1088	c.812C>A	c.(811-813)TCA>TAA	p.S271*	ITGAV_uc010frs.2_Nonsense_Mutation_p.S235*|ITGAV_uc010zfv.1_Nonsense_Mutation_p.S225*	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	271	FG-GAP 4.|Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTTTGTTTCAGGAGTTCCA	0.338000												
DNAH7	56171	broad.mit.edu	37	2	196877623	196877623	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:196877623G>A	uc002utj.3	-	10	978	c.877C>T	c.(877-879)CGT>TGT	p.R293C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	293	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TCAACTAAACGTAATTTTCTG	0.284000												
SPEG	10290	broad.mit.edu	37	2	220312985	220312985	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:220312985G>A	uc010fwg.2	+	4	1105	c.1105G>A	c.(1105-1107)GCG>ACG	p.A369T	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	369					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGCGGGCACCGCGGAATCCCG	0.706000												
SPHKAP	80309	broad.mit.edu	37	2	229046307	229046307	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:229046307C>T	uc002vpq.2	-	1	55	c.8G>A	c.(7-9)GGC>GAC	p.G3D	SPHKAP_uc002vpp.2_Missense_Mutation_p.G3D|SPHKAP_uc010zlx.1_Missense_Mutation_p.G3D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	3						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGGGAGTTGCCATCCATTGT	0.552000												
PASK	23178	broad.mit.edu	37	2	242076420	242076420	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:242076420T>G	uc002wao.1	-	7	1228	c.1136A>C	c.(1135-1137)AAG>ACG	p.K379T	PASK_uc010zol.1_Missense_Mutation_p.K193T|PASK_uc010zom.1_Missense_Mutation_p.K344T|PASK_uc010fzl.1_Missense_Mutation_p.K379T|PASK_uc010zon.1_Missense_Mutation_p.K160T|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.K379T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	379	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCCCCACCTTGCCCAGGAG	0.657000												
SGK2	10110	broad.mit.edu	37	20	42204996	42204996	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr20:42204996C>T	uc002xkv.2	+	10	1225	c.1006C>T	c.(1006-1008)CGG>TGG	p.R336W	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.R276W|SGK2_uc010ggm.2_Missense_Mutation_p.R276W|SGK2_uc002xks.2_Missense_Mutation_p.R275W|SGK2_uc002xku.2_Missense_Mutation_p.R276W	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	336	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCAGAGGCAGCGGCTGGGCTC	0.602000												
TOX2	84969	broad.mit.edu	37	20	42574587	42574587	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr20:42574587C>T	uc002xlf.3	+	1	52	c.35C>T	c.(34-36)GCG>GTG	p.A12V	TOX2_uc010ggo.2_Intron|TOX2_uc002xle.3_Intron|TOX2_uc010ggp.2_Intron	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GTCGCGGGCGCGTTCTCTCGC	0.522000												
KCNB1	3745	broad.mit.edu	37	20	47991257	47991257	+	Silent	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr20:47991257G>A	uc002xur.1	-	2	1004	c.840C>T	c.(838-840)ACC>ACT	p.T280T	KCNB1_uc002xus.1_Silent_p.T280T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	280	Helical; Name=Segment S3; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGTTGGATTCGGTGAGGAAAA	0.522000												
SETD4	54093	broad.mit.edu	37	21	37418071	37418071	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr21:37418071A>G	uc002yuw.1	-	5	1908	c.535T>C	c.(535-537)TCT>CCT	p.S179P	SETD4_uc002yux.1_Missense_Mutation_p.S155P|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.S179P|SETD4_uc002yuy.2_Missense_Mutation_p.S179P|SETD4_uc002yuz.2_Missense_Mutation_p.S155P|SETD4_uc002yva.2_Missense_Mutation_p.S155P	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	179	SET.									large_intestine(1)|ovary(1)	2						GGCTGCAGAGAAGAGAAAAAG	0.527000												
MED15	51586	broad.mit.edu	37	22	20939222	20939222	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr22:20939222C>T	uc002zsp.2	+	15	1964	c.1884C>T	c.(1882-1884)AAC>AAT	p.N628N	MED15_uc002zsq.2_Silent_p.N588N|MED15_uc010gso.2_Silent_p.N571N|MED15_uc002zsr.2_Silent_p.N562N|MED15_uc011ahs.1_Silent_p.N562N|MED15_uc002zss.2_Silent_p.N507N|MED15_uc011ahu.1_Silent_p.N338N|MED15_uc002zst.2_Silent_p.N244N|MED15_uc002zsu.2_Silent_p.N233N	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	628					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCCTGGCCAACATCCGCTCAC	0.637000												
CCDC116	164592	broad.mit.edu	37	22	21991026	21991026	+	Silent	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr22:21991026G>A	uc002zve.2	+	5	1602	c.1509G>A	c.(1507-1509)GAG>GAA	p.E503E		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	503										ovary(1)|skin(1)	2	Colorectal(54;0.105)					GTAAACTGGAGGAGTCCAAAA	0.632000												
BCR	613	broad.mit.edu	37	22	23603674	23603674	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr22:23603674C>T	uc002zww.2	+	4	2295	c.1699C>T	c.(1699-1701)CGC>TGC	p.R567C	BCR_uc002zwx.2_Missense_Mutation_p.R567C|BCR_uc011aiy.1_Missense_Mutation_p.R156C|BCR_uc010gtx.1_Missense_Mutation_p.R70C|uc010gty.2_5'Flank	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	567	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GCTCTTCCCCCGCGTGCAGCA	0.517000			T	ABL1| FGFR1|JAK2 	CML|ALL|AML							
BAIAP2L2	80115	broad.mit.edu	37	22	38494145	38494145	+	Silent	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr22:38494145C>A	uc003auw.2	-	6	534	c.390G>T	c.(388-390)GCG>GCT	p.A130A		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	130	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					CCAGGTTGGCCGCTCGGTGGC	0.637000												
CNTN4	152330	broad.mit.edu	37	3	2861218	2861218	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:2861218G>A	uc003bpc.2	+	6	628	c.407G>A	c.(406-408)CGA>CAA	p.R136Q	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.R136Q	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	136	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTGTCCGTCGAGGTCAAGGA	0.403000												
SCN5A	6331	broad.mit.edu	37	3	38648264	38648264	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:38648264C>T	uc003cio.2	-	9	1230	c.1036G>A	c.(1036-1038)GAG>AAG	p.E346K	SCN5A_uc003cin.2_Missense_Mutation_p.E346K|SCN5A_uc003cil.3_Missense_Mutation_p.E346K|SCN5A_uc010hhi.2_Missense_Mutation_p.E346K|SCN5A_uc010hhk.2_Missense_Mutation_p.E346K|SCN5A_uc011ayr.1_Missense_Mutation_p.E346K|SCN5A_uc010hhj.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	346					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCGGGGTTCTCGCCTGCCTTT	0.602000												
CELSR3	1951	broad.mit.edu	37	3	48697258	48697258	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:48697258C>T	uc003cul.2	-	1	3091	c.2810G>A	c.(2809-2811)GGC>GAC	p.G937D	CELSR3_uc003cuf.1_Missense_Mutation_p.G1007D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	937	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTGGGATGCCATTGTCCCG	0.512000												
MST1R	4486	broad.mit.edu	37	3	49936308	49936308	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:49936308C>G	uc003cxy.3	-	3	1804	c.1540G>C	c.(1540-1542)GGG>CGG	p.G514R	MST1R_uc011bdd.1_Missense_Mutation_p.G514R|MST1R_uc011bde.1_Missense_Mutation_p.G514R|MST1R_uc011bdf.1_Intron|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	514	Extracellular (Potential).|Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACCTGGTCCCCAGAGGCAAAG	0.597000												
PRKCD	5580	broad.mit.edu	37	3	53220186	53220186	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:53220186C>T	uc003dgl.2	+	13	1443	c.1090C>T	c.(1090-1092)CTG>TTG	p.L364L	PRKCD_uc003dgm.2_Silent_p.L364L	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	364	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CCATCAGGTGCTGCTTGGAGA	0.602000												
FRMD4B	23150	broad.mit.edu	37	3	69236960	69236960	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:69236960G>A	uc003dnv.2	-	19	2170	c.1880C>T	c.(1879-1881)TCG>TTG	p.S627L	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.S279L|FRMD4B_uc011bga.1_Missense_Mutation_p.S471L	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	627						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ATTGATGGACGACTTTCTGAA	0.453000												
MRPS22	56945	broad.mit.edu	37	3	139069035	139069035	+	Silent	SNP	C	C	A	rs139990376		TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:139069035C>A	uc003etb.2	+	4	527	c.519C>A	c.(517-519)GTC>GTA	p.V173V	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Silent_p.V172V|MRPS22_uc003ete.2_Silent_p.V132V	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	173						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						GTTTTATTGTCGTCAGAGAAC	0.393000												
SGEF	26084	broad.mit.edu	37	3	153840224	153840224	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:153840224G>T	uc011bog.1	+	2	654	c.443G>T	c.(442-444)CGG>CTG	p.R148L	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.R148L	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	148	Pro-rich.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CGCCCCCCGCGGACTCCTAAC	0.701000												
SMAD1	4086	broad.mit.edu	37	4	146460992	146460992	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr4:146460992A>G	uc003ikc.2	+	3	853	c.437A>G	c.(436-438)TAT>TGT	p.Y146C	SMAD1_uc003ikd.2_Missense_Mutation_p.Y146C|SMAD1_uc010iov.2_Missense_Mutation_p.Y146C|SMAD1_uc011cic.1_Missense_Mutation_p.Y146C|SMAD1_uc003ikf.2_RNA	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	146					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					CACAGCGAATATAATCCTCAG	0.428000												
VEGFC	7424	broad.mit.edu	37	4	177632778	177632778	+	Silent	SNP	A	A	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr4:177632778A>T	uc003ius.1	-	4	1009	c.579T>A	c.(577-579)TCT>TCA	p.S193S		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	193					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGGGGCCTTGAGAGAGAGGCA	0.363000												
IRX4	50805	broad.mit.edu	37	5	1879711	1879711	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:1879711C>T	uc003jcz.2	-	4	762	c.643G>A	c.(643-645)GCA>ACA	p.A215T	IRX4_uc011cmf.1_Missense_Mutation_p.A76T	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	215					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		TTCTCGTCTGCGCACTTGTTC	0.488000												
SEMA5A	9037	broad.mit.edu	37	5	9063172	9063172	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:9063172G>A	uc003jek.2	-	18	3057	c.2345C>T	c.(2344-2346)ACG>ATG	p.T782M		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	782	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCCGTTGACCGTGTGGGCAGA	0.562000												
CTNND2	1501	broad.mit.edu	37	5	11411765	11411765	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:11411765C>T	uc003jfa.1	-	5	468	c.323_splice	c.e5-1	p.D108_splice	CTNND2_uc010itt.2_Splice_Site_p.D17_splice|CTNND2_uc011cmy.1_Splice_Site_p.D17_splice|CTNND2_uc011cmz.1_Splice_Site|CTNND2_uc010itu.1_Splice_Site	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TTTTGACCATCTGAAATGAAA	0.338000												
NIPBL	25836	broad.mit.edu	37	5	37061100	37061100	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:37061100A>G	uc003jkl.3	+	45	8339	c.7840A>G	c.(7840-7842)ATA>GTA	p.I2614V	NIPBL_uc003jkk.3_Missense_Mutation_p.I2614V|NIPBL_uc003jkn.2_Missense_Mutation_p.I307V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2614					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAAAGGAGTATAGTAAAACA	0.393000												
HMGCS1	3157	broad.mit.edu	37	5	43298983	43298983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:43298983G>A	uc003jnr.3	-	3	292	c.85C>T	c.(85-87)CAA>TAA	p.Q29*	HMGCS1_uc003jnq.3_Nonsense_Mutation_p.Q29*	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	29					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0						TCAACATATTGAGAAGGAAAA	0.443000												
PCDHA9	9752	broad.mit.edu	37	5	140229141	140229141	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:140229141C>T	uc003lhu.2	+	1	1785	c.1061C>T	c.(1060-1062)ACG>ATG	p.T354M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.T354M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	354	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATCAAAACGCTCTCGGTT	0.502000												
PCDHA10	56139	broad.mit.edu	37	5	140237415	140237415	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:140237415C>T	uc003lhx.2	+	1	1782	c.1782C>T	c.(1780-1782)CGC>CGT	p.R594R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.R594R	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	594	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAGGTGCGCGCAGTGGACG	0.672000												
PCDHB6	56130	broad.mit.edu	37	5	140532152	140532152	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:140532152T>G	uc003lir.2	+	1	2314	c.2314T>G	c.(2314-2316)TTC>GTC	p.F772V	PCDHB6_uc011dah.1_Missense_Mutation_p.F636V	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	772	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATGCCCAACTTCCCTCCTCA	0.493000												
SPINK5	11005	broad.mit.edu	37	5	147491381	147491381	+	Silent	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:147491381T>C	uc003lox.2	+	19	1816	c.1743T>C	c.(1741-1743)TGT>TGC	p.C581C	SPINK5_uc010jgs.1_Silent_p.C553C|SPINK5_uc010jgr.2_Silent_p.C562C|SPINK5_uc003low.2_Silent_p.C581C|SPINK5_uc003loy.2_Silent_p.C581C	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	581	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCCCCTGTACCAGAGAGA	0.483000												
FGF18	8817	broad.mit.edu	37	5	170863108	170863108	+	Silent	SNP	C	C	G	rs145684211		TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:170863108C>G	uc003mbk.2	+	3	618	c.81C>G	c.(79-81)GCC>GCG	p.A27A		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	27					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGGTTGCCGAGGAGAACG	0.622000												
F13A1	2162	broad.mit.edu	37	6	6266873	6266873	+	Silent	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:6266873A>G	uc003mwv.2	-	4	612	c.489T>C	c.(487-489)GCT>GCC	p.A163A	F13A1_uc011dib.1_Silent_p.A100A	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	163					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GAGTCCAGACAGCAACATACA	0.498000												
NUDT3	11165	broad.mit.edu	37	6	34256668	34256668	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:34256668T>A	uc003ojl.2	-	5	683	c.381A>T	c.(379-381)AAA>AAT	p.K127N		NM_006703	NP_006694	O95989	NUDT3_HUMAN	nudix-type motif 3	127	Nudix hydrolase.				cell-cell signaling|diadenosine polyphosphate catabolic process|diphosphoinositol polyphosphate catabolic process	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|magnesium ion binding				0						ACTGCAGCACTTTTATGGCGT	0.453000												
FAM83B	222584	broad.mit.edu	37	6	54805876	54805876	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:54805876T>A	uc003pck.2	+	5	2223	c.2107T>A	c.(2107-2109)TTG>ATG	p.L703M		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	703										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					CAAAGAAGATTTGCTGAAAAG	0.398000												
KCNQ5	56479	broad.mit.edu	37	6	73830225	73830225	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:73830225C>A	uc003pgk.2	+	8	1492	c.1145C>A	c.(1144-1146)GCA>GAA	p.A382E	KCNQ5_uc003pgj.3_Missense_Mutation_p.A382E|KCNQ5_uc011dyh.1_Missense_Mutation_p.A382E|KCNQ5_uc011dyi.1_Missense_Mutation_p.A382E|KCNQ5_uc010kat.2_Missense_Mutation_p.A382E|KCNQ5_uc011dyj.1_Missense_Mutation_p.A382E|KCNQ5_uc011dyk.1_Missense_Mutation_p.A141E	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	382					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGTAGTTACGCAGCTGATGAG	0.433000												
C6orf221	154288	broad.mit.edu	37	6	74072894	74072894	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:74072894C>T	uc003pgt.3	+	2	299	c.246C>T	c.(244-246)AAC>AAT	p.N82N		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	82	KH; atypical.									skin(2)	2						TGGACCCTAACGGCGAGGCTG	0.567000												
KIAA0415	9907	broad.mit.edu	37	7	4830888	4830888	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:4830888T>C	uc003sne.2	+	17	2379	c.2296T>C	c.(2296-2298)TTT>CTT	p.F766L	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.F243L	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	766					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CGTGGCCCAGTTTGTGCTCAC	0.687000												
TAX1BP1	8887	broad.mit.edu	37	7	27839705	27839705	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:27839705A>G	uc003szl.2	+	13	1918	c.1760A>G	c.(1759-1761)TAT>TGT	p.Y587C	TAX1BP1_uc011jzo.1_Missense_Mutation_p.Y587C|TAX1BP1_uc003szk.2_Missense_Mutation_p.Y587C|TAX1BP1_uc011jzp.1_Missense_Mutation_p.Y430C	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	587	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			CAGGACAATTATAAAGTAAGT	0.279000												
GCK	2645	broad.mit.edu	37	7	44193050	44193050	+	Silent	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:44193050G>A	uc003tkl.2	-	2	528	c.58C>T	c.(58-60)CTG>TTG	p.L20L	GCK_uc003tkj.1_Silent_p.L19L|GCK_uc003tkk.1_Silent_p.L21L	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	20					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						AACTCTGCCAGGATCTGCTCT	0.637000												
GRM3	2913	broad.mit.edu	37	7	86415918	86415918	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:86415918C>T	uc003uid.2	+	3	1909	c.810C>T	c.(808-810)CGC>CGT	p.R270R	GRM3_uc010lef.2_Silent_p.R268R|GRM3_uc010leg.2_Silent_p.R142R|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	270	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAACGCGCGCGTCGTGGTCC	0.652000												
ADAM22	53616	broad.mit.edu	37	7	87808288	87808288	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:87808288A>T	uc003ujn.2	+	27	2418	c.2339A>T	c.(2338-2340)GAT>GTT	p.D780V	ADAM22_uc003ujk.1_Missense_Mutation_p.D780V|ADAM22_uc003ujl.1_Intron|ADAM22_uc003ujm.2_Intron|ADAM22_uc003ujo.2_Intron|ADAM22_uc003ujp.1_Missense_Mutation_p.D832V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	780	Cytoplasmic (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCCTGGAGATGGTGACTCT	0.403000												
CYP3A4	1576	broad.mit.edu	37	7	99359762	99359762	+	Silent	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:99359762C>T	uc003urv.1	-	11	1259	c.1155G>A	c.(1153-1155)GGG>GGA	p.G385G	CYP3A4_uc003urw.1_Silent_p.G384G|CYP3A4_uc011kiz.1_Silent_p.G344G|CYP3A4_uc011kja.1_Silent_p.G336G|CYP3A4_uc011kjb.1_Silent_p.G235G	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	385					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)	GAATGAACATCCCATTGATCT	0.458000												
TAF6	6878	broad.mit.edu	37	7	99710533	99710533	+	Silent	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:99710533T>C	uc003uti.2	-	6	543	c.462A>G	c.(460-462)AAA>AAG	p.K154K	TAF6_uc003utg.2_Silent_p.K76K|TAF6_uc003uth.2_Silent_p.K211K|TAF6_uc003utk.2_Silent_p.K154K|TAF6_uc011kji.1_Silent_p.K191K|TAF6_uc003utj.2_Silent_p.K144K|TAF6_uc003utl.2_Silent_p.K154K|TAF6_uc003utm.2_Silent_p.K154K|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	154					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTGTTGCTCTTTGGGAGCTG	0.498000												
ZAN	7455	broad.mit.edu	37	7	100349524	100349524	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:100349524C>A	uc003uwj.2	+	14	1961	c.1796C>A	c.(1795-1797)ACC>AAC	p.T599N	ZAN_uc003uwk.2_Missense_Mutation_p.T599N|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	599	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAAAACCCACCATCTCCACA	0.463000												
CNOT4	4850	broad.mit.edu	37	7	135095396	135095396	+	Silent	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:135095396C>A	uc003vsv.1	-	7	997	c.690G>T	c.(688-690)GCG>GCT	p.A230A	CNOT4_uc003vss.2_Silent_p.A230A|CNOT4_uc011kpz.1_Silent_p.A230A|CNOT4_uc003vst.2_Silent_p.A230A|CNOT4_uc003vsu.1_Silent_p.A230A|CNOT4_uc011kpy.1_Silent_p.A230A	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	230					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						GGTGTTTACCCGCCTAACGAA	0.284000												
NUP205	23165	broad.mit.edu	37	7	135304611	135304611	+	Silent	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:135304611T>C	uc003vsw.2	+	30	4336	c.4305T>C	c.(4303-4305)CCT>CCC	p.P1435P	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1435					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CCCAGAGACCTGATGAACCAG	0.398000												
SSPO	23145	broad.mit.edu	37	7	149524040	149524040	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:149524040A>G	uc010lpk.2	+	106	14759	c.14759A>G	c.(14758-14760)GAC>GGC	p.D4920G	SSPO_uc010lpm.1_Intron|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4920					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCTCGTTGACTGTCAGGGT	0.602000												
CSMD1	64478	broad.mit.edu	37	8	2830805	2830805	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:2830805G>T	uc011kwk.1	-	57	9150	c.8760C>A	c.(8758-8760)TTC>TTA	p.F2920L	CSMD1_uc011kwj.1_Missense_Mutation_p.F2249L|CSMD1_uc010lrg.2_Missense_Mutation_p.F930L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2920	Extracellular (Potential).|Sushi 22.					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)		GATCACCACAGAATCCAGGAT	0.438000												
MSR1	4481	broad.mit.edu	37	8	16012654	16012654	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:16012654C>A	uc003wwz.2	-	6	1016	c.818_splice	c.e6-1	p.G273_splice	MSR1_uc010lsu.2_Splice_Site_p.G291_splice|MSR1_uc003wxa.2_Splice_Site_p.G273_splice|MSR1_uc003wxb.2_Splice_Site_p.G273_splice|MSR1_uc011kxz.1_Splice_Site_p.G47_splice	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1						cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCAGGAGGACCTTTAAAAAAA	0.403000												
PPP2CB	5516	broad.mit.edu	37	8	30648824	30648824	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:30648824T>C	uc003xik.2	-	7	981	c.746A>G	c.(745-747)AAT>AGT	p.N249S		NM_004156	NP_004147	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta	249					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	ATGACACCAATTGTATCCCTG	0.333000												
ANK1	286	broad.mit.edu	37	8	41552776	41552776	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:41552776C>T	uc003xok.2	-	27	3118	c.3034G>A	c.(3034-3036)GAA>AAA	p.E1012K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.E328K|ANK1_uc003xoi.2_Missense_Mutation_p.E1012K|ANK1_uc003xoj.2_Missense_Mutation_p.E1012K|ANK1_uc003xol.2_Missense_Mutation_p.E1012K|ANK1_uc003xom.2_Missense_Mutation_p.E1053K	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1012	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGCCGTTTTCGCTCCTCAGA	0.617000												
POLB	5423	broad.mit.edu	37	8	42206594	42206594	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:42206594C>T	uc003xoz.1	+	4	360	c.247C>T	c.(247-249)CGT>TGT	p.R83C	POLB_uc003xpa.1_Missense_Mutation_p.R83C|POLB_uc011lcs.1_Intron	NM_002690	NP_002681	P06746	DPOLB_HUMAN	DNA-directed DNA polymerase beta	83				R->K: Slight effect. Abolishes methylation by PRMT6 and impairs the polymerase activity; when associated with K-152.	DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			ovary(1)|breast(1)	2	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TGGAAAATTACGTAAACTGGA	0.318000								DNA_polymerases_(catalytic_subunits)				
ARFGEF1	10565	broad.mit.edu	37	8	68140335	68140335	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:68140335T>C	uc003xxo.1	-	25	3844	c.3454A>G	c.(3454-3456)ATG>GTG	p.M1152V	ARFGEF1_uc003xxl.1_Missense_Mutation_p.M606V|ARFGEF1_uc003xxn.1_Missense_Mutation_p.M135V	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1152					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATTCATCCATAGACACAGCA	0.343000												
ARFGEF1	10565	broad.mit.edu	37	8	68213553	68213553	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:68213553T>C	uc003xxo.1	-	3	608	c.218A>G	c.(217-219)AAT>AGT	p.N73S		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	73					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCAATAAAATTTGTCTTTGA	0.403000												
SPAG1	6674	broad.mit.edu	37	8	101203630	101203630	+	Missense_Mutation	SNP	G	G	A	rs144608097	by1000genomes	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:101203630G>A	uc003yjh.1	+	9	931	c.845G>A	c.(844-846)CGT>CAT	p.R282H	SPAG1_uc003yjg.1_Missense_Mutation_p.R282H|SPAG1_uc003yji.1_Missense_Mutation_p.R282H	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	282	TPR 3.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CTTCTGCGTCGTGCTACTACA	0.358000												
KCNV1	27012	broad.mit.edu	37	8	110980822	110980822	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:110980822C>T	uc003ynr.3	-	3	1340	c.998G>A	c.(997-999)CGC>CAC	p.R333H	KCNV1_uc010mcw.2_Missense_Mutation_p.R333H	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	333	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCCAAGGGAGCGTAATCCTGC	0.318000												
KANK1	23189	broad.mit.edu	37	9	742406	742406	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr9:742406G>A	uc003zgl.1	+	14	4546	c.3897_splice	c.e14+1	p.N1299_splice	KANK1_uc003zgn.1_Splice_Site_p.N1299_splice|KANK1_uc003zgs.1_Splice_Site_p.N1141_splice|KANK1_uc010mgx.1_Splice_Site_p.N277_splice|KANK1_uc010mgy.1_Splice_Site_p.N211_splice|KANK1_uc003zgt.1_Splice_Site_p.N211_splice	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a						negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGAGGACAACGTAAGCTGTCT	0.632000												
NTRK2	4915	broad.mit.edu	37	9	87635235	87635235	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr9:87635235T>G	uc004aoa.1	+	19	3177	c.2239T>G	c.(2239-2241)TTC>GTC	p.F747V	NTRK2_uc004anz.1_Missense_Mutation_p.F763V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	747	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GTGGGAGATTTTCACCTATGG	0.552000										TSP Lung(25;0.17)		
KIAA1529	57653	broad.mit.edu	37	9	100126341	100126341	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr9:100126341C>T	uc011lut.1	+	41	5233	c.4460C>T	c.(4459-4461)CCG>CTG	p.P1487L	KIAA1529_uc004axe.1_Missense_Mutation_p.P1293L|KIAA1529_uc004axg.1_Missense_Mutation_p.P1348L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Intron|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				AGCTTCACACCGCACCCCAAG	0.592000												
CACNA1B	774	broad.mit.edu	37	9	140846795	140846795	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr9:140846795T>G	uc004cog.2	+	7	1181	c.1036T>G	c.(1036-1038)TTC>GTC	p.F346V		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	346	Helical; Name=S6 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGGCTCCTTCTTCATGCTCAA	0.587000												
MXRA5	25878	broad.mit.edu	37	X	3239183	3239183	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:3239183T>A	uc004crg.3	-	5	4700	c.4543A>T	c.(4543-4545)AGT>TGT	p.S1515C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1515						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATTCTTGGACTGGGAAGTGCT	0.483000												
PCYT1B	9468	broad.mit.edu	37	X	24625971	24625971	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:24625971C>A	uc004dbi.2	-	3	458	c.225G>T	c.(223-225)AGG>AGT	p.R75S	PCYT1B_uc004dbk.3_Missense_Mutation_p.R75S|PCYT1B_uc004dbj.2_Missense_Mutation_p.R57S	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	75	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)	CTCTGACAGGCCTGTCAGCTG	0.443000												
MAGEB10	139422	broad.mit.edu	37	X	27840119	27840119	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:27840119A>C	uc004dbw.2	+	3	923	c.696A>C	c.(694-696)TTA>TTC	p.L232F		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	232	MAGE.									lung(1)|breast(1)|central_nervous_system(1)	3						CGATGGGGTTATATGACGGAA	0.468000												
ZNF41	7592	broad.mit.edu	37	X	47306848	47306848	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:47306848C>T	uc004dhs.3	-	4	2514	c.2447G>A	c.(2446-2448)CGC>CAC	p.R816H	ZNF41_uc004dhu.3_Missense_Mutation_p.R808H|ZNF41_uc004dht.3_Missense_Mutation_p.R688H|ZNF41_uc004dhv.3_Missense_Mutation_p.R784H|ZNF41_uc004dhw.3_Missense_Mutation_p.R776H|ZNF41_uc004dhy.3_Missense_Mutation_p.R774H|ZNF41_uc004dhx.3_Missense_Mutation_p.R774H|ZNF41_uc011mlm.1_Missense_Mutation_p.R688H	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	816						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				GGCTTTATAGCGTTTTTCTCC	0.428000												
ACRC	93953	broad.mit.edu	37	X	70823751	70823751	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:70823751C>G	uc004eae.2	+	8	1125	c.624C>G	c.(622-624)AAC>AAG	p.N208K	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	208	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					CCGACGACAACAGTGATGATT	0.493000												
SMARCA1	6594	broad.mit.edu	37	X	128599895	128599895	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:128599895T>G	uc004eun.3	-	22	2856	c.2743A>C	c.(2743-2745)ATT>CTT	p.I915L	SMARCA1_uc004eup.3_Missense_Mutation_p.I903L|SMARCA1_uc011muk.1_Missense_Mutation_p.I915L|SMARCA1_uc011mul.1_Missense_Mutation_p.I903L	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	915					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						TGAGCCATAATTTTCTCAATG	0.333000												
SAGE1	55511	broad.mit.edu	37	X	134983830	134983830	+	Missense_Mutation	SNP	C	C	T	rs143643223	byFrequency	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:134983830C>T	uc004ezh.2	+	3	367	c.200C>T	c.(199-201)TCG>TTG	p.S67L	SAGE1_uc010nry.1_Missense_Mutation_p.S67L|SAGE1_uc011mvv.1_Missense_Mutation_p.S67L	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	67										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AGTATGTCCTCGTGGTTAGAC	0.428000												
HIP1R	9026	broad.mit.edu	37	12	123345886	123345887	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:123345886_123345887insG	uc001udj.1	+	31	3043_3044	c.2984_2985insG	c.(2983-2985)GAGfs	p.E995fs	HIP1R_uc001udk.1_Frame_Shift_Ins_p.E260fs	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	995	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AAGACGCTGGAGGCTGAACGCA	0.673												
SBK2	646643	broad.mit.edu	37	19	56041169	56041169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:56041169delC	uc010ygc.1	-	3	978	c.978delG	c.(976-978)GGGfs	p.G326fs		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	326	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0						TCCAGGGGCGCCCCAGGTGCT	0.736												
CRTAP	10491	broad.mit.edu	37	3	33161979	33161980	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:33161979_33161980delAT	uc003cfl.3	+	2	735_736	c.615_616delAT	c.(613-618)TCATATfs	p.S205fs	CRTAP_uc010hfz.2_Frame_Shift_Del_p.S205fs|CRTAP_uc003cfm.2_Frame_Shift_Del_p.S26fs|CRTAP_uc003cfn.2_Frame_Shift_Del_p.S26fs	NM_006371	NP_006362	O75718	CRTAP_HUMAN	cartilage associated protein precursor	205_206						proteinaceous extracellular matrix	binding				0						aaaccaagtcatatgaagtatg	0.238												
FAT4	79633	broad.mit.edu	37	4	126412322	126412324	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr4:126412322_126412324delCTC	uc003ifj.3	+	17	14345_14347	c.14345_14347delCTC	c.(14344-14349)TCTCCT>TCT	p.P4784del	FAT4_uc011cgp.1_In_Frame_Del_p.P3025del|FAT4_uc003ifi.1_In_Frame_Del_p.P2261del	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4784	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTGGAATCTTCTCCTCCAGTCGG	0.527												
CADPS2	93664	broad.mit.edu	37	7	122255279	122255279	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:122255279delT	uc010lkp.2	-	6	1342	c.1179delA	c.(1177-1179)GAAfs	p.E393fs	CADPS2_uc003vkg.3_Frame_Shift_Del_p.E93fs|CADPS2_uc010lkq.2_Frame_Shift_Del_p.E393fs	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	393	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						GTTTTTCTCCTTCCACTTCCA	0.373												
PREPL	9581	broad.mit.edu	37	2	44549026	44549026	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:44549025_44549025TA>T	uc002ruf.3	-	12	2994	c.2035_2035TA>A	c.(2035-2037)aatfs	p.N679fs	PREPL_uc002rug.3_Frame_Shift_Del_p.N613fs|PREPL_uc002ruh.3_Frame_Shift_Del_p.N617fs|PREPL_uc010fax.3_Frame_Shift_Del_p.N679fs|PREPL_uc002rui.4_Frame_Shift_Del_p.N590fs|PREPL_uc002ruj.2_Frame_Shift_Del_p.N590fs|PREPL_uc002ruk.2_Frame_Shift_Del_p.N679fs	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	679					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAATAATATTAGGGGTCTGA	0.413												
TFB1M	51106	broad.mit.edu	37	6	155632370	155632373	+	Frame_Shift_Del	DEL	AGCG	AGCG	-			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:155632369_155632372CAGCG>C	uc003qqj.4	-	1	290_293	c.235_238CGCTG>G	c.(235-240)gctgaafs	p.A79fs	TFB1M_uc003qqk.3_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	Homo sapiens transcription factor B1, mitochondrial (TFB1M), nuclear gene encoding mitochondrial protein, mRNA.	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		ACCAGAAGTTCAGCGACGTCGGCA	0.426												
TBK1	29110	broad.mit.edu	37	12	64891001	64891003	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:64891000_64891002TGAA>T	uc001ssc.2	+	17	2079_2081	c.1920_1922TGAA>T	c.(1918-1923)attgaa>atTa	p.E643del		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	643					I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GTTTTGATATTGAAGAAGAAGTA	0.310												
HIP1R	9026	broad.mit.edu	37	12	123345887	123345888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:123345886_123345887A>AG	uc001udj.1	+	30	3043_3044	c.2984_2985A>AG	c.(2983-2985)gagfs	p.E995fs	HIP1R_uc001udk.1_Frame_Shift_Ins_p.E260fs	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	995	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AAGACGCTGGAGGCTGAACGCA	0.673												
ZNF609	23060	broad.mit.edu	37	15	64967247	64967248	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr15:64967246_64967247C>CA	uc002ann.3	+	3	2193_2194	c.2193_2194C>CA	c.(2191-2196)gacaaafs	p.D731fs		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	731	Poly-Lys.					nucleus	zinc ion binding	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.490