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
CSMD2	114784	broad.mit.edu	37	1	34090854	34090854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:34090854G>A	uc001bxn.1	-	34	5206	c.5177C>T	c.(5176-5178)GCG>GTG	p.A1726V	CSMD2_uc001bxm.1_Missense_Mutation_p.A1766V|CSMD2_uc001bxo.1_Missense_Mutation_p.A639V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1726	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGAGGAACCGCTGTGGGGGA	0.632000												
CHIA	27159	broad.mit.edu	37	1	111862020	111862020	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:111862020C>T	uc001eas.2	+	11	1210	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	CHIA_uc001ear.2_Silent_p.G261G|CHIA_uc001eaq.2_Silent_p.G261G|CHIA_uc009wgc.2_Silent_p.G261G|CHIA_uc001eat.2_Silent_p.G208G|CHIA_uc001eav.2_Silent_p.G208G|CHIA_uc001eau.2_Silent_p.G208G|CHIA_uc009wgd.2_Silent_p.G208G	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	369					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACTTCACTGGCACTTTCTGCA	0.512000												
FLG2	388698	broad.mit.edu	37	1	152327441	152327441	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:152327441T>G	uc001ezw.3	-	3	2894	c.2821A>C	c.(2821-2823)AGT>CGT	p.S941R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	941	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAACTTGACCCATGT	0.493000												
INTS3	65123	broad.mit.edu	37	1	153723611	153723611	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:153723611G>A	uc009wom.2	+	8	846	c.625G>A	c.(625-627)GTT>ATT	p.V209I	INTS3_uc001fct.2_Missense_Mutation_p.V209I|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Missense_Mutation_p.V3I|INTS3_uc010peb.1_Missense_Mutation_p.V3I|INTS3_uc001fcw.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	210					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCATGGCTGTTTACACGTA	0.557000												
PAPPA2	60676	broad.mit.edu	37	1	176563946	176563946	+	Silent	SNP	T	T	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:176563946T>G	uc001gkz.2	+	3	2370	c.1206T>G	c.(1204-1206)TCT>TCG	p.S402S	PAPPA2_uc001gky.1_Silent_p.S402S|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	402					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TCATGGCATCTTGCCGCTCTT	0.587000												
KCNT2	343450	broad.mit.edu	37	1	196342281	196342281	+	Silent	SNP	G	G	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:196342281G>T	uc001gtd.1	-	14	1452	c.1392C>A	c.(1390-1392)ACC>ACA	p.T464T	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.T464T|KCNT2_uc001gtf.1_Silent_p.T464T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.T464T|KCNT2_uc009wyv.1_Silent_p.T439T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	464	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GCCCTCTAGAGGTATGAACCA	0.313000												
CFH	3075	broad.mit.edu	37	1	196695659	196695659	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:196695659A>G	uc001gtj.3	+	13	2173	c.1933A>G	c.(1933-1935)ACG>GCG	p.T645A		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	645	Sushi 11.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TAAGGAAAAAACGAAAGAAGA	0.353000												
GPATCH2	55105	broad.mit.edu	37	1	217622646	217622646	+	Silent	SNP	C	C	T	rs34341444		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:217622646C>T	uc001hlf.1	-	9	1407	c.1311G>A	c.(1309-1311)ACG>ACA	p.T437T	GPATCH2_uc009xdq.1_RNA	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	437						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TGATATCTCCCGTGCATAAGG	0.383000												
DIP2C	22982	broad.mit.edu	37	10	486827	486827	+	Silent	SNP	G	G	A	rs139321678	byFrequency	TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:486827G>A	uc001ifp.2	-	4	468	c.378C>T	c.(376-378)GAC>GAT	p.D126D	DIP2C_uc009xhk.1_Missense_Mutation_p.T128M	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	126						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTGTAGGCGTCCATCGAGG	0.607000												
ITIH5	80760	broad.mit.edu	37	10	7621729	7621729	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:7621729C>T	uc001ijq.2	-	9	1486	c.1407G>A	c.(1405-1407)TCG>TCA	p.S469S	ITIH5_uc001ijp.2_Silent_p.S255S|ITIH5_uc001ijr.1_Silent_p.S469S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	469	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CGATGAGCTGCGAGCCTGCGT	0.612000												
PCDH15	65217	broad.mit.edu	37	10	55698634	55698634	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:55698634A>C	uc001jju.1	-	25	3709	c.3314T>G	c.(3313-3315)CTT>CGT	p.L1105R	PCDH15_uc010qhq.1_Missense_Mutation_p.L1110R|PCDH15_uc010qhr.1_Missense_Mutation_p.L1105R|PCDH15_uc010qhs.1_Missense_Mutation_p.L1117R|PCDH15_uc010qht.1_Missense_Mutation_p.L1112R|PCDH15_uc010qhu.1_Missense_Mutation_p.L1105R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1105R|PCDH15_uc010qhw.1_Missense_Mutation_p.L1068R|PCDH15_uc010qhx.1_Missense_Mutation_p.L1034R|PCDH15_uc010qhy.1_Missense_Mutation_p.L1110R|PCDH15_uc010qhz.1_Missense_Mutation_p.L1105R|PCDH15_uc010qia.1_Missense_Mutation_p.L1083R|PCDH15_uc010qib.1_Missense_Mutation_p.L1083R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1105	Cadherin 10.|Extracellular (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)				TTGGACTCGAAGTACATAGCT	0.368000										HNSCC(58;0.16)		
HELLS	3070	broad.mit.edu	37	10	96348000	96348000	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:96348000C>T	uc001kjt.2	+	13	1446	c.1341C>T	c.(1339-1341)TTC>TTT	p.F447F	HELLS_uc001kjs.2_Silent_p.F431F|HELLS_uc009xul.2_Silent_p.F349F|HELLS_uc009xum.2_Silent_p.F317F|HELLS_uc009xun.2_Silent_p.F323F|HELLS_uc009xuo.2_Silent_p.F493F|HELLS_uc001kju.2_Silent_p.F86F|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Silent_p.F309F|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	447					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TAACACCTTTCTTATTGAGAA	0.328000												
CPXM2	119587	broad.mit.edu	37	10	125557575	125557575	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:125557575C>T	uc001lhk.1	-	6	1131	c.806G>A	c.(805-807)CGC>CAC	p.R269H	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	269	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCGGATGTAGCGGGCCACCAT	0.502000												
GPR123	84435	broad.mit.edu	37	10	134941940	134941940	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr10:134941940G>A	uc001llx.3	+	7	1044	c.608G>A	c.(607-609)CGC>CAC	p.R203H	GPR123_uc001llw.2_Missense_Mutation_p.R922H	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	203	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAGCTGCGGCGCCACCCAGGG	0.721000												
TMEM151A	256472	broad.mit.edu	37	11	66062277	66062277	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:66062277G>A	uc001ohl.2	+	2	672	c.560G>A	c.(559-561)CGC>CAC	p.R187H		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	187						integral to membrane				central_nervous_system(1)	1						GCTGACAGCCGCACGGCCCGC	0.697000												
ARAP1	116985	broad.mit.edu	37	11	72421453	72421453	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:72421453C>G	uc001osu.2	-	10	1582	c.1393G>C	c.(1393-1395)GTG>CTG	p.V465L	ARAP1_uc001osv.2_Missense_Mutation_p.V465L|ARAP1_uc001osr.2_Missense_Mutation_p.V225L|ARAP1_uc001oss.2_Missense_Mutation_p.V220L|ARAP1_uc009yth.2_Missense_Mutation_p.V220L|ARAP1_uc010rre.1_Missense_Mutation_p.V220L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	465	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						TAGAGCTGCACTTTGTCCCCG	0.602000												
PCSK7	9159	broad.mit.edu	37	11	117100244	117100244	+	Missense_Mutation	SNP	G	G	A	rs75310602		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:117100244G>A	uc001pqr.2	-	3	518	c.317C>T	c.(316-318)CCG>CTG	p.P106L		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	106					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTCCAGGGCCGGCCTGTGCCC	0.667000			T	IGH@	MLCLS							
PHLDB1	23187	broad.mit.edu	37	11	118502879	118502879	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:118502879G>A	uc001ptr.1	+	10	2598	c.2245G>A	c.(2245-2247)GAA>AAA	p.E749K	PHLDB1_uc001pts.2_Missense_Mutation_p.E749K|PHLDB1_uc001ptt.2_Missense_Mutation_p.E749K|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.E549K|PHLDB1_uc001ptw.1_Missense_Mutation_p.E151K|PHLDB1_uc009zai.1_Intron|PHLDB1_uc001ptx.1_5'UTR	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	749	Potential.										0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCCAGGCCGAAATGGAGCG	0.632000												
VPS11	55823	broad.mit.edu	37	11	118938709	118938709	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr11:118938709C>T	uc010ryx.1	+	1	217	c.175C>T	c.(175-177)CTG>TTG	p.L59L	VPS11_uc010ryy.1_5'UTR	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	59					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCGAGGGAGCCTGGTCTTTGG	0.592000												
CLEC1A	51267	broad.mit.edu	37	12	10233947	10233947	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:10233947C>G	uc001qxb.2	-	3	364	c.280G>C	c.(280-282)GGA>CGA	p.G94R	CLEC1A_uc009zhf.2_Missense_Mutation_p.G6R|CLEC1A_uc001qxc.2_Missense_Mutation_p.G6R|CLEC1A_uc001qxd.2_Missense_Mutation_p.G51R|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	94	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						GACGTATTTCCTAATCTTTCT	0.418000												
NEUROD4	58158	broad.mit.edu	37	12	55420636	55420636	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:55420636C>T	uc001sgp.3	+	2	791	c.413C>T	c.(412-414)GCT>GTT	p.A138V		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	138	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						TATATTTGGGCTTTATCTGAA	0.502000												
KCNC2	3747	broad.mit.edu	37	12	75444552	75444552	+	Silent	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:75444552G>A	uc001sxg.1	-	3	1777	c.1233C>T	c.(1231-1233)AAC>AAT	p.N411N	KCNC2_uc009zry.2_Silent_p.N411N|KCNC2_uc001sxe.2_Silent_p.N411N|KCNC2_uc001sxf.2_Silent_p.N411N|KCNC2_uc010stw.1_Silent_p.N411N	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	411					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						CTGAAGGGTCGTTAGGTTGAG	0.453000												
LIN7A	8825	broad.mit.edu	37	12	81205323	81205323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:81205323C>T	uc001szj.1	-	5	816	c.623G>A	c.(622-624)CGT>CAT	p.R208H	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	208					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						CTGCTGCCGACGCCTGGCTGT	0.403000												
RPH3A	22895	broad.mit.edu	37	12	113328750	113328750	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr12:113328750C>T	uc010syl.1	+	19	2079	c.1717C>T	c.(1717-1719)CGC>TGC	p.R573C	RPH3A_uc001ttz.2_Missense_Mutation_p.R573C|RPH3A_uc001tty.2_Missense_Mutation_p.R569C|RPH3A_uc009zwe.1_Missense_Mutation_p.R568C|RPH3A_uc010sym.1_Missense_Mutation_p.R524C|RPH3A_uc001tua.2_Missense_Mutation_p.R333C	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	573	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGCATCATACGCTGCGTGCA	0.582000												
TUBA3C	7278	broad.mit.edu	37	13	19752452	19752452	+	Silent	SNP	G	G	A	rs114178008		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr13:19752452G>A	uc009zzj.2	-	3	358	c.309C>T	c.(307-309)TAC>TAT	p.Y103Y		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	103					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCTCTGGCGTAATTATTGG	0.527000												
N4BP2L2	10443	broad.mit.edu	37	13	33016958	33016958	+	Silent	SNP	T	T	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr13:33016958T>G	uc010abe.1	-	7	1738	c.1716A>C	c.(1714-1716)GGA>GGC	p.G572G	N4BP2L2_uc001uug.2_Silent_p.G455G|N4BP2L2_uc010abd.1_Silent_p.G485G|N4BP2L2_uc001uuh.2_Silent_p.G403G|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.G557G	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AATAACGCTGTCCATCAATAT	0.323000												
ARHGEF7	8874	broad.mit.edu	37	13	111767941	111767941	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr13:111767941C>A	uc001vrs.2	+	1	318	c.68C>A	c.(67-69)ACC>AAC	p.T23N	ARHGEF7_uc001vrr.2_Missense_Mutation_p.T23N|ARHGEF7_uc001vrt.2_Missense_Mutation_p.T23N	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	23	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCCAAAAAAACCATCTCGGAC	0.652000												
RPL10L	140801	broad.mit.edu	37	14	47120473	47120473	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr14:47120473T>C	uc001wwg.2	-	1	556	c.467A>G	c.(466-468)AAG>AGG	p.K156R		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	156					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GAACTTGAACTTGGCCCTGCG	0.512000												
NGB	58157	broad.mit.edu	37	14	77732917	77732917	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr14:77732917C>T	uc001xtg.1	-	4	793	c.418G>A	c.(418-420)GTA>ATA	p.V140I		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	neuroglobin	140	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GCCTGCACTACGGCCCCGTAG	0.622000												
UNC45A	55898	broad.mit.edu	37	15	91488262	91488262	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr15:91488262A>G	uc002bqg.2	+	9	1508	c.1168A>G	c.(1168-1170)AAT>GAT	p.N390D	UNC45A_uc002bqd.2_Missense_Mutation_p.N375D|UNC45A_uc010uqr.1_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	390					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGAGAGGGAGAATTTCCACAG	0.517000												
CACNA1H	8912	broad.mit.edu	37	16	1248716	1248716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr16:1248716G>A	uc002cks.2	+	6	993	c.745G>A	c.(745-747)GTC>ATC	p.V249I	CACNA1H_uc002ckt.2_Missense_Mutation_p.V249I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	249	Helical; Name=S5 of repeat I; (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CATCGTTGGCGTCCAGCTCTG	0.478000												
CCDC64B	146439	broad.mit.edu	37	16	3080765	3080765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr16:3080765C>T	uc002ctf.3	-	3	592	c.547G>A	c.(547-549)GGA>AGA	p.G183R	CCDC64B_uc002cte.3_5'UTR|CCDC64B_uc010bta.1_Silent_p.G82G	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	183	Potential.										0						TGGCACTGTCCCCGAAGGGCG	0.632000												
GP2	2813	broad.mit.edu	37	16	20335362	20335362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr16:20335362G>A	uc002dgv.2	-	3	394	c.311C>T	c.(310-312)TCG>TTG	p.S104L	GP2_uc002dgw.2_Missense_Mutation_p.S104L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	104						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						ACAGGTCTCCGACATCCTTAC	0.592000												
SLC12A3	6559	broad.mit.edu	37	16	56904589	56904589	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr16:56904589G>A	uc010ccm.2	+	6	822	c.793G>A	c.(793-795)GTG>ATG	p.V265M	SLC12A3_uc002ekd.3_Missense_Mutation_p.V265M|SLC12A3_uc010ccn.2_Missense_Mutation_p.V264M	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	265	Helical; (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CATCATTGCCGTGGTCTCGGT	0.617000												
DULLARD	23399	broad.mit.edu	37	17	7147528	7147528	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:7147528G>C	uc002gfd.2	-	8	1091	c.711C>G	c.(709-711)AAC>AAG	p.N237K	GABARAP_uc002gfb.2_5'Flank|DULLARD_uc002gfe.2_Missense_Mutation_p.N237K|DULLARD_uc002gff.2_Missense_Mutation_p.N237K|DULLARD_uc002gfc.2_RNA	NM_001143775	NP_001137247	O95476	CNEP1_HUMAN	dullard homolog	237					nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity				0						GTTGGTGAAGGTTTCGGCTCA	0.562000												
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:7577082C>T	uc002gim.2	-	8	1050	c.856G>A	c.(856-858)GAA>AAA	p.E286K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	286	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(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)		AGATTCTCTTCCTCTGTGCGC	0.557000		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)		
IMP5	162540	broad.mit.edu	37	17	43924090	43924090	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:43924090C>T	uc010wka.1	+	1	1818	c.1818C>T	c.(1816-1818)GAC>GAT	p.D606D	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	606	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GCTGGAGTGACGCCCACTTGG	0.577000												
NOTUM	147111	broad.mit.edu	37	17	79910990	79910990	+	Silent	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:79910990G>A	uc010wvg.1	-	11	1610	c.1338C>T	c.(1336-1338)AAC>AAT	p.N446N		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	446						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCATGAGGGGTTGCAGTGGG	0.657000												
SLC16A3	9123	broad.mit.edu	37	17	80195301	80195301	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:80195301G>A	uc002kea.2	+	4	794	c.655G>A	c.(655-657)GAC>AAC	p.D219N	SLC16A3_uc002kee.2_Missense_Mutation_p.D219N|SLC16A3_uc002keb.2_Missense_Mutation_p.D219N|SLC16A3_uc002kec.2_Missense_Mutation_p.D219N|SLC16A3_uc002ked.2_Missense_Mutation_p.D219N	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	219	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GCGCCTGCTAGACCTGAGCGT	0.701000												
EPB41L3	23136	broad.mit.edu	37	18	5397266	5397266	+	Missense_Mutation	SNP	C	C	T	rs140662824		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:5397266C>T	uc002kmt.1	-	18	2718	c.2632G>A	c.(2632-2634)GGG>AGG	p.G878R	EPB41L3_uc010wzh.1_Missense_Mutation_p.G709R|EPB41L3_uc002kmu.1_Missense_Mutation_p.G656R|EPB41L3_uc010dkq.1_Missense_Mutation_p.G547R|EPB41L3_uc002kms.1_Missense_Mutation_p.G113R|EPB41L3_uc010wze.1_Missense_Mutation_p.G183R|EPB41L3_uc010wzf.1_Missense_Mutation_p.G175R|EPB41L3_uc010wzg.1_Missense_Mutation_p.G150R|EPB41L3_uc010dkr.2_Missense_Mutation_p.G270R	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	878	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GCAGCATCCCCGCTGTCTCCC	0.617000												
CTAGE1	64693	broad.mit.edu	37	18	19995683	19995683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:19995683C>A	uc002ktv.1	-	1	2196	c.2092G>T	c.(2092-2094)GGA>TGA	p.G698*		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	698	Pro-rich.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGAGAAGCTCCAAACACGGTT	0.473000												
RIOK3	8780	broad.mit.edu	37	18	21053570	21053570	+	Silent	SNP	A	A	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:21053570A>G	uc002kui.3	+	8	1610	c.993A>G	c.(991-993)AAA>AAG	p.K331K	RIOK3_uc010dls.2_Silent_p.K331K|RIOK3_uc010xas.1_Silent_p.K315K|RIOK3_uc010xat.1_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	331	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGGCAGAAAAAGAAATGCACA	0.323000												
ZNF521	25925	broad.mit.edu	37	18	22804824	22804824	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:22804824A>C	uc002kvk.2	-	4	3305	c.3058T>G	c.(3058-3060)TTT>GTT	p.F1020V	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.F1020V|ZNF521_uc002kvl.2_Missense_Mutation_p.F800V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1020	C2H2-type 24.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACGCAGCGAAAGCCTGTCAGG	0.502000			T	PAX5	ALL							
ZNF516	9658	broad.mit.edu	37	18	74091693	74091693	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr18:74091693G>C	uc010dqx.1	-	3	2612	c.2377C>G	c.(2377-2379)CCG>GCG	p.P793A	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	793					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGAATCCACGGGGGAGCCACG	0.597000												
TMPRSS9	360200	broad.mit.edu	37	19	2422066	2422066	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:2422066C>G	uc010xgx.1	+	13	2267	c.2267C>G	c.(2266-2268)CCC>CGC	p.P756R		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	756	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		ACCACCAGCCCCAGGACGACA	0.657000												
MAP1S	55201	broad.mit.edu	37	19	17836661	17836661	+	Silent	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:17836661G>A	uc002nhe.1	+	5	477	c.468G>A	c.(466-468)ACG>ACA	p.T156T	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Silent_p.T156T|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Silent_p.T130T	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	156	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						TGGCCACCACGCCCCCACCTG	0.657000												
ISYNA1	51477	broad.mit.edu	37	19	18546941	18546941	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:18546941C>T	uc002njd.1	-	7	926	c.876G>A	c.(874-876)GCG>GCA	p.A292A	ISYNA1_uc002nja.1_Silent_p.A164A|ISYNA1_uc002njb.1_Silent_p.A210A|ISYNA1_uc002njc.1_Silent_p.A142A|ISYNA1_uc010xqh.1_Silent_p.A90A|ISYNA1_uc002nje.1_Silent_p.A238A|ISYNA1_uc002njf.1_Silent_p.A142A	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	292					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						GGTGCTGCCACGCGAGCTCAA	0.622000												
GSK3A	2931	broad.mit.edu	37	19	42736836	42736836	+	Splice_Site	SNP	T	T	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:42736836T>C	uc002otb.1	-	9	1218	c.1099_splice	c.e9-1	p.V367_splice	GSK3A_uc002ota.1_Splice_Site_p.V285_splice|GSK3A_uc002otc.2_Splice_Site	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha						insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)				TTTGAACACCTGAGGGATGGG	0.592000												
CEACAM8	1088	broad.mit.edu	37	19	43098028	43098028	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:43098028G>A	uc002oud.2	-	2	191	c.89C>T	c.(88-90)CCG>CTG	p.P30L	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	30					immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				AGTGGTGGGCGGGTTCCAGAA	0.507000												
KLK13	26085	broad.mit.edu	37	19	51559976	51559976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:51559976C>T	uc002pvn.2	-	5	745	c.702G>A	c.(700-702)TGG>TGA	p.W234*	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Nonsense_Mutation_p.W161*|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Nonsense_Mutation_p.W82*	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	234	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGAAGTCTCCCCAGGAGACGA	0.552000												
PSME4	23198	broad.mit.edu	37	2	54128631	54128631	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:54128631G>T	uc002rxp.2	-	28	3197	c.3141C>A	c.(3139-3141)GAC>GAA	p.D1047E	PSME4_uc010yop.1_Missense_Mutation_p.D933E|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.D422E|PSME4_uc010fbv.1_Missense_Mutation_p.D191E	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1047					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTACAATACAGTCCCAATCAT	0.433000												
GLI2	2736	broad.mit.edu	37	2	121747767	121747767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:121747767C>T	uc010flp.2	+	13	4307	c.4277C>T	c.(4276-4278)TCG>TTG	p.S1426L	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.S1098L|GLI2_uc002tmu.3_Missense_Mutation_p.S1081L	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1426					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				AACATGGGGTCGGTGCCTCCC	0.657000												
LRP1B	53353	broad.mit.edu	37	2	141660732	141660732	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:141660732C>G	uc002tvj.1	-	23	4495	c.3523G>C	c.(3523-3525)GAG>CAG	p.E1175Q	LRP1B_uc010fnl.1_Missense_Mutation_p.E357Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1175	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCGAACACTCATCTATAAAA	0.408000										TSP Lung(27;0.18)		
ARHGAP15	55843	broad.mit.edu	37	2	143974011	143974011	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:143974011T>A	uc002tvm.3	+	4	444	c.293T>A	c.(292-294)CTA>CAA	p.L98Q	ARHGAP15_uc010zbl.1_Missense_Mutation_p.L98Q	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	98	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		GGAAAGAAACTAAGGTAATAA	0.338000												
KIF5C	3800	broad.mit.edu	37	2	149818628	149818628	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:149818628G>A	uc010zbu.1	+	11	1480	c.1112G>A	c.(1111-1113)AGG>AAG	p.R371K	KIF5C_uc002tws.1_RNA	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	371	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		AACAGGTGGAGGAATGGTAAG	0.299000												
SCN7A	6332	broad.mit.edu	37	2	167284334	167284334	+	Silent	SNP	A	A	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:167284334A>G	uc002udu.1	-	17	2944	c.2817T>C	c.(2815-2817)TTT>TTC	p.F939F	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	939	Helical; Name=S1 of repeat III; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						CAAGCCCAATAAAACACTTAA	0.428000												
TTN	7273	broad.mit.edu	37	2	179604547	179604547	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:179604547C>T	uc010zfh.1	-	46	13124	c.12900G>A	c.(12898-12900)ATG>ATA	p.M4300I	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.M4233I|TTN_uc010zfj.1_Missense_Mutation_p.M4108I|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTAAGTTCCATTTTCAGGT	0.393000												
SPEG	10290	broad.mit.edu	37	2	220312960	220312960	+	Silent	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr2:220312960G>A	uc010fwg.2	+	4	1080	c.1080G>A	c.(1078-1080)TCG>TCA	p.S360S	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	360					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)		AGTCCAAGTCGTCCGGGCCCT	0.716000												
UBOX5	22888	broad.mit.edu	37	20	3102959	3102959	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr20:3102959A>T	uc002whw.2	-	3	496	c.326T>A	c.(325-327)GTC>GAC	p.V109D	uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.V109D|UBOX5_uc002why.1_Missense_Mutation_p.V109D	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	109						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						CTTGTCTGGGACAGATGGCTC	0.557000												
CST4	1472	broad.mit.edu	37	20	23669411	23669411	+	Missense_Mutation	SNP	G	G	A	rs150921984		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr20:23669411G>A	uc002wto.1	-	1	252	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_001899	NP_001890	P01036	CYTS_HUMAN	cystatin S precursor	66						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)	1	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TGCAGCGGGCGTCTGTAGTAC	0.602000												
PXMP4	11264	broad.mit.edu	37	20	32298497	32298497	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr20:32298497C>T	uc002wzv.2	-	3	362	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	PXMP4_uc002wzw.2_Intron|PXMP4_uc010zuh.1_Missense_Mutation_p.G87S	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	80						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						GAACACAAACCGTGCCAGGTT	0.587000												
MYH7B	57644	broad.mit.edu	37	20	33588873	33588873	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr20:33588873C>T	uc002xbi.1	+	39	5605	c.5513C>T	c.(5512-5514)ACG>ATG	p.T1838M		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1796	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGAGCAGACGGTGCGCGAG	0.647000												
BSN	8927	broad.mit.edu	37	3	49698362	49698362	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:49698362C>T	uc003cxe.3	+	6	9198	c.9084C>T	c.(9082-9084)CCC>CCT	p.P3028P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3028					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCACCACTCCCGCTGGCCAGT	0.662000												
ST3GAL6	10402	broad.mit.edu	37	3	98512522	98512522	+	Missense_Mutation	SNP	G	G	A	rs140152670		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:98512522G>A	uc003dsz.2	+	10	1149	c.913G>A	c.(913-915)GCG>ACG	p.A305T	ST3GAL6_uc003dsy.2_Missense_Mutation_p.A219T|ST3GAL6_uc003dta.2_Missense_Mutation_p.A187T|ST3GAL6_uc003dtb.2_Missense_Mutation_p.A161T|ST3GAL6_uc003dtc.2_Missense_Mutation_p.A305T|ST3GAL6_uc010hpd.2_Missense_Mutation_p.A358T	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	305	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						TCTTTAGAACGCGTATCACAA	0.348000												
IGSF11	152404	broad.mit.edu	37	3	118644976	118644976	+	Silent	SNP	G	G	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:118644976G>T	uc003ebw.2	-	4	799	c.552C>A	c.(550-552)ACC>ACA	p.T184T	IGSF11_uc011biv.1_Silent_p.T184T|IGSF11_uc003ebx.2_Silent_p.T184T|IGSF11_uc003eby.2_Silent_p.T183T|IGSF11_uc003ebz.2_Silent_p.T183T|IGSF11_uc010hqs.2_Silent_p.T183T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	184	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						GTAGTTTGAGGGTATTGTCTA	0.418000												
ZXDC	79364	broad.mit.edu	37	3	126194460	126194460	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:126194460G>C	uc003eiv.2	-	1	303	c.249C>G	c.(247-249)CAC>CAG	p.H83Q	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.H83Q	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	83					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		CAGCGCCGCCGTGCGGCACTT	0.458000												
DGKG	1608	broad.mit.edu	37	3	185986618	185986618	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr3:185986618G>A	uc003fqa.2	-	12	1625	c.1088C>T	c.(1087-1089)GCG>GTG	p.A363V	DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Missense_Mutation_p.A363V|DGKG_uc011brx.1_Intron	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	363	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCAGTGCCGCGCGGTGACACT	0.612000												
KIAA1530	57654	broad.mit.edu	37	4	1360175	1360175	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:1360175A>C	uc003gde.3	+	8	1691	c.1244A>C	c.(1243-1245)GAG>GCG	p.E415A	KIAA1530_uc010ibv.2_5'UTR	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	415											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CCTGAGAAGGAGGGGTATGAG	0.602000												
CHRNA9	55584	broad.mit.edu	37	4	40351080	40351080	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:40351080G>A	uc003gva.1	+	4	563	c.547G>A	c.(547-549)GTG>ATG	p.V183M		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	183	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	TGGCAATCAGGTGGACATATT	0.498000												
PTPN13	5783	broad.mit.edu	37	4	87724881	87724881	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:87724881C>T	uc003hpz.2	+	43	7005	c.6525C>T	c.(6523-6525)AAC>AAT	p.N2175N	PTPN13_uc003hpy.2_Silent_p.N2180N|PTPN13_uc003hqa.2_Silent_p.N2156N|PTPN13_uc003hqb.2_Silent_p.N1984N|PTPN13_uc003hqc.1_Silent_p.N541N	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2175						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCTGACAAACGATGAGCTCG	0.428000												
FAM13A	10144	broad.mit.edu	37	4	89702371	89702371	+	Missense_Mutation	SNP	C	C	T	rs116703634	by1000genomes	TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:89702371C>T	uc003hse.1	-	11	1611	c.1403G>A	c.(1402-1404)CGT>CAT	p.R468H	FAM13A_uc003hsb.1_Missense_Mutation_p.R142H|FAM13A_uc003hsd.1_Missense_Mutation_p.R142H|FAM13A_uc003hsc.1_Missense_Mutation_p.R128H|FAM13A_uc011cdq.1_Missense_Mutation_p.R114H|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.R282H|FAM13A_uc010ikr.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	468					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						GGATTTCTGACGTTTAGGCTT	0.378000												
TRIML1	339976	broad.mit.edu	37	4	189063413	189063413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr4:189063413C>T	uc003izm.1	+	3	627	c.512C>T	c.(511-513)ACA>ATA	p.T171I	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	171					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGGAAGAAACAAAGACTTGT	0.333000												
RAI14	26064	broad.mit.edu	37	5	34826448	34826448	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr5:34826448C>T	uc003jir.2	+	16	2859	c.2663C>T	c.(2662-2664)TCG>TTG	p.S888L	RAI14_uc010iur.2_Missense_Mutation_p.S859L|RAI14_uc011coj.1_Missense_Mutation_p.S888L|RAI14_uc003jis.2_Missense_Mutation_p.S891L|RAI14_uc003jit.2_Missense_Mutation_p.S888L|RAI14_uc011cok.1_Missense_Mutation_p.S880L	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	888	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					AATGAGATGTCGAAGGAAGTC	0.438000												
CMYA5	202333	broad.mit.edu	37	5	79026748	79026748	+	Silent	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr5:79026748G>A	uc003kgc.2	+	2	2232	c.2160G>A	c.(2158-2160)CCG>CCA	p.P720P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	720						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTAAGTCCCCGTTAATATTGA	0.458000												
COL23A1	91522	broad.mit.edu	37	5	177666176	177666176	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr5:177666176G>A	uc003mje.2	-	28	1944	c.1586C>T	c.(1585-1587)CCC>CTC	p.P529L	COL23A1_uc010jkt.2_Missense_Mutation_p.P411L	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	529	Extracellular (Potential).|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CAGCCCGTCGGGGCCCTGGAA	0.657000												
CFB	629	broad.mit.edu	37	6	31915251	31915251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr6:31915251C>T	uc003nyj.3	+	4	889	c.611C>T	c.(610-612)ACG>ATG	p.T204M	CFB_uc011dor.1_Missense_Mutation_p.T706M|CFB_uc003nyi.2_Missense_Mutation_p.T204M	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	204	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CAGCGGCGAACGTGTCAGGAA	0.622000												
BAI3	577	broad.mit.edu	37	6	70065746	70065746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr6:70065746C>T	uc003pev.3	+	28	4037	c.3589C>T	c.(3589-3591)CGA>TGA	p.R1197*	BAI3_uc010kak.2_Nonsense_Mutation_p.R1197*|BAI3_uc011dxx.1_Nonsense_Mutation_p.R403*	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1197	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CATTGCCTGTCGATCAGGTAA	0.294000												
RIMS1	22999	broad.mit.edu	37	6	72889429	72889429	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr6:72889429A>C	uc003pga.2	+	5	700	c.623A>C	c.(622-624)AAG>ACG	p.K208T	RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	208					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAAGAGAAAAGAAAGCACGA	0.577000												
HTR1B	3351	broad.mit.edu	37	6	78172243	78172243	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr6:78172243C>T	uc003pil.1	-	1	878	c.878G>A	c.(877-879)CGA>CAA	p.R293Q		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	293	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GTCGGAGACTCGCACTTTGAC	0.562000												
GPER	2852	broad.mit.edu	37	7	1131745	1131745	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:1131745C>T	uc010ksd.1	+	2	770	c.381C>T	c.(379-381)GCC>GCT	p.A127A	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.A127A|GPER_uc003ska.1_Silent_p.A127A|GPER_uc003skb.2_Silent_p.A127A	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	127	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		ACGACATCGCCGTCCTGTGCA	0.587000												
SUN3	256979	broad.mit.edu	37	7	48046774	48046774	+	Silent	SNP	C	C	T	rs150352113	by1000genomes	TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:48046774C>T	uc003tof.2	-	6	577	c.480G>A	c.(478-480)CCG>CCA	p.P160P	SUN3_uc010kyq.2_Silent_p.P60P|SUN3_uc003tog.2_Silent_p.P160P|SUN3_uc011kcf.1_Silent_p.P148P	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	160						integral to membrane		p.P160S(1)		central_nervous_system(1)	1						CTGTGTGGTCCGGGTCCTCCA	0.552000												
POM121	9883	broad.mit.edu	37	7	72412663	72412663	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:72412663A>G	uc003twk.2	+	11	2131	c.2131A>G	c.(2131-2133)ACC>GCC	p.T711A	POM121_uc003twj.2_Missense_Mutation_p.T446A|POM121_uc010lam.1_Missense_Mutation_p.T446A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	711	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				AACACAGAACACCTCACCTTC	0.607000												
DGKI	9162	broad.mit.edu	37	7	137531227	137531227	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:137531227G>A	uc003vtt.2	-	1	383	c.382C>T	c.(382-384)CGG>TGG	p.R128W	DGKI_uc003vtu.2_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	128					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ACCTGCTTCCGGAAAGTTAAG	0.592000												
HIPK2	28996	broad.mit.edu	37	7	139416436	139416436	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr7:139416436C>T	uc003vvf.3	-	2	572	c.398G>A	c.(397-399)CGT>CAT	p.R133H	HIPK2_uc003vvd.3_Missense_Mutation_p.R133H	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	133	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					CTCGCTCTTACGCTTGAGTCC	0.547000												
RP1L1	94137	broad.mit.edu	37	8	10469501	10469501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:10469501G>A	uc003wtc.2	-	4	2336	c.2107C>T	c.(2107-2109)CGA>TGA	p.R703*		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	703					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCAGAATATCGTGGCACTGAG	0.617000												
SNTG1	54212	broad.mit.edu	37	8	51465632	51465632	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:51465632G>T	uc010lxy.1	+	13	1074	c.703G>T	c.(703-705)GCT>TCT	p.A235S	SNTG1_uc003xqs.1_Missense_Mutation_p.A235S|SNTG1_uc010lxz.1_Missense_Mutation_p.A235S|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	235					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAAGTCATTGCTGTGGATGG	0.418000												
DNAJC5B	85479	broad.mit.edu	37	8	66989069	66989069	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:66989069C>T	uc003xvs.1	+	4	585	c.294C>T	c.(292-294)AAC>AAT	p.N98N	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	98					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAGACGAAAACGTTAACACCT	0.448000												
RALYL	138046	broad.mit.edu	37	8	85441713	85441713	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:85441713G>A	uc003ycq.3	+	3	573	c.157G>A	c.(157-159)GTT>ATT	p.V53I	RALYL_uc003ycr.3_Missense_Mutation_p.V53I|RALYL_uc003ycs.3_Missense_Mutation_p.V53I|RALYL_uc010lzy.2_Missense_Mutation_p.V53I|RALYL_uc003yct.3_Missense_Mutation_p.V66I	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	53	RRM.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						TGGATGTTCCGTTCACAAAGG	0.438000												
CSMD3	114788	broad.mit.edu	37	8	113694815	113694815	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:113694815G>A	uc003ynu.2	-	16	2692	c.2533C>T	c.(2533-2535)CGG>TGG	p.R845W	CSMD3_uc003yns.2_Missense_Mutation_p.R117W|CSMD3_uc003ynt.2_Missense_Mutation_p.R805W|CSMD3_uc011lhx.1_Missense_Mutation_p.R741W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	845	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCCCCAAACCGCCGTGCATTG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113702269	113702269	+	Silent	SNP	T	T	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:113702269T>C	uc003ynu.2	-	14	2142	c.1983A>G	c.(1981-1983)AAA>AAG	p.K661K	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Silent_p.K621K|CSMD3_uc011lhx.1_Silent_p.K557K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	661	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CACAACTTTCTTTCTCAATTT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
ADCY8	114	broad.mit.edu	37	8	132051788	132051788	+	Silent	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr8:132051788G>A	uc003ytd.3	-	1	1048	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	ADCY8_uc010mds.2_Silent_p.Y264Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	264	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCAGGAGCCCGTAGCCGAGGC	0.662000										HNSCC(32;0.087)		
FRMD3	257019	broad.mit.edu	37	9	86153105	86153105	+	Silent	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr9:86153105G>A	uc004ams.1	-	1	244	c.42C>T	c.(40-42)ACC>ACT	p.T14T	FRMD3_uc004amr.1_5'UTR	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	14						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						TCATTTTCATGGTCCTCCTGC	0.652000												
ZNF484	83744	broad.mit.edu	37	9	95609552	95609552	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr9:95609552G>C	uc004asu.1	-	5	1666	c.1517C>G	c.(1516-1518)ACT>AGT	p.T506S	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.T508S|ZNF484_uc010mrb.1_Missense_Mutation_p.T470S|ZNF484_uc004asv.1_Missense_Mutation_p.T470S	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	506	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGACCTGTCAGTAAAGGCCTT	0.403000												
C9orf125	84302	broad.mit.edu	37	9	104238826	104238826	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr9:104238826C>T	uc004bbm.2	-	2	871	c.549G>A	c.(547-549)TCG>TCA	p.S183S	uc004bbl.1_5'Flank	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	hypothetical protein LOC84302	183						integral to membrane					0		Acute lymphoblastic leukemia(62;0.0527)				CTTTCTCAAACGAGTTGGTCG	0.498000												
PAPPA	5069	broad.mit.edu	37	9	119033625	119033625	+	Silent	SNP	C	C	T			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr9:119033625C>T	uc004bjn.2	+	9	3264	c.2883C>T	c.(2881-2883)GAC>GAT	p.D961D	PAPPA_uc011lxp.1_Silent_p.D656D|PAPPA_uc011lxq.1_Silent_p.D336D	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	961					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AACAATGCGACGACATGAATA	0.393000												
SYN1	6853	broad.mit.edu	37	X	47435945	47435945	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chrX:47435945T>C	uc004die.2	-	7	1061	c.932A>G	c.(931-933)AAA>AGA	p.K311R	SYN1_uc004did.2_Missense_Mutation_p.K311R	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	311	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						CACGTCATATTTGGCATCGAT	0.552000												
LRCH2	57631	broad.mit.edu	37	X	114468294	114468294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chrX:114468294G>A	uc010nqe.2	-	1	342	c.311C>T	c.(310-312)CCG>CTG	p.P104L	LRCH2_uc004epz.2_Missense_Mutation_p.P104L	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	104	LRR 1.									ovary(1)	1						GCCGCTGCCCGGGAAGTCTCG	0.682000												
NF1	4763	broad.mit.edu	37	17	29508492	29508493	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:29508492_29508493delAA	uc002hgg.2	+	6	972_973	c.639_640delAA	c.(637-642)ATAAATfs	p.I213fs	NF1_uc002hge.1_Frame_Shift_Del_p.I213fs|NF1_uc002hgf.1_Frame_Shift_Del_p.I213fs|NF1_uc002hgh.2_Frame_Shift_Del_p.I213fs|NF1_uc010csn.1_Frame_Shift_Del_p.I73fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	213_214					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGCAGTTATAAATAGCCTGGA	0.297			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
EXOC8	149371	broad.mit.edu	37	1	231472437	231472438	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr1:231472436_231472437GTC>G	uc001huq.3	-	0	1142_1143	c.1055_1056GAC>C	c.(1054-1056)gacfs	p.D352fs		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	352					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CCCCTTCAAAGTCTCTCTGCGC	0.505												
SACS	26278	broad.mit.edu	37	13	23906689	23906704	+	Frame_Shift_Del	DEL	TGCTCCTTAAGACTTT	TGCTCCTTAAGACTTT	-	rs145188410		TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr13:23906688_23906703ATGCTCCTTAAGACTTT>A	uc001uon.2	-	9	11901_11916	c.11312_11327AAAGTCTTAAGGAGCAT>T	c.(11311-11328)aaagtcttaaggagcatafs	p.K3771fs	SACS_uc001uoo.2_Frame_Shift_Del_p.K3624fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3771					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.S3773T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATTCATATATGCTCCTTAAGACTTTTGCTCTAGT	0.389												
RNF43	54894	broad.mit.edu	37	17	56448298	56448299	+	Frame_Shift_Ins	INS	-	-	G	rs2257205	byFrequency	TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr17:56448297_56448298C>CG	uc002iwf.3	-	1	2305_2306	c.349_350G>CG	c.(349-351)cgcfs	p.R117fs	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Frame_Shift_Ins_p.R117fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.R117fs|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	117			R -> H (in dbSNP:rs2257205).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGCAGGGGCGGGGGGCCCGT	0.604												
LONP1	9361	broad.mit.edu	37	19	5692169	5692171	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-A44U-01A-11D-A24D-08	TCGA-BR-A44U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65ea2772-2b1c-4f32-9d08-de3133164565	bbdeaf3b-83c8-4f4e-a85e-d412a39556da	g.chr19:5692168_5692170CCTT>C	uc002mcx.3	-	17	2786_2788	c.2753_2755AAGG>G	c.(2752-2757)aaggac>aGac	p.918_919KD>R	LONP1_uc002mcy.3_In_Frame_Del_p.854_855KD>R|LONP1_uc010duh.3_In_Frame_Del_p.659_660KD>R|LONP1_uc010dui.3_In_Frame_Del_p.902_903KD>R|LONP1_uc002mcz.3_In_Frame_Del_p.722_723KD>R	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	918					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.D919V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGTAGAAGTCCTTCTTGTTCTC	0.650												
