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
PRAMEF1	65121	broad.mit.edu	37	1	12854440	12854440	+	Silent	SNP	A	A	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:12854440A>C	uc001auj.1	+	3	767	c.664A>C	c.(664-666)AGA>CGA	p.R222R		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	222											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;0.0042)|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)		ACGTCTGATAAGAAAGCTTCG	0.403												
GRHL3	57822	broad.mit.edu	37	1	24669504	24669504	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:24669504C>T	uc001biy.2	+	11	1469	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	GRHL3_uc001bix.2_Missense_Mutation_p.R470C|GRHL3_uc001biz.2_Missense_Mutation_p.R377C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	470					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGCCTGCAGCGCTCTGGAGG	0.652												
CSMD2	114784	broad.mit.edu	37	1	34042979	34042979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:34042979C>T	uc001bxn.1	-	50	7528	c.7499G>A	c.(7498-7500)CGC>CAC	p.R2500H	CSMD2_uc001bxm.1_Missense_Mutation_p.R2498H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2500	Sushi 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCACCAGGCGGTAGCCGGC	0.642												
LRRC8B	23507	broad.mit.edu	37	1	90058454	90058454	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:90058454T>C	uc001dni.2	+	8	2771	c.2264T>C	c.(2263-2265)CTC>CCC	p.L755P	LRRC8B_uc001dnh.2_Missense_Mutation_p.L755P|LRRC8B_uc001dnj.2_Missense_Mutation_p.L755P	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	755	LRR 13.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CATCTGGAGCTCATTGGTAAT	0.423												
LRRC8C	84230	broad.mit.edu	37	1	90180288	90180288	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:90180288G>A	uc001dnl.3	+	3	2401	c.2159G>A	c.(2158-2160)AGC>AAC	p.S720N		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	720	LRR 14.					endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAAGTGGAAAGCCTTCCAGAT	0.353												
FLG	2312	broad.mit.edu	37	1	152284143	152284143	+	Silent	SNP	A	A	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:152284143A>G	uc001ezu.1	-	3	3255	c.3219T>C	c.(3217-3219)GAT>GAC	p.D1073D	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1073	Filaggrin 6.|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)			GTCCCTCACTATCACTGGCCT	0.577									Ichthyosis			
FLG2	388698	broad.mit.edu	37	1	152324606	152324606	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:152324606T>G	uc001ezw.3	-	3	5729	c.5656A>C	c.(5656-5658)AGT>CGT	p.S1886R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1886							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)			TGCACTTCACTGTCACTGGAC	0.502												
CD1C	911	broad.mit.edu	37	1	158262412	158262412	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:158262412C>A	uc001fru.2	+	4	929	c.637C>A	c.(637-639)CGC>AGC	p.R213S	CD1C_uc001frv.2_Missense_Mutation_p.R16S	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	213	Extracellular (Potential).|Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					GCTGTCCAGTCGCCCCAGCCT	0.522												
ZNF281	23528	broad.mit.edu	37	1	200378016	200378016	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:200378016G>A	uc001gve.2	-	2	925	c.818C>T	c.(817-819)TCC>TTC	p.S273F	uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Missense_Mutation_p.S273F|ZNF281_uc001gvg.1_Missense_Mutation_p.S237F	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	273	C2H2-type 1.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						CAGGTGATAGGAGCTTCGGAA	0.468												
SYT14	255928	broad.mit.edu	37	1	210334256	210334256	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:210334256A>G	uc009xcv.2	+	8	1609	c.1537A>G	c.(1537-1539)AGA>GGA	p.R513G	SYT14_uc001hhs.3_Missense_Mutation_p.R577G|SYT14_uc001hht.3_Missense_Mutation_p.R532G|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.R558G|SYT14_uc010pso.1_Missense_Mutation_p.R475G|SYT14_uc010psp.1_Missense_Mutation_p.R51G	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	513	Cytoplasmic (Potential).|C2 2.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CAGCATGAAAAGAAAAGAGAT	0.388												
ESRRG	2104	broad.mit.edu	37	1	216850654	216850654	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:216850654A>C	uc001hkw.1	-	2	402	c.236T>G	c.(235-237)CTT>CGT	p.L79R	ESRRG_uc001hky.1_Missense_Mutation_p.L56R|ESRRG_uc009xdp.1_Missense_Mutation_p.L56R|ESRRG_uc001hkz.1_Missense_Mutation_p.L56R|ESRRG_uc010puc.1_Missense_Mutation_p.L56R|ESRRG_uc001hla.1_Missense_Mutation_p.L56R|ESRRG_uc001hlb.1_Missense_Mutation_p.L56R|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.L56R|ESRRG_uc001hld.1_Missense_Mutation_p.L56R|ESRRG_uc001hkx.1_Missense_Mutation_p.L84R|ESRRG_uc009xdo.1_Missense_Mutation_p.L56R|ESRRG_uc001hle.1_Missense_Mutation_p.L56R	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	79					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGGCGAGTCAAGTCCGTTCTG	0.567												
WNT3A	89780	broad.mit.edu	37	1	228246882	228246882	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:228246882C>T	uc001hrq.1	+	4	853	c.775C>T	c.(775-777)CGC>TGC	p.R259C	WNT3A_uc001hrp.1_Missense_Mutation_p.R259C	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	259					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				CCTGCGGCCGCGCTACACCTA	0.657												
HEATR1	55127	broad.mit.edu	37	1	236723047	236723047	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:236723047C>T	uc001hyd.1	-	34	4862	c.4737G>A	c.(4735-4737)GCG>GCA	p.A1579A	HEATR1_uc009xgh.1_Silent_p.A741A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1579					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACTAAGGAGCGCGCGCCAGA	0.433												
OR2G2	81470	broad.mit.edu	37	1	247752194	247752194	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr1:247752194A>G	uc010pyy.1	+	1	533	c.533A>G	c.(532-534)GAT>GGT	p.D178G		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	178	Extracellular (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)			CGCCAAGTGGATCATTTCATC	0.537												
MCM10	55388	broad.mit.edu	37	10	13234491	13234491	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:13234491G>A	uc001ima.2	+	13	1772	c.1671G>A	c.(1669-1671)TCG>TCA	p.S557S	MCM10_uc001imb.2_Silent_p.S556S|MCM10_uc001imc.2_Silent_p.S556S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	557					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						AGTCCATCTCGGCCTCAGCAC	0.512												
VIM	7431	broad.mit.edu	37	10	17276765	17276765	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:17276765A>G	uc001iou.2	+	6	1369	c.956A>G	c.(955-957)TAC>TGC	p.Y319C	VIM_uc001iov.1_Missense_Mutation_p.Y319C|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.Y319C|VIM_uc001ioy.1_Missense_Mutation_p.Y319C|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Missense_Mutation_p.Y319C	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	319	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCCACTGAGTACCGGAGACAG	0.517												
CACNB2	783	broad.mit.edu	37	10	18789768	18789768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:18789768C>T	uc001ipr.2	+	5	544	c.484C>T	c.(484-486)CGA>TGA	p.R162*	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Nonsense_Mutation_p.R162*|CACNB2_uc001ipt.2_Nonsense_Mutation_p.R162*|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Nonsense_Mutation_p.R134*|CACNB2_uc001ipv.2_Nonsense_Mutation_p.R134*|CACNB2_uc009xka.1_Nonsense_Mutation_p.R134*|CACNB2_uc001ipw.2_Nonsense_Mutation_p.R107*|CACNB2_uc001ipx.2_Nonsense_Mutation_p.R107*|CACNB2_uc009xkb.1_Nonsense_Mutation_p.R108*|CACNB2_uc010qcm.1_Nonsense_Mutation_p.R108*|CACNB2_uc001ipz.2_Nonsense_Mutation_p.R108*|CACNB2_uc001ipy.2_Nonsense_Mutation_p.R108*|CACNB2_uc010qcn.1_Nonsense_Mutation_p.R114*|CACNB2_uc010qco.1_Nonsense_Mutation_p.R114*|CACNB2_uc001iqa.2_Nonsense_Mutation_p.R114*	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	162	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTGGATAGGGCGATTGGTAAA	0.393												
MYST4	23522	broad.mit.edu	37	10	76789439	76789439	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:76789439C>T	uc001jwn.1	+	18	5350	c.4857C>T	c.(4855-4857)GTC>GTT	p.V1619V	MYST4_uc001jwo.1_Silent_p.V1327V|MYST4_uc001jwp.1_Silent_p.V1436V	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1619	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GCCCAAGTGTCCCTGCTCTGG	0.552			T	CREBBP	AML							
ZMIZ1	57178	broad.mit.edu	37	10	81052021	81052021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:81052021G>A	uc001kaf.2	+	11	1437	c.865G>A	c.(865-867)GCA>ACA	p.A289T	ZMIZ1_uc001kag.2_Missense_Mutation_p.A165T|ZMIZ1_uc001kah.1_Missense_Mutation_p.A165T	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	289	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			agcggcagtggcagcagcagc	0.498												
RRP12	23223	broad.mit.edu	37	10	99126349	99126349	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:99126349T>C	uc001knf.2	-	28	3384	c.3245A>G	c.(3244-3246)GAC>GGC	p.D1082G	RRP12_uc001kne.2_Missense_Mutation_p.D97G|RRP12_uc009xvl.2_Missense_Mutation_p.D199G|RRP12_uc009xvm.2_Missense_Mutation_p.D800G|RRP12_uc010qou.1_Missense_Mutation_p.D1021G|RRP12_uc009xvn.2_Missense_Mutation_p.D982G	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1082	Glu-rich.					integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GTCCTCCTCGTCCTCTGAGTC	0.607												
SEC23IP	11196	broad.mit.edu	37	10	121658153	121658153	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr10:121658153C>T	uc001leu.1	+	2	450	c.378C>T	c.(376-378)TCC>TCT	p.S126S	SEC23IP_uc010qtc.1_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	126	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAACTGGATCCCAAGATGTCT	0.473												
MUC5B	727897	broad.mit.edu	37	11	1263878	1263878	+	Missense_Mutation	SNP	C	C	T	rs142667139	by1000genomes	TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:1263878C>T	uc009ycr.1	+	47	7973	c.7847C>T	c.(7846-7848)ACG>ATG	p.T2616M	MUC5B_uc001ltb.2_Missense_Mutation_p.T1926M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1923	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGGATCCACGGCCACCCCG	0.652												
MRGPRE	116534	broad.mit.edu	37	11	3249928	3249928	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:3249928G>A	uc001lxq.3	-	2	409	c.99C>T	c.(97-99)CTC>CTT	p.L33L		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	33	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCGAGGCCGAGCCCCTCGG	0.647												
UBQLN3	50613	broad.mit.edu	37	11	5528945	5528945	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:5528945T>G	uc001may.1	-	2	1930	c.1844A>C	c.(1843-1845)CAC>CCC	p.H615P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	615	UBA.									ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCTGAAAGTGAGCCTCAGG	0.557												
KCNA4	3739	broad.mit.edu	37	11	30032974	30032974	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:30032974T>C	uc001msk.2	-	2	2404	c.1252A>G	c.(1252-1254)ACA>GCA	p.T418A		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	418	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTGCCCAGTGTGATGAAGTAA	0.507												
ACCSL	390110	broad.mit.edu	37	11	44069816	44069816	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:44069816G>A	uc001mxw.1	+	1	286	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	77							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TTAATATGCCGGATGATCAAC	0.577												
OR4A47	403253	broad.mit.edu	37	11	48510618	48510618	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:48510618T>G	uc010rhx.1	+	1	274	c.274T>G	c.(274-276)TTC>GTC	p.F92V		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTCCATATCCTTCCAATCTTG	0.428												
VSIG2	23584	broad.mit.edu	37	11	124620670	124620670	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr11:124620670C>T	uc001qas.2	-	3	443	c.367G>A	c.(367-369)GTC>ATC	p.V123I	VSIG2_uc001qat.2_Missense_Mutation_p.V123I	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	123	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GGGTTGTTGACTTGGCAGAGG	0.547												
CLEC2D	29121	broad.mit.edu	37	12	9840550	9840550	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:9840550C>T	uc001qwg.1	+	3	247	c.225C>T	c.(223-225)TGC>TGT	p.C75C	CLEC2D_uc001qwf.1_Silent_p.C75C|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_Silent_p.C33C	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	75	Extracellular (Potential).				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0						AAGCTGCATGCCCAGAAAGCT	0.328												
C12orf72	254013	broad.mit.edu	37	12	31820774	31820774	+	Silent	SNP	A	A	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:31820774A>T	uc009zjr.2	+	4	848	c.639A>T	c.(637-639)CGA>CGT	p.R213R	C12orf72_uc001rkl.2_Silent_p.R213R|C12orf72_uc001rkm.2_Silent_p.R213R	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	213						cytoplasm	protein methyltransferase activity				0						ATAGAACTCGAGTACTGATTG	0.473												
COL2A1	1280	broad.mit.edu	37	12	48371127	48371127	+	Silent	SNP	G	G	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:48371127G>T	uc001rqu.2	-	46	3430	c.3249C>A	c.(3247-3249)GGC>GGA	p.G1083G	COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.G1014G	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1083	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCCTTGCTTGCCAGTTGGAC	0.632												
NCKAP5L	57701	broad.mit.edu	37	12	50185782	50185782	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:50185782G>A	uc009zlk.2	-	13	4047	c.3845C>T	c.(3844-3846)ACG>ATG	p.T1282M	NCKAP5L_uc001rvc.3_Missense_Mutation_p.T486M|NCKAP5L_uc001rvb.2_3'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1278	Pro-rich.									central_nervous_system(1)	1						GCCCTGGGGCGTAGGGGACGG	0.721												
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:56482341G>T	uc001sjh.2	+	8	1082	c.889G>T	c.(889-891)GAT>TAT	p.D297Y	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.D238Y|ERBB3_uc001sji.2_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	297	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512												
C12orf12	196477	broad.mit.edu	37	12	91348279	91348279	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:91348279C>T	uc001tbj.2	-	1	675	c.241G>A	c.(241-243)GTG>ATG	p.V81M		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	81										central_nervous_system(1)|pancreas(1)	2						TTAGAGCACACGGGTGGTTGG	0.622												
BTBD11	121551	broad.mit.edu	37	12	107712922	107712922	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:107712922G>A	uc001tmk.1	+	1	726	c.205G>A	c.(205-207)GTC>ATC	p.V69I	BTBD11_uc009zut.1_Missense_Mutation_p.V69I|BTBD11_uc001tmj.2_Missense_Mutation_p.V69I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	69						integral to membrane	DNA binding			skin(2)|ovary(1)	3						CTTTGACACTGTCAACACTGC	0.657												
WSCD2	9671	broad.mit.edu	37	12	108589694	108589694	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:108589694G>A	uc001tms.2	+	2	829	c.85G>A	c.(85-87)GCT>ACT	p.A29T	WSCD2_uc001tmt.2_Missense_Mutation_p.A29T	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	29	Helical; (Potential).					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						CTACCTGACTGCTGGGAGCCT	0.607												
FICD	11153	broad.mit.edu	37	12	108912824	108912824	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:108912824G>A	uc001tmx.1	+	3	1095	c.949G>A	c.(949-951)GGA>AGA	p.G317R		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	317	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						GGTCCTGGTCGGACACCACAT	0.607												
WSB2	55884	broad.mit.edu	37	12	118490136	118490136	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr12:118490136G>T	uc001twr.2	-	2	259	c.161C>A	c.(160-162)CCC>CAC	p.P54H	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.P54H	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	54					intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACGGCCAGGGGATCAGTTT	0.532												
LPAR6	10161	broad.mit.edu	37	13	48986434	48986434	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr13:48986434G>C	uc010acu.2	-	1	1220	c.126C>G	c.(124-126)TTC>TTG	p.F42L	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.F42L|LPAR6_uc001vcf.2_Missense_Mutation_p.F42L	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	42	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						GGACGCAGATGAAAATGTATA	0.363												
GPC5	2262	broad.mit.edu	37	13	92345752	92345752	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr13:92345752G>A	uc010tif.1	+	3	1003	c.637G>A	c.(637-639)GGA>AGA	p.G213R		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	213						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGAGTAATGGGACAGATGGG	0.517												
PRKD1	5587	broad.mit.edu	37	14	30135292	30135292	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr14:30135292T>G	uc001wqh.2	-	3	707	c.526A>C	c.(526-528)AAA>CAA	p.K176Q		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	176	Phorbol-ester/DAG-type 1.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTCACATTTAAGACCTTGA	0.323												
UNC13C	440279	broad.mit.edu	37	15	54586259	54586259	+	Silent	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr15:54586259T>C	uc002ack.2	+	9	3985	c.3985T>C	c.(3985-3987)TTA>CTA	p.L1329L	UNC13C_uc002acl.2_Silent_p.L159L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1329					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGGTACAACTTAGGTGATTT	0.348												
HAPLN3	145864	broad.mit.edu	37	15	89424847	89424847	+	Silent	SNP	C	C	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr15:89424847C>A	uc002bnc.2	-	3	362	c.234G>T	c.(232-234)CTG>CTT	p.L78L	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.L140L	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	78	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCGGGGAGACCAGGGCCGGCT	0.657												
MAPK8IP3	23162	broad.mit.edu	37	16	1817631	1817631	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:1817631G>A	uc002cmk.2	+	27	3421	c.3301G>A	c.(3301-3303)GTA>ATA	p.V1101I	MAPK8IP3_uc002cml.2_Missense_Mutation_p.V1095I|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.V1102I	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1101					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CGGCGATGGCGTATGGGTGTC	0.622												
ZNF423	23090	broad.mit.edu	37	16	49671764	49671764	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:49671764G>A	uc002efs.2	-	5	1597	c.1299C>T	c.(1297-1299)CAC>CAT	p.H433H	ZNF423_uc010vgn.1_Silent_p.H316H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	433	C2H2-type 9; degenerate.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCTTGTCCGCGTGGATGGTCT	0.587												
CDH1	999	broad.mit.edu	37	16	68849586	68849586	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:68849586G>A	uc002ewg.1	+	10	1613	c.1489G>A	c.(1489-1491)GAG>AAG	p.E497K	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.E436K	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	497	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGAAGTGTCCGAGGACTTTGG	0.512			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
HYDIN	54768	broad.mit.edu	37	16	70989374	70989374	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:70989374C>G	uc002ezr.2	-	40	6345	c.6217G>C	c.(6217-6219)GCT>CCT	p.A2073P		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2074										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTGGCCACAGCTTCCAGCACA	0.562												
DNAH9	1770	broad.mit.edu	37	17	11666890	11666890	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:11666890G>T	uc002gne.2	+	36	7197	c.7129G>T	c.(7129-7131)GCT>TCT	p.A2377S	DNAH9_uc010coo.2_Missense_Mutation_p.A1671S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2377					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTTGTGTTTGCTGCCATCTG	0.478												
CCT6B	10693	broad.mit.edu	37	17	33267619	33267619	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:33267619C>T	uc002hig.2	-	8	1001	c.907G>A	c.(907-909)GAT>AAT	p.D303N	CCT6B_uc010ctg.2_Missense_Mutation_p.D266N|CCT6B_uc010wcc.1_Missense_Mutation_p.D258N	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	303					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				GCAAGAGAATCTAAGGAAAAT	0.229												
RNF43	54894	broad.mit.edu	37	17	56448391	56448391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:56448391G>A	uc002iwf.2	-	2	2212	c.256C>T	c.(256-258)CAC>TAC	p.H86Y	RNF43_uc010wnv.1_Intron|RNF43_uc002iwh.3_Missense_Mutation_p.H86Y|RNF43_uc002iwg.3_Missense_Mutation_p.H86Y|RNF43_uc010dcw.2_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	86	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACAGCGGGTGGGACTGCAGA	0.572												
SLC39A11	201266	broad.mit.edu	37	17	70732808	70732808	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:70732808C>A	uc002jjb.2	-	7	788	c.673G>T	c.(673-675)GCT>TCT	p.A225S	SLC39A11_uc002jja.2_Missense_Mutation_p.A218S	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	225					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						TCAAAGGTAGCAGATGCCGTC	0.522												
LAMA1	284217	broad.mit.edu	37	18	7117677	7117677	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr18:7117677C>T	uc002knm.2	-	1	137	c.43G>A	c.(43-45)GCG>ACG	p.A15T	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	15					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCACTGCGCGGCGACACAC	0.602												
MIB1	57534	broad.mit.edu	37	18	19427012	19427012	+	Silent	SNP	T	T	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr18:19427012T>A	uc002ktq.2	+	16	2319	c.2319T>A	c.(2317-2319)GGT>GGA	p.G773G	MIB1_uc002ktp.2_Silent_p.G412G	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	773					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			ATAAGAAGGGTCAATCGCCAC	0.448												
DCC	1630	broad.mit.edu	37	18	50912418	50912418	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr18:50912418A>C	uc002lfe.1	+	16	2952	c.2365A>C	c.(2365-2367)AGT>CGT	p.S789R	DCC_uc010xdr.1_Missense_Mutation_p.S637R|DCC_uc010dpf.1_Missense_Mutation_p.S444R	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	789	Extracellular (Potential).|Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCAGAGTCAAGTTCCCATTA	0.343												
THEG	51298	broad.mit.edu	37	19	375955	375955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:375955G>A	uc002lol.2	-	1	55	c.16C>T	c.(16-18)CGA>TGA	p.R6*	THEG_uc002lom.2_Nonsense_Mutation_p.R6*	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	6					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGACCTTCGCCTGCTGTCC	0.682												
MUC16	94025	broad.mit.edu	37	19	9070919	9070919	+	Silent	SNP	A	A	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:9070919A>G	uc002mkp.2	-	3	16731	c.16527T>C	c.(16525-16527)TCT>TCC	p.S5509S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5511	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						TGGGCACATAAGAAAAGGCAG	0.498												
NFIX	4784	broad.mit.edu	37	19	13192536	13192536	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:13192536C>T	uc010xmx.1	+	8	1198	c.1145C>T	c.(1144-1146)ACG>ATG	p.T382M	NFIX_uc002mwd.2_Missense_Mutation_p.T374M|NFIX_uc002mwe.2_Missense_Mutation_p.T366M|NFIX_uc002mwf.2_Missense_Mutation_p.T336M|NFIX_uc002mwg.1_Missense_Mutation_p.T373M			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	374					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TTCCCCTCCACGTCCATCATC	0.627												
ATP13A1	57130	broad.mit.edu	37	19	19756753	19756753	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:19756753C>T	uc002nnh.3	-	24	3318	c.3290G>A	c.(3289-3291)AGC>AAC	p.S1097N	GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.S237N|ATP13A1_uc002nnf.3_Missense_Mutation_p.S465N|ATP13A1_uc002nng.2_Missense_Mutation_p.S979N	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1097	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GTTGACCAGGCTTGGCTCAAA	0.567												
ZNF676	163223	broad.mit.edu	37	19	22364350	22364350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:22364350G>A	uc002nqs.1	-	3	487	c.169C>T	c.(169-171)CAA>TAA	p.Q57*		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTATGCCTTGCTCTGGCCAA	0.299												
ZNF568	374900	broad.mit.edu	37	19	37441098	37441098	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:37441098A>C	uc002ofc.2	+	7	1558	c.1043A>C	c.(1042-1044)AAT>ACT	p.N348T	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.N272T|ZNF568_uc010efe.2_Missense_Mutation_p.N272T|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	348	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAAGCAAAATCTTATTGAG	0.388												
ATP1A3	478	broad.mit.edu	37	19	42489213	42489213	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:42489213G>T	uc002osg.2	-	8	1004	c.850C>A	c.(850-852)CTC>ATC	p.L284I	ATP1A3_uc010xwf.1_Missense_Mutation_p.L295I|ATP1A3_uc010xwg.1_Missense_Mutation_p.L254I|ATP1A3_uc010xwh.1_Missense_Mutation_p.L297I|ATP1A3_uc002osh.2_Missense_Mutation_p.L284I	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	284	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CCGGTGATGAGCTGGATGAAG	0.597												
RSPH6A	81492	broad.mit.edu	37	19	46307639	46307639	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:46307639G>A	uc002pdm.2	-	3	1667	c.1524C>T	c.(1522-1524)GAC>GAT	p.D508D	RSPH6A_uc002pdl.2_Silent_p.D244D	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	508	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						CCTCCTCCTCGTCGCCCTCCT	0.662												
CNOT3	4849	broad.mit.edu	37	19	54656241	54656241	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr19:54656241G>A	uc002qdj.1	+	15	2093	c.1782G>A	c.(1780-1782)CCG>CCA	p.P594P	CNOT3_uc010yel.1_Silent_p.P594P|CNOT3_uc002qdi.2_Silent_p.P507P|CNOT3_uc002qdk.1_Silent_p.P594P|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Silent_p.P49P	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	594	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAACATACCGCTGTCGCTGG	0.652												
FNDC4	64838	broad.mit.edu	37	2	27717235	27717235	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr2:27717235A>C	uc002rkx.2	-	3	638	c.232T>G	c.(232-234)TAC>GAC	p.Y78D	GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	78	Extracellular (Potential).|Fibronectin type-III.					integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)					GAAATGGAGTAGCCAATGACG	0.552												
KCMF1	56888	broad.mit.edu	37	2	85276556	85276556	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr2:85276556C>T	uc002sox.3	+	6	1013	c.669C>T	c.(667-669)TCC>TCT	p.S223S		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	223						intracellular	ligase activity|zinc ion binding			ovary(2)	2						CTGGCCCTTCCGCTTCTCAGT	0.527												
TTN	7273	broad.mit.edu	37	2	179605766	179605766	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr2:179605766A>T	uc010zfh.1	-	46	11905	c.11681T>A	c.(11680-11682)CTT>CAT	p.L3894H	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3827H|TTN_uc010zfj.1_Missense_Mutation_p.L3702H|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3835							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)			CTCTGAGTCAAGTGCTTCAAC	0.443												
SLC11A1	6556	broad.mit.edu	37	2	219251895	219251895	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr2:219251895G>T	uc002vhv.2	+	6	853	c.513G>T	c.(511-513)TGG>TGT	p.W171C	SLC11A1_uc010zkb.1_3'UTR|SLC11A1_uc010fvp.1_Missense_Mutation_p.W171C|SLC11A1_uc010fvq.1_Missense_Mutation_p.W104C|SLC11A1_uc010zkc.1_Missense_Mutation_p.W104C|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Missense_Mutation_p.W53C|SLC11A1_uc010fvr.2_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	171	Helical; (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCACTCTGGGGTGGCGTCC	0.602												
SYCP2	10388	broad.mit.edu	37	20	58440688	58440688	+	Silent	SNP	A	A	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr20:58440688A>C	uc002yaz.2	-	42	4537	c.4398T>G	c.(4396-4398)ACT>ACG	p.T1466T		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1466					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TAGCCAATGAAGTTTTCAAAA	0.254												
BAGE2	85319	broad.mit.edu	37	21	11098713	11098713	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr21:11098713G>A	uc002yit.1	-	1	213	c.5C>T	c.(4-6)GCG>GTG	p.A2V	BAGE_uc002yix.2_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		cactccagccgccatcttact	0												
SAMSN1	64092	broad.mit.edu	37	21	15872912	15872912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr21:15872912G>A	uc002yju.1	-	6	788	c.706C>T	c.(706-708)CGA>TGA	p.R236*	SAMSN1_uc010gky.1_Nonsense_Mutation_p.R68*|SAMSN1_uc002yjv.1_Nonsense_Mutation_p.R304*	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	236					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTACTCCTTCGGTTTGCCTTT	0.423												
KRTAP10-10	353333	broad.mit.edu	37	21	46058077	46058077	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr21:46058077A>T	uc002zfq.2	+	1	805	c.743A>T	c.(742-744)AAG>ATG	p.K248M	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	248						keratin filament					0						TCTGGCCAGAAGTCCAGCTGC	0.667												
COL6A2	1292	broad.mit.edu	37	21	47539015	47539015	+	Silent	SNP	C	C	T	rs61735827	byFrequency	TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr21:47539015C>T	uc002zia.1	+	14	1333	c.1251C>T	c.(1249-1251)CGC>CGT	p.R417R	COL6A2_uc002zhy.1_Silent_p.R417R|COL6A2_uc002zhz.1_Silent_p.R417R|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	417	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.R417R(1)		central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGGCCCCGCGGACCCAAAG	0.662												
ITGA9	3680	broad.mit.edu	37	3	37555268	37555268	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:37555268C>T	uc003chd.2	+	9	965	c.912C>T	c.(910-912)TTC>TTT	p.F304F	ITGA9_uc003chc.2_Silent_p.F304F	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	304	Extracellular (Potential).|FG-GAP 5.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTCTTACTTCGGCTCCTCCT	0.552												
SCN5A	6331	broad.mit.edu	37	3	38640419	38640419	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:38640419G>A	uc003cio.2	-	13	2207	c.2013C>T	c.(2011-2013)AGC>AGT	p.S671S	SCN5A_uc003cin.2_Silent_p.S671S|SCN5A_uc003cil.3_Silent_p.S671S|SCN5A_uc010hhi.2_Silent_p.S671S|SCN5A_uc010hhk.2_Silent_p.S671S|SCN5A_uc011ayr.1_Silent_p.S671S|SCN5A_uc010hhj.1_Silent_p.S282S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	671					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTCCAGTGCGCTGGTGAGGA	0.637												
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:49412905C>T	uc003cwu.2	-	2	394	c.118G>A	c.(118-120)GAG>AAG	p.E40K	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	40	Effector region (Potential).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438												
CACNA2D3	55799	broad.mit.edu	37	3	54604065	54604065	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:54604065C>T	uc003dhf.2	+	8	870	c.822C>T	c.(820-822)ATC>ATT	p.I274I	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.I180I|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.I8I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	274	Extracellular (Potential).|VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTCTGACTATCGCGAAGCAAA	0.463												
ROBO1	6091	broad.mit.edu	37	3	78684982	78684982	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:78684982T>C	uc003dqe.2	-	23	3522	c.3314A>G	c.(3313-3315)CAG>CGG	p.Q1105R	ROBO1_uc003dqb.2_Missense_Mutation_p.Q1066R|ROBO1_uc003dqc.2_Missense_Mutation_p.Q1005R|ROBO1_uc003dqd.2_Missense_Mutation_p.Q1060R|ROBO1_uc010hoh.2_Missense_Mutation_p.Q297R|ROBO1_uc011bgl.1_Missense_Mutation_p.Q677R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1105	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTTGTTTCTGCTGTCCCAG	0.493												
GRAMD1C	54762	broad.mit.edu	37	3	113652378	113652378	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:113652378G>A	uc003eaq.3	+	12	1306	c.1230G>A	c.(1228-1230)CGG>CGA	p.R410R	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Silent_p.R243R|GRAMD1C_uc003eas.2_Silent_p.R205R|GRAMD1C_uc003eat.2_Silent_p.R69R	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	410						integral to membrane				ovary(2)|skin(1)	3						AAGAAAGTCGGGAAGCACGAT	0.333												
ZNF80	7634	broad.mit.edu	37	3	113955522	113955522	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:113955522C>T	uc010hqo.2	-	1	904	c.400G>A	c.(400-402)GAG>AAG	p.E134K	ZNF80_uc003ebf.2_RNA	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	134	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCGCTGCACTCATAGGGCTTC	0.542												
MYLK	4638	broad.mit.edu	37	3	123376108	123376108	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:123376108G>A	uc003ego.2	-	24	4435	c.4153C>T	c.(4153-4155)CGC>TGC	p.R1385C	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.R185C|MYLK_uc011bjw.1_Missense_Mutation_p.R1385C|MYLK_uc003egp.2_Missense_Mutation_p.R1316C|MYLK_uc003egq.2_Missense_Mutation_p.R1385C|MYLK_uc003egr.2_Missense_Mutation_p.R1316C|MYLK_uc003egs.2_Missense_Mutation_p.R1209C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1385	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGGTGCTGCGGCATGTGGCT	0.537												
CHST2	9435	broad.mit.edu	37	3	142840282	142840282	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr3:142840282C>T	uc003evm.2	+	2	1513	c.624C>T	c.(622-624)GAC>GAT	p.D208D		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	208	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						ATCCGGGGGACGCCGTTTCCC	0.607												
DHX15	1665	broad.mit.edu	37	4	24558017	24558017	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:24558017T>C	uc003gqx.2	-	4	886	c.718A>G	c.(718-720)ATG>GTG	p.M240V		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	240	Helicase ATP-binding.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				CGAAGTAACATCCCATCAGTC	0.383												
TLR10	81793	broad.mit.edu	37	4	38777160	38777160	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:38777160C>T	uc003gti.2	-	2	431	c.52G>A	c.(52-54)GAG>AAG	p.E18K	TLR10_uc003gtj.2_Missense_Mutation_p.E18K|TLR10_uc003gtk.2_Missense_Mutation_p.E18K	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	18					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						GCATCACCCTCTGCTGTCATA	0.418												
ADAMTS3	9508	broad.mit.edu	37	4	73156747	73156747	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:73156747T>C	uc003hgk.1	-	20	2793	c.2756A>G	c.(2755-2757)AAA>AGA	p.K919R		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	919	TSP type-1 3.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCACAGGTTTTGGTGCAGTG	0.488												
ANXA3	306	broad.mit.edu	37	4	79500235	79500235	+	Missense_Mutation	SNP	G	G	A	rs146728751	byFrequency	TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:79500235G>A	uc003hld.2	+	4	468	c.158G>A	c.(157-159)CGG>CAG	p.R53Q	ANXA3_uc003hle.2_Missense_Mutation_p.R14Q|ANXA3_uc010ijk.2_Missense_Mutation_p.R14Q	NM_005139	NP_005130	P12429	ANXA3_HUMAN	annexin A3	53	Annexin 1.				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity				0						AATGCACAGCGGCAGCTGATT	0.383												
WDFY3	23001	broad.mit.edu	37	4	85661555	85661555	+	Silent	SNP	T	T	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:85661555T>A	uc003hpd.2	-	39	6657	c.6249A>T	c.(6247-6249)TCA>TCT	p.S2083S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2083						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACAATCCCTGTGATCTTCTCT	0.348												
PTPN13	5783	broad.mit.edu	37	4	87643423	87643423	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:87643423C>T	uc003hpz.2	+	10	1924	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	PTPN13_uc003hpy.2_Missense_Mutation_p.R482W|PTPN13_uc003hqa.2_Missense_Mutation_p.R482W|PTPN13_uc003hqb.2_Missense_Mutation_p.R482W	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	482	Potential.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATGCTAAAACGGCAAGAGGA	0.433												
ADAD1	132612	broad.mit.edu	37	4	123336638	123336638	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:123336638C>A	uc003ieo.2	+	11	1586	c.1354C>A	c.(1354-1356)CCT>ACT	p.P452T	ADAD1_uc003iep.2_Missense_Mutation_p.P441T|ADAD1_uc003ieq.2_Missense_Mutation_p.P434T	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	452	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						AGTCAACAGACCTCATATTAG	0.383												
FAT4	79633	broad.mit.edu	37	4	126238415	126238415	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:126238415G>A	uc003ifj.3	+	1	849	c.849G>A	c.(847-849)GCG>GCA	p.A283A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	283	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCACCAACGCGGACATCCGCT	0.672											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT4	79633	broad.mit.edu	37	4	126370752	126370752	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:126370752T>G	uc003ifj.3	+	9	8581	c.8581T>G	c.(8581-8583)TTT>GTT	p.F2861V	FAT4_uc011cgp.1_Missense_Mutation_p.F1159V|FAT4_uc003ifi.1_Missense_Mutation_p.F339V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2861	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGTCACAATATTTGTGACAGA	0.398												
DCHS2	54798	broad.mit.edu	37	4	155157788	155157788	+	Silent	SNP	G	G	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr4:155157788G>T	uc003inw.2	-	25	6651	c.6651C>A	c.(6649-6651)ACC>ACA	p.T2217T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2217	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTTGACATGGGTGTGATAGC	0.478												
FAM105B	90268	broad.mit.edu	37	5	14681649	14681649	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:14681649C>T	uc003jfk.2	+	4	553	c.401C>T	c.(400-402)ACG>ATG	p.T134M		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	134										ovary(2)	2	Lung NSC(4;0.00696)					CTGAGGGCCACGCTGTTCCAG	0.562												
MEF2C	4208	broad.mit.edu	37	5	88018596	88018596	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:88018596G>A	uc003kjj.2	-	11	1920	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	MEF2C_uc003kji.2_Missense_Mutation_p.A408V|MEF2C_uc003kjk.2_Missense_Mutation_p.A416V|MEF2C_uc003kjm.2_Missense_Mutation_p.A406V|MEF2C_uc003kjl.2_Missense_Mutation_p.A426V	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	416					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGATCTCCCCGCCTCGTGGCG	0.562										HNSCC(66;0.2)		
AQPEP	206338	broad.mit.edu	37	5	115298413	115298413	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:115298413C>T	uc003kro.2	+	1	263	c.99C>T	c.(97-99)CTC>CTT	p.L33L	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	33	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						TGGCCGTACTCGCCGCCTTGT	0.692												
PCDHA5	56143	broad.mit.edu	37	5	140203412	140203412	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:140203412C>T	uc003lhl.2	+	1	2052	c.2052C>T	c.(2050-2052)GGC>GGT	p.G684G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.G684G|PCDHA5_uc003lhj.1_Silent_p.G684G	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	684	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCGGGCGCTGTGGGTC	0.662												
PCDHA12	56137	broad.mit.edu	37	5	140256720	140256720	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:140256720G>A	uc003lic.2	+	1	1790	c.1663G>A	c.(1663-1665)GTG>ATG	p.V555M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V555M	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	555	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.701												
PCDHB8	56128	broad.mit.edu	37	5	140558894	140558894	+	Silent	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:140558894T>C	uc011dai.1	+	1	1465	c.1279T>C	c.(1279-1281)TTA>CTA	p.L427L	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTCACTGACTTAGGGACACC	0.517												
RNF145	153830	broad.mit.edu	37	5	158630531	158630531	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:158630531C>G	uc003lxp.2	-	2	408	c.95G>C	c.(94-96)AGC>ACC	p.S32T	RNF145_uc011ddy.1_Missense_Mutation_p.S46T|RNF145_uc003lxo.1_Missense_Mutation_p.S60T|RNF145_uc011ddz.1_Missense_Mutation_p.S49T|RNF145_uc010jiq.1_Missense_Mutation_p.S62T|RNF145_uc011dea.1_Missense_Mutation_p.S48T	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	32						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAAAAGGAGCTGACATCCCA	0.438												
RGS14	10636	broad.mit.edu	37	5	176797932	176797932	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:176797932T>A	uc003mgf.2	+	11	1336	c.1154T>A	c.(1153-1155)GTG>GAG	p.V385E	RGS14_uc003mgh.2_Missense_Mutation_p.V233E|RGS14_uc003mgi.2_Missense_Mutation_p.V156E|RGS14_uc003mgj.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	385	RBD 2.|Necessary for interaction with RABGEF1 (By similarity).				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAGCGCGTGGTACGAATC	0.692												
OR2Y1	134083	broad.mit.edu	37	5	180166621	180166621	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr5:180166621G>A	uc003mmf.1	-	1	438	c.438C>T	c.(436-438)ATC>ATT	p.I146I		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGAGGCGATAGCCAGGG	0.572												
UBR2	23304	broad.mit.edu	37	6	42625808	42625808	+	Silent	SNP	G	G	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr6:42625808G>A	uc011dur.1	+	27	2919	c.2919G>A	c.(2917-2919)CTG>CTA	p.L973L	UBR2_uc011dus.1_Silent_p.L618L|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	973					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TAGCTATGCTGGAAACACTAC	0.378												
UBE2CBP	90025	broad.mit.edu	37	6	83767606	83767606	+	Silent	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr6:83767606T>C	uc003pjp.2	-	2	321	c.213A>G	c.(211-213)CTA>CTG	p.L71L	UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Silent_p.L39L	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	71						cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)		BRCA - Breast invasive adenocarcinoma(397;0.0944)		CAACAAACTGTAGCCCACGGC	0.483											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GRIK2	2898	broad.mit.edu	37	6	102074313	102074313	+	Silent	SNP	A	A	G			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr6:102074313A>G	uc003pqp.3	+	3	591	c.342A>G	c.(340-342)TCA>TCG	p.S114S	GRIK2_uc003pqn.2_Silent_p.S114S|GRIK2_uc003pqo.3_Silent_p.S114S|GRIK2_uc010kcw.2_Silent_p.S114S	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	114	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ACAGCTCATCAGCAAACGCAG	0.517												
DGKI	9162	broad.mit.edu	37	7	137237196	137237196	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr7:137237196G>T	uc003vtt.2	-	20	2067	c.2066C>A	c.(2065-2067)GCT>GAT	p.A689D	DGKI_uc003vtu.2_Missense_Mutation_p.A389D	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	689					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						CCGAATCATAGCTGGGGCCAA	0.517												
CNBD1	168975	broad.mit.edu	37	8	88365898	88365898	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr8:88365898T>A	uc003ydy.2	+	10	1235	c.1187T>A	c.(1186-1188)CTT>CAT	p.L396H		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396	cNMP.									ovary(3)	3						ATGGGGAAACTTAAGGAGAAG	0.323												
DCAF4L2	138009	broad.mit.edu	37	8	88885868	88885868	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr8:88885868T>C	uc003ydz.2	-	1	429	c.332A>G	c.(331-333)GAG>GGG	p.E111G		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	111										ovary(1)	1						TACCCGGAGCTCAGGGGTCGT	0.547												
RIMS2	9699	broad.mit.edu	37	8	104898169	104898169	+	Silent	SNP	T	T	C			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr8:104898169T>C	uc003yls.2	+	2	917	c.676T>C	c.(676-678)TTG>CTG	p.L226L	RIMS2_uc003ylp.2_Silent_p.L448L|RIMS2_uc003ylw.2_Silent_p.L256L|RIMS2_uc003ylq.2_Silent_p.L256L|RIMS2_uc003ylr.2_Silent_p.L256L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	479					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			TAGACCAGACTTGAGGCGTAC	0.463										HNSCC(12;0.0054)		
C9orf150	286343	broad.mit.edu	37	9	12821406	12821406	+	Missense_Mutation	SNP	G	G	A	rs143572342	byFrequency	TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr9:12821406G>A	uc003zkw.2	+	2	1037	c.334G>A	c.(334-336)GTC>ATC	p.V112I		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	115											0				GBM - Glioblastoma multiforme(1;1.64e-13)		AGCCACAGACGTCAGGCTCAT	0.478												
WDR13	64743	broad.mit.edu	37	X	48457987	48457987	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chrX:48457987C>T	uc004dkh.1	+	5	552	c.405C>T	c.(403-405)AGC>AGT	p.S135S	WDR13_uc010nif.1_Silent_p.S13S|WDR13_uc004dki.1_Silent_p.S43S|WDR13_uc004dkj.1_Silent_p.S135S|WDR13_uc004dkk.1_Silent_p.S43S|WDR13_uc004dkl.3_Silent_p.S43S|WDR13_uc011mme.1_Silent_p.S13S	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	135						cytoplasm|nucleus				ovary(2)	2						CCCCTGGCAGCGTGGTGCCCA	0.622												
PLXNB3	5365	broad.mit.edu	37	X	153037379	153037379	+	Silent	SNP	C	C	T			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chrX:153037379C>T	uc004fii.2	+	15	2752	c.2578C>T	c.(2578-2580)CTG>TTG	p.L860L	PLXNB3_uc011mzb.1_3'UTR|PLXNB3_uc011mzc.1_Silent_p.L542L|PLXNB3_uc010nuk.2_Silent_p.L883L|PLXNB3_uc011mzd.1_Silent_p.L499L|PLXNB3_uc004fij.1_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	860	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTCCAACCTGGGCCGGGC	0.701												
PLCB2	5330	broad.mit.edu	37	15	40583514	40583514	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr15:40583514delC	uc001zld.2	-	26	3123	c.2822delG	c.(2821-2823)GGCfs	p.G941fs	PLCB2_uc001zlc.2_5'UTR|PLCB2_uc010bbo.2_Frame_Shift_Del_p.G937fs|PLCB2_uc010ucm.1_Frame_Shift_Del_p.G926fs	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	941					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCCCCGACGCCCCCCACGCC	0.428												
RNF43	54894	broad.mit.edu	37	17	56492797	56492798	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:56492797_56492798insA	uc002iwf.2	-	1	2097_2098	c.141_142insT	c.(139-144)ATTATCfs	p.I47fs	RNF43_uc010wnv.1_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwh.3_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwg.3_Frame_Shift_Ins_p.I47fs|RNF43_uc010dcw.2_Intron	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	47_48	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCACTCTGATAATAGCTTTCT	0.505												
AP1S1	1174	broad.mit.edu	37	7	100799921	100799921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr7:100799921delA	uc003uxv.3	+	2	160	c.50delA	c.(49-51)CAAfs	p.Q17fs		NM_001283	NP_001274	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1	17					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGCGGCTGCAAAAATGGTAC	0.547												
NIPA2	81614	broad.mit.edu	37	15	23006451	23006454	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr15:23006450_23006453CCACT>C	uc001yvb.3	-	9	1708_1711	c.851_854AGTGG>G	c.(850-855)agtggcfs	p.S284fs	NIPA2_uc001yux.3_Frame_Shift_Del_p.S284fs|NIPA2_uc001yuy.3_Frame_Shift_Del_p.S284fs|NIPA2_uc001yuz.3_Frame_Shift_Del_p.S284fs|NIPA2_uc010ayb.3_Frame_Shift_Del_p.S265fs|NIPA2_uc001yva.3_Frame_Shift_Del_p.S265fs	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	284						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TGTAAAGAAGCCACTCAAAGTACC	0.368												
GLYR1	84656	broad.mit.edu	37	16	4882797	4882812	+	Frame_Shift_Del	DEL	CTGAGGAACTCTTCGA	CTGAGGAACTCTTCGA	-			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr16:4882796_4882811CCTGAGGAACTCTTCGA>C	uc002cxx.4	-	3	295_310	c.258_273TCGAAGAGTTCCTCAGG>G	c.(256-273)gtcgaagagttcctcaggfs	p.V86fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Del_p.V17fs|GLYR1_uc002cya.2_Frame_Shift_Del_p.V86fs|GLYR1_uc010uxv.1_Frame_Shift_Del_p.V86fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	86					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTTGGCTCTCCTGAGGAACTCTTCGACAGCATCTA	0.431												
RNF43	54894	broad.mit.edu	37	17	56492798	56492799	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-A4QM-01A-12D-A25D-08	TCGA-BR-A4QM-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2efeb73-85c8-4dce-bdd0-9d7010bf0a38	331ffab8-27ab-470a-886f-91f7264b8454	g.chr17:56492797_56492798T>TA	uc002iwf.3	-	0	2097_2098	c.141_142A>TA	c.(139-144)attatcfs	p.I47fs	RNF43_uc010wnv.2_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwh.4_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.I47fs|RNF43_uc010dcw.3_Intron	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	47			I -> V (in dbSNP:rs3744093).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.I48T(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCACTCTGATAATAGCTTTCT	0.505												
