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
EIF4G3	8672	broad.mit.edu	37	1	21143964	21143964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:21143964G>A	uc001bec.2	-	29	4524	c.4268C>T	c.(4267-4269)GCC>GTC	p.A1423V	EIF4G3_uc010odi.1_Missense_Mutation_p.A1027V|EIF4G3_uc010odj.1_Missense_Mutation_p.A1422V|EIF4G3_uc009vpz.2_Missense_Mutation_p.A1143V|EIF4G3_uc001bed.2_Missense_Mutation_p.A1423V|EIF4G3_uc001bef.2_Missense_Mutation_p.A1459V|EIF4G3_uc001bee.2_Missense_Mutation_p.A1429V	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1423	W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGCTCTTCGGCAGACAGTTC	0.393000												
EPHA8	2046	broad.mit.edu	37	1	22913108	22913108	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:22913108C>T	uc001bfx.1	+	4	1084	c.959C>T	c.(958-960)CCG>CTG	p.P320L	EPHA8_uc001bfw.2_Missense_Mutation_p.P320L	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	320	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCCTGGACCCGCCGTCCTCA	0.672000												
S100PBP	64766	broad.mit.edu	37	1	33321539	33321539	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:33321539G>A	uc001bvz.2	+	7	1404	c.1127G>A	c.(1126-1128)CGA>CAA	p.R376Q	S100PBP_uc001bwc.2_Missense_Mutation_p.R376Q|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	376						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TACGCCCGCCGACAGAAACAT	0.463000												
NCDN	23154	broad.mit.edu	37	1	36028833	36028833	+	Silent	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:36028833C>T	uc001bza.2	+	6	1543	c.1416C>T	c.(1414-1416)ACC>ACT	p.T472T	NCDN_uc001bzb.2_Silent_p.T472T|NCDN_uc001bzc.2_Silent_p.T455T	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	472					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCACCTGACCGTTGAAGATG	0.587000												
CLDN19	149461	broad.mit.edu	37	1	43205530	43205530	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:43205530A>C	uc001cht.1	-	1	396	c.205T>G	c.(205-207)TCG>GCG	p.S69A	CLDN19_uc001chu.2_Missense_Mutation_p.S69A|CLDN19_uc010ojv.1_Missense_Mutation_p.S69A	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	69	Extracellular (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGAGCAGCGAGTCGTAGAGC	0.642000												
LRP8	7804	broad.mit.edu	37	1	53712697	53712697	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:53712697A>G	uc001cvi.1	-	19	3027	c.2885T>C	c.(2884-2886)CTA>CCA	p.L962P	LRP8_uc001cvh.1_Missense_Mutation_p.L456P|LRP8_uc001cvk.1_Missense_Mutation_p.L792P|LRP8_uc001cvj.1_Missense_Mutation_p.L903P|LRP8_uc001cvl.1_Missense_Mutation_p.L699P	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	962	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						TCCTCAGGGTAGTCCATCATC	0.333000												
CA14	23632	broad.mit.edu	37	1	150233945	150233945	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:150233945T>G	uc001etx.2	+	3	473	c.164T>G	c.(163-165)GTG>GGG	p.V55G		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	55	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAGACAGTGTGACATTTGAC	0.557000												
TMOD4	29765	broad.mit.edu	37	1	151143000	151143000	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:151143000T>G	uc001exc.3	-	9	1200	c.1010A>C	c.(1009-1011)GAA>GCA	p.E337A	TMOD4_uc001exb.2_Missense_Mutation_p.E165A|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.E268A	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	337					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCACGTAGTTCATTGTTTCG	0.542000												
RPTN	126638	broad.mit.edu	37	1	152129286	152129286	+	Silent	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:152129286T>G	uc001ezs.1	-	3	354	c.289A>C	c.(289-291)AGG>CGG	p.R97R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	97						proteinaceous extracellular matrix	calcium ion binding				0						TGTGAGGTCCTGCCTCCATGT	0.488000												
HRNR	388697	broad.mit.edu	37	1	152195644	152195644	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:152195644T>C	uc001ezt.1	-	2	162	c.86A>G	c.(85-87)AAC>AGC	p.N29S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	29	1 (Potential).|EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCCTTGTTCAACGTATC	0.408000												
LCE1B	353132	broad.mit.edu	37	1	152785235	152785235	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:152785235T>A	uc001faq.2	+	1	789	c.313T>A	c.(313-315)TGC>AGC	p.C105S		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	105	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCTCCAGCTGCTGTGGAGG	0.627000												
AQP10	89872	broad.mit.edu	37	1	154295731	154295731	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:154295731T>C	uc001feu.2	+	4	425	c.385T>C	c.(385-387)TAT>CAT	p.Y129H	AQP10_uc001fev.2_Missense_Mutation_p.Y129H|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	129	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTACAGAACTATACAGGTGG	0.547000												
THBS3	7059	broad.mit.edu	37	1	155170258	155170258	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:155170258G>A	uc001fix.2	-	14	1715	c.1692C>T	c.(1690-1692)AAC>AAT	p.N564N	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.N555N|THBS3_uc001fiz.2_Silent_p.N527N|THBS3_uc001fiy.2_Silent_p.N93N|THBS3_uc010pfu.1_Silent_p.N444N|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	564	TSP type-3 4.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATCCACGTCGTTGTCACAGG	0.547000												
IFI16	3428	broad.mit.edu	37	1	158986333	158986333	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:158986333A>C	uc001ftf.1	+	5	999	c.392A>C	c.(391-393)AAA>ACA	p.K131T	IFI16_uc001ftg.2_Missense_Mutation_p.K131T|IFI16_uc010pis.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	131	Lys-rich.|Nuclear localization signal (Potential).				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					AAAAGAAAAAAATCAACCAAA	0.438000												
OR10J3	441911	broad.mit.edu	37	1	159284068	159284068	+	Missense_Mutation	SNP	A	A	G	rs141882038		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:159284068A>G	uc010piu.1	-	1	382	c.382T>C	c.(382-384)TGC>CGC	p.C128R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					AGGGGGTTGCAGATGGCCACA	0.522000												
ATP1B1	481	broad.mit.edu	37	1	169100726	169100726	+	RNA	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:169100726A>C	uc001gfs.1	+	6		c.970A>C						P05026	AT1B1_HUMAN	Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system.						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	all_hematologic(923;0.208)					TACGGTGAGAACATTGGGTAC	0.458000												
PAPPA2	60676	broad.mit.edu	37	1	176668266	176668266	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:176668266C>G	uc001gkz.2	+	8	3941	c.2777C>G	c.(2776-2778)CCA>CGA	p.P926R	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	926					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						CCCTGCGAGCCAAGCTTACAG	0.547000												
HMCN1	83872	broad.mit.edu	37	1	185966642	185966642	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:185966642C>A	uc001grq.1	+	25	4089	c.3860C>A	c.(3859-3861)CCA>CAA	p.P1287Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1287	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATTGAATTTCCATGTCCTGCA	0.323000												
PIK3C2B	5287	broad.mit.edu	37	1	204438205	204438205	+	Silent	SNP	C	C	T	rs146926130	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:204438205C>T	uc001haw.2	-	3	1205	c.726G>A	c.(724-726)TCG>TCA	p.S242S	PIK3C2B_uc010pqv.1_Silent_p.S242S|PIK3C2B_uc001hax.1_Silent_p.S242S|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	242	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CATCATAGGTCGATTTCAAGT	0.572000												
RYR2	6262	broad.mit.edu	37	1	237580424	237580424	+	Splice_Site	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr1:237580424G>A	uc001hyl.1	+	11	968	c.848_splice	c.e11+1	p.A283_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGAGTTGCGTAAGTAGAAC	0.448000												
USP6NL	9712	broad.mit.edu	37	10	11505655	11505655	+	Silent	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:11505655C>T	uc001ikt.3	-	15	1593	c.1272G>A	c.(1270-1272)ACG>ACA	p.T424T	USP6NL_uc001iks.1_Silent_p.T441T	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	424						intracellular	Rab GTPase activator activity				0						CTCTCTCGGGCGTCCCGGTCC	0.657000												
CUBN	8029	broad.mit.edu	37	10	16970303	16970303	+	Splice_Site	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:16970303C>A	uc001ioo.2	-	41	6177	c.6125_splice	c.e41-1	p.G2042_splice		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTATTATCTCCTACGTTGAAA	0.458000												
ARMC4	55130	broad.mit.edu	37	10	28233225	28233225	+	Missense_Mutation	SNP	C	C	T	rs145742175		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:28233225C>T	uc009xky.2	-	12	1767	c.1669G>A	c.(1669-1671)GAG>AAG	p.E557K	ARMC4_uc010qds.1_Missense_Mutation_p.E82K|ARMC4_uc010qdt.1_Missense_Mutation_p.E249K|ARMC4_uc001itz.2_Missense_Mutation_p.E557K|ARMC4_uc010qdu.1_Missense_Mutation_p.E249K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	557	ARM 2.						binding			ovary(4)|skin(2)	6						GCGATAGTCTCGGCTGCCAAA	0.463000												
ANKRD30A	91074	broad.mit.edu	37	10	37508309	37508309	+	Silent	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:37508309C>T	uc001iza.1	+	34	3600	c.3501C>T	c.(3499-3501)TTC>TTT	p.F1167F		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1223						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AACCTGCTTTCCACATTGCAG	0.398000												
ANKRD30A	91074	broad.mit.edu	37	10	37508493	37508493	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:37508493C>A	uc001iza.1	+	34	3784	c.3685C>A	c.(3685-3687)CAA>AAA	p.Q1229K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1285	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AGAACATGCACAAAGAGACCA	0.378000												
A1CF	29974	broad.mit.edu	37	10	52588038	52588038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:52588038C>A	uc001jjj.2	-	7	810	c.622G>T	c.(622-624)GGA>TGA	p.G208*	A1CF_uc010qhn.1_Nonsense_Mutation_p.G216*|A1CF_uc001jji.2_Nonsense_Mutation_p.G208*|A1CF_uc001jjh.2_Nonsense_Mutation_p.G216*|A1CF_uc010qho.1_Nonsense_Mutation_p.G216*|A1CF_uc009xov.2_Nonsense_Mutation_p.G208*	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	208	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						ATACCATGTCCCCATAACTGA	0.348000												
CDH23	64072	broad.mit.edu	37	10	73461941	73461941	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:73461941C>A	uc001jrx.3	+	22	2937	c.2560C>A	c.(2560-2562)CGC>AGC	p.R854S	CDH23_uc001jry.2_Missense_Mutation_p.R470S|CDH23_uc001jrz.2_Missense_Mutation_p.R470S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	854	Cadherin 8.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CGAGCTGATGCGCAAAATCGT	0.632000												
P4HA1	5033	broad.mit.edu	37	10	74804758	74804758	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:74804758G>T	uc010qka.1	-	10	1463	c.1129C>A	c.(1129-1131)CAT>AAT	p.H377N	P4HA1_uc001jtg.2_Missense_Mutation_p.H377N|P4HA1_uc001jth.2_Intron|P4HA1_uc010qkb.1_Intron|P4HA1_uc001jti.2_Intron	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	377						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATTCTGTAATGTACCGTCTCC	0.368000												
NRG3	10718	broad.mit.edu	37	10	83635467	83635467	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:83635467C>T	uc001kco.2	+	1	398	c.371C>T	c.(370-372)GCC>GTC	p.A124V	NRG3_uc010qlz.1_Missense_Mutation_p.A124V|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	124	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTCCCCAAGGCCATGGAGacc	0.498000												
NRG3	10718	broad.mit.edu	37	10	84718767	84718767	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:84718767T>C	uc001kco.2	+	6	1247	c.1220T>C	c.(1219-1221)CTC>CCC	p.L407P	NRG3_uc010qlz.1_Missense_Mutation_p.L406P|NRG3_uc001kcp.2_Missense_Mutation_p.L186P|NRG3_uc001kcq.2_Missense_Mutation_p.L57P|NRG3_uc001kcr.2_Missense_Mutation_p.L57P	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	407	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCTACAGTCTCAAAGCATCC	0.423000												
COX15	1355	broad.mit.edu	37	10	101476185	101476185	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:101476185A>G	uc001kqb.3	-	8	1638	c.1021T>C	c.(1021-1023)TAC>CAC	p.Y341H	COX15_uc001kqc.3_Missense_Mutation_p.Y341H|COX15_uc010qpj.1_Missense_Mutation_p.Y162H	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	341	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GAGAGGAAGTAGAGCACTGTA	0.453000												
SORCS1	114815	broad.mit.edu	37	10	108434807	108434807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:108434807G>A	uc001kym.2	-	14	1948	c.1940C>T	c.(1939-1941)ACA>ATA	p.T647I	SORCS1_uc001kyl.2_Missense_Mutation_p.T647I|SORCS1_uc009xxs.2_Missense_Mutation_p.T647I|SORCS1_uc001kyn.1_Missense_Mutation_p.T647I|SORCS1_uc001kyo.2_Missense_Mutation_p.T647I	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	647	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAACTTACGTCATGATGAG	0.403000												
SHOC2	8036	broad.mit.edu	37	10	112769019	112769019	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:112769019C>G	uc001kzl.3	+	7	1647	c.1298C>G	c.(1297-1299)TCA>TGA	p.S433*	SHOC2_uc009xxx.2_Nonsense_Mutation_p.S433*|SHOC2_uc010qrg.1_Nonsense_Mutation_p.S72*|SHOC2_uc001kzn.2_Nonsense_Mutation_p.S387*	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	433	LRR 15.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTTATCTTATCAAACAATCTT	0.318000												
UBQLNL	143630	broad.mit.edu	37	11	5536964	5536964	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:5536964T>G	uc001maz.3	-	1	993	c.708A>C	c.(706-708)CAA>CAC	p.Q236H	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	236										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCATTATCTCTTGGATCATAG	0.468000												
OR52L1	338751	broad.mit.edu	37	11	6008074	6008074	+	Silent	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:6008074A>G	uc001mcd.2	-	1	142	c.87T>C	c.(85-87)TCT>TCC	p.S29S		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	29	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGAGAAAAGAAGGCTGGG	0.468000												
MICALCL	84953	broad.mit.edu	37	11	12316167	12316167	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:12316167T>A	uc001mkg.1	+	3	1480	c.1189T>A	c.(1189-1191)TTT>ATT	p.F397I		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	397					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		AATCTCACTTTTTTCCTCCCT	0.453000												
OR4C46	119749	broad.mit.edu	37	11	51515532	51515532	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:51515532T>C	uc010ric.1	+	1	251	c.251T>C	c.(250-252)CTC>CCC	p.L84P		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACACATTCACTCTATGGAAAG	0.483000												
OR4C15	81309	broad.mit.edu	37	11	55322128	55322128	+	Silent	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:55322128T>C	uc010rig.1	+	1	346	c.346T>C	c.(346-348)TTG>CTG	p.L116L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTACTTCTTCTTGGGCTTCCT	0.448000										HNSCC(20;0.049)		
OR5D14	219436	broad.mit.edu	37	11	55563500	55563500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:55563500G>A	uc010rim.1	+	1	469	c.469G>A	c.(469-471)GGC>AGC	p.G157S		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				GGGCATGTTTGGCCCCTTGGT	0.498000												
OR5T2	219464	broad.mit.edu	37	11	55999981	55999981	+	Silent	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:55999981A>G	uc010rjc.1	-	1	681	c.681T>C	c.(679-681)TCT>TCC	p.S227S		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	227	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGTCAGAATAAGAAATAGCAA	0.423000												
GLYATL2	219970	broad.mit.edu	37	11	58602155	58602155	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:58602155A>C	uc001nnd.3	-	6	763	c.632T>G	c.(631-633)CTT>CGT	p.L211R	GLYATL2_uc009ymq.2_Missense_Mutation_p.L211R	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	211						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CCAAGAGACAAGCTGGCCCTC	0.458000												
ODZ4	26011	broad.mit.edu	37	11	78381433	78381433	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:78381433G>A	uc001ozl.3	-	32	6420	c.5957C>T	c.(5956-5958)GCC>GTC	p.A1986V	ODZ4_uc001ozk.3_Missense_Mutation_p.A211V|ODZ4_uc009yvb.1_Missense_Mutation_p.A570V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1986	Extracellular (Potential).|YD 8.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TATGACTGAGGCATTGCCCTC	0.547000												
FOLH1B	219595	broad.mit.edu	37	11	89429883	89429883	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:89429883C>A	uc001pda.2	+	13	1655	c.1129C>A	c.(1129-1131)CCT>ACT	p.P377T		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	377					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						ACCAGACAGACCTTTTTATAG	0.299000												
MTMR2	8898	broad.mit.edu	37	11	95574830	95574830	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr11:95574830G>A	uc001pfu.2	-	12	1683	c.1430C>T	c.(1429-1431)TCG>TTG	p.S477L	MTMR2_uc001pfv.2_Missense_Mutation_p.S405L|MTMR2_uc001pfs.2_Missense_Mutation_p.S405L|MTMR2_uc001pft.2_Missense_Mutation_p.S405L	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	477	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAACAGGCGATCTGTCTGC	0.388000												
KRT74	121391	broad.mit.edu	37	12	52964498	52964498	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:52964498G>A	uc001sap.1	-	5	1011	c.963C>T	c.(961-963)ATC>ATT	p.I321I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	321	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		TCTTCAGGGCGATCTCCTCAT	0.607000												
EPYC	1833	broad.mit.edu	37	12	91371910	91371910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:91371910G>A	uc001tbk.2	-	3	388	c.295C>T	c.(295-297)CAG>TAG	p.Q99*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	99					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						TCAGGCTCCTGGGGAGAAGAG	0.522000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
POLR3B	55703	broad.mit.edu	37	12	106895167	106895167	+	Silent	SNP	A	A	T	rs144051136		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:106895167A>T	uc001tlp.2	+	26	3273	c.3051A>T	c.(3049-3051)CTA>CTT	p.L1017L	POLR3B_uc001tlq.2_Silent_p.L959L	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	1017					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						ACATGGTGCTAGATAAAATGC	0.448000												
ZCCHC8	55596	broad.mit.edu	37	12	122958719	122958719	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:122958719G>A	uc001ucn.2	-	14	1580	c.1449C>T	c.(1447-1449)GTC>GTT	p.V483V	ZCCHC8_uc001ucl.2_Silent_p.V94V|ZCCHC8_uc001ucm.2_Silent_p.V245V|ZCCHC8_uc009zxp.2_Silent_p.V245V|ZCCHC8_uc009zxq.2_Silent_p.V245V	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	483	Pro-rich.					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGGGGTGAAGACGGGTGGAG	0.587000												
TMEM132D	121256	broad.mit.edu	37	12	129569124	129569124	+	Missense_Mutation	SNP	G	G	A	rs144267550		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:129569124G>A	uc009zyl.1	-	6	1895	c.1567C>T	c.(1567-1569)CGG>TGG	p.R523W	TMEM132D_uc001uia.2_Missense_Mutation_p.R61W	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	523	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGCGGAAGCCGGGGCACCCAC	0.567000												
FRY	10129	broad.mit.edu	37	13	32798522	32798522	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr13:32798522G>T	uc001utx.2	+	37	5412	c.4916G>T	c.(4915-4917)AGG>ATG	p.R1639M	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACTCCACAGGTGAGCAGCA	0.537000												
TNFSF11	8600	broad.mit.edu	37	13	43148629	43148629	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr13:43148629G>A	uc001uyu.2	+	1	339	c.190G>A	c.(190-192)GTC>ATC	p.V64I	TNFSF11_uc001uyt.2_Intron	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	64	Helical; Signal-anchor for type II membrane protein; (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TGTCTGCAGCGTCGCCCTGTT	0.697000												
UTP14C	9724	broad.mit.edu	37	13	52603712	52603712	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr13:52603712G>C	uc001vgb.2	+	2	1307	c.772G>C	c.(772-774)GGA>CGA	p.G258R	UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	258					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CGTGAAGAAAGGAAAGGCCAA	0.418000												
OR4K5	79317	broad.mit.edu	37	14	20388855	20388855	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:20388855C>A	uc010tkw.1	+	1	90	c.90C>A	c.(88-90)TTC>TTA	p.F30L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTTTGTTTCTTCTCTGTGT	0.413000												
OR4K15	81127	broad.mit.edu	37	14	20444306	20444306	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:20444306A>C	uc010tkx.1	+	1	629	c.629A>C	c.(628-630)AAG>ACG	p.K210T		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	210	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTAGTGACCAAGTTAGCCTGC	0.418000												
TOX4	9878	broad.mit.edu	37	14	21955783	21955783	+	Silent	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:21955783C>T	uc001waz.2	+	3	352	c.249C>T	c.(247-249)GAC>GAT	p.D83D	TOX4_uc001way.2_5'UTR|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.D60D|TOX4_uc010tlv.1_Intron	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	83						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGACATTGGACATGCCTGTGG	0.577000												
PRKD1	5587	broad.mit.edu	37	14	30093429	30093429	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:30093429T>A	uc001wqh.2	-	13	2015	c.1834A>T	c.(1834-1836)AAA>TAA	p.K612*		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	612	Protein kinase.	ATP.		K->W: Loss of kinase activity.	cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAATGATTTTAATAGCTACA	0.318000												
KIAA0586	9786	broad.mit.edu	37	14	58955445	58955445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:58955445G>A	uc001xdv.3	+	23	3679	c.3406G>A	c.(3406-3408)GCC>ACC	p.A1136T	KIAA0586_uc010trr.1_Missense_Mutation_p.A1253T|KIAA0586_uc001xdt.3_Missense_Mutation_p.A1168T|KIAA0586_uc001xdu.3_Missense_Mutation_p.A1197T|KIAA0586_uc010trs.1_Missense_Mutation_p.A1127T|KIAA0586_uc010trt.1_Missense_Mutation_p.A1072T	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1136										ovary(1)	1						CGGCACCAAGGCCCCTTCCCC	0.502000												
SIX4	51804	broad.mit.edu	37	14	61190154	61190154	+	Silent	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:61190154T>C	uc001xfc.2	-	1	639	c.639A>G	c.(637-639)AAA>AAG	p.K213K	SIX4_uc010app.1_Silent_p.K205K	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	213						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GCAGGGGGAATTTCCTGCGCA	0.647000												
SYNE2	23224	broad.mit.edu	37	14	64596767	64596767	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:64596767A>G	uc001xgm.2	+	76	14371	c.14141A>G	c.(14140-14142)GAT>GGT	p.D4714G	SYNE2_uc001xgl.2_Missense_Mutation_p.D4714G|SYNE2_uc010apy.2_Missense_Mutation_p.D1099G|SYNE2_uc010apz.1_Missense_Mutation_p.D606G	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4714	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTTTTCAGGATGTACTTGAC	0.473000												
ADAM21	8747	broad.mit.edu	37	14	70925003	70925003	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:70925003C>A	uc001xmd.2	+	1	787	c.787C>A	c.(787-789)CAA>AAA	p.Q263K		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	263	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATTTGGAATCAAGGAAATGT	0.373000												
KIAA1409	57578	broad.mit.edu	37	14	94044270	94044270	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:94044270G>A	uc001ybv.1	+	15	1846	c.1763G>A	c.(1762-1764)CGG>CAG	p.R588Q	KIAA1409_uc001ybs.1_Missense_Mutation_p.R588Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	765						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AGTCCGTTTCGGAGTCCTTTG	0.448000												
AHNAK2	113146	broad.mit.edu	37	14	105414728	105414728	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr14:105414728G>T	uc010axc.1	-	7	7180	c.7060C>A	c.(7060-7062)CTC>ATC	p.L2354I	AHNAK2_uc001ypx.2_Missense_Mutation_p.L2254I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2354						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGGAGGGGAGGCTCACGTCG	0.617000												
SLC12A1	6557	broad.mit.edu	37	15	48559802	48559802	+	Silent	SNP	G	G	A	rs150609105	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:48559802G>A	uc001zwn.3	+	18	2415	c.2199G>A	c.(2197-2199)GCG>GCA	p.A733A	SLC12A1_uc010uew.1_Silent_p.A539A|SLC12A1_uc010bem.2_Silent_p.A733A|SLC12A1_uc001zwq.3_Silent_p.A504A|SLC12A1_uc001zwr.3_Silent_p.A460A	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	733					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGGCATGGCGAAAAAACAGG	0.443000												
FBN1	2200	broad.mit.edu	37	15	48797233	48797233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:48797233C>T	uc001zwx.1	-	16	2277	c.1949G>A	c.(1948-1950)CGT>CAT	p.R650H		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	650	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AACACACACACGGCCATCCAG	0.498000												
SECISBP2L	9728	broad.mit.edu	37	15	49308888	49308888	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:49308888G>A	uc001zxe.1	-	11	1564	c.1430C>T	c.(1429-1431)TCA>TTA	p.S477L	SECISBP2L_uc001zxd.1_Missense_Mutation_p.S432L|SECISBP2L_uc010bep.1_Missense_Mutation_p.S239L	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	477										breast(1)|skin(1)	2						AGCTGCTTTTGATAAAGCTTC	0.333000												
MYO5A	4644	broad.mit.edu	37	15	52613705	52613705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:52613705C>T	uc002aby.2	-	37	4971	c.4727G>A	c.(4726-4728)GGC>GAC	p.G1576D	MYO5A_uc002abx.3_Missense_Mutation_p.G1549D|MYO5A_uc010ugd.1_Missense_Mutation_p.G298D	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1576	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTCATAAAGCCCTAGAGTCA	0.433000												
DPP8	54878	broad.mit.edu	37	15	65739344	65739344	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:65739344T>A	uc002aov.2	-	20	4153	c.2575A>T	c.(2575-2577)ATC>TTC	p.I859F	DPP8_uc002aow.2_Missense_Mutation_p.I859F|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.I843F|DPP8_uc002aoy.2_Missense_Mutation_p.I808F|DPP8_uc002aoz.2_Missense_Mutation_p.I743F|DPP8_uc010bhj.2_Missense_Mutation_p.I859F|DPP8_uc002apa.2_Intron|DPP8_uc010bhi.2_Missense_Mutation_p.I162F	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	859					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						TGAGGATAGATCTTACCAACA	0.328000												
NTRK3	4916	broad.mit.edu	37	15	88680715	88680715	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:88680715T>C	uc002bme.1	-	6	704	c.542A>G	c.(541-543)AAG>AGG	p.K181R	NTRK3_uc002bmh.2_Missense_Mutation_p.K181R|NTRK3_uc002bmf.1_Missense_Mutation_p.K181R|NTRK3_uc010upl.1_Missense_Mutation_p.K83R|NTRK3_uc010bnh.1_Missense_Mutation_p.K181R|NTRK3_uc002bmg.2_Missense_Mutation_p.K181R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	181	Extracellular (Potential).|LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGTTGAGCTTGGCCTCCCC	0.572000			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)		
LRRK1	79705	broad.mit.edu	37	15	101528929	101528929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr15:101528929C>T	uc002bwr.2	+	5	843	c.524C>T	c.(523-525)ACG>ATG	p.T175M	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.T175M	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	175	ANK 3.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T148M(1)		ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCCTGACGCACGGGGCT	0.632000												
SETD1A	9739	broad.mit.edu	37	16	30982811	30982811	+	Silent	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:30982811C>A	uc002ead.1	+	13	3815	c.3129C>A	c.(3127-3129)TCC>TCA	p.S1043S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1043	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						Gctcctcatcctcctcctcct	0.383000												
ZNF646	9726	broad.mit.edu	37	16	31089848	31089848	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:31089848G>A	uc002eap.2	+	2	2492	c.2203G>A	c.(2203-2205)GAA>AAA	p.E735K		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GGCTGAATCTGAAGGGGACAA	0.542000												
CNOT1	23019	broad.mit.edu	37	16	58633182	58633182	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:58633182T>G	uc002env.2	-	2	353	c.60A>C	c.(58-60)TTA>TTC	p.L20F	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.L20F|CNOT1_uc002enx.2_Missense_Mutation_p.L20F|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	20					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTTCTTGGTTAAATTGTCCA	0.493000												
RLTPR	146206	broad.mit.edu	37	16	67688536	67688536	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:67688536T>A	uc002etn.2	+	31	3643	c.3523T>A	c.(3523-3525)TAC>AAC	p.Y1175N	RLTPR_uc010vjr.1_Missense_Mutation_p.Y1139N	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	1175										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TAGCAAGGCCTACTCGATGAT	0.647000												
ANKRD11	29123	broad.mit.edu	37	16	89351933	89351933	+	Silent	SNP	G	G	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr16:89351933G>C	uc002fmx.1	-	9	1478	c.1017C>G	c.(1015-1017)GCC>GCG	p.A339A	ANKRD11_uc002fmy.1_Silent_p.A339A|ANKRD11_uc002fnc.1_Silent_p.A339A|ANKRD11_uc002fnb.1_Silent_p.A296A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	339						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGGGCCGTGGCCTTCTGTG	0.552000												
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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)		
RPL23A	6147	broad.mit.edu	37	17	27047880	27047880	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:27047880C>G	uc002hci.2	+	2	205	c.181C>G	c.(181-183)CCT>GCT	p.P61A	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc002hcf.2_5'Flank|RAB34_uc010was.1_5'Flank|RAB34_uc010wat.1_5'Flank|RAB34_uc002hch.2_5'Flank|RAB34_uc010wau.1_5'Flank|RAB34_uc010wav.1_5'Flank|RPL23A_uc002hck.1_RNA|SNORD4A_uc002hcl.2_5'Flank|SNORD42A_uc002hcm.1_5'Flank|SNORD4B_uc002hcn.1_5'Flank	NM_000984	NP_000975	P62750	RL23A_HUMAN	ribosomal protein L23a	61					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome			ovary(1)	1	Lung NSC(42;0.00431)					GCCCAAATATCCTCGGAAGAG	0.512000											OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C17orf37	84299	broad.mit.edu	37	17	37886535	37886535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:37886535G>T	uc002hsq.2	-	2	139	c.99C>A	c.(97-99)TGC>TGA	p.C33*		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	hypothetical protein LOC84299	33					cell redox homeostasis	cytosol|membrane	selenium binding				0	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTCGAAGCCGCAGGGTTCAC	0.697000											OREG0024383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UNK	85451	broad.mit.edu	37	17	73820418	73820418	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:73820418G>A	uc002jpm.2	+	17	2581	c.2581G>A	c.(2581-2583)GCT>ACT	p.A861T		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	785	RING-type; degenerate.						nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGCCAACACGCTGCGCTGTG	0.657000												
CDK3	1018	broad.mit.edu	37	17	73997514	73997514	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:73997514T>C	uc010dgt.2	+	2	84	c.8T>C	c.(7-9)ATG>ACG	p.M3T	CDK3_uc002jqg.3_Missense_Mutation_p.M31T	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	3					cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						GCCATGGATATGTTCCAGAAG	0.577000												
SEC14L1	6397	broad.mit.edu	37	17	75196731	75196731	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:75196731G>T	uc002jto.2	+	9	1252	c.985G>T	c.(985-987)GGA>TGA	p.G329*	SEC14L1_uc010dhc.2_Nonsense_Mutation_p.G329*|SEC14L1_uc010wth.1_Nonsense_Mutation_p.G329*|SEC14L1_uc002jtm.2_Nonsense_Mutation_p.G329*|SEC14L1_uc010wti.1_Nonsense_Mutation_p.G295*	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	329	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						TTACTACGCGGGAGGCTGGCA	0.488000												
SEC14L1	6397	broad.mit.edu	37	17	75208180	75208180	+	Missense_Mutation	SNP	C	C	T	rs143885262	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr17:75208180C>T	uc002jto.2	+	15	2027	c.1760C>T	c.(1759-1761)CCG>CTG	p.P587L	SEC14L1_uc010dhc.2_Missense_Mutation_p.P587L|SEC14L1_uc010wth.1_Missense_Mutation_p.P587L|SEC14L1_uc002jtm.2_Missense_Mutation_p.P587L|SEC14L1_uc010wti.1_Missense_Mutation_p.P553L|SEC14L1_uc010wtj.1_Intron|SEC14L1_uc002jtr.2_5'UTR	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	587	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						ATCACCTCTCCGGGTGGGAAC	0.547000												
EPB41L3	23136	broad.mit.edu	37	18	5398038	5398038	+	Silent	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr18:5398038A>C	uc002kmt.1	-	17	2540	c.2454T>G	c.(2452-2454)ACT>ACG	p.T818T	EPB41L3_uc010wzh.1_Silent_p.T649T|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Silent_p.T123T|EPB41L3_uc010wzf.1_Silent_p.T115T|EPB41L3_uc010wzg.1_Silent_p.T90T|EPB41L3_uc010dkr.2_Silent_p.T210T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	818	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						AGCTTTGAGAAGTAGAAGTAA	0.463000												
MYO5B	4645	broad.mit.edu	37	18	47402144	47402144	+	Silent	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr18:47402144C>T	uc002leb.2	-	26	3738	c.3450G>A	c.(3448-3450)CAG>CAA	p.Q1150Q	MYO5B_uc002lea.2_Silent_p.Q291Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1150	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		GTACTCTCTTCTGCAGCTTCA	0.507000												
DENND1C	79958	broad.mit.edu	37	19	6475579	6475579	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:6475579G>A	uc002mfe.2	-	13	935	c.843C>T	c.(841-843)GCC>GCT	p.A281A	DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Silent_p.A237A	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	281	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CGTCCTCCAGGGCTTTTTCTC	0.622000												
C3	718	broad.mit.edu	37	19	6707204	6707204	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:6707204G>A	uc002mfm.2	-	17	2190	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	710	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AAACGGGTCCGGCGCTGGCAC	0.657000												
MUC16	94025	broad.mit.edu	37	19	9061337	9061337	+	Silent	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:9061337A>C	uc002mkp.2	-	3	26313	c.26109T>G	c.(26107-26109)ACT>ACG	p.T8703T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8705	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCAGGGAGGAAGTTGGCTGTG	0.493000												
MUC16	94025	broad.mit.edu	37	19	9061989	9061989	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:9061989A>C	uc002mkp.2	-	3	25661	c.25457T>G	c.(25456-25458)ATT>AGT	p.I8486S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8488	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTCTGTCATAATGGGGGAAGT	0.488000												
KLF1	10661	broad.mit.edu	37	19	12997936	12997936	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:12997936C>T	uc002mvo.2	-	1	82	c.19G>A	c.(19-21)GCC>ACC	p.A7T		NM_006563	NP_006554	Q13351	KLF1_HUMAN	erythroid Kruppel-like factor	7	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGCAAGGCGGTCTCGGCT	0.652000												
CD97	976	broad.mit.edu	37	19	14517953	14517953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:14517953G>A	uc002myl.2	+	18	2411	c.2288G>A	c.(2287-2289)CGG>CAG	p.R763Q	CD97_uc002mym.2_Missense_Mutation_p.R714Q|CD97_uc002myn.2_Missense_Mutation_p.R670Q	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	763	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						TTCGACGATCGGAGCTTGGTG	0.597000												
PLEKHF1	79156	broad.mit.edu	37	19	30165082	30165082	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:30165082G>A	uc002nsh.3	+	2	438	c.336G>A	c.(334-336)TCG>TCA	p.S112S	PLEKHF1_uc002nsi.3_Silent_p.S197S	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	112	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TTGTGGTGTCGGCCGCCTCCG	0.657000												
LRP3	4037	broad.mit.edu	37	19	33696647	33696647	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:33696647C>T	uc010edh.2	+	5	1064	c.971C>T	c.(970-972)ACG>ATG	p.T324M	LRP3_uc010xrp.1_Missense_Mutation_p.T198M|LRP3_uc002nuk.3_Missense_Mutation_p.T198M	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	324	Extracellular (Potential).|CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					CTGCTGCAGACGCTGTCCTAC	0.736000												
NFKBID	84807	broad.mit.edu	37	19	36386962	36386962	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:36386962G>A	uc002oci.1	-	9	1100	c.526C>T	c.(526-528)CGG>TGG	p.R176W	NFKBID_uc002och.1_5'UTR|NFKBID_uc002ocj.1_Missense_Mutation_p.R191W	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	176	ANK 4.				inflammatory response	nucleus					0						CTCAGCACCCGGGGACAGAGG	0.627000												
ZNF573	126231	broad.mit.edu	37	19	38229531	38229531	+	Silent	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:38229531A>G	uc002ohe.2	-	4	1882	c.1860T>C	c.(1858-1860)AGT>AGC	p.S620S	ZNF573_uc010efs.2_Silent_p.S533S|ZNF573_uc002ohd.2_Silent_p.S618S|ZNF573_uc002ohf.2_Silent_p.S562S|ZNF573_uc002ohg.2_Silent_p.S532S	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	600	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTGAAGCACGACTGAAGGCCT	0.413000												
MARK4	57787	broad.mit.edu	37	19	45801008	45801008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:45801008G>A	uc002pbb.1	+	15	1678	c.1673G>A	c.(1672-1674)CGC>CAC	p.R558H	MARK4_uc002pba.1_Missense_Mutation_p.R558H			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	558					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAGCGGAGCCGCCTGGCACGT	0.711000												
CCDC155	147872	broad.mit.edu	37	19	49913073	49913073	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:49913073G>A	uc002pnm.1	+	15	1384	c.1210G>A	c.(1210-1212)GTC>ATC	p.V404I	CCDC155_uc010emx.1_Missense_Mutation_p.V375I	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	404						integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2						GTGGGAGGAAGTCATCCATGA	0.552000												
PPP2R1A	5518	broad.mit.edu	37	19	52722958	52722958	+	Silent	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:52722958G>T	uc002pyp.2	+	10	1302	c.1143G>T	c.(1141-1143)CGG>CGT	p.R381R	PPP2R1A_uc010ydk.1_Silent_p.R326R|PPP2R1A_uc002pyq.2_Silent_p.R202R	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	381	PP2A subunit B binding.|HEAT 10.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTGAGGTACGGCTGAACATCA	0.547000			Mis		clear cell ovarian carcinoma							
EPS8L1	54869	broad.mit.edu	37	19	55597230	55597230	+	Silent	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:55597230A>G	uc002qis.3	+	15	1511	c.1407A>G	c.(1405-1407)GAA>GAG	p.E469E	EPS8L1_uc010ess.1_Silent_p.E483E|EPS8L1_uc010yfr.1_Silent_p.E405E|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Silent_p.E342E|EPS8L1_uc002qiv.2_Silent_p.E147E|EPS8L1_uc002qiw.2_Silent_p.E248E	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	469						cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGGAGCCAGAATCTGAGCCTC	0.587000												
ZNF71	58491	broad.mit.edu	37	19	57132977	57132977	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:57132977G>A	uc002qnm.3	+	3	560	c.322G>A	c.(322-324)GGC>AGC	p.G108S		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	108						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGTAAGGCGTGGCAAGAACTT	0.582000												
PEG3	5178	broad.mit.edu	37	19	57333083	57333083	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:57333083T>G	uc002qnu.2	-	4	956	c.605A>C	c.(604-606)AAA>ACA	p.K202T	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.K77T|ZIM2_uc002qnq.2_Missense_Mutation_p.K77T|ZIM2_uc010etp.2_Missense_Mutation_p.K77T|ZIM2_uc010ygs.1_Missense_Mutation_p.K77T|PEG3_uc002qnt.2_Missense_Mutation_p.K203T|PEG3_uc002qnv.2_Missense_Mutation_p.K202T|PEG3_uc002qnw.2_Missense_Mutation_p.K77T|PEG3_uc002qnx.2_Missense_Mutation_p.K76T|PEG3_uc010etr.2_Missense_Mutation_p.K202T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	202					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGCTTGTTTTCGCCACCAC	0.532000												
PXDN	7837	broad.mit.edu	37	2	1652664	1652664	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:1652664T>C	uc002qxa.2	-	17	2952	c.2888A>G	c.(2887-2889)GAG>GGG	p.E963G		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	963					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTCTCGTTCTCGTCCCGCAT	0.721000												
ZC3H6	376940	broad.mit.edu	37	2	113088967	113088967	+	Silent	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:113088967T>C	uc002thq.1	+	12	2866	c.2472T>C	c.(2470-2472)GAT>GAC	p.D824D		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	824							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						GCGATGATGATGATGAAGATA	0.423000												
TUBA3D	113457	broad.mit.edu	37	2	132240311	132240311	+	Missense_Mutation	SNP	G	G	A	rs138195510		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:132240311G>A	uc002tsu.3	+	5	1350	c.1243G>A	c.(1243-1245)GAG>AAG	p.E415K		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	415					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGGCATGGAAGAGGGAGAGTT	0.597000												
NCKAP5	344148	broad.mit.edu	37	2	133540288	133540288	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:133540288T>G	uc002ttp.2	-	14	4470	c.4096A>C	c.(4096-4098)AGT>CGT	p.S1366R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1366							protein binding				0						GGCAACTTACTTGGGCTCCCA	0.632000												
LRP1B	53353	broad.mit.edu	37	2	141208232	141208232	+	Splice_Site	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:141208232T>G	uc002tvj.1	-	63	10936	c.9964_splice	c.e63-1	p.F3322_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B						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)		GCAACGAAACTTAAAAAAGAA	0.363000										TSP Lung(27;0.18)		
SCN3A	6328	broad.mit.edu	37	2	165952151	165952151	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:165952151A>C	uc002ucx.2	-	25	4793	c.4301T>G	c.(4300-4302)CTT>CGT	p.L1434R	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.L1385R|SCN3A_uc002ucz.2_Missense_Mutation_p.L1385R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1434						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TACAGGCTGAAGTTTAACCTA	0.264000												
TTN	7273	broad.mit.edu	37	2	179428834	179428834	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:179428834G>T	uc010zfg.1	-	275	74545	c.74321C>A	c.(74320-74322)ACT>AAT	p.T24774N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18469N|TTN_uc010zfi.1_Missense_Mutation_p.T18402N|TTN_uc010zfj.1_Missense_Mutation_p.T18277N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25701							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)			TCCTCCATCAGTCCGTATACA	0.403000												
GTF3C3	9330	broad.mit.edu	37	2	197656104	197656104	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:197656104T>G	uc002uts.2	-	4	582	c.492A>C	c.(490-492)GAA>GAC	p.E164D	GTF3C3_uc010zgu.1_Missense_Mutation_p.E164D|GTF3C3_uc002utu.2_Missense_Mutation_p.E164D	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	164	TPR 1.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						CCTCTTCACGTTCTCCTCGAG	0.418000												
NIF3L1	60491	broad.mit.edu	37	2	201757042	201757042	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:201757042C>T	uc002uwm.2	+	2	467	c.376C>T	c.(376-378)CCT>TCT	p.P126S	NIF3L1_uc002uwl.2_Missense_Mutation_p.P99S|NIF3L1_uc002uwn.2_Missense_Mutation_p.P99S|NIF3L1_uc002uwo.2_Missense_Mutation_p.P126S|NIF3L1_uc002uwp.2_Missense_Mutation_p.P126S|NIF3L1_uc002uwq.2_Missense_Mutation_p.P126S	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	126					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						TATCTACTCTCCTCATACAGC	0.522000												
ZDBF2	57683	broad.mit.edu	37	2	207171207	207171207	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:207171207A>C	uc002vbp.2	+	5	2205	c.1955A>C	c.(1954-1956)AAG>ACG	p.K652T		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	652	Potential.						nucleic acid binding|zinc ion binding			ovary(3)	3						CTGAAGGAGAAGAATGCTGAC	0.438000												
ZDBF2	57683	broad.mit.edu	37	2	207171930	207171930	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:207171930A>G	uc002vbp.2	+	5	2928	c.2678A>G	c.(2677-2679)AAG>AGG	p.K893R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	893							nucleic acid binding|zinc ion binding			ovary(3)	3						GCTGTTAAAAAGCTAAATCCT	0.348000												
ZDBF2	57683	broad.mit.edu	37	2	207172948	207172948	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:207172948A>C	uc002vbp.2	+	5	3946	c.3696A>C	c.(3694-3696)GAA>GAC	p.E1232D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1232							nucleic acid binding|zinc ion binding			ovary(3)	3						TTGACACGGAAGATAGGAGAA	0.428000												
SERPINE2	5270	broad.mit.edu	37	2	224847456	224847456	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:224847456T>G	uc002vnu.2	-	6	1170	c.927A>C	c.(925-927)AAA>AAC	p.K309N	SERPINE2_uc002vnt.2_Missense_Mutation_p.K309N|SERPINE2_uc010zlr.1_Missense_Mutation_p.K321N|SERPINE2_uc002vnv.2_Missense_Mutation_p.K309N	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	309					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGCCAAGAACTTTCAGCGGCT	0.338000												
DOCK10	55619	broad.mit.edu	37	2	225659637	225659637	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:225659637T>C	uc010fwz.1	-	45	5352	c.5113A>G	c.(5113-5115)AGT>GGT	p.S1705G	DOCK10_uc002vob.2_Missense_Mutation_p.S1699G|DOCK10_uc002voa.2_Missense_Mutation_p.S361G|DOCK10_uc002voc.2_Missense_Mutation_p.S559G	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1705	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGGCCATACTTTCCAGCCAG	0.493000												
COL4A3	1285	broad.mit.edu	37	2	228135486	228135486	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:228135486G>A	uc002vom.1	+	25	1738	c.1576G>A	c.(1576-1578)GGT>AGT	p.G526S	COL4A3_uc002von.1_Missense_Mutation_p.G526S|COL4A3_uc002voo.1_Missense_Mutation_p.G526S|COL4A3_uc002vop.1_Missense_Mutation_p.G526S|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	526	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACTACCCTAGGGTTTCCCAGG	0.448000												
PSMD1	5707	broad.mit.edu	37	2	231931790	231931790	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:231931790A>T	uc002vrn.1	+	5	606	c.475A>T	c.(475-477)AGA>TGA	p.R159*	PSMD1_uc002vrm.1_Nonsense_Mutation_p.R159*|PSMD1_uc010fxu.1_Nonsense_Mutation_p.R23*	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	159					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGAGACACGAAGACTGGACGT	0.383000												
PER2	8864	broad.mit.edu	37	2	239186565	239186565	+	Missense_Mutation	SNP	C	C	T	rs35572922	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:239186565C>T	uc002vyc.2	-	2	250	c.13G>A	c.(13-15)GCG>ACG	p.A5T	PER2_uc010znv.1_Missense_Mutation_p.A5T|PER2_uc010znw.1_Missense_Mutation_p.A5T|PER2_uc010fyx.1_Missense_Mutation_p.A5T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	5					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGAAATTCCGCGTATCCATTC	0.602000												
C20orf12	55184	broad.mit.edu	37	20	18407803	18407803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:18407803C>A	uc010zsa.1	-	10	1128	c.919G>T	c.(919-921)GAG>TAG	p.E307*	C20orf12_uc002wqp.3_Nonsense_Mutation_p.E39*|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Nonsense_Mutation_p.E174*|C20orf12_uc002wqq.3_Nonsense_Mutation_p.E288*|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	115						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				ATTACCTTCTCCTTAACAACA	0.468000												
C20orf26	26074	broad.mit.edu	37	20	20232238	20232238	+	Splice_Site	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:20232238G>T	uc002wru.2	+	20	2236	c.2160_splice	c.e20-1	p.D720_splice	C20orf26_uc010zse.1_Splice_Site_p.D700_splice|C20orf26_uc002wrw.2_Splice_Site|C20orf26_uc002wrv.2_Splice_Site_p.D76_splice	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074											ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TCTCTTTGCAGCCACTGTTTT	0.502000												
HCK	3055	broad.mit.edu	37	20	30671801	30671801	+	Nonsense_Mutation	SNP	C	C	T	rs144393224		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:30671801C>T	uc002wxh.2	+	7	808	c.637C>T	c.(637-639)CGA>TGA	p.R213*	HCK_uc010gdy.2_Nonsense_Mutation_p.R192*|HCK_uc002wxi.2_Nonsense_Mutation_p.R191*	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	213	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATATCCCCCCGAAGCACCTT	0.587000												
FAM83D	81610	broad.mit.edu	37	20	37580424	37580424	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:37580424C>G	uc002xjg.2	+	4	1150	c.1109C>G	c.(1108-1110)ACT>AGT	p.T370S		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	340					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				CTGTCAAGTACTCCCAGGAAG	0.582000												
ZNF335	63925	broad.mit.edu	37	20	44587884	44587884	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr20:44587884T>G	uc002xqw.2	-	15	2332	c.2209A>C	c.(2209-2211)AGT>CGT	p.S737R	ZNF335_uc010zxk.1_Missense_Mutation_p.S582R	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGGGCCGCACTGTGCTGCTGC	0.662000												
TPTE	7179	broad.mit.edu	37	21	10944719	10944719	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr21:10944719A>C	uc002yip.1	-	11	883	c.515T>G	c.(514-516)GTT>GGT	p.V172G	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V154G|TPTE_uc002yir.1_Missense_Mutation_p.V134G|TPTE_uc010gkv.1_Missense_Mutation_p.V34G	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	172	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACGACATCAACCAGCAGAAG	0.284000												
KRTAP13-2	337959	broad.mit.edu	37	21	31744089	31744089	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr21:31744089C>T	uc002ynz.3	-	1	469	c.443G>A	c.(442-444)CGC>CAC	p.R148H		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	148						intermediate filament					0						GTAGGTTGGGCGGCAGAATCC	0.532000												
PCNT	5116	broad.mit.edu	37	21	47776997	47776997	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr21:47776997C>T	uc002zji.3	+	13	2152	c.2045C>T	c.(2044-2046)TCG>TTG	p.S682L	PCNT_uc002zjj.2_Missense_Mutation_p.S564L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	682	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GTGCAACTTTCGCTTCTTCAG	0.488000												
UPB1	51733	broad.mit.edu	37	22	24891382	24891382	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr22:24891382C>T	uc003aaf.2	+	1	132	c.11C>T	c.(10-12)GCT>GTT	p.A4V	UPB1_uc003aae.2_5'UTR|UPB1_uc011ajt.1_Missense_Mutation_p.A4V|C22orf45_uc003aad.1_5'Flank	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	4					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					ATGGCGGGCGCTGAGTGGAAG	0.662000												
APOBEC3B	9582	broad.mit.edu	37	22	39387489	39387489	+	Silent	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr22:39387489A>G	uc003awo.1	+	6	930	c.876A>G	c.(874-876)GAA>GAG	p.E292E	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.E267E|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	292					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					GTGCCGGGGAAGTGCGTGCGT	0.577000												
NBEAL2	23218	broad.mit.edu	37	3	47047069	47047069	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:47047069G>A	uc003cqp.2	+	41	6830	c.6651G>A	c.(6649-6651)CCG>CCA	p.P2217P	NBEAL2_uc010hjm.1_Silent_p.P1594P|NBEAL2_uc010hjn.1_Silent_p.P613P|NBEAL2_uc010hjo.1_5'UTR	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2217	BEACH.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGCTCATCCCGGAATTCTTCT	0.612000												
QARS	5859	broad.mit.edu	37	3	49136421	49136421	+	Missense_Mutation	SNP	G	G	A	rs144563810	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:49136421G>A	uc003cvx.2	-	19	1765	c.1760C>T	c.(1759-1761)TCC>TTC	p.S587F	QARS_uc011bcc.1_Missense_Mutation_p.S40F|QARS_uc011bcd.1_Missense_Mutation_p.S442F|QARS_uc003cvy.2_Missense_Mutation_p.S442F|QARS_uc011bce.1_Missense_Mutation_p.S576F	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	587					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GATGTCCAAGGACTATAGCAG	0.517000												
ERC2	26059	broad.mit.edu	37	3	56173555	56173555	+	Silent	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:56173555A>G	uc003dhr.1	-	6	1711	c.1455T>C	c.(1453-1455)GCT>GCC	p.A485A		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	485	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GAAGGATGGCAGCCCTCTGTT	0.418000												
SNTN	132203	broad.mit.edu	37	3	63645500	63645500	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:63645500C>G	uc003dlr.2	+	3	265	c.245C>G	c.(244-246)GCC>GGC	p.A82G		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	82						cilium	calcium ion binding			ovary(1)	1						AAAGCTATTGCCAAAGATCTG	0.418000												
ROBO1	6091	broad.mit.edu	37	3	78680440	78680440	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:78680440T>A	uc003dqe.2	-	25	3705	c.3497A>T	c.(3496-3498)AAG>ATG	p.K1166M	ROBO1_uc003dqb.2_Missense_Mutation_p.K1127M|ROBO1_uc003dqc.2_Missense_Mutation_p.K1066M|ROBO1_uc003dqd.2_Missense_Mutation_p.K1121M|ROBO1_uc010hoh.2_Missense_Mutation_p.K358M|ROBO1_uc011bgl.1_Missense_Mutation_p.K738M	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1166	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGCCCCTTTCTTGTGCCCCTG	0.443000												
BOC	91653	broad.mit.edu	37	3	113005559	113005559	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:113005559G>C	uc003dzx.2	+	20	3816	c.3195G>C	c.(3193-3195)GAG>GAC	p.E1065D	BOC_uc003dzy.2_Missense_Mutation_p.E1065D|BOC_uc003dzz.2_Missense_Mutation_p.E1066D|BOC_uc003eab.2_Missense_Mutation_p.E766D|BOC_uc003eac.2_Missense_Mutation_p.E380D	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	1065	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			CAGTTGAAGAGGTGGACAGTC	0.582000												
CLSTN2	64084	broad.mit.edu	37	3	140280993	140280993	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:140280993A>C	uc003etn.2	+	13	2245	c.2055A>C	c.(2053-2055)GAA>GAC	p.E685D		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	685	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CCAAATCAGAAGTCTTAGAGG	0.478000										HNSCC(16;0.037)		
IGSF10	285313	broad.mit.edu	37	3	151166629	151166629	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:151166629C>G	uc011bod.1	-	4	1140	c.1140G>C	c.(1138-1140)TTG>TTC	p.L380F		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	380					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATCACTGTACAAAGCCAAAA	0.398000												
C3orf79	152118	broad.mit.edu	37	3	153220203	153220203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:153220203C>T	uc003ezt.2	+	3	297	c.235C>T	c.(235-237)CAA>TAA	p.Q79*		NM_001101337	NP_001094807	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	79											0						AAAGAAGATTCAAGGAGGAAC	0.388000												
MLF1	4291	broad.mit.edu	37	3	158315949	158315949	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:158315949G>A	uc003fcb.2	+	4	497	c.360G>A	c.(358-360)CCG>CCA	p.P120P	MLF1_uc003fbz.2_Silent_p.P95P|MLF1_uc003fca.2_Silent_p.P95P|MLF1_uc003fbx.2_Silent_p.P110P|MLF1_uc003fcc.2_Silent_p.P151P|MLF1_uc003fby.2_Silent_p.P46P|MLF1_uc010hvx.2_Intron	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	120	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GAGATGAACCGCCAAAGGTTT	0.383000			T	NPM1	AML							
GFM1	85476	broad.mit.edu	37	3	158364655	158364655	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:158364655G>A	uc003fce.2	+	4	598	c.491G>A	c.(490-492)CGC>CAC	p.R164H	GFM1_uc003fcd.2_Missense_Mutation_p.R164H|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.R76H	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	164					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGATGAAGCGCTACAACGTT	0.498000												
SLITRK3	22865	broad.mit.edu	37	3	164905717	164905717	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr3:164905717C>G	uc003fej.3	-	2	3346	c.2902G>C	c.(2902-2904)GAA>CAA	p.E968Q	SLITRK3_uc003fek.2_Missense_Mutation_p.E968Q	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	968	Cytoplasmic (Potential).					integral to membrane		p.E968*(1)		ovary(6)|skin(3)|pancreas(1)	10						TCCAGGACTTCGAGGTAATCC	0.388000										HNSCC(40;0.11)		
MRFAP1L1	114932	broad.mit.edu	37	4	6710983	6710983	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:6710983T>C	uc003gjn.2	-	1	614	c.374A>G	c.(373-375)GAG>GGG	p.E125G	MRFAP1L1_uc003gjo.2_Missense_Mutation_p.E125G	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	125											0						TCAAGAAGACTCGCTTCTCTC	0.527000												
KLF3	51274	broad.mit.edu	37	4	38696529	38696529	+	Splice_Site	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:38696529T>C	uc003gth.3	+	5	1188	c.856_splice	c.e5+2	p.G286_splice		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)						multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						CACACACAGGTAATAGAAACA	0.398000												
GABRA2	2555	broad.mit.edu	37	4	46307630	46307630	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:46307630G>T	uc003gxc.3	-	6	1331	c.658C>A	c.(658-660)CTG>ATG	p.L220M	GABRA2_uc010igc.2_Missense_Mutation_p.L220M|GABRA2_uc011bzc.1_Missense_Mutation_p.L165M|GABRA2_uc003gxe.2_Missense_Mutation_p.L220M	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	220	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGCCCAGCAGGTCATATTGA	0.363000												
GABRA4	2557	broad.mit.edu	37	4	46930536	46930536	+	Silent	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:46930536A>C	uc003gxg.2	-	9	1510	c.1371T>G	c.(1369-1371)ACT>ACG	p.T457T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	457	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCGGATAGAAGTAGGAGAAG	0.473000												
ADAMTS3	9508	broad.mit.edu	37	4	73280572	73280572	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:73280572T>G	uc003hgk.1	-	4	658	c.621A>C	c.(619-621)GAA>GAC	p.E207D		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	207					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGGAGCCTGTTCTACAGCTG	0.368000												
PRKG2	5593	broad.mit.edu	37	4	82090920	82090920	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:82090920T>C	uc003hmh.2	-	4	759	c.745A>G	c.(745-747)ATT>GTT	p.I249V	PRKG2_uc011cch.1_Missense_Mutation_p.I249V	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	249	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						ACATTGGTAATAGCTTTAGAA	0.318000												
RASGEF1B	153020	broad.mit.edu	37	4	82355043	82355043	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr4:82355043G>A	uc003hmi.1	-	12	1419	c.1275C>T	c.(1273-1275)GAC>GAT	p.D425D	RASGEF1B_uc003hmj.1_Silent_p.D424D|RASGEF1B_uc010ijq.1_Silent_p.D383D	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	425	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						AGATCTTCCGGTCCCTCTCAA	0.408000												
KIAA0947	23379	broad.mit.edu	37	5	5464018	5464018	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:5464018A>C	uc003jdm.3	+	13	4793	c.4571A>C	c.(4570-4572)CAA>CCA	p.Q1524P		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1524										ovary(1)|central_nervous_system(1)	2						ATTAGTTCTCAAATCTATGAT	0.393000												
CDH12	1010	broad.mit.edu	37	5	21755799	21755799	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:21755799C>T	uc010iuc.2	-	11	2244	c.1786G>A	c.(1786-1788)GGC>AGC	p.G596S	CDH12_uc011cno.1_Missense_Mutation_p.G556S|CDH12_uc003jgk.2_Missense_Mutation_p.G596S|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	596	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AGGATGGTGCCATCAGAGTCA	0.433000										HNSCC(59;0.17)		
CDH10	1008	broad.mit.edu	37	5	24491771	24491771	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:24491771G>A	uc003jgr.1	-	11	2122	c.1790C>T	c.(1789-1791)TCC>TTC	p.S597F	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	597	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGCACTGCAGGATTGCATGTT	0.527000										HNSCC(23;0.051)		
CDH9	1007	broad.mit.edu	37	5	26988365	26988365	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:26988365C>T	uc003jgs.1	-	2	245	c.76G>A	c.(76-78)GAA>AAA	p.E26K	CDH9_uc010iug.2_Missense_Mutation_p.E26K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	26					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTAGGTTTTTCTTGTAATAGG	0.398000												
NLN	57486	broad.mit.edu	37	5	65073295	65073295	+	Silent	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:65073295A>G	uc003juf.2	+	4	608	c.492A>G	c.(490-492)CGA>CGG	p.R164R	NLN_uc003jue.2_Silent_p.R164R|NLN_uc003jug.2_5'UTR	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	164					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AGGCCAGACGATACTTGGAAA	0.358000												
AP3B1	8546	broad.mit.edu	37	5	77334987	77334987	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:77334987C>G	uc003kfj.2	-	23	2814	c.2689G>C	c.(2689-2691)GAT>CAT	p.D897H		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	897					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACCATCTTATCACCAAAAATG	0.373000									Hermansky-Pudlak_syndrome			
GPR98	84059	broad.mit.edu	37	5	89979689	89979689	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:89979689A>C	uc003kju.2	+	28	6047	c.5951A>C	c.(5950-5952)AAA>ACA	p.K1984T	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1984	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTCTGAGAAAAACAGACCT	0.398000												
GIN1	54826	broad.mit.edu	37	5	102432413	102432413	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:102432413T>G	uc003koa.1	-	7	1208	c.1126A>C	c.(1126-1128)AAT>CAT	p.N376H	GIN1_uc003kob.1_Missense_Mutation_p.N229H|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	376					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TTCCACCAATTTTTCCTTTGT	0.363000												
EPB41L4A	64097	broad.mit.edu	37	5	111541193	111541193	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:111541193T>C	uc003kpv.1	-	14	1461	c.1187A>G	c.(1186-1188)AAA>AGA	p.K396R	EPB41L4A_uc003kpp.1_Missense_Mutation_p.K23R	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	396						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ATTCTTTGCTTTCTTAAAGCT	0.289000												
PCDHA10	56139	broad.mit.edu	37	5	140237119	140237119	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:140237119C>T	uc003lhx.2	+	1	1486	c.1486C>T	c.(1486-1488)CGG>TGG	p.R496W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.R496W|PCDHA10_uc011dad.1_Missense_Mutation_p.R496W	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	496	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGTGGAGCGGCGGTTGGG	0.672000												
PCDHGB2	56103	broad.mit.edu	37	5	140742086	140742086	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:140742086C>G	uc003ljs.1	+	1	2384	c.2384C>G	c.(2383-2385)GCC>GGC	p.A795G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A795G|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	795	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCATGGAGCCGCTGGGGTC	0.408000												
GABRA6	2559	broad.mit.edu	37	5	161113276	161113276	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:161113276T>G	uc003lyu.2	+	2	417	c.79T>G	c.(79-81)TTC>GTC	p.F27V		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	27	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAGGCAACTTCTACTCAGA	0.478000										TCGA Ovarian(5;0.080)		
LMAN2	10960	broad.mit.edu	37	5	176765499	176765499	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:176765499G>A	uc003mge.2	-	3	660	c.423C>T	c.(421-423)CGC>CGT	p.R141R	LMAN2_uc003mgd.2_Silent_p.R141R	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	141	Lumenal (Potential).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CTGGCACGAGGCGGTCCCGGG	0.652000												
ZNF454	285676	broad.mit.edu	37	5	178392185	178392185	+	Silent	SNP	G	G	A	rs149750769		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr5:178392185G>A	uc003mjo.1	+	5	1051	c.780G>A	c.(778-780)ACG>ACA	p.T260T	ZNF454_uc010jkz.1_Silent_p.T260T	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	260	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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)	all cancers(165;0.234)		CCTCACTTACGTACCATCAGA	0.418000												
KIF13A	63971	broad.mit.edu	37	6	17794587	17794587	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:17794587G>T	uc003ncg.3	-	25	3220	c.3115C>A	c.(3115-3117)CAG>AAG	p.Q1039K	KIF13A_uc003ncf.2_Missense_Mutation_p.Q1039K|KIF13A_uc003nch.3_Missense_Mutation_p.Q1039K|KIF13A_uc003nci.3_Missense_Mutation_p.Q1039K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1039					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCTGAATGCTGCACAGGTTTC	0.517000												
HIST1H3J	8356	broad.mit.edu	37	6	27858243	27858243	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:27858243G>C	uc003nka.2	-	1	328	c.328C>G	c.(328-330)CTC>GTC	p.L110V	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_003526	P68431	H31_HUMAN	histone cluster 1, H3j	110					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						ATAGCACAGAGGTTGGTGTCT	0.552000												
VARS	7407	broad.mit.edu	37	6	31748259	31748259	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:31748259G>A	uc003nxe.2	-	25	3307	c.2884C>T	c.(2884-2886)CGT>TGT	p.R962C	VARS_uc003nxf.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	962					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CCAAGGCCACGAAGGGCAAAC	0.602000												
TULP1	7287	broad.mit.edu	37	6	35478785	35478785	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:35478785C>A	uc003okv.3	-	5	364	c.352G>T	c.(352-354)GAG>TAG	p.E118*	TULP1_uc003okw.3_Nonsense_Mutation_p.E65*	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	118	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						tcctcctcctcctcTGCAGGT	0.383000												
TDRD6	221400	broad.mit.edu	37	6	46657864	46657864	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:46657864A>G	uc003oyj.2	+	1	1999	c.1999A>G	c.(1999-2001)AAG>GAG	p.K667E	TDRD6_uc010jze.2_Missense_Mutation_p.K661E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	667					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TGGATATGCCAAGTATCAGGA	0.378000												
C6orf150	115004	broad.mit.edu	37	6	74161872	74161872	+	Silent	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:74161872T>C	uc003pgx.1	-	1	172	c.33A>G	c.(31-33)AGA>AGG	p.R11R		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	11											0						CCTCGGAAGCTCTCTGCATGG	0.657000												
COL12A1	1303	broad.mit.edu	37	6	75833720	75833720	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:75833720A>C	uc003phs.2	-	42	6981	c.6815T>G	c.(6814-6816)GTT>GGT	p.V2272G	COL12A1_uc003pht.2_Missense_Mutation_p.V1108G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2272	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTGCACAAAAACAGTGACACC	0.428000												
KIAA1009	22832	broad.mit.edu	37	6	84894937	84894937	+	Missense_Mutation	SNP	G	G	A	rs150209774		TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:84894937G>A	uc010kbp.2	-	13	1728	c.1631C>T	c.(1630-1632)TCG>TTG	p.S544L	KIAA1009_uc003pkj.3_Missense_Mutation_p.S468L|KIAA1009_uc003pkk.2_Missense_Mutation_p.S544L|KIAA1009_uc003pki.3_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	544					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GGTAGAAATCGATCTCAAGTT	0.343000												
C6orf167	253714	broad.mit.edu	37	6	97599657	97599657	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:97599657A>G	uc003ppb.2	-	23	3738	c.3472T>C	c.(3472-3474)TCT>CCT	p.S1158P	C6orf167_uc011eaf.1_Missense_Mutation_p.S1118P	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1158					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CTAAACACAGAAGTCAGCTGG	0.413000												
CCNC	892	broad.mit.edu	37	6	100010763	100010763	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:100010763G>C	uc003pqe.2	-	2	381	c.94C>G	c.(94-96)CTC>GTC	p.L32V	uc003pqc.2_Intron|CCNC_uc003pqd.2_5'UTR|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Missense_Mutation_p.L32V|CCNC_uc011eah.1_Intron|CCNC_uc003pqf.2_Missense_Mutation_p.L32V	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	32					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TCCTCTGAGAGAAACTTTAAA	0.303000												
MCHR2	84539	broad.mit.edu	37	6	100390875	100390875	+	Silent	SNP	G	G	A	rs139619654	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:100390875G>A	uc003pqh.1	-	4	852	c.537C>T	c.(535-537)GAC>GAT	p.D179D	MCHR2_uc003pqi.1_Silent_p.D179D	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	179	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTCAACACCGTCTTTAAATT	0.428000												
RFPL4B	442247	broad.mit.edu	37	6	112671505	112671505	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:112671505C>A	uc003pvx.1	+	3	907	c.595C>A	c.(595-597)CCT>ACT	p.P199T		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	199	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGAGAGAATTCCTGCAAGCCC	0.473000												
TSPYL1	7259	broad.mit.edu	37	6	116600397	116600397	+	Silent	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr6:116600397A>G	uc003pwp.3	-	1	884	c.597T>C	c.(595-597)GGT>GGC	p.G199G	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	199					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ctatttcttcaccttctggcg	0.209000												
FTSJ2	29960	broad.mit.edu	37	7	2274902	2274902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:2274902C>T	uc003slm.2	-	3	625	c.596G>A	c.(595-597)AGT>AAT	p.S199N	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Missense_Mutation_p.S45N|FTSJ2_uc003sll.2_Missense_Mutation_p.S45N|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Missense_Mutation_p.S45N	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	199					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		ACGGCTTTGACTTCCAGCCCA	0.512000												
PDE1C	5137	broad.mit.edu	37	7	32109917	32109917	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:32109917C>G	uc003tcm.1	-	1	558	c.89G>C	c.(88-90)CGG>CCG	p.R30P	PDE1C_uc003tcn.1_Missense_Mutation_p.R30P|PDE1C_uc003tco.1_Intron|PDE1C_uc003tcr.2_Missense_Mutation_p.R30P|PDE1C_uc003tcs.2_Missense_Mutation_p.R30P	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	30					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CCCGCGGAGCCGAAGCCAGAT	0.507000												
ABCA13	154664	broad.mit.edu	37	7	48431709	48431709	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:48431709A>C	uc003toq.2	+	38	11871	c.11846A>C	c.(11845-11847)AAG>ACG	p.K3949T	ABCA13_uc010kys.1_Missense_Mutation_p.K1023T|ABCA13_uc003tos.1_Missense_Mutation_p.K775T|ABCA13_uc010kyt.1_RNA	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3949	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAGTGGACCAAGAAGGAGCTG	0.507000												
ZKSCAN1	7586	broad.mit.edu	37	7	99621500	99621500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:99621500G>A	uc003usk.1	+	2	590	c.371G>A	c.(370-372)GGA>GAA	p.G124E	ZKSCAN1_uc003usj.2_Missense_Mutation_p.G123E|ZKSCAN1_uc003usl.1_Missense_Mutation_p.G88E|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	124	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCGATAGTGGAGAGGAGGCC	0.517000												
SLC12A9	56996	broad.mit.edu	37	7	100457773	100457773	+	Silent	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:100457773C>T	uc003uwp.2	+	9	1279	c.1137C>T	c.(1135-1137)GGC>GGT	p.G379G	SLC12A9_uc003uwq.2_Silent_p.G290G|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Silent_p.G115G|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Silent_p.G115G|SLC12A9_uc003uwv.2_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	379	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTTTTCTAGGCGTGATCTTGG	0.587000												
RELN	5649	broad.mit.edu	37	7	103338449	103338449	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:103338449T>A	uc003vca.2	-	10	1154	c.994A>T	c.(994-996)AAT>TAT	p.N332Y	RELN_uc010liz.2_Missense_Mutation_p.N332Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	332					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACACGAAGATTTTCCTGCTTC	0.453000												
CBLL1	79872	broad.mit.edu	37	7	107399250	107399250	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:107399250T>C	uc003veq.2	+	6	1433	c.1103T>C	c.(1102-1104)GTA>GCA	p.V368A	CBLL1_uc011kme.1_Missense_Mutation_p.V247A|CBLL1_uc011kmf.1_Missense_Mutation_p.V367A	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	368	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						CCTCACTTGGTATATAGCCAA	0.527000												
CFTR	1080	broad.mit.edu	37	7	117292912	117292912	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:117292912C>G	uc003vjd.2	+	24	4022	c.3890C>G	c.(3889-3891)TCT>TGT	p.S1297C	CFTR_uc011knq.1_Missense_Mutation_p.S703C	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1297	Cytoplasmic (Potential).|ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTATTTTTTCTGGAACATTT	0.279000									Cystic_Fibrosis			
SLC13A1	6561	broad.mit.edu	37	7	122811949	122811949	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:122811949C>T	uc003vkm.2	-	3	263	c.238G>A	c.(238-240)GCT>ACT	p.A80T	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	80	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TTGAAATAAGCAGATGCCACC	0.333000												
LUC7L2	51631	broad.mit.edu	37	7	139090517	139090517	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:139090517A>C	uc003vux.2	+	5	868	c.494A>C	c.(493-495)AAG>ACG	p.K165T	LUC7L2_uc011kqs.1_Missense_Mutation_p.K162T|LUC7L2_uc011kqt.1_Missense_Mutation_p.K231T|LUC7L2_uc003vuy.2_Missense_Mutation_p.K164T|LUC7L2_uc003vuz.1_Missense_Mutation_p.K112T|LUC7L2_uc003vva.2_Missense_Mutation_p.K112T	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	165	Potential.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					GCACGGGCAAAGAAAAGAGAA	0.368000												
TBXAS1	6916	broad.mit.edu	37	7	139706972	139706972	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:139706972C>A	uc011kqv.1	+	11	1521	c.1357C>A	c.(1357-1359)CCA>ACA	p.P453T	TBXAS1_uc003vvh.2_Missense_Mutation_p.P407T|TBXAS1_uc010lne.2_Missense_Mutation_p.P339T|TBXAS1_uc011kqu.1_Missense_Mutation_p.P358T|TBXAS1_uc003vvi.2_Missense_Mutation_p.P407T|TBXAS1_uc003vvj.2_Missense_Mutation_p.P407T|TBXAS1_uc011kqw.1_Missense_Mutation_p.P387T	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	406	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					GATGTACCCGCCAGCTTTCAG	0.642000												
HTR5A	3361	broad.mit.edu	37	7	154863136	154863136	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr7:154863136C>T	uc003wlu.1	+	1	591	c.527C>T	c.(526-528)CCG>CTG	p.P176L	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	176	Helical; Name=4; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCTCTGGCCCCGCTGCTTTTT	0.627000												
CSMD1	64478	broad.mit.edu	37	8	2966175	2966175	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:2966175T>G	uc011kwk.1	-	44	7097	c.6707A>C	c.(6706-6708)AAG>ACG	p.K2236T	CSMD1_uc011kwj.1_Missense_Mutation_p.K1628T|CSMD1_uc010lrg.2_Missense_Mutation_p.K304T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2236	Extracellular (Potential).|CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTGGAACTTGAGCAGGAC	0.502000												
DLC1	10395	broad.mit.edu	37	8	13356730	13356730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:13356730C>T	uc003wwm.2	-	2	1295	c.851G>A	c.(850-852)TGC>TAC	p.C284Y	DLC1_uc003wwn.2_Missense_Mutation_p.C284Y|DLC1_uc011kxy.1_Missense_Mutation_p.C284Y	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	284					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TCCATTGGGGCAGGAAGGAGG	0.438000												
MTUS1	57509	broad.mit.edu	37	8	17570732	17570732	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:17570732G>C	uc003wxv.2	-	6	3088	c.2614C>G	c.(2614-2616)CTT>GTT	p.L872V	MTUS1_uc003wxt.2_Missense_Mutation_p.L119V|MTUS1_uc011kyg.1_Missense_Mutation_p.L17V|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.L818V	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	872						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CCTGCATTAAGAGCTGTAAAT	0.294000												
ATP6V1B2	526	broad.mit.edu	37	8	20055041	20055041	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:20055041C>G	uc003wzp.2	+	1	338	c.124C>G	c.(124-126)CAG>GAG	p.Q42E		NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	42					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CTACCTCTCCCAGCCTCGCCT	0.647000												
KCNU1	157855	broad.mit.edu	37	8	36766874	36766874	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:36766874G>A	uc010lvw.2	+	21	2239	c.2152G>A	c.(2152-2154)GCA>ACA	p.A718T	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	718	Segment S9.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCATATTGTAGCATGTGTATT	0.458000												
ASH2L	9070	broad.mit.edu	37	8	37972519	37972519	+	Splice_Site	SNP	G	G	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:37972519G>C	uc003xkt.3	+	7	835	c.777_splice	c.e7+1	p.Q259_splice	ASH2L_uc011lbk.1_Splice_Site_p.Q120_splice|ASH2L_uc003xku.3_Splice_Site_p.Q165_splice|ASH2L_uc010lwa.2_Splice_Site_p.Q165_splice	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a						hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TTTGGATCAGGTACATTAATA	0.358000												
SNTG1	54212	broad.mit.edu	37	8	51314780	51314780	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:51314780G>T	uc010lxy.1	+	5	409	c.38G>T	c.(37-39)GGA>GTA	p.G13V	SNTG1_uc003xqs.1_Missense_Mutation_p.G13V|SNTG1_uc010lxz.1_Missense_Mutation_p.G13V|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	13					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)				ACAAAGACAGGAATTTGTTTG	0.383000												
PREX2	80243	broad.mit.edu	37	8	69002838	69002838	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:69002838T>G	uc003xxv.1	+	20	2165	c.2138T>G	c.(2137-2139)CTT>CGT	p.L713R	PREX2_uc003xxu.1_Missense_Mutation_p.L713R|PREX2_uc011lez.1_Missense_Mutation_p.L648R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	713	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCAGCTGGTCTTCACCCTGGA	0.393000												
TMEM70	54968	broad.mit.edu	37	8	74893615	74893615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:74893615C>T	uc003yab.2	+	3	629	c.542C>T	c.(541-543)GCC>GTC	p.A181V	TMEM70_uc003yac.2_3'UTR	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	transmembrane protein 70 isoform a	181					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				ovary(1)	1	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			ACTTATAAAGCCATTACCTAC	0.403000												
LRRC24	441381	broad.mit.edu	37	8	145749546	145749546	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:145749546G>A	uc003zdm.2	-	4	687	c.555C>T	c.(553-555)ATC>ATT	p.I185I	LRRC24_uc003zdn.2_Silent_p.I182I|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_Intron	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24 precursor	185	LRR 6.					integral to membrane					0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTCTCGGCTGATGGTGCCCA	0.627000												
LINGO2	158038	broad.mit.edu	37	9	27950090	27950090	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:27950090T>C	uc003zqu.1	-	2	774	c.580A>G	c.(580-582)ACA>GCA	p.T194A	LINGO2_uc010mjf.1_Missense_Mutation_p.T194A|LINGO2_uc003zqv.1_Missense_Mutation_p.T194A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	194	Extracellular (Potential).|LRR 6.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGGCTTCTGTTGGTACTGCT	0.473000												
ANKRD20A4	728747	broad.mit.edu	37	9	69423643	69423643	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:69423643A>G	uc004afn.2	+	15	2051	c.1939A>G	c.(1939-1941)AGT>GGT	p.S647G	uc010mnx.1_5'Flank	NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	647	Potential.										0						AGTAGAAATGAGTTCTGCTAT	0.333000												
PIP5K1B	8395	broad.mit.edu	37	9	71532553	71532553	+	Silent	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:71532553C>A	uc004agu.2	+	9	1166	c.861C>A	c.(859-861)ACC>ACA	p.T287T	PIP5K1B_uc011lrq.1_Silent_p.T287T|PIP5K1B_uc004agv.2_RNA	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	287	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			stomach(1)	1				Lung(182;0.133)		AGGAGGAGACCCCACAAAATG	0.473000												
VPS13A	23230	broad.mit.edu	37	9	79836216	79836216	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:79836216T>C	uc004akr.2	+	13	1365	c.1105T>C	c.(1105-1107)TAT>CAT	p.Y369H	VPS13A_uc004akp.3_Missense_Mutation_p.Y369H|VPS13A_uc004akq.3_Missense_Mutation_p.Y369H|VPS13A_uc004aks.2_Missense_Mutation_p.Y369H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	369					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TAAAGAACTGTATAAAAAAAA	0.348000												
ZNF169	169841	broad.mit.edu	37	9	97062730	97062730	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:97062730G>A	uc004aum.1	+	5	995	c.890G>A	c.(889-891)CGA>CAA	p.R297Q		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	297	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GAATGTGGGCGACACTTCAGG	0.562000												
SVEP1	79987	broad.mit.edu	37	9	113170371	113170371	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:113170371C>G	uc010mtz.2	-	38	7846	c.7509G>C	c.(7507-7509)GAG>GAC	p.E2503D	SVEP1_uc010mty.2_Missense_Mutation_p.E429D	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2503	Sushi 19.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CATTCAAAATCTCCTTGGGTT	0.473000												
COL27A1	85301	broad.mit.edu	37	9	116931258	116931258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:116931258C>T	uc011lxl.1	+	3	1423	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.R325C	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	475	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGCCTCTGCCCGCACCAGCAC	0.577000												
ASTN2	23245	broad.mit.edu	37	9	119976963	119976963	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:119976963T>C	uc004bjs.1	-	3	790	c.689A>G	c.(688-690)CAG>CGG	p.Q230R	ASTN2_uc004bjr.1_Missense_Mutation_p.Q230R|ASTN2_uc004bjt.1_Missense_Mutation_p.Q230R	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	230	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCAACGTCGCTGGGCGTACAG	0.612000												
PTGS1	5742	broad.mit.edu	37	9	125140225	125140225	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:125140225C>T	uc004bmg.1	+	3	277	c.142C>T	c.(142-144)CGC>TGC	p.R48C	PTGS1_uc011lys.1_Missense_Mutation_p.R23C|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.R48C|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	48	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CATCTGTGTCCGCTTCGGCCT	0.607000												
ZNF79	7633	broad.mit.edu	37	9	130206601	130206601	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:130206601C>G	uc004bqw.3	+	5	1036	c.622C>G	c.(622-624)CTT>GTT	p.L208V	ZNF79_uc011maf.1_Missense_Mutation_p.L184V|ZNF79_uc011mag.1_Missense_Mutation_p.L184V	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	208	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CTGTTCTTCCCTTTCTCAGCA	0.483000												
NUP188	23511	broad.mit.edu	37	9	131757647	131757647	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:131757647G>A	uc004bws.1	+	30	3227	c.3205G>A	c.(3205-3207)GAG>AAG	p.E1069K	NUP188_uc004bwu.2_Missense_Mutation_p.E412K	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1069					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						ATTTTCCATCGAGAAACGCTT	0.443000												
TOR1B	27348	broad.mit.edu	37	9	132571733	132571733	+	Silent	SNP	C	C	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:132571733C>A	uc004byk.1	+	5	942	c.882C>A	c.(880-882)GCC>GCA	p.A294A		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	294					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)				AGATGAGGGCCCGTGGTTCTG	0.473000												
MRPS2	51116	broad.mit.edu	37	9	138395577	138395577	+	Silent	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr9:138395577C>T	uc004cfv.3	+	4	563	c.489C>T	c.(487-489)GGC>GGT	p.G163G	MRPS2_uc004cfw.3_Silent_p.G73G|MRPS2_uc004cfx.3_Silent_p.G78G|MRPS2_uc010nat.2_Silent_p.G144G|uc004cfy.2_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	163					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GTGACTGTGGCGAGTACGCCC	0.607000												
ZNF645	158506	broad.mit.edu	37	X	22292332	22292332	+	Silent	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:22292332A>C	uc004dai.1	+	1	1273	c.1224A>C	c.(1222-1224)TCA>TCC	p.S408S		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	408						intracellular	zinc ion binding			lung(1)|pancreas(1)	2						CACCTCCTTCAACCCTACATG	0.463000												
DMD	1756	broad.mit.edu	37	X	32430014	32430014	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:32430014T>C	uc004dda.1	-	30	4332	c.4088A>G	c.(4087-4089)AAG>AGG	p.K1363R	DMD_uc004dcw.2_Missense_Mutation_p.K19R|DMD_uc004dcx.2_Missense_Mutation_p.K22R|DMD_uc004dcz.2_Missense_Mutation_p.K1240R|DMD_uc004dcy.1_Missense_Mutation_p.K1359R|DMD_uc004ddb.1_Missense_Mutation_p.K1355R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1363	Spectrin 9.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAAGCAACTTTTGCCTCCT	0.393000												
AKAP4	8852	broad.mit.edu	37	X	49958929	49958929	+	Silent	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:49958929G>A	uc004dow.1	-	5	559	c.435C>T	c.(433-435)GGC>GGT	p.G145G	AKAP4_uc004dov.1_Silent_p.G136G|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Silent_p.G136G	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	145					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TGTGATATTCGCCCTCTGTGT	0.448000												
COX7B	1349	broad.mit.edu	37	X	77158163	77158163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:77158163G>A	uc004ecu.1	+	2	154	c.64G>A	c.(64-66)GCA>ACA	p.A22T		NM_001866	NP_001857	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb precursor	22					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						GCAAACAATGGCAAGGCAGAG	0.373000												
NOX1	27035	broad.mit.edu	37	X	100106242	100106242	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:100106242G>T	uc004egj.2	-	8	1083	c.877C>A	c.(877-879)CAG>AAG	p.Q293K	NOX1_uc004egl.3_Missense_Mutation_p.Q293K|NOX1_uc010nne.2_Missense_Mutation_p.Q256K	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	293	FAD-binding FR-type.|Extracellular (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						ACAACCTTCTGCTGGGAGCGG	0.423000												
GPRASP2	114928	broad.mit.edu	37	X	101971307	101971307	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:101971307C>T	uc004ejk.2	+	4	2844	c.1510C>T	c.(1510-1512)CAT>TAT	p.H504Y	GPRASP2_uc004ejl.2_Missense_Mutation_p.H504Y|GPRASP2_uc004ejm.2_Missense_Mutation_p.H504Y|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	504						cytoplasm	protein binding			ovary(1)	1						TGGTCTTTTTCATGGGGTTGG	0.517000												
NRK	203447	broad.mit.edu	37	X	105153261	105153261	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:105153261A>C	uc004emd.2	+	13	1931	c.1628A>C	c.(1627-1629)AAC>ACC	p.N543T	NRK_uc010npc.1_Missense_Mutation_p.N211T	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	543	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						CAGAGGCACAACCAGGTGCCT	0.572000										HNSCC(51;0.14)		
TMEM164	84187	broad.mit.edu	37	X	109247079	109247079	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:109247079G>T	uc004eom.2	+	2	396	c.77G>T	c.(76-78)GGC>GTC	p.G26V	TMEM164_uc004eol.2_Intron|TMEM164_uc010npq.2_Missense_Mutation_p.G26V	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN	transmembrane protein 164 isoform b	26						integral to membrane				large_intestine(1)|lung(1)|skin(1)	3						GGCAATGGGGGCCCCGACTGT	0.622000												
OCRL	4952	broad.mit.edu	37	X	128695194	128695194	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:128695194A>C	uc004euq.2	+	10	1028	c.863A>C	c.(862-864)TAC>TCC	p.Y288S	OCRL_uc004eur.2_Missense_Mutation_p.Y288S	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	288					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						GCCTTCTTCTACTTTGAATCT	0.393000												
ARHGAP36	158763	broad.mit.edu	37	X	130217933	130217933	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:130217933G>A	uc004evz.2	+	4	890	c.545G>A	c.(544-546)CGT>CAT	p.R182H	ARHGAP36_uc004ewa.2_Missense_Mutation_p.R170H|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R151H|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R46H	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	182	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						TTCACTCGCCGTGGGCGTCGA	0.627000												
F8	2157	broad.mit.edu	37	X	154159499	154159499	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chrX:154159499A>C	uc004fmt.2	-	14	2737	c.2566T>G	c.(2566-2568)TTC>GTC	p.F856V		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	856	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTGGCCTGAAGTGTGTCATT	0.443000												
DOCK1	1793	broad.mit.edu	37	10	129202588	129202589	+	Splice_Site	INS	-	-	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:129202588_129202589insA	uc001ljt.2	+	40	4019	c.3955_splice	c.e40-1	p.K1319_splice	DOCK1_uc010qun.1_Splice_Site_p.K1340_splice|DOCK1_uc009yaq.2_Splice_Site_p.K314_splice	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTCCTTCCAGAAAAAACAGGC	0.426												
DOCK1	1793	broad.mit.edu	37	10	129202589	129202590	+	Splice_Site	INS	-	-	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:129202588_129202589G>GA	uc010qun.2	+	40	4082	c.4018_splice	c.e40-1	p.K1340_splice	DOCK1_uc001ljt.3_Splice_Site_p.K1319_splice|DOCK1_uc009yaq.3_Splice_Site_p.K314_splice	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1319	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTCCTTCCAGAAAAAACAGGC	0.426												
DOCK1	1793	broad.mit.edu	37	10	129202588	129202589	+	Splice_Site	INS	-	-	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:129202588_129202589insA	uc001ljt.2	+	40	4019	c.3955_splice	c.e40-1	p.K1319_splice	DOCK1_uc010qun.1_Splice_Site_p.K1340_splice|DOCK1_uc009yaq.2_Splice_Site_p.K314_splice	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTCCTTCCAGAAAAAACAGGC	0.426												
TBX3	6926	broad.mit.edu	37	12	115114134	115114134	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:115114134delC	uc001tvt.1	-	6	2047	c.1083delG	c.(1081-1083)GGGfs	p.G361fs	TBX3_uc001tvu.1_Frame_Shift_Del_p.G341fs	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	361					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGTTCGATGTCCCTACAGTGG	0.547												
PRKAB1	5564	broad.mit.edu	37	12	120110200	120110201	+	Frame_Shift_Ins	INS	-	-	G	rs115821895	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:120110200_120110201insG	uc009zwu.2	+	3	357_358	c.254_255insG	c.(253-255)ACGfs	p.T85fs	PRKAB1_uc001txg.2_Frame_Shift_Ins_p.T85fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	85					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGAA	0.520												
CALR	811	broad.mit.edu	37	19	13054654	13054674	+	In_Frame_Del	DEL	ATGAGGAGGATGAGGAGGACA	ATGAGGAGGATGAGGAGGACA	-	rs141114321	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr19:13054654_13054674delATGAGGAGGATGAGGAGGACA	uc002mvu.2	+	9	1261_1281	c.1181_1201delATGAGGAGGATGAGGAGGACA	c.(1180-1203)GATGAGGAGGATGAGGAGGACAAG>GAG	p.394_401DEEDEEDK>E	CALR_uc002mvv.2_RNA|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	394_401	C-domain.|Asp/Glu/Lys-rich.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	aaagatgaggatgaggaggatgaggaggacaaggaggaaga	0.362												
FN1	2335	broad.mit.edu	37	2	216238071	216238071	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:216238071delT	uc002vfa.2	-	39	6487	c.6221delA	c.(6220-6222)GAGfs	p.E2074fs	FN1_uc002vfb.2_Frame_Shift_Del_p.E1893fs|FN1_uc002vfc.2_Frame_Shift_Del_p.E1893fs|FN1_uc002vfd.2_Frame_Shift_Del_p.E2074fs|FN1_uc002vfe.2_Frame_Shift_Del_p.E1983fs|FN1_uc002vff.2_Frame_Shift_Del_p.E1983fs|FN1_uc002vfg.2_Frame_Shift_Del_p.E1893fs|FN1_uc002vfh.2_Frame_Shift_Del_p.E1893fs|FN1_uc002vfi.2_Frame_Shift_Del_p.E2074fs|FN1_uc002vfj.2_Frame_Shift_Del_p.E1984fs|FN1_uc002vez.2_Frame_Shift_Del_p.E268fs|FN1_uc010zjp.1_Frame_Shift_Del_p.E611fs|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Frame_Shift_Del_p.E436fs|FN1_uc010fvd.1_Frame_Shift_Del_p.E165fs	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1983	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCAGGGGCTCGCTCTTCTG	0.403												
TP53I3	9540	broad.mit.edu	37	2	24303724	24303726	+	In_Frame_Del	DEL	TCT	TCT	-	rs61758081	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr2:24303723_24303725CTCT>C	uc002rey.2	-	3	1073_1075	c.583_585AGAG>G	c.(583-585)gag>G	p.E195del	LOC375190_uc002rew.3_Intron|TP53I3_uc002rex.2_In_Frame_Del_p.E195del|TP53I3_uc002rez.2_In_Frame_Del_p.E195del|TP53I3_uc010ykk.2_In_Frame_Del_p.E106del	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	Homo sapiens tumor protein p53 inducible protein 3 (TP53I3), transcript variant 2, mRNA.	195					NADP metabolic process|induction of apoptosis by oxidative stress		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	p.E195D(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGAAATCCTCTTTTTTGTAA	0.443												
VPS13B	157680	broad.mit.edu	37	8	100108564	100108564	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr8:100108563_100108563TA>T	uc003yiv.3	+	3	426	c.315_315TA>T	c.(313-315)tctfs	p.S105fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.S105fs|VPS13B_uc003yit.3_Frame_Shift_Del_p.S105fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.S105fs|VPS13B_uc003yis.3_Frame_Shift_Del_p.S105fs|VPS13B_uc011lgy.2_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	105					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTGTGGTTCTAATTCTACCA	0.358												
DOCK1	1793	broad.mit.edu	37	10	129202589	129202590	+	Splice_Site	INS	-	-	A			TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr10:129202588_129202589G>GA	uc010qun.2	+	40	4082	c.4018_splice	c.e40-1	p.K1340_splice	DOCK1_uc001ljt.3_Splice_Site_p.K1319_splice|DOCK1_uc009yaq.3_Splice_Site_p.K314_splice	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1319	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTCCTTCCAGAAAAAACAGGC	0.426												
PRKAB1	5564	broad.mit.edu	37	12	120110201	120110202	+	Frame_Shift_Ins	INS	-	-	G	rs115821895	byFrequency	TCGA-BR-8289-01A-11D-2340-08	TCGA-BR-8289-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40818d57-8b27-494c-b964-e2d5c25fc89a	9adabd0d-8d21-4b18-8c22-09bc808d1d5d	g.chr12:120110200_120110201C>CG	uc009zwu.3	+	2	357_358	c.254_255C>CG	c.(253-255)acgfs	p.T85fs	PRKAB1_uc001txg.3_Frame_Shift_Ins_p.T85fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	85					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGAA	0.520