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
TP73	7161	broad.mit.edu	37	1	3638768	3638768	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:3638768G>T	uc001akp.2	+	5	723	c.613G>T	c.(613-615)GAA>TAA	p.E205*	TP73_uc001akq.2_Nonsense_Mutation_p.E205*|TP73_uc010nzj.1_Nonsense_Mutation_p.E156*|TP73_uc001akr.2_Nonsense_Mutation_p.E156*|TP73_uc009vlk.1_Nonsense_Mutation_p.E156*|TP73_uc001aks.2_Nonsense_Mutation_p.E156*|TP73_uc010nzk.1_Nonsense_Mutation_p.E134*	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	205	DNA-binding (Potential).				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGACTTCAACGAAGGTGAGGG	0.652000												
PRAMEF18	391003	broad.mit.edu	37	1	13695903	13695903	+	Silent	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:13695903G>T	uc009vny.1	-	3	1109	c.1062C>A	c.(1060-1062)CTC>CTA	p.L354L		NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN	PRAME family member 18	354											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACTAAGAAGAGGGTCTGAA	0.542000												
CLCNKB	1188	broad.mit.edu	37	1	16374433	16374433	+	Missense_Mutation	SNP	C	C	T	rs145962381		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:16374433C>T	uc001axw.3	+	5	472	c.392C>T	c.(391-393)GCG>GTG	p.A131V	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.A131V|CLCNKB_uc001axy.3_5'Flank	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	131					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACCATGTTGGCGGGTGTGGTC	0.587000												
PADI4	23569	broad.mit.edu	37	1	17690151	17690151	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:17690151C>T	uc001baj.2	+	16	1921	c.1893C>T	c.(1891-1893)AAC>AAT	p.N631N		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	631					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCTTCATCAACGACTTCTTCA	0.612000												
HMGB4	127540	broad.mit.edu	37	1	34329993	34329993	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:34329993C>A	uc001bxp.2	+	2	1944	c.201C>A	c.(199-201)GAC>GAA	p.D67E	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_5'UTR	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN	HMG2 like isoform 1	67						nucleus	DNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCAAACTCGACAAAGCCCGAT	0.468000												
C1orf216	127703	broad.mit.edu	37	1	36181267	36181267	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:36181267C>G	uc001bzh.1	-	2	1144	c.656G>C	c.(655-657)AGG>ACG	p.R219T		NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	hypothetical protein LOC127703	219										skin(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGTGCTGCCCTCTGCTGGAG	0.567000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MTF1	4520	broad.mit.edu	37	1	38288031	38288031	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:38288031G>A	uc001cce.1	-	9	1670	c.1529C>T	c.(1528-1530)GCG>GTG	p.A510V	MTF1_uc009vvj.1_Missense_Mutation_p.A201V	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	510						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCCACTGCCGCTGCTGATGC	0.587000												
POMGNT1	55624	broad.mit.edu	37	1	46662468	46662468	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:46662468G>A	uc001cpe.2	-	4	453	c.289C>T	c.(289-291)CGG>TGG	p.R97W	POMGNT1_uc010olx.1_Missense_Mutation_p.R75W|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_5'UTR|POMGNT1_uc001cpg.2_Missense_Mutation_p.R97W|POMGNT1_uc001cpf.2_5'UTR|POMGNT1_uc001cpj.2_Missense_Mutation_p.R97W	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	97	Lumenal (Potential).				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCCAGGACCCGCCGGGGACCA	0.602000												
LRP8	7804	broad.mit.edu	37	1	53724104	53724104	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:53724104C>T	uc001cvi.1	-	14	2238	c.2096G>A	c.(2095-2097)GGC>GAC	p.G699D	LRP8_uc001cvh.1_Missense_Mutation_p.G252D|LRP8_uc001cvk.1_Missense_Mutation_p.G529D|LRP8_uc001cvj.1_Missense_Mutation_p.G699D|LRP8_uc001cvl.1_Missense_Mutation_p.G570D|LRP8_uc001cvm.1_Missense_Mutation_p.G284D	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	699	Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						GTATTCACAGCCTCCATTAGG	0.567000												
PRMT6	55170	broad.mit.edu	37	1	107599750	107599750	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:107599750G>T	uc010ous.1	+	1	484	c.413G>T	c.(412-414)GGA>GTA	p.G138V		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	138					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GTCCTGCCGGGACCAGTGGAG	0.667000												
OVGP1	5016	broad.mit.edu	37	1	111957788	111957788	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:111957788G>A	uc001eba.2	-	11	1391	c.1335C>T	c.(1333-1335)ACC>ACT	p.T445T	OVGP1_uc001eaz.2_Silent_p.T407T|OVGP1_uc010owb.1_Silent_p.T93T	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	445					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TACCTCTAGGGGTTATAGTCA	0.498000												
TCHHL1	126637	broad.mit.edu	37	1	152057468	152057468	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:152057468C>T	uc001ezo.1	-	3	2755	c.2690G>A	c.(2689-2691)AGG>AAG	p.R897K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	897							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCTTGCCTCCCTTTGTAGTAC	0.498000												
FLG	2312	broad.mit.edu	37	1	152279060	152279060	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:152279060C>G	uc001ezu.1	-	3	8338	c.8302G>C	c.(8302-8304)GAG>CAG	p.E2768Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2768	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCTGCTCATGGCGGGAT	0.582000									Ichthyosis			
FLG2	388698	broad.mit.edu	37	1	152323407	152323407	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:152323407C>A	uc001ezw.3	-	3	6928	c.6855G>T	c.(6853-6855)CAG>CAT	p.Q2285H	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2285							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGATCCTGGCTGTCTTTGTT	0.507000												
KPRP	448834	broad.mit.edu	37	1	152733756	152733756	+	Silent	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:152733756C>A	uc001fal.1	+	2	1750	c.1692C>A	c.(1690-1692)GGC>GGA	p.G564G		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	564						cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACCAAGGCAATGCCTTTG	0.522000												
LMNA	4000	broad.mit.edu	37	1	156106821	156106821	+	Splice_Site	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:156106821T>G	uc001fni.2	+	8	1737	c.1488_splice	c.e8+2	p.T496_splice	LMNA_uc001fnf.1_Splice_Site_p.T496_splice|LMNA_uc001fng.2_Splice_Site_p.T496_splice|LMNA_uc001fnh.2_Splice_Site_p.T496_splice|LMNA_uc009wro.1_Splice_Site_p.T496_splice|LMNA_uc010pgz.1_Splice_Site_p.T384_splice|LMNA_uc001fnj.2_Splice_Site_p.T415_splice|LMNA_uc001fnk.2_Splice_Site_p.T397_splice|LMNA_uc009wrp.2_3'UTR|LMNA_uc010pha.1_Splice_Site_p.T152_splice|LMNA_uc010phb.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor						cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					GTGGTGACGGTGAGTGGCAGG	0.597000									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome			
OR10J3	441911	broad.mit.edu	37	1	159284097	159284097	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:159284097A>G	uc010piu.1	-	1	353	c.353T>C	c.(352-354)GTC>GCC	p.V118A		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					ATATCCCATGACTGTGAGCAG	0.522000												
MAEL	84944	broad.mit.edu	37	1	166985522	166985522	+	Splice_Site	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:166985522G>A	uc001gdy.1	+	9	979	c.908_splice	c.e9+1	p.A303_splice	MAEL_uc001gdz.1_Splice_Site_p.A272_splice|MAEL_uc009wvf.1_Splice_Site	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						AGAAGATTGCGTAAGTTGGGG	0.368000												
C1orf9	51430	broad.mit.edu	37	1	172579318	172579318	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:172579318G>A	uc001giq.3	+	24	4000	c.3684G>A	c.(3682-3684)CCG>CCA	p.P1228P	C1orf9_uc009wwd.2_Silent_p.P1184P|C1orf9_uc010pmn.1_Silent_p.P857P|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	1228					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GATCATTGCCGAGCCTGCATG	0.383000												
ASTN1	460	broad.mit.edu	37	1	176915143	176915143	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:176915143G>T	uc001glc.2	-	13	2380	c.2168C>A	c.(2167-2169)ACC>AAC	p.T723N	ASTN1_uc001glb.1_Missense_Mutation_p.T723N|ASTN1_uc001gld.1_Missense_Mutation_p.T723N|ASTN1_uc009wwx.1_Missense_Mutation_p.T723N	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	731					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CCCAAAGAGGGTCTGGTTCAT	0.507000												
HMCN1	83872	broad.mit.edu	37	1	186101509	186101509	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:186101509T>A	uc001grq.1	+	86	13509	c.13280T>A	c.(13279-13281)GTG>GAG	p.V4427E	HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4427	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAAGCTGGGGTGGTGGAGCGC	0.388000												
TMCC2	9911	broad.mit.edu	37	1	205211050	205211050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:205211050G>A	uc001hbz.1	+	3	1069	c.625G>A	c.(625-627)GCC>ACC	p.A209T	TMCC2_uc010prf.1_Missense_Mutation_p.A131T	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	209						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGCCTGGCCGCCATCCTGCA	0.577000												
GNPAT	8443	broad.mit.edu	37	1	231401890	231401890	+	Silent	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:231401890T>G	uc001hup.3	+	7	1109	c.903T>G	c.(901-903)CCT>CCG	p.P301P	GNPAT_uc009xfo.1_Silent_p.P192P|GNPAT_uc009xfp.2_Silent_p.P240P	NM_014236	NP_055051	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	301					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			ovary(3)|breast(1)	4	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TAGGGGTTCCTAAACCAAAAG	0.343000												
OR2G2	81470	broad.mit.edu	37	1	247752051	247752051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:247752051C>A	uc010pyy.1	+	1	390	c.390C>A	c.(388-390)TGC>TGA	p.C130*		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTGTCTGCCGTCCTCTCC	0.542000												
ITIH5	80760	broad.mit.edu	37	10	7683969	7683969	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:7683969G>T	uc001ijq.2	-	3	299	c.220C>A	c.(220-222)CTG>ATG	p.L74M	ITIH5_uc001ijr.1_Missense_Mutation_p.L74M	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	74	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GCTCTGTTCAGCATTCTGCAG	0.453000												
SVIL	6840	broad.mit.edu	37	10	29839533	29839533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:29839533G>A	uc001iut.1	-	6	1573	c.820C>T	c.(820-822)CGA>TGA	p.R274*	SVIL_uc001iuu.1_Nonsense_Mutation_p.R274*|SVIL_uc009xld.1_Nonsense_Mutation_p.R274*	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	274					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TACCTGGGTCGGGCCTCAGGG	0.582000												
ERCC6	2074	broad.mit.edu	37	10	50690777	50690777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:50690777C>T	uc001jhs.3	-	10	2279	c.2125G>A	c.(2125-2127)GTC>ATC	p.V709I	ERCC6_uc010qgr.1_Missense_Mutation_p.V79I|ERCC6_uc001jhr.3_Missense_Mutation_p.V109I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	709					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GTGATGGGGACGGAGAACTGC	0.438000								Direct_reversal_of_damage|NER				
LRRTM3	347731	broad.mit.edu	37	10	68687592	68687592	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:68687592C>A	uc001jmz.1	+	2	1468	c.918C>A	c.(916-918)GAC>GAA	p.D306E	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.D306E	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	306	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CCCTCAATGACATCAGTCTTG	0.408000												
CDH23	64072	broad.mit.edu	37	10	73437442	73437442	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:73437442C>T	uc001jrx.3	+	15	2121	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	CDH23_uc001jry.2_Missense_Mutation_p.R198W|CDH23_uc001jrz.2_Missense_Mutation_p.R198W	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	582	Cadherin 6.|Extracellular (Potential).		R -> Q (in DFNB12).		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						ACAGCTGGTGCGGCTCCGGGT	0.507000												
PITX3	5309	broad.mit.edu	37	10	103990823	103990823	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:103990823C>T	uc001kuu.1	-	4	511	c.357G>A	c.(355-357)AAG>AAA	p.K119K		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	119	Homeobox.				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGCGCTCGCGCTTCCGCCATT	0.721000												
GSTO1	9446	broad.mit.edu	37	10	106019439	106019439	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:106019439C>T	uc001kya.2	+	3	258	c.249C>T	c.(247-249)ATC>ATT	p.I83I		NM_004832	NP_004823	P78417	GSTO1_HUMAN	glutathione-S-transferase omega 1	83	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity				0		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	GTCAGCTGATCTACGAGTCTG	0.463000												
SORCS3	22986	broad.mit.edu	37	10	107007078	107007078	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:107007078G>C	uc001kyi.1	+	22	3321	c.3094G>C	c.(3094-3096)GCT>CCT	p.A1032P	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1032	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATCAAGCGAGCTCTGGTTAA	0.378000												
DCLRE1A	9937	broad.mit.edu	37	10	115602170	115602170	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:115602170A>C	uc001law.2	-	6	3515	c.2597T>G	c.(2596-2598)GTA>GGA	p.V866G		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	866					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTTAGAGTTACAGCCTCAAA	0.413000								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
INPP5F	22876	broad.mit.edu	37	10	121586986	121586986	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:121586986G>A	uc001leo.2	+	20	3259	c.3093G>A	c.(3091-3093)GCG>GCA	p.A1031A	INPP5F_uc001lep.2_Silent_p.A421A	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1031							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTGAGCCAGCGCATTCAGTTG	0.483000												
CHST15	51363	broad.mit.edu	37	10	125769672	125769672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:125769672G>A	uc001lhl.2	-	7	2192	c.1679C>T	c.(1678-1680)ACG>ATG	p.T560M	CHST15_uc001lhm.2_Missense_Mutation_p.T560M|CHST15_uc001lhn.2_Missense_Mutation_p.T560M	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	560	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						CTCTCACGTCGTCTTCCACGC	0.552000												
CTBP2	1488	broad.mit.edu	37	10	126692055	126692055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:126692055C>T	uc009yak.2	-	4	352	c.65G>A	c.(64-66)CGC>CAC	p.R22H	CTBP2_uc009yal.2_Missense_Mutation_p.R22H|CTBP2_uc001lif.3_Missense_Mutation_p.R22H|CTBP2_uc001lih.3_Missense_Mutation_p.R22H|CTBP2_uc001lid.3_Missense_Mutation_p.R90H|CTBP2_uc001lie.3_Missense_Mutation_p.R562H	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	22					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GATCTGGGGGCGGATACCTGC	0.701000												
SLC5A12	159963	broad.mit.edu	37	11	26720006	26720006	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:26720006G>A	uc001mra.2	-	7	1211	c.898C>T	c.(898-900)CAC>TAC	p.H300Y	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.H300Y	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	300	Extracellular (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						TCTTTAAAGTGAGAGTACATG	0.478000												
LGR4	55366	broad.mit.edu	37	11	27393907	27393907	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:27393907A>T	uc001mrj.3	-	16	1903	c.1418T>A	c.(1417-1419)TTT>TAT	p.F473Y	LGR4_uc001mrk.3_Missense_Mutation_p.F449Y	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	473	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						ACAACCCCAAAATGCACAGCA	0.398000												
OR4A5	81318	broad.mit.edu	37	11	51412296	51412296	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:51412296A>C	uc001nhi.1	-	1	100	c.100T>G	c.(100-102)TTG>GTG	p.L34V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				ACTGTCACCAAGTATGTGAGT	0.423000												
OR5D18	219438	broad.mit.edu	37	11	55587542	55587542	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:55587542T>G	uc010rin.1	+	1	437	c.437T>G	c.(436-438)GTT>GGT	p.V146G		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				GTGCTGCTGGTTGTGGGATCC	0.463000												
ODZ4	26011	broad.mit.edu	37	11	78381536	78381536	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:78381536G>A	uc001ozl.3	-	32	6317	c.5854C>T	c.(5854-5856)CGC>TGC	p.R1952C	ODZ4_uc001ozk.3_Missense_Mutation_p.R177C|ODZ4_uc009yvb.1_Missense_Mutation_p.R536C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1952	YD 7.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GAAGAGAGGCGGTCATTCTTG	0.542000												
FAT3	120114	broad.mit.edu	37	11	92088390	92088390	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:92088390C>T	uc001pdj.3	+	1	3129	c.3112C>T	c.(3112-3114)CTC>TTC	p.L1038F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1038	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATGAAAACCTCCACACTCC	0.483000										TCGA Ovarian(4;0.039)		
NLRX1	79671	broad.mit.edu	37	11	119044606	119044606	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:119044606G>A	uc001pvu.2	+	5	863	c.648G>A	c.(646-648)GTG>GTA	p.V216V	NLRX1_uc010rzc.1_Silent_p.V38V|NLRX1_uc001pvv.2_Silent_p.V216V|NLRX1_uc001pvw.2_Silent_p.V216V|NLRX1_uc001pvx.2_Silent_p.V216V	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	216	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCAACTTGTGGCCCAGCGCT	0.637000												
TECTA	7007	broad.mit.edu	37	11	121023647	121023647	+	Missense_Mutation	SNP	G	G	A	rs150016625	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:121023647G>A	uc010rzo.1	+	12	4163	c.4163G>A	c.(4162-4164)CGC>CAC	p.R1388H		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1388	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCCAGCCCCGCTGCGCCGCC	0.607000												
PRB2	653247	broad.mit.edu	37	12	11546745	11546745	+	Silent	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:11546745A>C	uc010shk.1	-	3	302	c.267T>G	c.(265-267)CCT>CCG	p.P89P		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGACCTTGAGGTTTGTTGC	0.617000												
EMP1	2012	broad.mit.edu	37	12	13366432	13366432	+	Missense_Mutation	SNP	C	C	T	rs148486500		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:13366432C>T	uc001rbr.2	+	3	345	c.98C>T	c.(97-99)ACG>ATG	p.T33M	EMP1_uc009zhy.2_Intron|EMP1_uc010shr.1_Missense_Mutation_p.T33M	NM_001423	NP_001414	P54849	EMP1_HUMAN	epithelial membrane protein 1	33					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction					0		Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GTTTCCAATACGGTAGATGCA	0.388000												
ATF7IP	55729	broad.mit.edu	37	12	14613718	14613718	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:14613718C>A	uc001rbw.2	+	9	2606	c.2448C>A	c.(2446-2448)TTC>TTA	p.F816L	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.F816L|ATF7IP_uc001rbv.1_Missense_Mutation_p.F815L|ATF7IP_uc001rbx.2_Missense_Mutation_p.F815L|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.F816L|ATF7IP_uc001rca.2_Missense_Mutation_p.F816L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	816	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						ATGTTGAATTCATTTCTGTGC	0.458000												
LDHB	3945	broad.mit.edu	37	12	21807507	21807507	+	Silent	SNP	A	A	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:21807507A>T	uc001rfc.2	-	1	117	c.99T>A	c.(97-99)GGT>GGA	p.G33G	LDHB_uc001rfd.2_Silent_p.G33G|LDHB_uc001rfe.2_Silent_p.G33G	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	33	NAD (By similarity).				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)	CACACGCCATACCAACTTGTC	0.428000												
IFLTD1	160492	broad.mit.edu	37	12	25702400	25702400	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:25702400A>C	uc001rgs.2	-	2	257	c.107T>G	c.(106-108)TTG>TGG	p.L36W	IFLTD1_uc001rgt.1_Translation_Start_Site|IFLTD1_uc010sji.1_Missense_Mutation_p.L57W|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.L57W	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	36						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGAAGATGACAATGGCAGTGT	0.358000												
CNTN1	1272	broad.mit.edu	37	12	41386999	41386999	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:41386999G>A	uc001rmm.1	+	17	2154	c.2041G>A	c.(2041-2043)GTG>ATG	p.V681M	CNTN1_uc001rmn.1_Missense_Mutation_p.V670M	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	681	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGAATTCCGCGTGGTAGCAAC	0.388000												
KRT74	121391	broad.mit.edu	37	12	52967407	52967407	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:52967407C>A	uc001sap.1	-	1	203	c.155G>T	c.(154-156)AGC>ATC	p.S52I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	52	Head.|Gly-rich.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCCTCCAAGGCTATAGAGGCT	0.622000												
HOXC4	3221	broad.mit.edu	37	12	54447817	54447817	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:54447817C>T	uc001seu.2	+	3	791	c.111C>T	c.(109-111)TAC>TAT	p.Y37Y	HOXC4_uc001sex.2_Silent_p.Y37Y	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	37						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGGAATATTACGGCCGGACCA	0.532000												
NCKAP1L	3071	broad.mit.edu	37	12	54932722	54932722	+	Silent	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:54932722A>C	uc001sgc.3	+	30	3317	c.3238A>C	c.(3238-3240)AGA>CGA	p.R1080R	NCKAP1L_uc010sox.1_Silent_p.R622R|NCKAP1L_uc010soy.1_Silent_p.R1030R	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1080					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						GCTTAAAACCAGAAATCGAGA	0.443000												
TRHDE	29953	broad.mit.edu	37	12	72956687	72956687	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:72956687A>T	uc001sxa.2	+	9	1804	c.1774A>T	c.(1774-1776)ACA>TCA	p.T592S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	592	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GGATCAGTGGACACTCCAGAT	0.313000												
ANKS1B	56899	broad.mit.edu	37	12	100200244	100200244	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:100200244G>A	uc001tge.1	-	4	1024	c.607C>T	c.(607-609)CGC>TGC	p.R203C	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.R203C	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	203	ANK 6.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGCCATTGCGCGCAGCAAGG	0.493000												
DAO	1610	broad.mit.edu	37	12	109278977	109278977	+	Splice_Site	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:109278977G>A	uc001tnr.3	+	2	347	c.194_splice	c.e2+1	p.A65_splice	DAO_uc001tnq.3_Splice_Site_p.A65_splice|DAO_uc009zvb.2_Splice_Site|DAO_uc001tns.3_Splice_Site	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase						glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						CACAGGAGGCGTGAGTGAGGG	0.612000												
TPCN1	53373	broad.mit.edu	37	12	113706632	113706632	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr12:113706632G>A	uc001tuw.2	+	6	911	c.614G>A	c.(613-615)CGC>CAC	p.R205H	TPCN1_uc001tux.2_Missense_Mutation_p.R277H|TPCN1_uc010syt.1_Missense_Mutation_p.R137H	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	205	Helical; Name=S4 of repeat I; (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						CGAGCACTGCGCTGCATTTTC	0.642000												
MLNR	2862	broad.mit.edu	37	13	49795146	49795146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:49795146G>A	uc010tgj.1	+	1	673	c.673G>A	c.(673-675)GCG>ACG	p.A225T		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	225	Extracellular (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCCCGAGACCGCGGAGGCCGC	0.751000												
DZIP1	22873	broad.mit.edu	37	13	96237002	96237002	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:96237002G>A	uc001vmk.2	-	22	3364	c.2512C>T	c.(2512-2514)CCA>TCA	p.P838S	DZIP1_uc001vmi.2_Missense_Mutation_p.P86S|DZIP1_uc001vmj.2_Missense_Mutation_p.P314S|DZIP1_uc001vml.2_Missense_Mutation_p.P819S|DZIP1_uc001vmm.2_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	838					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTCCCTTTGGCCCCTTAGGA	0.393000												
NALCN	259232	broad.mit.edu	37	13	101759837	101759837	+	Splice_Site	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:101759837C>T	uc001vox.1	-	22	2768	c.2579_splice	c.e22+1	p.A860_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1							integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTGTACTTACGCGTTGAAGC	0.502000												
COL4A1	1282	broad.mit.edu	37	13	110804813	110804813	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:110804813G>A	uc001vqw.3	-	51	4918	c.4796C>T	c.(4795-4797)GCG>GTG	p.A1599V	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1599	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCGGGGGACGCCAGGGCTTG	0.587000												
SOS2	6655	broad.mit.edu	37	14	50628209	50628209	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:50628209C>T	uc001wxs.3	-	9	1285	c.1187G>A	c.(1186-1188)CGT>CAT	p.R396H	SOS2_uc010tql.1_Missense_Mutation_p.R363H|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.R84H	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	396					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCCAGGTCGACGTCTAGGTGA	0.418000												
KCNH5	27133	broad.mit.edu	37	14	63447746	63447746	+	Silent	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:63447746G>T	uc001xfx.2	-	6	837	c.786C>A	c.(784-786)ATC>ATA	p.I262I	KCNH5_uc001xfy.2_Silent_p.I262I|KCNH5_uc001xfz.1_Silent_p.I204I|KCNH5_uc001xga.2_Silent_p.I204I	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	262	Helical; Name=Segment S2; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AATTTAAAACGATGTCAACCA	0.423000												
PLEKHG3	26030	broad.mit.edu	37	14	65197573	65197573	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:65197573G>A	uc001xho.1	+	6	892	c.623G>A	c.(622-624)CGG>CAG	p.R208Q	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R152Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R208Q|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	208	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AAGTTCTTTCGGGACCGGCAG	0.647000												
SIPA1L1	26037	broad.mit.edu	37	14	72055143	72055143	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:72055143T>A	uc001xms.2	+	2	902	c.554T>A	c.(553-555)GTG>GAG	p.V185E	SIPA1L1_uc001xmt.2_Missense_Mutation_p.V185E|SIPA1L1_uc001xmu.2_Missense_Mutation_p.V185E|SIPA1L1_uc001xmv.2_Missense_Mutation_p.V185E	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	185					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAACTTGATGTGGATAGCTTT	0.448000												
C14orf174	161394	broad.mit.edu	37	14	77844277	77844277	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:77844277G>A	uc001xtq.1	+	1	516	c.516G>A	c.(514-516)TCG>TCA	p.S172S	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	172											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		CTGAGGTTTCGGGGGCCACAG	0.483000												
FLRT2	23768	broad.mit.edu	37	14	86088325	86088325	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:86088325G>T	uc001xvr.2	+	2	1234	c.467G>T	c.(466-468)CGG>CTG	p.R156L	FLRT2_uc010atd.2_Missense_Mutation_p.R156L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	156	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGGGCCTTCCGGGAGGCTATT	0.522000												
ATP10A	57194	broad.mit.edu	37	15	25959366	25959366	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr15:25959366T>G	uc010ayu.2	-	10	1905	c.1799A>C	c.(1798-1800)AAG>ACG	p.K600T		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	600	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACCGGGGACTTCAGCTCAAA	0.602000												
RYR3	6263	broad.mit.edu	37	15	33855184	33855184	+	Silent	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr15:33855184T>G	uc001zhi.2	+	11	1189	c.1119T>G	c.(1117-1119)ACT>ACG	p.T373T	RYR3_uc010bar.2_Silent_p.T373T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	373	Cytoplasmic (By similarity).|MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGCCAAAACTTCCCGCCTGG	0.453000												
RYR3	6263	broad.mit.edu	37	15	33925173	33925173	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr15:33925173A>G	uc001zhi.2	+	24	2961	c.2891A>G	c.(2890-2892)AAG>AGG	p.K964R	RYR3_uc010bar.2_Missense_Mutation_p.K964R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	964	2.|4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACGGCTATAAGCCAGCCCCT	0.388000												
TMC3	342125	broad.mit.edu	37	15	81625267	81625267	+	Silent	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr15:81625267G>T	uc002bgo.1	-	22	2796	c.2796C>A	c.(2794-2796)GTC>GTA	p.V932V	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	932	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						GCTGGCGGGGGACCCGGGATG	0.542000												
CLCN7	1186	broad.mit.edu	37	16	1500502	1500502	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:1500502G>A	uc002clv.2	-	17	1723	c.1613C>T	c.(1612-1614)GCG>GTG	p.A538V	CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Missense_Mutation_p.A514V	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	538						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				ACTCACCGCCGCCCCCGTGAG	0.697000												
HS3ST6	64711	broad.mit.edu	37	16	1961987	1961987	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:1961987G>A	uc002cnf.2	-	2	540	c.540C>T	c.(538-540)CAC>CAT	p.H180H		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	180											0						GGCCCAGGCCGTGGCGGAAGG	0.716000												
THOC6	79228	broad.mit.edu	37	16	3076271	3076271	+	Missense_Mutation	SNP	G	G	A	rs142007174	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:3076271G>A	uc002ctb.2	+	5	640	c.344G>A	c.(343-345)CGT>CAT	p.R115H	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.R115H|THOC6_uc002ctc.2_Missense_Mutation_p.R91H|THOC6_uc002cta.2_Missense_Mutation_p.R91H	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	115					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						GAGCTGTGGCGTCGTCAGCCT	0.577000												
C16orf89	146556	broad.mit.edu	37	16	5112558	5112558	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:5112558G>A	uc010bud.2	-	2	428	c.340C>T	c.(340-342)CGG>TGG	p.R114W	ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.R114W	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	hypothetical protein LOC146556 isoform 1	76						extracellular region				ovary(1)|skin(1)	2						CACTTCTCCCGGACACTTTTT	0.537000												
C16orf72	29035	broad.mit.edu	37	16	9210632	9210632	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:9210632G>T	uc002czm.2	+	4	1056	c.691G>T	c.(691-693)GAT>TAT	p.D231Y		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	hypothetical protein LOC29035	231										large_intestine(1)	1						TGGACTCCATGATGTCGATTT	0.478000												
ITGAL	3683	broad.mit.edu	37	16	30506112	30506112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:30506112G>A	uc002dyi.3	+	13	1620	c.1444G>A	c.(1444-1446)GCC>ACC	p.A482T	ITGAL_uc002dyj.3_Missense_Mutation_p.A399T|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	482	FG-GAP 5.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	GCTGATTGGTGCCCCACTGTT	0.587000												
NKD1	85407	broad.mit.edu	37	16	50667336	50667336	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:50667336G>A	uc002egg.1	+	10	1281	c.1057G>A	c.(1057-1059)GGC>AGC	p.G353S		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	353					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAAGGCCCAGGGCAAGAGTGT	0.672000												
CCDC135	84229	broad.mit.edu	37	16	57756726	57756726	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:57756726C>T	uc002emi.2	+	10	1470	c.1381C>T	c.(1381-1383)CGC>TGC	p.R461C	CCDC135_uc002emj.2_Missense_Mutation_p.R461C|CCDC135_uc002emk.2_Missense_Mutation_p.R396C	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	461						cytoplasm				central_nervous_system(1)	1						CCTTGTGAGCCGCCTCACCAC	0.597000												
CDH8	1006	broad.mit.edu	37	16	62055298	62055298	+	Silent	SNP	G	G	T	rs139797882		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:62055298G>T	uc002eog.1	-	2	262	c.10C>A	c.(10-12)CGG>AGG	p.R4R		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	4					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCGCTAGCCGTTCTGGCATG	0.443000												
CES2	8824	broad.mit.edu	37	16	66974528	66974528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:66974528G>A	uc002eqr.2	+	5	1938	c.938G>A	c.(937-939)GGA>GAA	p.G313E	CES2_uc002eqq.2_Missense_Mutation_p.G313E|CES2_uc002eqs.2_Missense_Mutation_p.G156E	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	249					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CTCTTCCACGGAGCCATCATG	0.607000												
TSNAXIP1	55815	broad.mit.edu	37	16	67860070	67860070	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:67860070G>A	uc002euj.2	+	10	1392	c.998G>A	c.(997-999)GGC>GAC	p.G333D	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.G210D|TSNAXIP1_uc002euf.3_Missense_Mutation_p.G66D|TSNAXIP1_uc010vka.1_Missense_Mutation_p.G387D|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.G318D|TSNAXIP1_uc002eug.3_Missense_Mutation_p.G41D|TSNAXIP1_uc002euh.3_Missense_Mutation_p.G41D|TSNAXIP1_uc002eui.3_Missense_Mutation_p.G41D|TSNAXIP1_uc002euk.2_Missense_Mutation_p.G66D	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	333					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GTGGCTGGGGGCCCAGAGCGC	0.642000												
CDH13	1012	broad.mit.edu	37	16	83781732	83781732	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr16:83781732C>A	uc002fgx.2	+	11	1678	c.1558C>A	c.(1558-1560)CCA>ACA	p.P520T	CDH13_uc010vns.1_Missense_Mutation_p.P567T|CDH13_uc010vnt.1_Missense_Mutation_p.P266T|CDH13_uc010vnu.1_Missense_Mutation_p.P481T	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	520	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTACAAGGACCCAGCAGGTTG	0.473000												
ALOX15	246	broad.mit.edu	37	17	4540419	4540419	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:4540419C>T	uc002fyh.2	-	7	956	c.942G>A	c.(940-942)ATG>ATA	p.M314I	ALOX15_uc010vsd.1_Missense_Mutation_p.M275I|ALOX15_uc010vse.1_Missense_Mutation_p.M336I	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	314	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCTGGATGACCATGGGCAAGA	0.517000												
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:7578524G>C	uc002gim.2	-	5	600	c.406C>G	c.(406-408)CAA>GAA	p.Q136E	TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.2_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.1_Missense_Mutation_p.Q97E	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	136	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (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.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(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)		TTGGCCAGTTGGCAAAACATC	0.562000		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)		
ACACA	31	broad.mit.edu	37	17	35545334	35545334	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:35545334G>A	uc002hnm.2	-	39	4739	c.4548C>T	c.(4546-4548)AAC>AAT	p.N1516N	ACACA_uc002hnk.2_Silent_p.N1438N|ACACA_uc002hnl.2_Silent_p.N1458N|ACACA_uc002hnn.2_Silent_p.N1516N|ACACA_uc002hno.2_Silent_p.N1553N|ACACA_uc010cuy.2_Silent_p.N210N	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1516					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCAGGCGAATGTTGATTTTCA	0.498000												
TTC25	83538	broad.mit.edu	37	17	40093094	40093094	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:40093094C>T	uc002hyj.3	+	5	628	c.539C>T	c.(538-540)TCG>TTG	p.S180L	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.S180L	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	180						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGGAAGGCCTCGCTCAAGAGT	0.512000												
ABCA8	10351	broad.mit.edu	37	17	66873741	66873741	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:66873741T>G	uc002jhp.2	-	31	4177	c.3998A>C	c.(3997-3999)AAC>ACC	p.N1333T	ABCA8_uc002jhq.2_Missense_Mutation_p.N1373T|ABCA8_uc010wqq.1_Missense_Mutation_p.N1368T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1333	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CACTGTCAGGTTGGGCCACAG	0.602000												
ABCA5	23461	broad.mit.edu	37	17	67257396	67257396	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr17:67257396G>A	uc002jif.2	-	25	4652	c.3434C>T	c.(3433-3435)GCG>GTG	p.A1145V	ABCA5_uc002jib.2_Missense_Mutation_p.A111V|ABCA5_uc002jic.2_Missense_Mutation_p.A368V|ABCA5_uc002jid.2_Missense_Mutation_p.A62V|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1145V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1145	Helical; (Potential).				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					ACAAGCCAACGCTGCCTAAAG	0.299000												
RALBP1	10928	broad.mit.edu	37	18	9513171	9513171	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:9513171G>A	uc002kob.2	+	2	351	c.128G>A	c.(127-129)CGC>CAC	p.R43H	RALBP1_uc002koc.2_Missense_Mutation_p.R43H	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	43					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						GGATTGTACCGCACTGGCGAG	0.542000												
RALBP1	10928	broad.mit.edu	37	18	9517284	9517284	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:9517284G>A	uc002kob.2	+	3	909	c.686G>A	c.(685-687)GGC>GAC	p.G229D	RALBP1_uc002koc.2_Missense_Mutation_p.G229D	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	229	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						AAGTGTGAAGGCATCTACAGA	0.403000												
ASXL3	80816	broad.mit.edu	37	18	31323566	31323566	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:31323566C>A	uc010dmg.1	+	12	3809	c.3754C>A	c.(3754-3756)CAT>AAT	p.H1252N	ASXL3_uc002kxq.2_Missense_Mutation_p.H959N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1252	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AATTAAAGAACATCCCTTTGT	0.368000												
NETO1	81832	broad.mit.edu	37	18	70451126	70451126	+	Silent	SNP	A	A	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:70451126A>G	uc002lkw.2	-	7	939	c.655T>C	c.(655-657)TTG>CTG	p.L219L	NETO1_uc002lkx.1_Silent_p.L218L|NETO1_uc002lky.1_Silent_p.L219L	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	219	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCATAGTCCAAGAATCGTAAG	0.338000												
ZNF236	7776	broad.mit.edu	37	18	74607115	74607115	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:74607115G>A	uc002lmi.2	+	10	1756	c.1558G>A	c.(1558-1560)GCC>ACC	p.A520T	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	520	C2H2-type 11.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCGCGCCTTCGCCGTGAAGAG	0.622000												
CD70	970	broad.mit.edu	37	19	6586225	6586225	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:6586225C>T	uc002mfi.2	-	3	538	c.388G>A	c.(388-390)GTG>ATG	p.V130M	CD70_uc010xjf.1_Missense_Mutation_p.V130M	NM_001252	NP_001243	P32970	CD70_HUMAN	tumor necrosis factor ligand superfamily, member	130	Extracellular (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding				0						CAGATTCCCACGGCCAGGGTG	0.637000												
MUC16	94025	broad.mit.edu	37	19	9087510	9087510	+	Silent	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:9087510A>C	uc002mkp.2	-	1	4509	c.4305T>G	c.(4303-4305)ACT>ACG	p.T1435T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1435	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						GGACATCAGAAGTTAGTTCCA	0.507000												
COL5A3	50509	broad.mit.edu	37	19	10081312	10081312	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:10081312G>T	uc002mmq.1	-	54	4008	c.3922C>A	c.(3922-3924)CCC>ACC	p.P1308T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1308	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TTgccggggggcccgggggcg	0.478000												
ZSWIM4	65249	broad.mit.edu	37	19	13919781	13919781	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:13919781C>T	uc002mxh.1	+	4	1033	c.844C>T	c.(844-846)CGC>TGC	p.R282C	ZSWIM4_uc010xng.1_Missense_Mutation_p.R88C	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	282							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCAGCAGCTGCGCTCCATGTT	0.597000												
UPF1	5976	broad.mit.edu	37	19	18965495	18965495	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:18965495G>A	uc002nkg.2	+	9	1550	c.1275G>A	c.(1273-1275)GTG>GTA	p.V425V	UPF1_uc002nkf.2_Silent_p.V414V	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	425					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TGGATTTTGTGTGGAAGTCGA	0.552000												
SF4	57794	broad.mit.edu	37	19	19391068	19391068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:19391068C>T	uc002nmh.2	-	9	1278	c.1276G>A	c.(1276-1278)GGG>AGG	p.G426R	SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.G216R|SF4_uc002nmj.2_Missense_Mutation_p.G216R|SF4_uc002nme.2_5'UTR	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	426					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						ACAGGCTTCCCCTTCTCATAG	0.607000												
TSHZ3	57616	broad.mit.edu	37	19	31769898	31769898	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:31769898C>T	uc002nsy.3	-	2	866	c.801G>A	c.(799-801)GGG>GGA	p.G267G		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	267					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CGTCTTCCTTCCCTTCCATTT	0.527000												
SERTAD1	29950	broad.mit.edu	37	19	40929446	40929446	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:40929446C>T	uc002ont.3	-	2	167	c.8G>A	c.(7-9)AGC>AAC	p.S3N		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	3					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGACCCTTGCTCAGCATCtg	0.333000												
PNMAL2	57469	broad.mit.edu	37	19	46997623	46997623	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:46997623T>C	uc002pes.2	-	1	1547	c.1100A>G	c.(1099-1101)GAC>GGC	p.D367G	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	367										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GTCTCGCTTGTCTTTCTCGTC	0.627000												
SYT3	84258	broad.mit.edu	37	19	51128454	51128454	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:51128454G>A	uc002pst.2	-	7	2306	c.1672C>T	c.(1672-1674)CGC>TGC	p.R558C	SYT3_uc002psv.2_Missense_Mutation_p.R558C|SYT3_uc010ycd.1_Missense_Mutation_p.R558C	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	558	Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		ACGGGCTTGCGGGGATTGGCC	0.682000												
ZNF765	91661	broad.mit.edu	37	19	53912160	53912160	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:53912160C>T	uc010ydx.1	+	6	1679	c.1352C>T	c.(1351-1353)TCA>TTA	p.S451L	ZNF765_uc002qbm.2_Missense_Mutation_p.S451L|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	451	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		AGTTTCAAATCAAACCTTGAA	0.383000												
LAIR1	3903	broad.mit.edu	37	19	54875910	54875910	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:54875910G>A	uc002qfk.1	-	2	372	c.62C>T	c.(61-63)ACG>ATG	p.T21M	LAIR1_uc002qfl.1_Missense_Mutation_p.T21M|LAIR1_uc002qfm.1_Missense_Mutation_p.T21M|LAIR1_uc002qfn.1_Missense_Mutation_p.T21M|LAIR1_uc010yex.1_Missense_Mutation_p.T15M|LAIR1_uc002qfo.2_Intron	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	21						integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACCCTCCTGCGTGTGGATGGT	0.597000												
NLRP7	199713	broad.mit.edu	37	19	55446019	55446019	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:55446019C>T	uc002qih.3	-	7	2385	c.2309G>A	c.(2308-2310)GGT>GAT	p.G770D	NLRP7_uc002qig.3_Missense_Mutation_p.G742D|NLRP7_uc002qii.3_Missense_Mutation_p.G770D|NLRP7_uc010esk.2_Missense_Mutation_p.G770D|NLRP7_uc010esl.2_Missense_Mutation_p.G798D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	770	LRR 3.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GGCACAGTGACCTCCCAACCT	0.438000												
C2orf71	388939	broad.mit.edu	37	2	29296154	29296154	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:29296154A>T	uc002rmt.1	-	1	974	c.974T>A	c.(973-975)CTG>CAG	p.L325Q		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	325					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TAGCTGCCTCAGAGCCCTCAG	0.577000												
SIX2	10736	broad.mit.edu	37	2	45235916	45235916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:45235916G>A	uc002ruo.2	-	1	627	c.334C>T	c.(334-336)CGC>TGC	p.R112C	SIX2_uc002rup.2_Missense_Mutation_p.R112C	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	112						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATTTGCGGCGCACGCGGTAT	0.657000												
TSPYL6	388951	broad.mit.edu	37	2	54483006	54483006	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:54483006C>T	uc002rxr.2	-	1	404	c.283G>A	c.(283-285)GCG>ACG	p.A95T	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	95					nucleosome assembly	nucleus					0						AGGCCCTCCGCGGGTGGTGGA	0.617000												
FAM176A	84141	broad.mit.edu	37	2	75720569	75720569	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:75720569G>A	uc002sni.2	-	4	730	c.252C>T	c.(250-252)AGC>AGT	p.S84S	FAM176A_uc002snj.1_Silent_p.S71S|FAM176A_uc002snk.1_Silent_p.S84S	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	84					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0						TGCCATCCTCGCTGTCGCTGC	0.597000												
ATOH8	84913	broad.mit.edu	37	2	85981597	85981598	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:85981597_85981598GC>AA	uc002sqn.2	+	1	689_690	c.285_286GC>AA	c.(283-288)GAGCGC>GAAAGC	p.R96S	ATOH8_uc002sqm.3_Missense_Mutation_p.R96S	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	atonal homolog 8	96	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CAGCCGGGGAGCGCGGGGGCTC	0.772000												
SLC5A7	60482	broad.mit.edu	37	2	108618467	108618467	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:108618467T>C	uc002tdv.2	+	6	988	c.712T>C	c.(712-714)TAC>CAC	p.Y238H	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.Y238H|SLC5A7_uc010ywn.1_Missense_Mutation_p.Y125H	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	238	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	ATCTGAAGTCTACTCTTGGCT	0.413000												
CNTNAP5	129684	broad.mit.edu	37	2	125530594	125530594	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:125530594G>T	uc002tno.2	+	17	3113	c.2749G>T	c.(2749-2751)GGG>TGG	p.G917W	CNTNAP5_uc010flu.2_Missense_Mutation_p.G918W	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	917	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTGTTTGTAGGTAGGGGACA	0.502000												
R3HDM1	23518	broad.mit.edu	37	2	136396502	136396502	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:136396502C>T	uc002tuo.2	+	14	1399	c.1029C>T	c.(1027-1029)AGC>AGT	p.S343S	R3HDM1_uc010fni.2_Silent_p.S341S|R3HDM1_uc002tup.2_Silent_p.S287S|R3HDM1_uc010zbh.1_Silent_p.S175S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	343							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTACAAATAGCCATCAAAGCA	0.398000												
THSD7B	80731	broad.mit.edu	37	2	137814207	137814207	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:137814207C>T	uc002tva.1	+	2	264	c.264C>T	c.(262-264)TAC>TAT	p.Y88Y	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Translation_Start_Site	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGTTCCTTACGCTCGCGGTG	0.552000												
LRP1B	53353	broad.mit.edu	37	2	141004684	141004684	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:141004684T>C	uc002tvj.1	-	87	14267	c.13295A>G	c.(13294-13296)AAG>AGG	p.K4432R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4432	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGCTGCTCTTTGGGGCTGG	0.383000										TSP Lung(27;0.18)		
SCN3A	6328	broad.mit.edu	37	2	166021016	166021016	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:166021016C>A	uc002ucx.2	-	6	980	c.488G>T	c.(487-489)GGA>GTA	p.G163V	SCN3A_uc002ucy.2_Missense_Mutation_p.G163V|SCN3A_uc002ucz.2_Missense_Mutation_p.G163V|SCN3A_uc002uda.1_Missense_Mutation_p.G32V|SCN3A_uc002udb.1_Missense_Mutation_p.G32V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	163	Helical; Name=S2 of repeat I; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GGTATAGATTCCAGTGAATGT	0.338000												
SCN2A	6326	broad.mit.edu	37	2	166229777	166229777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:166229777G>T	uc002udc.2	+	21	4182	c.3892G>T	c.(3892-3894)GAA>TAA	p.E1298*	SCN2A_uc002udd.2_Nonsense_Mutation_p.E1298*|SCN2A_uc002ude.2_Nonsense_Mutation_p.E1298*	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1298	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GGGTTACTCAGAACTTGGTGC	0.413000												
XIRP2	129446	broad.mit.edu	37	2	168101416	168101416	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:168101416G>C	uc002udx.2	+	8	3532	c.3514G>C	c.(3514-3516)GAA>CAA	p.E1172Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E997Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E950Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	997	Xin 18.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTTTGAGACAGAAAATTTGGA	0.388000												
DLX2	1746	broad.mit.edu	37	2	172965545	172965545	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:172965545G>A	uc002uhn.2	-	3	925	c.713C>T	c.(712-714)CCG>CTG	p.P238L		NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCAGGAGGCCGGCGCTGAGAC	0.692000												
HOXD12	3238	broad.mit.edu	37	2	176965305	176965305	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:176965305G>A	uc010zev.1	+	2	630	c.630G>A	c.(628-630)ACG>ACA	p.T210T	HOXD12_uc010zew.1_Missense_Mutation_p.E220K	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	210	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AACCCTACACGAAGCAGCAGA	0.597000												
TTN	7273	broad.mit.edu	37	2	179445168	179445168	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:179445168G>C	uc010zfg.1	-	266	59458	c.59234C>G	c.(59233-59235)ACT>AGT	p.T19745S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13440S|TTN_uc010zfi.1_Missense_Mutation_p.T13373S|TTN_uc010zfj.1_Missense_Mutation_p.T13248S|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20672							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)			GTCAAAGTCAGTTGACTTTAT	0.388000												
TTN	7273	broad.mit.edu	37	2	179499302	179499302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:179499302C>T	uc010zfg.1	-	179	34726	c.34502G>A	c.(34501-34503)CGA>CAA	p.R11501Q	TTN_uc010zfh.1_Missense_Mutation_p.R5196Q|TTN_uc010zfi.1_Missense_Mutation_p.R5129Q|TTN_uc010zfj.1_Missense_Mutation_p.R5004Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12428							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)			TCGAGCCTGTCGCCTTTCTGG	0.428000												
TTN	7273	broad.mit.edu	37	2	179616598	179616598	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:179616598A>C	uc002unb.2	-	46	10753	c.10529T>G	c.(10528-10530)CTT>CGT	p.L3510R	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAAATGTAAGTTTCTGGGT	0.378000												
TNS1	7145	broad.mit.edu	37	2	218712303	218712303	+	Silent	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:218712303A>C	uc002vgt.2	-	17	2960	c.2562T>G	c.(2560-2562)ACT>ACG	p.T854T	TNS1_uc002vgr.2_Silent_p.T854T|TNS1_uc002vgs.2_Silent_p.T854T|TNS1_uc010zjv.1_Silent_p.T854T|TNS1_uc010fvj.1_Silent_p.T922T|TNS1_uc010fvk.1_Silent_p.T979T|TNS1_uc010fvi.1_Silent_p.T541T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	854						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGGTCTGAAGTCGCTTCCT	0.597000												
PLCD4	84812	broad.mit.edu	37	2	219501217	219501217	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:219501217T>G	uc002vij.1	+	16	2401	c.2206T>G	c.(2206-2208)TCC>GCC	p.S736A		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	736					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCACCTGCTGTCCAAAGATGG	0.592000												
CCDC108	255101	broad.mit.edu	37	2	219892515	219892515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:219892515G>A	uc002vjl.1	-	13	2152	c.2068C>T	c.(2068-2070)CGA>TGA	p.R690*	CCDC108_uc010fwa.1_Nonsense_Mutation_p.R133*|CCDC108_uc010zkp.1_Nonsense_Mutation_p.R679*|CCDC108_uc010zkq.1_Nonsense_Mutation_p.R625*	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	690						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGACCTTCGCGTCCAGACC	0.637000												
OBSL1	23363	broad.mit.edu	37	2	220431630	220431630	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:220431630C>T	uc010fwk.2	-	5	2113	c.2056G>A	c.(2056-2058)GTC>ATC	p.V686I	OBSL1_uc010fwl.1_Missense_Mutation_p.V161I|OBSL1_uc002vmi.2_Missense_Mutation_p.V686I|OBSL1_uc002vmj.2_Missense_Mutation_p.V273I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	686					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGGTGCTTGACGGCATGCAGG	0.632000												
CHRNG	1146	broad.mit.edu	37	2	233407734	233407734	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:233407734C>T	uc002vsx.1	+	7	768	c.747C>T	c.(745-747)ATC>ATT	p.I249I	CHRNG_uc010fye.1_Silent_p.I197I	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	249	Helical; (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TCAACATCATCGCCCCCTGTG	0.602000												
DNAJB3	414061	broad.mit.edu	37	2	234652296	234652296	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:234652296G>A	uc002vuz.2	-	1	366	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	89					protein folding		heat shock protein binding|unfolded protein binding				0						AGCTGAAGACGTACTCGAAGG	0.617000												
HJURP	55355	broad.mit.edu	37	2	234750289	234750289	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:234750289C>T	uc002vvg.2	-	8	1203	c.1137G>A	c.(1135-1137)GTG>GTA	p.V379V	HJURP_uc010znd.1_Silent_p.V318V|HJURP_uc010zne.1_Silent_p.V287V	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	379					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCGAGGGTGTCACTTTGCGCT	0.368000												
FASTKD5	60493	broad.mit.edu	37	20	3127667	3127667	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:3127667G>A	uc002whz.2	-	2	2361	c.2050C>T	c.(2050-2052)CTG>TTG	p.L684L	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	684					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						GCGGGGCACAGGCCAGCCATC	0.552000												
C20orf194	25943	broad.mit.edu	37	20	3236670	3236670	+	Silent	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:3236670C>A	uc002wii.2	-	34	3294	c.3243G>T	c.(3241-3243)CTG>CTT	p.L1081L	C20orf194_uc002wij.3_Silent_p.L820L|C20orf194_uc002wik.2_Silent_p.L755L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	1081											0						CTGACTGCCGCAGCCAGTCCT	0.577000												
ASXL1	171023	broad.mit.edu	37	20	31023525	31023525	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:31023525G>A	uc002wxs.2	+	12	3436	c.3010G>A	c.(3010-3012)GAC>AAC	p.D1004N	ASXL1_uc010geb.2_Missense_Mutation_p.D895N	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1004					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T1001fs*4(1)		haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TACAGCCTCTGACTTTGAAGG	0.502000			F|N|Mis		MDS|CMML							
MMP24	10893	broad.mit.edu	37	20	33862271	33862271	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:33862271C>T	uc002xbu.2	+	9	1800	c.1797C>T	c.(1795-1797)TCC>TCT	p.S599S	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	599	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGCCGGGCTCCGTGAACGCCG	0.627000												
FAM83D	81610	broad.mit.edu	37	20	37581072	37581072	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:37581072C>T	uc002xjg.2	+	4	1798	c.1757C>T	c.(1756-1758)ACT>ATT	p.T586I		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	556					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				ACACTCTTTACTGAAAACCAC	0.453000												
SALL4	57167	broad.mit.edu	37	20	50407967	50407967	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:50407967G>A	uc002xwh.3	-	2	1156	c.1055C>T	c.(1054-1056)GCG>GTG	p.A352V	SALL4_uc010gii.2_Missense_Mutation_p.A352V|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	352					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGTGTCTAGCGCCACAGTGGA	0.617000												
MC3R	4159	broad.mit.edu	37	20	54824543	54824543	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:54824543G>A	uc002xxb.2	+	1	756	c.644G>A	c.(643-645)CGG>CAG	p.R215Q		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	252	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			CTCTTTGCGCGGCTGCACGTC	0.572000												
ZNF831	128611	broad.mit.edu	37	20	57766724	57766724	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:57766724G>A	uc002yan.2	+	1	650	c.650G>A	c.(649-651)GGG>GAG	p.G217E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	217						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTGGAGGAAGGGGACAAGGCC	0.687000												
ARFGAP1	55738	broad.mit.edu	37	20	61919114	61919114	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr20:61919114C>T	uc002yem.2	+	13	1222	c.1110C>T	c.(1108-1110)GCC>GCT	p.A370A	ARFGAP1_uc011aas.1_Silent_p.A325A|ARFGAP1_uc011aat.1_Silent_p.A257A|ARFGAP1_uc002yel.2_Silent_p.A378A|ARFGAP1_uc002yen.2_3'UTR|ARFGAP1_uc002yeo.1_RNA	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	370					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					GGGGCTCGGCCTCCACCAACA	0.692000												
MCM3AP	8888	broad.mit.edu	37	21	47685984	47685984	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr21:47685984G>A	uc002zir.1	-	11	2922	c.2886C>T	c.(2884-2886)GTC>GTT	p.V962V	MCM3AP_uc002ziq.1_5'UTR	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	962					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CAATTTCCCCGACTGACACCG	0.562000												
SCARF2	91179	broad.mit.edu	37	22	20785156	20785156	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:20785156G>A	uc002zsj.1	-	5	999	c.894C>T	c.(892-894)GCC>GCT	p.A298A	SCARF2_uc002zsk.1_Silent_p.A298A	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	298	Extracellular (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGGCCCTCGGCCACCGTGC	0.706000												
MYH9	4627	broad.mit.edu	37	22	36684873	36684873	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:36684873C>T	uc003apg.2	-	33	4901	c.4670G>A	c.(4669-4671)CGG>CAG	p.R1557Q		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1557	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GACCTCCAACCGCAGCTTGGC	0.627000			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
CYTH4	27128	broad.mit.edu	37	22	37695268	37695268	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:37695268G>A	uc003arf.2	+	6	471	c.355G>A	c.(355-357)GAT>AAT	p.D119N	CYTH4_uc003are.2_Missense_Mutation_p.D119N|CYTH4_uc011amw.1_Missense_Mutation_p.D62N|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	119	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTCCCCCAGGGATCCCATCAA	0.647000												
ATXN10	25814	broad.mit.edu	37	22	46125340	46125340	+	Missense_Mutation	SNP	C	C	T	rs149859910	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:46125340C>T	uc003bgm.1	+	7	1021	c.764C>T	c.(763-765)ACG>ATG	p.T255M	ATXN10_uc011aqt.1_Missense_Mutation_p.T191M|ATXN10_uc003bgn.1_Missense_Mutation_p.T66M	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	255					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GCCAAGATAACGAGTGATGAG	0.393000												
BRPF1	7862	broad.mit.edu	37	3	9780998	9780998	+	Silent	SNP	C	C	T	rs146224207		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:9780998C>T	uc003bse.2	+	3	1314	c.915C>T	c.(913-915)TAC>TAT	p.Y305Y	BRPF1_uc003bsf.2_Silent_p.Y305Y|BRPF1_uc003bsg.2_Silent_p.Y305Y|BRPF1_uc011ati.1_Silent_p.Y305Y	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	305	PHD-type.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					AGGAGTGCTACGGTGTCCCCT	0.582000												
OGG1	4968	broad.mit.edu	37	3	9796425	9796425	+	Silent	SNP	G	G	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:9796425G>C	uc003bsi.2	+	4	946	c.603G>C	c.(601-603)CTG>CTC	p.L201L	OGG1_uc003bsh.2_Silent_p.L201L|OGG1_uc003bsj.2_Silent_p.L201L|OGG1_uc003bsk.2_Silent_p.L201L|OGG1_uc003bsl.2_Silent_p.L201L|OGG1_uc003bsm.2_Silent_p.L201L|OGG1_uc003bsn.2_Silent_p.L201L|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Intron|OGG1_uc010hcm.1_Silent_p.L44L|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Intron	NM_002542	NP_002533	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 1a	201					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)					AGCTGGGCCTGGGCTATCGTG	0.607000								BER_DNA_glycosylases				
OXNAD1	92106	broad.mit.edu	37	3	16344253	16344253	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:16344253C>T	uc003caw.2	+	8	1239	c.782C>T	c.(781-783)ACG>ATG	p.T261M	OXNAD1_uc003cax.2_Missense_Mutation_p.T261M|OXNAD1_uc011awb.1_Missense_Mutation_p.T279M	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	261							oxidoreductase activity			skin(1)	1						CCATACATCACGGGTGAGTCC	0.408000												
ARPP21	10777	broad.mit.edu	37	3	35750490	35750490	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:35750490C>A	uc003cgb.2	+	11	1089	c.825C>A	c.(823-825)GAC>GAA	p.D275E	ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cgf.2_Intron	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	275						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						TTAGAGATGACAGACGAAGTA	0.378000												
STAC	6769	broad.mit.edu	37	3	36524582	36524582	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:36524582C>A	uc003cgh.1	+	3	526	c.487C>A	c.(487-489)CTG>ATG	p.L163M	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Intron	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	163					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						CATGGGCAAGCTGGTAAGGGC	0.572000												
CSPG5	10675	broad.mit.edu	37	3	47610710	47610710	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:47610710G>A	uc003crp.3	-	4	1566	c.1390C>T	c.(1390-1392)CGG>TGG	p.R464W	CSPG5_uc003crn.2_Missense_Mutation_p.R326W|CSPG5_uc003cro.3_Missense_Mutation_p.R464W|CSPG5_uc011bbb.1_Missense_Mutation_p.R326W	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	464	Cytoplasmic (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GATGGGGTCCGGAATTTGCTG	0.453000												
IQCF2	389123	broad.mit.edu	37	3	51897243	51897243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:51897243C>T	uc003dbt.1	+	3	390	c.352C>T	c.(352-354)CGA>TGA	p.R118*	IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	118	IQ 2.										0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGTCCGCTGGCGATACTGCCA	0.592000												
SNTN	132203	broad.mit.edu	37	3	63638415	63638415	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:63638415G>A	uc003dlr.2	+	1	72	c.52G>A	c.(52-54)GAT>AAT	p.D18N		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	18						cilium	calcium ion binding			ovary(1)	1						CTTGGAAGGAGATCCCAATCC	0.478000												
C3orf30	152405	broad.mit.edu	37	3	118865449	118865449	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:118865449C>T	uc003ecb.1	+	1	453	c.413C>T	c.(412-414)ACG>ATG	p.T138M	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.T138M	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	138										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		TCTGGCCTGACGGAGGAAAGA	0.478000												
ASTE1	28990	broad.mit.edu	37	3	130733117	130733117	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:130733117G>A	uc003env.1	-	6	2266	c.1824C>T	c.(1822-1824)TTC>TTT	p.F608F	ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ASTE1_uc010htm.1_Silent_p.F633F|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	608					DNA repair		nuclease activity				0						TTGTGGCATTGAATAGATATT	0.428000												
EPHB1	2047	broad.mit.edu	37	3	134670497	134670497	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:134670497A>C	uc003eqt.2	+	3	628	c.408A>C	c.(406-408)AAA>AAC	p.K136N	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.K136N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	136	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CCTACCTCAAAGTAGACACCA	0.507000												
EPHB1	2047	broad.mit.edu	37	3	134851755	134851755	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:134851755G>A	uc003eqt.2	+	5	1381	c.1161G>A	c.(1159-1161)ACG>ACA	p.T387T	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	387	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.T387M(2)|p.T387T(2)		lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TGGGCCTGACGGAGTGCCGCG	0.612000												
ZBTB38	253461	broad.mit.edu	37	3	141162920	141162920	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:141162920A>G	uc003etw.2	+	8	2672	c.1690A>G	c.(1690-1692)AAA>GAA	p.K564E	ZBTB38_uc010hun.2_Missense_Mutation_p.K561E|ZBTB38_uc010huo.2_Missense_Mutation_p.K564E|ZBTB38_uc003ety.2_Missense_Mutation_p.K564E|ZBTB38_uc010hup.2_Missense_Mutation_p.K565E	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	564					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CTATCCGTATAAACTTTATAG	0.383000												
ZIC1	7545	broad.mit.edu	37	3	147128475	147128475	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:147128475G>A	uc003ewe.2	+	1	1295	c.576G>A	c.(574-576)CCG>CCA	p.P192P		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	192					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ATGCTGCGCCGCAGCTGCACG	0.657000												
ZBBX	79740	broad.mit.edu	37	3	167039951	167039951	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:167039951C>A	uc003fep.2	-	12	1260	c.937G>T	c.(937-939)GAC>TAC	p.D313Y	ZBBX_uc011bpc.1_Missense_Mutation_p.D313Y|ZBBX_uc003feq.2_Missense_Mutation_p.D284Y	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	313						intracellular	zinc ion binding			ovary(2)	2						GATAGAATGTCTTCTTTAAGT	0.279000												
TNK2	10188	broad.mit.edu	37	3	195595338	195595338	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr3:195595338C>T	uc003fvu.1	-	12	2329	c.1786G>A	c.(1786-1788)GCC>ACC	p.A596T	TNK2_uc003fvq.1_Missense_Mutation_p.A3T|TNK2_uc003fvr.1_Missense_Mutation_p.A121T|TNK2_uc003fvs.1_Missense_Mutation_p.A628T|TNK2_uc003fvt.1_Missense_Mutation_p.A674T|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	596	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGGAGCAGGCGTCCATGGCC	0.746000												
SLC26A1	10861	broad.mit.edu	37	4	984120	984120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr4:984120C>T	uc003gcb.2	-	4	985	c.607G>A	c.(607-609)GTG>ATG	p.V203M	SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.V203M	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	203						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TAGGCGGACACGAAGCCCAGC	0.677000												
FAM193A	8603	broad.mit.edu	37	4	2701991	2701991	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr4:2701991G>A	uc010icl.2	+	17	3570	c.3219G>A	c.(3217-3219)CAG>CAA	p.Q1073Q	FAM193A_uc010ick.2_Silent_p.Q1273Q|FAM193A_uc003gfd.2_Silent_p.Q1073Q|FAM193A_uc011bvm.1_Silent_p.Q1095Q|FAM193A_uc011bvn.1_Silent_p.Q1073Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.Q927Q	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	1073										ovary(3)	3						CAGAGGGGCAGTCCAAGCCCC	0.562000												
UGT2B15	7366	broad.mit.edu	37	4	69519913	69519913	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr4:69519913G>A	uc011cal.1	-	5	1193	c.1155C>T	c.(1153-1155)ATC>ATT	p.I385I		NM_001076	NP_001067	P54855	UDB15_HUMAN	UDP glycosyltransferase 2B15 precursor	385					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0						TCCCATGGTAGATCGCCTCAT	0.423000												
GRID2	2895	broad.mit.edu	37	4	93225895	93225895	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr4:93225895G>A	uc011cdt.1	+	1	346	c.88G>A	c.(88-90)GGA>AGA	p.G30R	GRID2_uc010ikx.2_Missense_Mutation_p.G30R|GRID2_uc011cdu.1_Missense_Mutation_p.G30R	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	30	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CATTCACATCGGTAAGAAAGT	0.502000												
IRX1	79192	broad.mit.edu	37	5	3599879	3599879	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:3599879G>A	uc003jde.2	+	2	869	c.817G>A	c.(817-819)GAC>AAC	p.D273N		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGCAGCAGCCGACGTTCTCAA	0.726000												
CTNND2	1501	broad.mit.edu	37	5	11022914	11022914	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:11022914T>G	uc003jfa.1	-	17	3111	c.2966A>C	c.(2965-2967)AAG>ACG	p.K989T	CTNND2_uc010itt.2_Missense_Mutation_p.K898T|CTNND2_uc011cmy.1_Missense_Mutation_p.K652T|CTNND2_uc011cmz.1_Missense_Mutation_p.K556T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.K581T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	989	ARM 9.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GCCGACCAACTTCTCGATGCC	0.498000												
TRIO	7204	broad.mit.edu	37	5	14492826	14492826	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:14492826G>A	uc003jff.2	+	49	7789	c.7783G>A	c.(7783-7785)GCC>ACC	p.A2595T	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2595	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GTTCCGAGCCGCCACTGACCA	0.572000												
ADAMTS12	81792	broad.mit.edu	37	5	33576376	33576376	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:33576376C>T	uc003jia.1	-	19	3918	c.3755G>A	c.(3754-3756)GGA>GAA	p.G1252E	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1167E	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1252	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GTGGTCTCCTCCCAGAGGGAG	0.532000										HNSCC(64;0.19)		
IL6ST	3572	broad.mit.edu	37	5	55238562	55238562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:55238562C>T	uc003jqq.2	-	16	2210	c.1955G>A	c.(1954-1956)TGG>TAG	p.W652*	IL6ST_uc010iwb.2_Nonsense_Mutation_p.W591*|IL6ST_uc010iwc.2_Missense_Mutation_p.G165S|IL6ST_uc010iwd.2_5'UTR|IL6ST_uc011cqk.1_Nonsense_Mutation_p.W363*|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	652	Cytoplasmic (Potential).|Box 1 motif.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AACATTAGGCCAGATGTGTTT	0.348000			O		hepatocellular ca							
FER	2241	broad.mit.edu	37	5	108436218	108436218	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:108436218C>G	uc003kop.1	+	17	2430	c.2046C>G	c.(2044-2046)CAC>CAG	p.H682Q	FER_uc011cvg.1_Missense_Mutation_p.H507Q	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	682	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ACTGTATACACAGGTAAGGAG	0.323000												
KDM3B	51780	broad.mit.edu	37	5	137727090	137727090	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr5:137727090A>C	uc003lcy.1	+	8	1969	c.1769A>C	c.(1768-1770)GAC>GCC	p.D590A	KDM3B_uc010jew.1_Missense_Mutation_p.D246A|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	590					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						AGCTCTGTGGACCGGAAAGTG	0.527000												
BAT2	7916	broad.mit.edu	37	6	31600501	31600501	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:31600501G>A	uc003nvb.3	+	16	4300	c.4051G>A	c.(4051-4053)GTG>ATG	p.V1351M	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.V1351M	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1351	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						ACCCAAGGCTGTGGGAACTCC	0.582000												
C6orf25	80739	broad.mit.edu	37	6	31692809	31692809	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:31692809G>A	uc011doc.1	+	6	684	c.684G>A	c.(682-684)GCG>GCA	p.A228A	C6orf25_uc003nwk.2_Missense_Mutation_p.G235R|C6orf25_uc011dod.1_Silent_p.A184A|C6orf25_uc011doe.1_Silent_p.A204A|C6orf25_uc003nwo.2_Missense_Mutation_p.G191R|C6orf25_uc003nwn.2_3'UTR	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	228	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						TGTCCACAGCGGACCCTGCTG	0.587000												
CPNE5	57699	broad.mit.edu	37	6	36710164	36710164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:36710164C>T	uc003omr.1	-	21	1730	c.1663G>A	c.(1663-1665)GTG>ATG	p.V555M	CPNE5_uc003omp.1_Missense_Mutation_p.V263M|CPNE5_uc010jwn.1_Missense_Mutation_p.V205M|CPNE5_uc003omq.1_Missense_Mutation_p.V205M	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	555										skin(1)	1						ATGTAGGACACCAGTTGGTCA	0.682000												
APOBEC2	10930	broad.mit.edu	37	6	41029224	41029224	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:41029224G>T	uc003opl.2	+	2	436	c.289G>T	c.(289-291)GCC>TCC	p.A97S	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	97					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCATGCGGCTGCCCATGCAGA	0.592000												
EYS	346007	broad.mit.edu	37	6	66094316	66094316	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:66094316T>C	uc011dxu.1	-	8	1800	c.1262A>G	c.(1261-1263)AAT>AGT	p.N421S	EYS_uc003peq.2_Missense_Mutation_p.N421S|EYS_uc003per.1_Missense_Mutation_p.N421S	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	421					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						CCATTCTTCATTCAGACAGTT	0.323000												
VNN2	8875	broad.mit.edu	37	6	133070863	133070863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:133070863C>T	uc003qdt.2	-	6	1353	c.1342G>A	c.(1342-1344)GAA>AAA	p.E448K	VNN2_uc003qds.2_Missense_Mutation_p.E157K|VNN2_uc010kgb.2_Missense_Mutation_p.E227K|VNN2_uc003qdv.2_Missense_Mutation_p.E395K	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	448					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGATGAATTTCGGTAAGTAGC	0.373000												
PHACTR2	9749	broad.mit.edu	37	6	144086875	144086875	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:144086875C>T	uc003qjq.3	+	6	1269	c.1139C>T	c.(1138-1140)ACG>ATG	p.T380M	PHACTR2_uc010khh.2_Missense_Mutation_p.T300M|PHACTR2_uc010khi.2_Missense_Mutation_p.T391M|PHACTR2_uc003qjr.3_Missense_Mutation_p.T311M	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	380							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GAAGAGCCGACGAACAGAACC	0.493000												
MAS1	4142	broad.mit.edu	37	6	160328940	160328940	+	Missense_Mutation	SNP	C	C	T	rs148082809	by1000genomes	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr6:160328940C>T	uc003qsz.2	+	1	967	c.953C>T	c.(952-954)ACG>ATG	p.T318M		NM_002377	NP_002368	P04201	MAS_HUMAN	MAS1 oncogene	318	Cytoplasmic (Potential).				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			ovary(2)|lung(2)	4		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		AATTGTAATACGGTCACAGTT	0.408000												
ZNF12	7559	broad.mit.edu	37	7	6731413	6731413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:6731413C>T	uc003sqt.1	-	5	1714	c.1160G>A	c.(1159-1161)GGG>GAG	p.G387E	ZNF12_uc011jxa.1_Missense_Mutation_p.G225E|ZNF12_uc003sqs.1_Missense_Mutation_p.G349E	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	387	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAAGGTTTTCCCACAGTCATG	0.428000												
THSD7A	221981	broad.mit.edu	37	7	11675950	11675950	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:11675950G>A	uc003ssf.3	-	2	1081	c.829C>T	c.(829-831)CGC>TGC	p.R277C		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	277	Extracellular (Potential).|Potential.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCTTCCCGCGTCTCCTTGCT	0.537000										HNSCC(18;0.044)		
OSBPL3	26031	broad.mit.edu	37	7	24892163	24892163	+	Missense_Mutation	SNP	G	G	C	rs149871533		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:24892163G>C	uc003sxf.2	-	11	1523	c.1118C>G	c.(1117-1119)CCG>CGG	p.P373R	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P373R|OSBPL3_uc003sxh.2_Missense_Mutation_p.P342R|OSBPL3_uc003sxi.2_Missense_Mutation_p.P342R|OSBPL3_uc003sxj.1_Missense_Mutation_p.P138R|OSBPL3_uc003sxk.1_Missense_Mutation_p.P107R	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	373					lipid transport		lipid binding|protein binding			skin(1)	1						CTGAGCAGACGGGGAGGAGGA	0.483000												
HOXA3	3200	broad.mit.edu	37	7	27147987	27147987	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:27147987C>T	uc011jzl.1	-	3	1079	c.879G>A	c.(877-879)TCG>TCA	p.S293S	HOXA3_uc011jzk.1_Silent_p.S135S|HOXA3_uc003syk.2_Silent_p.S293S	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	293					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						AGGGCGGGGGCGACTGGGGCT	0.706000												
CDK13	8621	broad.mit.edu	37	7	40134196	40134196	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:40134196C>G	uc003thh.3	+	14	4438	c.4156C>G	c.(4156-4158)CAT>GAT	p.H1386D	CDK13_uc003thi.3_Missense_Mutation_p.H1326D|CDK13_uc003thj.2_Missense_Mutation_p.H437D|CDK13_uc003thk.2_Missense_Mutation_p.H319D	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1386					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						TGCTTCATCTCATTCTGGTGG	0.443000												
CACNA2D1	781	broad.mit.edu	37	7	82072713	82072713	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:82072713G>A	uc003uhr.1	-	1	319	c.63C>T	c.(61-63)CCC>CCT	p.P21P		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	21						voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCTCCGACGAGGGGCCGATGA	0.483000												
ZNF804B	219578	broad.mit.edu	37	7	88962859	88962859	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:88962859G>A	uc011khi.1	+	4	1101	c.563G>A	c.(562-564)CGA>CAA	p.R188Q		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	188						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATGCCAAATCGACACCAATTA	0.413000										HNSCC(36;0.09)		
PIK3CG	5294	broad.mit.edu	37	7	106509085	106509085	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:106509085A>G	uc003vdv.3	+	2	1164	c.1079A>G	c.(1078-1080)AAG>AGG	p.K360R	PIK3CG_uc003vdu.2_Missense_Mutation_p.K360R|PIK3CG_uc003vdw.2_Missense_Mutation_p.K360R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	360					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TGCGACCGCAAGTTCAGGGTC	0.562000												
LAMB1	3912	broad.mit.edu	37	7	107626654	107626654	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:107626654C>G	uc003vew.2	-	6	913	c.578G>C	c.(577-579)CGA>CCA	p.R193P	LAMB1_uc003vev.2_Missense_Mutation_p.R217P|LAMB1_uc003vex.2_Missense_Mutation_p.R193P|LAMB1_uc010ljn.1_Missense_Mutation_p.R279P	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	193	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCAGAATATCGAGAATCACA	0.403000												
KCND2	3751	broad.mit.edu	37	7	119915591	119915591	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:119915591A>C	uc003vjj.1	+	1	1870	c.905A>C	c.(904-906)AAG>ACG	p.K302T		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	302	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					AGGATCTTTAAGTTTTCCCGC	0.527000												
DGKI	9162	broad.mit.edu	37	7	137080436	137080436	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:137080436T>G	uc003vtt.2	-	33	2990	c.2989A>C	c.(2989-2991)ACT>CCT	p.T997P	DGKI_uc003vtu.2_Missense_Mutation_p.T666P	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	997	ANK 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						TGCAGTGCAGTCTCACCCCTA	0.567000												
KIAA1549	57670	broad.mit.edu	37	7	138602357	138602357	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:138602357A>G	uc011kql.1	-	2	2064	c.2015T>C	c.(2014-2016)TTG>TCG	p.L672S	KIAA1549_uc003vuk.3_Missense_Mutation_p.L622S|KIAA1549_uc011kqj.1_Missense_Mutation_p.L672S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	672	Ser-rich.					integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AGAGTCAAACAATGTAAATGT	0.488000			O	BRAF	pilocytic astrocytoma							
UBN2	254048	broad.mit.edu	37	7	138943256	138943256	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:138943256C>T	uc011kqr.1	+	4	686	c.686C>T	c.(685-687)TCT>TTT	p.S229F	UBN2_uc003vuv.2_5'UTR	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	229										ovary(1)|skin(1)	2						GTTCCCGCTTCTCTAACAACA	0.343000												
CSMD1	64478	broad.mit.edu	37	8	3087591	3087591	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:3087591A>C	uc011kwk.1	-	27	4709	c.4319T>G	c.(4318-4320)TTT>TGT	p.F1440C	CSMD1_uc011kwj.1_Missense_Mutation_p.F832C|CSMD1_uc003wqe.2_Missense_Mutation_p.F596C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1440	Extracellular (Potential).|Sushi 8.					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)		TGGTTGCCAAAAGAACCGGTT	0.468000												
RP1L1	94137	broad.mit.edu	37	8	10469206	10469206	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:10469206T>C	uc003wtc.2	-	4	2631	c.2402A>G	c.(2401-2403)CAG>CGG	p.Q801R		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	801					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TGAGGAGGGCTGAGGCGTGTC	0.682000												
PHYHIP	9796	broad.mit.edu	37	8	22079330	22079330	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:22079330C>T	uc003xbk.3	-	6	1223	c.529G>A	c.(529-531)GGT>AGT	p.G177S	PHYHIP_uc003xbj.3_Missense_Mutation_p.G177S	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	177											0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGGAGCATACCGCTGGTGGGG	0.657000												
NEFM	4741	broad.mit.edu	37	8	24772194	24772194	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:24772194C>T	uc003xed.3	+	1	921	c.888C>T	c.(886-888)TAC>TAT	p.Y296Y	NEFM_uc011lac.1_Silent_p.Y296Y|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	296	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AATGCCGCTACGCCAAGCTCA	0.607000												
NEFM	4741	broad.mit.edu	37	8	24772258	24772258	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:24772258G>A	uc003xed.3	+	1	985	c.952G>A	c.(952-954)GCC>ACC	p.A318T	NEFM_uc011lac.1_Missense_Mutation_p.A318T|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	318	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGAAGAGATCGCCGAGTACCG	0.642000												
OPRK1	4986	broad.mit.edu	37	8	54142060	54142060	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:54142060A>C	uc003xrh.1	-	3	1315	c.940T>G	c.(940-942)TTC>GTC	p.F314V	OPRK1_uc003xri.1_Missense_Mutation_p.F314V|OPRK1_uc010lyc.1_Missense_Mutation_p.F225V	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	314	Helical; Name=7; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GCGATGCAGAAGTAATAGCTG	0.522000												
OPRK1	4986	broad.mit.edu	37	8	54142218	54142218	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:54142218C>A	uc003xrh.1	-	3	1157	c.782G>T	c.(781-783)GGC>GTC	p.G261V	OPRK1_uc003xri.1_Missense_Mutation_p.G261V|OPRK1_uc010lyc.1_Missense_Mutation_p.G172V	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	261	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CTCTCGGGAGCCAGAAAGGAG	0.542000												
PREX2	80243	broad.mit.edu	37	8	68968087	68968087	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:68968087A>C	uc003xxv.1	+	10	1143	c.1116A>C	c.(1114-1116)CAA>CAC	p.Q372H	PREX2_uc003xxu.1_Missense_Mutation_p.Q372H|PREX2_uc011lez.1_Missense_Mutation_p.Q307H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	372					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						GAATGGAGCAAGATACCTGGG	0.338000												
TRPA1	8989	broad.mit.edu	37	8	72946496	72946496	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:72946496A>G	uc003xza.2	-	22	2847	c.2672T>C	c.(2671-2673)CTC>CCC	p.L891P	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	891	Helical; Name=5; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TAAATTCAGGAGGATGTAAAA	0.299000												
PGCP	10404	broad.mit.edu	37	8	97797433	97797433	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:97797433T>G	uc003yhw.2	+	2	474	c.308T>G	c.(307-309)GTT>GGT	p.V103G	PGCP_uc010mbe.2_Missense_Mutation_p.V103G	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	103					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					CTGGAGAAAGTTCACCTGGAG	0.498000												
RIMS2	9699	broad.mit.edu	37	8	104898096	104898096	+	Silent	SNP	T	T	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:104898096T>A	uc003yls.2	+	2	844	c.603T>A	c.(601-603)TCT>TCA	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478000										HNSCC(12;0.0054)		
CSMD3	114788	broad.mit.edu	37	8	113569030	113569030	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:113569030T>A	uc003ynu.2	-	25	4355	c.4196A>T	c.(4195-4197)GAG>GTG	p.E1399V	CSMD3_uc003yns.2_Missense_Mutation_p.E671V|CSMD3_uc003ynt.2_Missense_Mutation_p.E1359V|CSMD3_uc011lhx.1_Missense_Mutation_p.E1295V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1399	Extracellular (Potential).|Sushi 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGCCCTTCTCTCCCCTGTCAT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
PSCA	8000	broad.mit.edu	37	8	143763429	143763429	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:143763429T>G	uc003ywu.2	+	3	306	c.251T>G	c.(250-252)ATC>AGC	p.I84S	uc003ywt.1_5'Flank	NM_005672	NP_005663	O43653	PSCA_HUMAN	prostate stem cell antigen preproprotein	75											0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AAGAAGAACATCACGTGCTGT	0.627000												
ZNF517	340385	broad.mit.edu	37	8	146033211	146033211	+	Missense_Mutation	SNP	C	C	T	rs148736241		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr8:146033211C>T	uc003zed.1	+	5	1017	c.910C>T	c.(910-912)CTC>TTC	p.L304F	ZNF517_uc010mgd.1_Missense_Mutation_p.L210F|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.L210F|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	304	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CAGGTTCACCCTCAACGAGCA	0.687000												
GLIPR2	152007	broad.mit.edu	37	9	36147845	36147845	+	Missense_Mutation	SNP	G	G	A	rs139645817	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:36147845G>A	uc003zyz.2	+	2	110	c.76G>A	c.(76-78)GTC>ATC	p.V26I	GLIPR2_uc011lpj.1_Missense_Mutation_p.V26I|GLIPR2_uc010mlf.1_Missense_Mutation_p.V26I|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Missense_Mutation_p.V26I	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	26						extracellular region|Golgi membrane				skin(3)|central_nervous_system(1)	4						GAAGCACGGCGTCCCCCCACT	0.537000												
DAPK1	1612	broad.mit.edu	37	9	90301573	90301573	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:90301573G>T	uc004apc.2	+	21	2470	c.2332G>T	c.(2332-2334)GTG>TTG	p.V778L	DAPK1_uc004apd.2_Missense_Mutation_p.V778L|DAPK1_uc011ltg.1_Missense_Mutation_p.V778L|DAPK1_uc011lth.1_Missense_Mutation_p.V515L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	778					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GGAGGTGTTTGTGGCCCCGAC	0.592000									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
FGD3	89846	broad.mit.edu	37	9	95772662	95772662	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:95772662G>A	uc004asw.2	+	7	1600	c.972G>A	c.(970-972)GCG>GCA	p.A324A	FGD3_uc004asx.2_Silent_p.A324A|FGD3_uc004asz.2_Silent_p.A324A|FGD3_uc004ata.2_Silent_p.A127A	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	324	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						GGAAGGATGCGGAGAGTGAGC	0.657000												
WNK2	65268	broad.mit.edu	37	9	95997175	95997175	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:95997175G>A	uc004ati.1	+	4	1161	c.1161G>A	c.(1159-1161)CTG>CTA	p.L387L	WNK2_uc011lud.1_Silent_p.L387L|WNK2_uc004atj.2_Silent_p.L387L|WNK2_uc004atk.2_Silent_p.L24L|WNK2_uc010mrc.1_Silent_p.L387L|WNK2_uc010mrd.1_Silent_p.L24L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	387	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						TGTGCATGCTGGAGATGGCCA	0.587000												
PRPF4	9128	broad.mit.edu	37	9	116053021	116053021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:116053021G>A	uc004bgx.2	+	12	1240	c.1190G>A	c.(1189-1191)GGA>GAA	p.G397E	PRPF4_uc004bgy.2_Missense_Mutation_p.G396E	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	397	WD 4.					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						CTACGCACAGGACGTTGTATC	0.413000												
AKNA	80709	broad.mit.edu	37	9	117099370	117099370	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:117099370G>A	uc004biq.3	-	21	4419	c.4284C>T	c.(4282-4284)CGC>CGT	p.R1428R	AKNA_uc004bin.3_Silent_p.R675R|AKNA_uc004bio.3_Silent_p.R888R|AKNA_uc004bip.3_Silent_p.R1347R|AKNA_uc004bir.3_Silent_p.R1428R|AKNA_uc004bis.3_Silent_p.R1428R|AKNA_uc010mve.2_Silent_p.R1309R	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						TGTGAGCCTGGCGCAGGTCGG	0.677000												
DBC1	1620	broad.mit.edu	37	9	121971060	121971060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:121971060C>T	uc004bkc.2	-	7	1538	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	361					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GAAAAGCTTGCGGGCAGTGCG	0.582000												
GFI1B	8328	broad.mit.edu	37	9	135866288	135866288	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:135866288G>A	uc004ccg.2	+	7	995	c.844G>A	c.(844-846)GGA>AGA	p.G282R	GFI1B_uc010mzy.2_Missense_Mutation_p.G236R	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	282	C2H2-type 5.|Mediates interaction with GATA1.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCAGGTGTGCGGAAAGGCCTT	0.647000												
COL5A1	1289	broad.mit.edu	37	9	137693842	137693842	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:137693842G>C	uc004cfe.2	+	38	3377	c.2995G>C	c.(2995-2997)GTC>CTC	p.V999L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	999	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCGGCGTGGTCGGCCCTCA	0.657000												
LCN9	392399	broad.mit.edu	37	9	138556088	138556088	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:138556088C>T	uc004cgk.1	+	2	177	c.177C>T	c.(175-177)TTC>TTT	p.F59F		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	lipocalin 9	59						extracellular region	pheromone binding|transporter activity			large_intestine(2)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TGAGGGTCTTCGTCCGGAATA	0.468000												
CAMSAP1	157922	broad.mit.edu	37	9	138707824	138707824	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr9:138707824T>C	uc004cgr.3	-	15	4299	c.4299A>G	c.(4297-4299)ATA>ATG	p.I1433M	CAMSAP1_uc004cgq.3_Missense_Mutation_p.I1323M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.I1155M	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1433						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TACGGCTCAGTATGGGCAGGG	0.617000												
HEPH	9843	broad.mit.edu	37	X	65393489	65393489	+	Silent	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:65393489G>A	uc011moz.1	+	4	540	c.480G>A	c.(478-480)CCG>CCA	p.P160P	HEPH_uc004dwn.2_Silent_p.P160P|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Silent_p.P160P|HEPH_uc011mpa.1_Silent_p.P160P	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	157	Extracellular (Potential).|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CTGTTCCCCCGGGGGGCAGCC	0.532000												
AR	367	broad.mit.edu	37	X	66905930	66905930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:66905930G>A	uc004dwu.1	+	3	2962	c.1847G>A	c.(1846-1848)CGT>CAT	p.R616H	AR_uc011mpd.1_Missense_Mutation_p.R616H|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.R616H|AR_uc004dwv.1_Missense_Mutation_p.R84H	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	615	NR C4-type.|Interaction with HIPK3 (By similarity).|Nuclear receptor.		R -> H (in AIS and PAIS).|R -> P (in AIS).|Missing (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CCATCTTGTCGTCTTCGGAAA	0.313000									Androgen_Insensitivity_Syndrome			
MAGEE1	57692	broad.mit.edu	37	X	75650027	75650027	+	Silent	SNP	C	C	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:75650027C>A	uc004ecm.1	+	1	1911	c.1704C>A	c.(1702-1704)CCC>CCA	p.P568P		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	568	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GACCTGTGCCCTTTGAAGGGT	0.493000												
TEX13B	56156	broad.mit.edu	37	X	107225140	107225140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:107225140G>A	uc004enn.1	-	2	311	c.218C>T	c.(217-219)GCC>GTC	p.A73V		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	73										ovary(1)	1						CACACCCAAGGCCAGGCTGCC	0.622000												
HTR2C	3358	broad.mit.edu	37	X	114141534	114141534	+	Silent	SNP	A	A	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:114141534A>G	uc004epu.1	+	6	1661	c.933A>G	c.(931-933)AAA>AAG	p.K311K	HTR2C_uc010nqc.1_Silent_p.K311K|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	311	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAGCTTCGAAAGTCCTTGGGA	0.438000												
MAGEC2	51438	broad.mit.edu	37	X	141290910	141290910	+	Silent	SNP	C	C	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chrX:141290910C>T	uc004fbu.1	-	3	1212	c.864G>A	c.(862-864)GAG>GAA	p.E288E		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	288	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGGGCACCTCCCGATACT	0.507000										HNSCC(46;0.14)		
GBAS	2631	broad.mit.edu	37	7	56045959	56045962	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:56045958_56045961TGTGA>T	uc003tre.2	+	2	265	c.232_splice	c.e2+1	p.F78_splice	GBAS_uc003trf.2_Splice_Site_p.F78_splice	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAATTACAGTGTGAGTGACAGGT	0.368												
DCDC2B	149069	broad.mit.edu	37	1	32680443	32680443	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:32680443delC	uc001bun.2	+	7	760	c.760delC	c.(760-762)CCAfs	p.P254fs	C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	254					intracellular signal transduction						0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCAAAGGAACCAGACCGAAT	0.562												
RHBDD1	84236	broad.mit.edu	37	2	227773563	227773563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:227773563delC	uc002voi.2	+	5	802	c.681delC	c.(679-681)TACfs	p.Y227fs	RHBDD1_uc010fxc.2_Frame_Shift_Del_p.Y227fs|RHBDD1_uc002voj.2_Frame_Shift_Del_p.Y58fs	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	227						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GTGTTGGTTACCCAGGACGGC	0.313												
ARID1A	8289	broad.mit.edu	37	1	27100330	27100342	+	Frame_Shift_Del	DEL	ACCCCTTCTGGCA	ACCCCTTCTGGCA	-			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:27100329_27100341CACCCCTTCTGGCA>C	uc001bmv.1	+	16	4414_4426	c.4041_4053CACCCCTTCTGGCA>C	c.(4039-4053)ggcaccccttctggcfs	p.G1347fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.G1346fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1347fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.G964fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G193fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1347	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCACCCAAGGCACCCCTTCTGGCAGCCCCTTCC	0.535			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
OR10Z1	128368	broad.mit.edu	37	1	158576487	158576488	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr1:158576486_158576487T>TG	uc010pio.2	+	0	258_259	c.258_259T>TG	c.(256-261)gctgggfs	p.A86fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554												
NCL	4691	broad.mit.edu	37	2	232326259	232326264	+	In_Frame_Del	DEL	TCATCG	TCATCG	-	rs144748001	byFrequency	TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr2:232326258_232326263CTCATCG>C	uc002vru.3	-	2	742_747	c.601_606CGATGAG>G	c.(601-606)gatgag>G	p.DE201del	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	201	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TACcatcttcctcatcgtcatcgtca	0.476												
GBAS	2631	broad.mit.edu	37	7	56045959	56045962	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr7:56045958_56045961TGTGA>T	uc003tre.2	+	2	265	c.232_splice	c.e2+1	p.F78_splice	GBAS_uc003trf.2_Splice_Site_p.F78_splice	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAATTACAGTGTGAGTGACAGGT	0.368												
PCDH15	65217	broad.mit.edu	37	10	55582575	55582576	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr10:55582574_55582575CCT>C	uc010qhy.1	-	34	5327_5328	c.4932_4933AGG>G	c.(4930-4935)gaggaafs	p.E1644fs	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Frame_Shift_Del_p.E1639fs|PCDH15_uc021pqz.1_Frame_Shift_Del_p.E1614fs|PCDH15_uc010qhv.1_Frame_Shift_Del_p.E1634fs|PCDH15_uc010qhw.1_Frame_Shift_Del_p.E1597fs|PCDH15_uc010qhx.1_Frame_Shift_Del_p.E1568fs|PCDH15_uc010qhz.1_Frame_Shift_Del_p.E1639fs|PCDH15_uc010qia.1_Frame_Shift_Del_p.E1617fs|PCDH15_uc001jju.1_Frame_Shift_Del_p.E1637fs|PCDH15_uc010qib.1_Frame_Shift_Del_p.E1614fs	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1637					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCCTTATTTCCTCTTTCTCTG	0.401										HNSCC(58;0.16)		
MUC6	4588	broad.mit.edu	37	11	1017061	1017061	+	Frame_Shift_Del	DEL	T	T	-	rs71472140		TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr11:1017060_1017060GT>G	uc001lsw.2	-	30	5792	c.5741_5741AC>C	c.(5740-5742)actfs	p.T1914fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1914	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGATGTAGAAGTTTTGGCCGT	0.552												
DCLK1	9201	broad.mit.edu	37	13	36428642	36428643	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr13:36428641_36428642G>GCC	uc001uvf.3	-	5	1312_1313	c.1029_1030C>GGC	c.(1027-1032)aagcagfs	p.K343fs	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Frame_Shift_Ins_p.K36fs|DCLK1_uc010teh.2_Frame_Shift_Ins_p.K36fs|DCLK1_uc010abk.3_Frame_Shift_Ins_p.K36fs|DCLK1_uc001uvh.4_Frame_Shift_Ins_p.K36fs	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	343					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R342W(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTACCCTCTGCTTCCGCAGGC	0.550												
TRAF3	7187	broad.mit.edu	37	14	103371673	103371673	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr14:103371672_103371672TG>T	uc001ymc.2	+	11	1611	c.1258_1258TG>T	c.(1258-1260)tggfs	p.W420fs	TRAF3_uc001ymd.2_Frame_Shift_Del_p.W420fs|TRAF3_uc001yme.2_Frame_Shift_Del_p.W395fs|TRAF3_uc010txy.2_Frame_Shift_Del_p.W337fs	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	420	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCTCATCTGGAAGATTCG	0.572												
SMCHD1	23347	broad.mit.edu	37	18	2705786	2705787	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr18:2705785_2705786G>GT	uc002klm.4	+	13	2125_2126	c.1936_1937G>GT	c.(1936-1938)ggafs	p.G646fs	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	646					chromosome organization		ATP binding	p.G646E(2)|p.G94E(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGCTACAGGAGGAGAGGTTCAA	0.342												
MUC16	94025	broad.mit.edu	37	19	9064484	9064485	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr19:9064483_9064484G>GA	uc002mkp.3	-	2	23166_23167	c.22962_22963C>TC	c.(22960-22965)attcagfs	p.I7654fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7656	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAATCCCTGAATTACTATAG	0.505												
DMC1	11144	broad.mit.edu	37	22	38935402	38935403	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-A4PE-01A-31D-A25D-08	TCGA-BR-A4PE-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	808cb589-dfd9-482e-8234-56895804eefb	b0f561cc-69d4-42a5-b972-7a01202c1d85	g.chr22:38935401_38935402T>TA	uc003avz.1	-	8	685_686	c.510_511A>TA	c.(508-513)cttaggfs	p.L170fs	DMC1_uc011anv.1_Intron	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	170					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	p.R169G(1)		large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCAATGTCCCTAAGGCGATCTG	0.411								Homologous recombination				
