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
NPHP4	261734	broad.mit.edu	37	1	5951034	5951034	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:5951034C>T	uc001alq.1	-	17	2464	c.2198G>A	c.(2197-2199)GGT>GAT	p.G733D	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	733					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGCTCACCTGGCTTCAG	0.602000												
AMY2A	279	broad.mit.edu	37	1	104160603	104160603	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:104160603A>G	uc001dut.2	+	2	260	c.196A>G	c.(196-198)ATT>GTT	p.I66V	AMY2A_uc010ouq.1_Missense_Mutation_p.I66V	NM_000699	NP_000690	P04746	AMYP_HUMAN	pancreatic amylase alpha 2A precursor	66					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			ovary(1)|skin(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	AAATGTTGCAATTTACAACCC	0.343000												
SEC22B	9554	broad.mit.edu	37	1	145112423	145112423	+	Silent	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:145112423A>C	uc001eml.1	+	6	537	c.397A>C	c.(397-399)AGA>CGA	p.R133R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	133	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						TTGTGCTCGAAGAAACCTAGG	0.413000												
HIST2H2AC	8338	broad.mit.edu	37	1	149858569	149858569	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:149858569C>T	uc001etd.2	+	1	45	c.45C>T	c.(43-45)GCC>GCT	p.A15A	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	15					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCCAAGGCCAAGTCGCGCT	0.617000												
HRNR	388697	broad.mit.edu	37	1	152191301	152191301	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:152191301T>C	uc001ezt.1	-	3	2880	c.2804A>G	c.(2803-2805)AAG>AGG	p.K935R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	935	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCTAGACTTGTGACCAAA	0.582000												
FLG	2312	broad.mit.edu	37	1	152279828	152279828	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:152279828T>G	uc001ezu.1	-	3	7570	c.7534A>C	c.(7534-7536)AGT>CGT	p.S2512R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2512	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)			CTGCTTGCACTTCTGGATCCT	0.562000									Ichthyosis			
LCE1A	353131	broad.mit.edu	37	1	152800031	152800031	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:152800031A>G	uc010pdw.1	+	1	83	c.83A>G	c.(82-84)AAG>AGG	p.K28R		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	28	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cccactcctaagtgcccccca	0.423000												
IVL	3713	broad.mit.edu	37	1	152883259	152883259	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:152883259A>G	uc001fau.2	+	2	1032	c.986A>G	c.(985-987)CAG>CGG	p.Q329R		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	329	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|18.				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctggagcagcaggaggggcaa	0.104000												
CACNA1E	777	broad.mit.edu	37	1	181620513	181620513	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:181620513T>G	uc001gow.2	+	7	1156	c.991T>G	c.(991-993)TTC>GTC	p.F331V	CACNA1E_uc009wxr.2_Missense_Mutation_p.F238V|CACNA1E_uc009wxs.2_Missense_Mutation_p.F238V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	331	I.|Helical; Name=S6 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TTGGCTGTACTTCATCCCCCT	0.428000												
LMOD1	25802	broad.mit.edu	37	1	201868803	201868803	+	Silent	SNP	G	G	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:201868803G>T	uc001gxb.2	-	2	1586	c.1338C>A	c.(1336-1338)ACC>ACA	p.T446T	LMOD1_uc010ppu.1_Silent_p.T395T	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	446				T -> S (in Ref. 1; CAA38101).	muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3						GCTTGAGCAGGGTAGTATTCT	0.567000												
SRGAP2	23380	broad.mit.edu	37	1	206592741	206592741	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:206592741C>T	uc001hdy.2	+	9	1530	c.1197C>T	c.(1195-1197)TGC>TGT	p.C399C	SRGAP2_uc010prt.1_Silent_p.C322C|SRGAP2_uc001hdx.2_Silent_p.C399C|SRGAP2_uc010pru.1_Silent_p.C322C|SRGAP2_uc010prv.1_Silent_p.C323C	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	486					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					GGACAGATTGCAGTCTAGCCA	0.512000												
ARHGAP12	94134	broad.mit.edu	37	10	32197485	32197485	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:32197485A>G	uc001ivz.1	-	3	569	c.299T>C	c.(298-300)CTT>CCT	p.L100P	ARHGAP12_uc001ivy.1_Missense_Mutation_p.L98P|ARHGAP12_uc009xls.2_Missense_Mutation_p.L98P|ARHGAP12_uc001iwb.1_Missense_Mutation_p.L98P|ARHGAP12_uc001iwc.1_Missense_Mutation_p.L98P|ARHGAP12_uc009xlq.1_Missense_Mutation_p.L98P|ARHGAP12_uc001iwd.1_Missense_Mutation_p.L98P|ARHGAP12_uc009xlr.1_Missense_Mutation_p.L98P	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	100					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				TGATCTCTGAAGATGCAAACT	0.443000												
DDX21	9188	broad.mit.edu	37	10	70733310	70733310	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:70733310T>G	uc001jov.1	+	10	1648	c.1558T>G	c.(1558-1560)TCC>GCC	p.S520A	DDX21_uc001jow.1_Missense_Mutation_p.S452A	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	520	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						GGATGTAGAGTCCTACATTCA	0.443000												
C10orf79	80217	broad.mit.edu	37	10	105967573	105967573	+	Missense_Mutation	SNP	C	C	T	rs41291844	byFrequency	TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:105967573C>T	uc001kxw.2	-	6	861	c.745G>A	c.(745-747)GAT>AAT	p.D249N	C10orf79_uc001kxx.3_Missense_Mutation_p.D249N|C10orf79_uc001kxy.1_Missense_Mutation_p.D249N|C10orf79_uc001kxz.2_Missense_Mutation_p.D249N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	249											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		GGATATAGATCATCTTTCGGC	0.408000												
SORCS3	22986	broad.mit.edu	37	10	106974370	106974370	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:106974370A>C	uc001kyi.1	+	18	2773	c.2546A>C	c.(2545-2547)GAG>GCG	p.E849A	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	849	PKD.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCATGGAGGAGGTAGGTGCT	0.567000												
ADRA2A	150	broad.mit.edu	37	10	112838845	112838845	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:112838845C>T	uc001kzo.2	+	1	2056	c.1091C>T	c.(1090-1092)CCG>CTG	p.P364L		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	349	Cytoplasmic (By similarity).			PRRGPGATGIGTPAAGPGEERVGAAKASRWRGR -> RGAG RGRRGSGRRLQGRGRSASGLPRRRAGAGG (in Ref. 1; AAA51664 and 2; AAA51665).	actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCTGCAGGGCCGGGGGAGGAG	0.657000												
ADAM12	8038	broad.mit.edu	37	10	127797193	127797193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr10:127797193C>T	uc001ljk.2	-	8	1132	c.719G>A	c.(718-720)CGA>CAA	p.R240Q	ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Missense_Mutation_p.R240Q|ADAM12_uc001ljn.2_Missense_Mutation_p.R237Q|ADAM12_uc001ljl.3_Missense_Mutation_p.R237Q	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	240	Extracellular (Potential).|Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTCTATTAATCGCTGCTTAAC	0.353000												
OR52E2	119678	broad.mit.edu	37	11	5080572	5080572	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:5080572A>C	uc010qyw.1	-	1	286	c.286T>G	c.(286-288)TTT>GTT	p.F96V		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGGCTTCAAAGATGATCCCT	0.488000												
OR52A5	390054	broad.mit.edu	37	11	5153615	5153615	+	Silent	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:5153615G>A	uc010qyx.1	-	1	258	c.258C>T	c.(256-258)ATC>ATT	p.I86I		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAACCAGAAGATGCCTAACA	0.413000												
OR51B6	390058	broad.mit.edu	37	11	5372892	5372892	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:5372892A>T	uc010qzb.1	+	1	155	c.155A>T	c.(154-156)AAC>ATC	p.N52I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGATCATAACCTCCATGAG	0.458000												
OR10A3	26496	broad.mit.edu	37	11	7960800	7960800	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:7960800T>G	uc010rbi.1	-	1	268	c.268A>C	c.(268-270)ACT>CCT	p.T90P		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAATCATAGTTTTCTCAGTA	0.458000												
MRVI1	10335	broad.mit.edu	37	11	10651144	10651144	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:10651144T>C	uc010rcc.1	-	5	901	c.515A>G	c.(514-516)GAG>GGG	p.E172G	MRVI1_uc001miw.2_Missense_Mutation_p.E163G|MRVI1_uc010rcb.1_Missense_Mutation_p.E163G|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.E81G|MRVI1_uc009ygc.1_Missense_Mutation_p.E81G|MRVI1_uc010rcd.1_Missense_Mutation_p.E172G|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	163	Interaction with PRKG1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CAGGAATCGCTCACTCACCAA	0.587000												
FOLH1	2346	broad.mit.edu	37	11	49208305	49208305	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:49208305A>C	uc001ngy.2	-	5	791	c.530T>G	c.(529-531)GTT>GGT	p.V177G	FOLH1_uc001ngz.2_Missense_Mutation_p.V177G|FOLH1_uc009yly.2_Missense_Mutation_p.V162G|FOLH1_uc009ylz.2_Missense_Mutation_p.V162G|FOLH1_uc009yma.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	177	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGCATAGTTAACATACACTAG	0.378000												
OR5T2	219464	broad.mit.edu	37	11	56000269	56000269	+	Silent	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:56000269A>G	uc010rjc.1	-	1	393	c.393T>C	c.(391-393)ATT>ATC	p.I131I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	131	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CAAGGAATGAAATGACTTTAT	0.388000												
OR5T2	219464	broad.mit.edu	37	11	56000483	56000483	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:56000483A>C	uc010rjc.1	-	1	179	c.179T>G	c.(178-180)CTT>CGT	p.L60R		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	60	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CTGCAGTTCAAGATTGTCTGT	0.373000												
FAM111A	63901	broad.mit.edu	37	11	58919526	58919526	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:58919526C>T	uc010rkp.1	+	5	612	c.385C>T	c.(385-387)CGT>TGT	p.R129C	FAM111A_uc010rkq.1_Missense_Mutation_p.R129C|FAM111A_uc010rkr.1_Missense_Mutation_p.R129C|FAM111A_uc001nno.2_Missense_Mutation_p.R129C|FAM111A_uc001nnp.2_Missense_Mutation_p.R129C|FAM111A_uc001nnq.2_Missense_Mutation_p.R129C	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	129					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				AATGCTTGTGCGTGGCACAGA	0.443000												
OR5A1	219982	broad.mit.edu	37	11	59210757	59210757	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:59210757T>C	uc001nnx.1	+	1	116	c.116T>C	c.(115-117)CTT>CCT	p.L39P		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						GGCATCTATCTTACCACCCTG	0.507000												
C11orf2	738	broad.mit.edu	37	11	64875883	64875883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:64875883G>A	uc001ocr.1	+	5	980	c.940G>A	c.(940-942)GGC>AGC	p.G314S	C11orf2_uc001ocs.1_Missense_Mutation_p.G190S	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	314					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						CTTCGTGGGCGGCCTCTGCCA	0.701000												
PDE2A	5138	broad.mit.edu	37	11	72292506	72292506	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:72292506T>G	uc010rrc.1	-	23	2183	c.1940A>C	c.(1939-1941)AAG>ACG	p.K647T	PDE2A_uc001oso.2_Missense_Mutation_p.K626T|PDE2A_uc010rra.1_Missense_Mutation_p.K640T|PDE2A_uc001osn.2_Missense_Mutation_p.K391T|PDE2A_uc010rrb.1_Missense_Mutation_p.K638T|PDE2A_uc010rrd.1_Missense_Mutation_p.K532T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	647	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GTAGCCCTTCTTCACCATCAA	0.572000												
P4HA3	283208	broad.mit.edu	37	11	73979244	73979244	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:73979244C>T	uc001ouz.2	-	12	1553	c.1510G>A	c.(1510-1512)GGG>AGG	p.G504R	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.K501K	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	504	Fe2OG dioxygenase.					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					TCACTGTCCCCTTCACCACTC	0.572000												
TRPC6	7225	broad.mit.edu	37	11	101375029	101375029	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:101375029A>C	uc001pgk.3	-	2	1096	c.671T>G	c.(670-672)ATT>AGT	p.I224S	TRPC6_uc009ywy.2_Missense_Mutation_p.I224S|TRPC6_uc009ywz.1_Missense_Mutation_p.I224S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	224	Cytoplasmic (Potential).|ANK 4.				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GGCAGCCAGAATGATTGGAGT	0.483000												
OR10G7	390265	broad.mit.edu	37	11	123908974	123908974	+	Silent	SNP	G	G	A	rs151111393		TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr11:123908974G>A	uc001pzq.1	-	1	735	c.735C>T	c.(733-735)ATC>ATT	p.I245I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAAGGACCACGATACAGTGGG	0.562000												
EFCAB4B	84766	broad.mit.edu	37	12	3768756	3768756	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:3768756T>C	uc001qmj.2	-	8	1308	c.736A>G	c.(736-738)AGT>GGT	p.S246G	EFCAB4B_uc010sen.1_Missense_Mutation_p.S246G|EFCAB4B_uc010seo.1_Missense_Mutation_p.S246G|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	246	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCCTTCTCACTTTTGATTTGT	0.289000												
CLEC4D	338339	broad.mit.edu	37	12	8672825	8672825	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:8672825T>G	uc001qun.2	+	5	581	c.388T>G	c.(388-390)TTT>GTT	p.F130V		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	130	C-type lectin.|Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)					TATGCAGAACTTTATTATTCA	0.368000												
CLEC1A	51267	broad.mit.edu	37	12	10228175	10228175	+	Silent	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:10228175A>G	uc001qxb.2	-	4	555	c.471T>C	c.(469-471)AGT>AGC	p.S157S	CLEC1A_uc009zhf.2_Silent_p.S69S|CLEC1A_uc001qxc.2_Silent_p.S69S|CLEC1A_uc001qxd.2_Silent_p.S114S|CLEC1A_uc010sgx.1_Silent_p.S55S	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	157	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						AGTCCTCCCAACTTTTGCTGT	0.393000												
CLEC1A	51267	broad.mit.edu	37	12	10233966	10233966	+	Silent	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:10233966A>G	uc001qxb.2	-	3	345	c.261T>C	c.(259-261)TCT>TCC	p.S87S	CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Silent_p.S44S|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	87	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						CTTCCATTTGAGAAATGGTGT	0.398000												
PDE3A	5139	broad.mit.edu	37	12	20833005	20833005	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:20833005A>T	uc001reh.1	+	16	3248	c.3226A>T	c.(3226-3228)ACT>TCT	p.T1076S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	1076	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGCCAAATAACTCAGCACCT	0.388000												
DENND5B	160518	broad.mit.edu	37	12	31555507	31555507	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:31555507C>A	uc001rki.1	-	15	3060	c.2874G>T	c.(2872-2874)TGG>TGT	p.W958C	DENND5B_uc001rkh.1_Missense_Mutation_p.W993C|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	958	PLAT.					integral to membrane				ovary(1)|central_nervous_system(1)	2						ATACACAGATCCAAGGGTTTG	0.398000												
LRRK2	120892	broad.mit.edu	37	12	40651103	40651103	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:40651103T>G	uc001rmg.3	+	12	1463	c.1342T>G	c.(1342-1344)TTA>GTA	p.L448V	LRRK2_uc001rmh.1_Missense_Mutation_p.L70V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	448					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTTTTGGAGTTAATGCAGAA	0.289000												
SILV	6490	broad.mit.edu	37	12	56351803	56351803	+	Silent	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:56351803G>A	uc001sip.2	-	5	566	c.535C>T	c.(535-537)CTG>TTG	p.L179L	SILV_uc001siq.2_Silent_p.L179L|SILV_uc010spx.1_Silent_p.L93L|SILV_uc001sir.2_Silent_p.L179L	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	179					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						TGTGTGCCCAGCATTGCCCTG	0.537000												
TBX5	6910	broad.mit.edu	37	12	114823305	114823305	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:114823305A>G	uc001tvo.2	-	7	1226	c.731T>C	c.(730-732)CTG>CCG	p.L244P	TBX5_uc001tvp.2_Missense_Mutation_p.L244P|TBX5_uc001tvq.2_Missense_Mutation_p.L194P|TBX5_uc010syv.1_Missense_Mutation_p.L244P	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	244					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CATTCTGTGCAGCTCCATGTC	0.463000												
SRRM4	84530	broad.mit.edu	37	12	119594441	119594441	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:119594441C>A	uc001txa.1	+	13	1966	c.1674C>A	c.(1672-1674)AGC>AGA	p.S558R		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	558	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						ggagccggagccggagacgga	0.438000												
MMP17	4326	broad.mit.edu	37	12	132325197	132325197	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr12:132325197A>G	uc001ujc.1	+	4	601	c.502A>G	c.(502-504)AGC>GGC	p.S168G	MMP17_uc001ujd.1_Missense_Mutation_p.S84G	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	168					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CAAGGTCTGGAGCGACATTGC	0.647000												
SOHLH2	54937	broad.mit.edu	37	13	36776025	36776025	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:36776025T>C	uc001uvj.2	-	2	343	c.254A>G	c.(253-255)AAG>AGG	p.K85R	SOHLH2_uc010tei.1_Missense_Mutation_p.K162R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	85					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCTAATTAACTTGATGGCTTC	0.368000												
POSTN	10631	broad.mit.edu	37	13	38156507	38156507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:38156507C>T	uc001uwo.3	-	10	1506	c.1388G>A	c.(1387-1389)CGT>CAT	p.R463H	POSTN_uc010tet.1_5'Flank|POSTN_uc001uwp.3_Missense_Mutation_p.R463H|POSTN_uc001uwr.2_Missense_Mutation_p.R463H|POSTN_uc001uwq.2_Missense_Mutation_p.R463H|POSTN_uc010teu.1_Missense_Mutation_p.R463H|POSTN_uc010tev.1_Missense_Mutation_p.R463H|POSTN_uc010tew.1_Missense_Mutation_p.R463H|POSTN_uc010tex.1_Missense_Mutation_p.R378H	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	463	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACTTACTGTACGATATACGAA	0.353000												
TRPC4	7223	broad.mit.edu	37	13	38211441	38211441	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:38211441A>G	uc001uws.2	-	11	2768	c.2533T>C	c.(2533-2535)TTT>CTT	p.F845L	TRPC4_uc010abv.2_Missense_Mutation_p.F425L|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.F672L|TRPC4_uc010abx.2_Missense_Mutation_p.F850L|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	845	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATAACCCAAAGTTTTTGATA	0.438000												
PCDH20	64881	broad.mit.edu	37	13	61986482	61986482	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:61986482A>C	uc001vid.3	-	2	2114	c.1750T>G	c.(1750-1752)TTA>GTA	p.L584V	PCDH20_uc010thj.1_Missense_Mutation_p.L584V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	557	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACACTGTCTAAGGAAAAATAT	0.453000												
COL4A1	1282	broad.mit.edu	37	13	110827648	110827648	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr13:110827648A>C	uc001vqw.3	-	37	3237	c.3115T>G	c.(3115-3117)TTA>GTA	p.L1039V	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1039	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTCCAGGTAAGCCAGGTGAA	0.537000												
OR4N4	283694	broad.mit.edu	37	15	22383054	22383054	+	Silent	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr15:22383054G>A	uc001yuc.1	+	7	1563	c.582G>A	c.(580-582)GTG>GTA	p.V194V	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.V194V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACATGTTTGTGGTGGAGCTTC	0.527000												
CSK	1445	broad.mit.edu	37	15	75093259	75093259	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr15:75093259A>G	uc010bkb.1	+	9	901	c.718A>G	c.(718-720)ATG>GTG	p.M240V	CSK_uc002ays.2_Missense_Mutation_p.M240V|CSK_uc010bkc.1_Missense_Mutation_p.M49V	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	240	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						AGCCTCAGTCATGACGTGAGT	0.612000												
SEMA4B	10509	broad.mit.edu	37	15	90770838	90770838	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr15:90770838G>A	uc002boy.2	+	14	2021	c.1738G>A	c.(1738-1740)GCG>ACG	p.A580T	SEMA4B_uc002boz.2_Missense_Mutation_p.A580T|SEMA4B_uc010uqd.1_Missense_Mutation_p.A418T|SEMA4B_uc002bpa.2_Missense_Mutation_p.A418T|SEMA4B_uc010bnv.1_Missense_Mutation_p.A218T	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCTTTGCAGCGCGTCTTCGGT	0.607000												
BTBD12	84464	broad.mit.edu	37	16	3640167	3640167	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:3640167C>T	uc002cvp.2	-	12	4099	c.3472G>A	c.(3472-3474)GAT>AAT	p.D1158N		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1158	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AGCTCCTCATCCGAGTCCAGT	0.448000								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:18937330T>C	uc002dfm.2	-	1	397	c.34A>G	c.(34-36)AGC>GGC	p.S12G		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ccgccgccgctgcTCAGCCGA	0.627000												
DNAH3	55567	broad.mit.edu	37	16	21060984	21060984	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:21060984G>T	uc010vbe.1	-	31	4367	c.4367C>A	c.(4366-4368)TCC>TAC	p.S1456Y		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1456	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CAAACCATCGGAGCAGTTGAA	0.507000												
GTF3C1	2975	broad.mit.edu	37	16	27473757	27473757	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:27473757C>A	uc002dov.1	-	36	6015	c.5975G>T	c.(5974-5976)GGC>GTC	p.G1992V	GTF3C1_uc002dou.2_Missense_Mutation_p.G1967V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1992						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GTTCAGGTGGCCATCCACGAC	0.627000												
ZNF785	146540	broad.mit.edu	37	16	30594001	30594001	+	Silent	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:30594001G>A	uc002dyw.1	-	3	1176	c.1098C>T	c.(1096-1098)AGC>AGT	p.S366S	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.S351S|ZNF785_uc010vez.1_Silent_p.S331S	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGCGCCTCTCGCTGCAGGAGC	0.642000												
MYST1	84148	broad.mit.edu	37	16	31129170	31129170	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:31129170G>C	uc002eay.2	+	1	186	c.168G>C	c.(166-168)GAG>GAC	p.E56D	MYST1_uc002eax.2_Missense_Mutation_p.E56D	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	56					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						TCACGGTGGAGATCGGAGAAA	0.517000												
VAT1L	57687	broad.mit.edu	37	16	77913091	77913091	+	Silent	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:77913091G>A	uc002ffg.1	+	6	949	c.852G>A	c.(850-852)GAG>GAA	p.E284E		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	284							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						TAACTGGAGAGACCAAGAGCT	0.378000												
PLCG2	5336	broad.mit.edu	37	16	81922830	81922830	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:81922830T>G	uc002fgt.2	+	10	971	c.819T>G	c.(817-819)ATT>ATG	p.I273M	PLCG2_uc010chg.1_Missense_Mutation_p.I273M	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	273					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CAAAGTTCATTGATGACACCA	0.458000												
SPIRE2	84501	broad.mit.edu	37	16	89916733	89916733	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr16:89916733G>A	uc002foz.1	+	3	362	c.310G>A	c.(310-312)GCC>ACC	p.A104T	SPIRE2_uc010civ.1_Missense_Mutation_p.A19T|SPIRE2_uc010ciw.1_Missense_Mutation_p.A104T|SPIRE2_uc002fpa.1_Missense_Mutation_p.A56T|SPIRE2_uc010cix.1_5'UTR	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	104	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCTCGGCTTCGCCATCTACCG	0.701000												
TSR1	55720	broad.mit.edu	37	17	2235606	2235606	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:2235606C>T	uc002fuj.2	-	8	2310	c.1353G>A	c.(1351-1353)GGG>GGA	p.G451G	SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	451	Glu-rich.				ribosome assembly	nucleolus	protein binding			ovary(1)	1						GCACAGACTCCCCAATAGTCA	0.373000												
TP53	7157	broad.mit.edu	37	17	7579414	7579414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:7579414C>T	uc002gim.2	-	4	467	c.273G>A	c.(271-273)TGG>TGA	p.W91*	TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.2_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGACAGGGGCCAGGAGGGGG	0.627000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYH13	8735	broad.mit.edu	37	17	10215932	10215932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:10215932C>T	uc002gmk.1	-	31	4414	c.4324G>A	c.(4324-4326)GCC>ACC	p.A1442T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1442	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GTGGCACAGGCGGTGTGGGAG	0.557000												
DNAH9	1770	broad.mit.edu	37	17	11687713	11687713	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:11687713T>G	uc002gne.2	+	41	7986	c.7918T>G	c.(7918-7920)TTC>GTC	p.F2640V	DNAH9_uc010coo.2_Missense_Mutation_p.F1934V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2640	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTCGGAAACTTCCCGGCGTC	0.547000												
UTP6	55813	broad.mit.edu	37	17	30205307	30205307	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:30205307C>G	uc002hgr.2	-	13	1170	c.1087G>C	c.(1087-1089)GAA>CAA	p.E363Q	UTP6_uc002hgq.2_Missense_Mutation_p.E179Q|UTP6_uc010cst.2_Missense_Mutation_p.E212Q	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	363					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGCTTCAGTTCATGTGCCTTC	0.423000												
SDK2	54549	broad.mit.edu	37	17	71361524	71361524	+	Silent	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr17:71361524A>G	uc010dfm.2	-	38	5178	c.5178T>C	c.(5176-5178)GCT>GCC	p.A1726A	SDK2_uc002jjt.3_Silent_p.A866A|SDK2_uc010dfn.2_Silent_p.A1405A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1726	Extracellular (Potential).|Fibronectin type-III 12.				cell adhesion	integral to membrane				ovary(2)	2						CCGAGCTGGGAGCGCTGGGGG	0.577000												
DLGAP1	9229	broad.mit.edu	37	18	3729300	3729300	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr18:3729300C>T	uc002kmf.2	-	4	1493	c.1426G>A	c.(1426-1428)GTG>ATG	p.V476M	DLGAP1_uc010wyz.1_Missense_Mutation_p.V476M|DLGAP1_uc002kme.1_Missense_Mutation_p.V174M|DLGAP1_uc010dkn.2_Missense_Mutation_p.V174M|DLGAP1_uc010wyw.1_Missense_Mutation_p.V182M|DLGAP1_uc010wyx.1_Missense_Mutation_p.V188M|DLGAP1_uc010wyy.1_Missense_Mutation_p.V188M|DLGAP1_uc002kmg.2_Missense_Mutation_p.V174M|DLGAP1_uc002kmk.2_Missense_Mutation_p.V476M	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	476					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				AGCGCTTCCACGGCCTGCGAC	0.642000												
SERPINB7	8710	broad.mit.edu	37	18	61465873	61465873	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr18:61465873A>G	uc002ljl.2	+	6	586	c.490A>G	c.(490-492)AGC>GGC	p.S164G	SERPINB7_uc002ljm.2_Missense_Mutation_p.S164G|SERPINB7_uc010xet.1_Missense_Mutation_p.S147G|SERPINB7_uc010dqg.2_Missense_Mutation_p.S164G	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	164					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				AGGTGGCATAAGCTCATCTGC	0.338000												
PTPRS	5802	broad.mit.edu	37	19	5221118	5221118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:5221118C>T	uc002mbv.2	-	20	3582	c.3348G>A	c.(3346-3348)TGG>TGA	p.W1116*	PTPRS_uc002mbu.1_Nonsense_Mutation_p.W685*|PTPRS_uc010xin.1_Nonsense_Mutation_p.W685*|PTPRS_uc002mbw.2_Nonsense_Mutation_p.W1094*|PTPRS_uc002mbx.2_Nonsense_Mutation_p.W689*|PTPRS_uc002mby.2_Nonsense_Mutation_p.W685*	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1116	Extracellular (Potential).|Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGAAGGCAGTCCAGGCGGTGA	0.622000												
XAB2	56949	broad.mit.edu	37	19	7689226	7689226	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:7689226T>C	uc002mgx.2	-	7	954	c.928A>G	c.(928-930)AAG>GAG	p.K310E		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	310					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GTCTCCATCTTTGCAGCGATC	0.642000								Direct_reversal_of_damage|NER				
TMED1	11018	broad.mit.edu	37	19	10943724	10943724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:10943724G>A	uc002mpy.2	-	4	747	c.631C>T	c.(631-633)CAG>TAG	p.Q211*	DNM2_uc002mpx.1_3'UTR	NM_006858	NP_006849	Q13445	TMED1_HUMAN	interleukin 1 receptor-like 1 ligand precursor	211	Helical; (Potential).				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GTGCAGACCTGCAGCACAGCC	0.632000												
ZNF208	7757	broad.mit.edu	37	19	22170054	22170054	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:22170054T>G	uc002nqp.2	-	3	339	c.190A>C	c.(190-192)AAT>CAT	p.N64H	ZNF208_uc002nqo.1_Missense_Mutation_p.N64H|ZNF208_uc002nqq.2_RNA	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCTTCATATTCCAGGACTCT	0.423000												
ZNF98	148198	broad.mit.edu	37	19	22586215	22586215	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:22586215C>T	uc002nqt.2	-	2	252	c.130G>A	c.(130-132)GAG>AAG	p.E44K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTGTAGTTCTCTAACATCACA	0.388000												
PAFAH1B3	5050	broad.mit.edu	37	19	42801375	42801375	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:42801375G>C	uc002otg.2	-	5	886	c.551C>G	c.(550-552)ACC>AGC	p.T184S	PAFAH1B3_uc010xwi.1_Missense_Mutation_p.T184S|PAFAH1B3_uc010xwj.1_Missense_Mutation_p.T184S	NM_002573	NP_002564	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase,	184					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding				0		Prostate(69;0.0704)				ATGGCTGATGGTGCCATCTGA	0.607000												
SIGLEC6	946	broad.mit.edu	37	19	52034441	52034441	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:52034441A>G	uc002pwy.2	-	2	562	c.400T>C	c.(400-402)TCT>CCT	p.S134P	SIGLEC6_uc002pwz.2_Missense_Mutation_p.S134P|SIGLEC6_uc002pxa.2_Missense_Mutation_p.S134P|SIGLEC6_uc010ydb.1_Missense_Mutation_p.S87P|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S123P|SIGLEC6_uc010eoz.1_Missense_Mutation_p.S123P|SIGLEC6_uc010epb.1_Missense_Mutation_p.S87P|SIGLEC6_uc010epa.1_Missense_Mutation_p.S123P	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	134	Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGCTTGGAAGATGTATAACCG	0.552000												
KIR2DS4	3809	broad.mit.edu	37	19	55349043	55349043	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:55349043A>T	uc002qhm.1	+	3	129	c.83A>T	c.(82-84)AAA>ATA	p.K28I	KIR2DS4_uc010yfj.1_Missense_Mutation_p.K21I|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.K28I|KIR2DS4_uc002qhn.1_5'UTR	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	28	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		GTCCACAGAAAACCTTCCTTC	0.507000												
ZNF471	57573	broad.mit.edu	37	19	57027765	57027765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:57027765C>T	uc002qnh.2	+	3	288	c.155C>T	c.(154-156)TCA>TTA	p.S52L		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGCCTGGTATCACTTGGTGAG	0.378000												
ZNF416	55659	broad.mit.edu	37	19	58084403	58084403	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:58084403C>G	uc002qpf.2	-	4	1040	c.869G>C	c.(868-870)AGA>ACA	p.R290T	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	290	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AGTGTGGATTCTCCGATGATC	0.458000												
ZNF446	55663	broad.mit.edu	37	19	58989171	58989171	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:58989171C>T	uc002qsz.2	+	3	627	c.510C>T	c.(508-510)CCC>CCT	p.P170P	ZNF446_uc002qta.2_Silent_p.P170P|ZNF446_uc010eur.2_Silent_p.P170P	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	170					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGAGGAGCCCAATGTCGATG	0.622000												
MYT1L	23040	broad.mit.edu	37	2	1893197	1893197	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:1893197T>G	uc002qxe.2	-	16	3163	c.2336A>C	c.(2335-2337)AAG>ACG	p.K779T	MYT1L_uc002qxd.2_Missense_Mutation_p.K777T|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	779					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGGCCTCTGCTTGTTCATGCT	0.602000												
LTBP1	4052	broad.mit.edu	37	2	33500954	33500954	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:33500954A>G	uc002ros.2	+	18	2959	c.2959A>G	c.(2959-2961)AGC>GGC	p.S987G	LTBP1_uc002rot.2_Missense_Mutation_p.S661G|LTBP1_uc002rou.2_Missense_Mutation_p.S660G|LTBP1_uc002rov.2_Missense_Mutation_p.S607G|LTBP1_uc010ymz.1_Missense_Mutation_p.S660G|LTBP1_uc010yna.1_Missense_Mutation_p.S607G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	986	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATACTGTGACAGCGGGTACCG	0.577000												
SNRPG	6637	broad.mit.edu	37	2	70520772	70520772	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:70520772C>A	uc002sgp.2	-	1	98	c.10G>T	c.(10-12)GCT>TCT	p.A4S	SNRPG_uc002sgo.2_5'Flank	NM_003096	NP_003087	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	4					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0						GGAGGGTGAGCTTTGCTCATG	0.572000												
EIF2AK3	9451	broad.mit.edu	37	2	88888295	88888295	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:88888295T>G	uc002stc.3	-	7	1492	c.1290A>C	c.(1288-1290)AAA>AAC	p.K430N		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	430	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AGGGTTTCCATTTGATTGTTG	0.363000												
NEB	4703	broad.mit.edu	37	2	152522764	152522764	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:152522764T>G	uc010fnx.2	-	41	5062	c.4871A>C	c.(4870-4872)AAG>ACG	p.K1624T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1624					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGTGGTACTTGGTCTTGCT	0.473000												
XIRP2	129446	broad.mit.edu	37	2	168103939	168103939	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:168103939A>T	uc002udx.2	+	8	6055	c.6037A>T	c.(6037-6039)AGA>TGA	p.R2013*	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1838*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.R1791*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1838					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGTAGAAGAAAGAACTGAGGT	0.448000												
TTN	7273	broad.mit.edu	37	2	179584017	179584017	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:179584017T>G	uc010zfg.1	-	80	20592	c.20368A>C	c.(20368-20370)AGC>CGC	p.S6790R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3451R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7717							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)			TCCGAAAAGCTGGACTGACAT	0.502000												
ERBB4	2066	broad.mit.edu	37	2	212248447	212248447	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:212248447T>A	uc002veg.1	-	28	3918	c.3820A>T	c.(3820-3822)ATC>TTC	p.I1274F	ERBB4_uc002veh.1_Missense_Mutation_p.I1258F|ERBB4_uc010zji.1_Missense_Mutation_p.I1264F|ERBB4_uc010zjj.1_Missense_Mutation_p.I1248F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1274	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATAGGCCGGATCCGCCCATTC	0.527000										TSP Lung(8;0.080)		
PAX3	5077	broad.mit.edu	37	2	223158949	223158949	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:223158949T>C	uc010fwo.2	-	4	889	c.523A>G	c.(523-525)AAG>GAG	p.K175E	PAX3_uc002vmt.1_Missense_Mutation_p.K175E|PAX3_uc002vmy.1_Missense_Mutation_p.K174E|PAX3_uc002vmv.1_Missense_Mutation_p.K175E|PAX3_uc002vmw.1_Missense_Mutation_p.K175E|PAX3_uc002vmx.1_Missense_Mutation_p.K175E|PAX3_uc002vmz.1_Missense_Mutation_p.K175E|PAX3_uc002vna.1_Missense_Mutation_p.K175E	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	175					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGCCTCCTTCCTCTCCAAG	0.602000			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
AGFG1	3267	broad.mit.edu	37	2	228416831	228416831	+	Missense_Mutation	SNP	A	A	C	rs150263079		TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:228416831A>C	uc002vpc.2	+	11	1785	c.1535A>C	c.(1534-1536)AAT>ACT	p.N512T	AGFG1_uc002vpd.2_Missense_Mutation_p.N536T|AGFG1_uc002vpe.2_Missense_Mutation_p.N512T|AGFG1_uc002vpf.2_Missense_Mutation_p.N472T	NM_004504	NP_004495	P52594	AGFG1_HUMAN	HIV-1 Rev binding protein isoform 2	512					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CAACAGCCCAATGGTAAGATC	0.438000												
PRND	23627	broad.mit.edu	37	20	4705530	4705530	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:4705530C>T	uc002wkz.2	+	2	404	c.333C>T	c.(331-333)GCC>GCT	p.A111A		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	111	Globular.				protein homooligomerization	anchored to membrane|plasma membrane					0						GCATCAATGCCACCCAGGCGG	0.597000												
BPIL3	128859	broad.mit.edu	37	20	31623461	31623461	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:31623461A>C	uc010zuc.1	+	6	560	c.560A>C	c.(559-561)AAG>ACG	p.K187T	BPIL3_uc010zud.1_Missense_Mutation_p.K126T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	187						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						GTGAACAGGAAGTGGACCAAC	0.547000												
PABPC1L	80336	broad.mit.edu	37	20	43552831	43552831	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:43552831C>T	uc010ggv.1	+	7	988	c.906C>T	c.(904-906)GAC>GAT	p.D302D	PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	302	RRM 4.						nucleotide binding|RNA binding			ovary(1)	1						AGAATCTGGACGACTCCATTG	0.542000												
CASS4	57091	broad.mit.edu	37	20	55027331	55027331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:55027331G>A	uc002xxp.2	+	6	1324	c.1099G>A	c.(1099-1101)GAG>AAG	p.E367K	CASS4_uc002xxq.3_Missense_Mutation_p.E367K|CASS4_uc002xxr.2_Missense_Mutation_p.E367K|CASS4_uc010zze.1_Missense_Mutation_p.E313K|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	367					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GAAGGAGCTGGAGAAAGCCAA	0.507000												
MYT1	4661	broad.mit.edu	37	20	62848549	62848549	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr20:62848549C>T	uc002yii.2	+	11	2125	c.1761C>T	c.(1759-1761)TAC>TAT	p.Y587Y	MYT1_uc002yih.2_Silent_p.Y289Y|MYT1_uc002yij.2_Silent_p.Y219Y	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	587					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCTTTGACTACGCAAGTTTCG	0.542000												
ADAMTS1	9510	broad.mit.edu	37	21	28216851	28216851	+	Silent	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr21:28216851G>A	uc002ymf.2	-	1	878	c.423C>T	c.(421-423)CTC>CTT	p.L141L		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	141					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		CGCCCTCGCAGAGGCTGAGGG	0.716000											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SUSD2	56241	broad.mit.edu	37	22	24582117	24582117	+	Silent	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:24582117G>A	uc002zzn.1	+	9	1517	c.1473G>A	c.(1471-1473)ACG>ACA	p.T491T		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	491	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGCCCGGGACGATGTCCAACG	0.662000												
SF3A1	10291	broad.mit.edu	37	22	30731741	30731741	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:30731741C>T	uc003ahl.2	-	14	2240	c.2108G>A	c.(2107-2109)GGT>GAT	p.G703D		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	703					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						GGACACTGGACCCTACAAAAC	0.537000												
TNFRSF13C	115650	broad.mit.edu	37	22	42322215	42322215	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:42322215C>T	uc003bbl.2	-	2	301	c.257G>A	c.(256-258)GGC>GAC	p.G86D	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.G87D	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	BAFF receptor	86	Helical; Signal-anchor for type III membrane protein; (Potential).					integral to membrane	receptor activity				0						cagtgccaggcccagcAGCGC	0.657000												
PRR5	55615	broad.mit.edu	37	22	45132666	45132666	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:45132666C>T	uc003bfb.1	+	8	978	c.706C>T	c.(706-708)CGC>TGC	p.R236C	PRR5_uc003bew.1_Missense_Mutation_p.R227C|PRR5_uc003bex.1_Missense_Mutation_p.R141C|PRR5_uc010gzt.1_Missense_Mutation_p.R259C|PRR5_uc010gzu.1_Missense_Mutation_p.R200C|PRR5_uc003bey.1_Missense_Mutation_p.R227C|PRR5_uc003bez.1_Missense_Mutation_p.R141C|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R129C|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R135C	NM_181333	NP_851850	P85299	PRR5_HUMAN	proline rich 5 (renal) isoform 1	236					cell cycle					skin(1)	1		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCGCCTCCTCCGCCGCTCCCG	0.677000												
CELSR1	9620	broad.mit.edu	37	22	46776852	46776852	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr22:46776852C>T	uc003bhw.1	-	22	7089	c.7089G>A	c.(7087-7089)CGG>CGA	p.R2363R	CELSR1_uc011arc.1_Silent_p.R684R	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2363	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTGAGGCAACCTGAGGTCAA	0.592000												
ATG7	10533	broad.mit.edu	37	3	11348463	11348463	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:11348463T>G	uc003bwc.2	+	4	379	c.262T>G	c.(262-264)TAT>GAT	p.Y88D	ATG7_uc003bwd.2_Missense_Mutation_p.Y88D|ATG7_uc011aum.1_Missense_Mutation_p.Y88D	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	88					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						TGGAACACTGTATAACACCAA	0.498000												
OR5AC2	81050	broad.mit.edu	37	3	97806523	97806523	+	Silent	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:97806523T>G	uc011bgs.1	+	1	507	c.507T>G	c.(505-507)ACT>ACG	p.T169T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGCGACTAACTTTCTGCAGGT	0.338000												
POLQ	10721	broad.mit.edu	37	3	121255950	121255950	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:121255950G>A	uc003eee.3	-	5	866	c.737C>T	c.(736-738)TCT>TTT	p.S246F		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	246	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TACTTACCAAGATGCTGATTT	0.388000								DNA_polymerases_(catalytic_subunits)				
ASTE1	28990	broad.mit.edu	37	3	130743848	130743848	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:130743848C>A	uc003env.1	-	3	745	c.303G>T	c.(301-303)CAG>CAT	p.Q101H	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.Q101H|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	101					DNA repair		nuclease activity				0						AATGGGCCATCTGGATCTTCT	0.418000												
CLSTN2	64084	broad.mit.edu	37	3	140277549	140277549	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:140277549A>T	uc003etn.2	+	12	2081	c.1891A>T	c.(1891-1893)ATC>TTC	p.I631F		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	631	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CCTCCAGGCCATCGAGCCCCG	0.552000										HNSCC(16;0.037)		
NAALADL2	254827	broad.mit.edu	37	3	174814732	174814732	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:174814732C>A	uc003fit.2	+	2	283	c.196C>A	c.(196-198)CTA>ATA	p.L66I	NAALADL2_uc003fiu.1_Missense_Mutation_p.L59I	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	66	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAATTCCAGCTAGACGGTGC	0.468000												
SLIT2	9353	broad.mit.edu	37	4	20597367	20597367	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:20597367T>G	uc003gpr.1	+	31	3434	c.3230T>G	c.(3229-3231)TTT>TGT	p.F1077C	SLIT2_uc003gps.1_Missense_Mutation_p.F1069C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1077	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						GACATCGATTTTGACGACTGC	0.473000												
NSUN7	79730	broad.mit.edu	37	4	40752722	40752722	+	Silent	SNP	C	C	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:40752722C>G	uc003gvj.3	+	2	507	c.12C>G	c.(10-12)TCC>TCG	p.S4S	NSUN7_uc003gvh.2_Silent_p.S4S|NSUN7_uc003gvi.3_Silent_p.S4S	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						TGCTGAATTCCACGGGCGAAC	0.562000												
GABRA4	2557	broad.mit.edu	37	4	46967016	46967016	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:46967016T>C	uc003gxg.2	-	8	1244	c.1105A>G	c.(1105-1107)AGA>GGA	p.R369G		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	369	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCTTCTCTCTCTGCACTGGA	0.428000												
ATP10D	57205	broad.mit.edu	37	4	47574206	47574206	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:47574206G>T	uc003gxk.1	+	17	3363	c.3199G>T	c.(3199-3201)GCA>TCA	p.A1067S	ATP10D_uc003gxl.1_Missense_Mutation_p.A315S	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1067	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GATACAAGTGGCAGACATTGG	0.468000												
OCIAD2	132299	broad.mit.edu	37	4	48894870	48894870	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:48894870G>A	uc003gyt.2	-	6	505	c.302C>T	c.(301-303)TCA>TTA	p.S101L	OCIAD2_uc003gyu.2_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	101	OCIA.					endosome					0						TCCTATGTATGATACCTTTCC	0.408000												
ODAM	54959	broad.mit.edu	37	4	71063822	71063822	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:71063822T>G	uc003hfc.2	+	4	340	c.323T>G	c.(322-324)GTT>GGT	p.V108G		NM_017855	NP_060325	A1E959	ODAM_HUMAN	odontogenic ameloblast-associated protein	108	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				ovary(3)|large_intestine(1)	4						GCAGGCCAAGTTGATCCCTTA	0.507000												
MOBKL1A	92597	broad.mit.edu	37	4	71844993	71844993	+	Silent	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:71844993T>C	uc003hfw.2	+	5	748	c.558T>C	c.(556-558)TTT>TTC	p.F186F	MOBKL1A_uc011cba.1_Silent_p.F191F	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	MOB1, Mps One Binder kinase activator-like 1A	186					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding				0		all_hematologic(202;0.21)	Lung(101;0.235)			TCAAGCACTTTATTTTTTTTG	0.393000												
AGXT2L1	64850	broad.mit.edu	37	4	109667632	109667632	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:109667632A>C	uc003hzc.2	-	11	1407	c.1226T>G	c.(1225-1227)CTT>CGT	p.L409R	AGXT2L1_uc010imc.2_Missense_Mutation_p.L403R|AGXT2L1_uc011cfm.1_Missense_Mutation_p.L369R|AGXT2L1_uc011cfn.1_Missense_Mutation_p.L336R|AGXT2L1_uc011cfo.1_Missense_Mutation_p.L351R	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	409					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TTTTATTTTAAGTACATTTCT	0.388000												
ODZ3	55714	broad.mit.edu	37	4	183714423	183714423	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr4:183714423A>G	uc003ivd.1	+	25	6635	c.6598A>G	c.(6598-6600)AGG>GGG	p.R2200G		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2200	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCTACGTCAAAGGGGCACGGA	0.507000												
ADAMTS12	81792	broad.mit.edu	37	5	33637847	33637847	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr5:33637847T>C	uc003jia.1	-	12	1886	c.1723A>G	c.(1723-1725)AAG>GAG	p.K575E	ADAMTS12_uc010iuq.1_Missense_Mutation_p.K575E	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	575	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CCTCCAAACTTTGGCCTGCAA	0.463000										HNSCC(64;0.19)		
PCDHA10	56139	broad.mit.edu	37	5	140237357	140237357	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr5:140237357C>A	uc003lhx.2	+	1	1724	c.1724C>A	c.(1723-1725)GCA>GAA	p.A575E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A575E	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	575	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGCGGTGCAGTCAGTGAG	0.662000												
ADAM19	8728	broad.mit.edu	37	5	156907962	156907962	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr5:156907962T>G	uc003lwz.2	-	23	2816	c.2752A>C	c.(2752-2754)ATC>CTC	p.I918L	ADAM19_uc003lww.1_Intron|ADAM19_uc003lwy.2_Intron	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	Error:Variant_position_missing_in_Q9H013_after_alignment					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGTCTAGATTTTCGAGCTA	0.517000												
HIST1H4C	8364	broad.mit.edu	37	6	26104229	26104229	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:26104229C>T	uc003ngi.2	+	1	54	c.54C>T	c.(52-54)CGC>CGT	p.R18R		NM_003542	NP_003533	P62805	H4_HUMAN	histone cluster 1, H4c	18					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0						GTGCTAAGCGCCATCGTAAGG	0.532000												
TNXB	7148	broad.mit.edu	37	6	32049829	32049829	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:32049829C>T	uc003nzl.2	-	9	3922	c.3720G>A	c.(3718-3720)ACG>ACA	p.T1240T		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1327	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TGCCATCGGCCGTGAGGGGGC	0.582000												
TDRD6	221400	broad.mit.edu	37	6	46658993	46658993	+	Missense_Mutation	SNP	A	A	G	rs138212613		TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:46658993A>G	uc003oyj.2	+	1	3128	c.3128A>G	c.(3127-3129)AAG>AGG	p.K1043R	TDRD6_uc010jze.2_Missense_Mutation_p.K1037R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1043	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TGCCTTGCCAAGTATACTGAT	0.338000												
COL12A1	1303	broad.mit.edu	37	6	75797366	75797366	+	Silent	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:75797366T>C	uc003phs.2	-	65	9274	c.9108A>G	c.(9106-9108)GGA>GGG	p.G3036G	COL12A1_uc003pht.2_Silent_p.G1872G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3036	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GACCTGGGGGTCCTCGGATAC	0.577000												
SYNE1	23345	broad.mit.edu	37	6	152651681	152651681	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:152651681T>G	uc010kiw.2	-	78	14741	c.14139A>C	c.(14137-14139)CAA>CAC	p.Q4713H	SYNE1_uc003qot.3_Missense_Mutation_p.Q4642H|SYNE1_uc003qou.3_Missense_Mutation_p.Q4713H|SYNE1_uc010kiz.2_Missense_Mutation_p.Q468H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4713	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAACCATCTTGCAGAGAAA	0.532000										HNSCC(10;0.0054)		
VIP	7432	broad.mit.edu	37	6	153075391	153075391	+	Silent	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:153075391T>C	uc003qpe.2	+	3	370	c.198T>C	c.(196-198)GCT>GCC	p.A66A	VIP_uc003qpf.2_Silent_p.A66A|VIP_uc010kjd.2_Silent_p.A66A	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	66					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ATGCATTAGCTGAAAATGACA	0.338000												
THBS2	7058	broad.mit.edu	37	6	169623453	169623453	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr6:169623453A>T	uc003qwt.2	-	19	3139	c.2891T>A	c.(2890-2892)ATG>AAG	p.M964K		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	964	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAGGGGACCATCTGGAAGTT	0.483000												
C7orf42	55069	broad.mit.edu	37	7	66413649	66413649	+	Silent	SNP	C	C	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:66413649C>A	uc003tvk.2	+	4	828	c.564C>A	c.(562-564)CTC>CTA	p.L188L	C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Silent_p.L188L	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	188	Helical; (Potential).					integral to membrane				ovary(1)	1						GCATGACCCTCACGGCCAGCC	0.592000												
PCLO	27445	broad.mit.edu	37	7	82784787	82784787	+	Silent	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:82784787A>G	uc003uhx.2	-	2	1459	c.1170T>C	c.(1168-1170)GCT>GCC	p.A390A	PCLO_uc003uhv.2_Silent_p.A390A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCTGAGCTAAAGCCTTTGGCC	0.587000												
GRM3	2913	broad.mit.edu	37	7	86416183	86416183	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:86416183T>C	uc003uid.2	+	3	2174	c.1075T>C	c.(1075-1077)TTT>CTT	p.F359L	GRM3_uc010lef.2_Missense_Mutation_p.F357L|GRM3_uc010leg.2_Missense_Mutation_p.F231L|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	359	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGAGCAAAAGTTTCAGTGCAG	0.582000												
GRM3	2913	broad.mit.edu	37	7	86416411	86416411	+	Silent	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:86416411T>C	uc003uid.2	+	3	2402	c.1303T>C	c.(1303-1305)TTG>CTG	p.L435L	GRM3_uc010lef.2_Silent_p.L433L|GRM3_uc010leg.2_Silent_p.L307L|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	435	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAGGATTACTTGCTGAAAAT	0.433000												
KIAA1324L	222223	broad.mit.edu	37	7	86539267	86539267	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:86539267T>G	uc011kha.1	-	16	2405	c.2220A>C	c.(2218-2220)AAA>AAC	p.K740N	KIAA1324L_uc003uif.1_Missense_Mutation_p.K500N|KIAA1324L_uc011kgz.1_Missense_Mutation_p.K626N|KIAA1324L_uc003uie.2_Missense_Mutation_p.K573N	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	740	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					CCACTATTTCTTTTACTGTAA	0.378000												
ABCB4	5244	broad.mit.edu	37	7	87080948	87080948	+	Silent	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:87080948A>C	uc003uiv.1	-	7	775	c.699T>G	c.(697-699)GTT>GTG	p.V233V	ABCB4_uc003uiw.1_Silent_p.V233V|ABCB4_uc003uix.1_Silent_p.V233V	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	233	Helical; (By similarity).|ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCTTTGCCCAAACGGCTGCAG	0.458000												
ADAM22	53616	broad.mit.edu	37	7	87808319	87808319	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:87808319C>T	uc003ujn.2	+	27	2449	c.2370C>T	c.(2368-2370)CCC>CCT	p.P790P	ADAM22_uc003ujk.1_Silent_p.P790P|ADAM22_uc003ujl.1_Intron|ADAM22_uc003ujm.2_Intron|ADAM22_uc003ujo.2_Intron|ADAM22_uc003ujp.1_Silent_p.P842P	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	790	Cytoplasmic (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACATTCCTCCCGGAGTCAGCA	0.408000												
ZNF804B	219578	broad.mit.edu	37	7	88965208	88965208	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:88965208G>T	uc011khi.1	+	4	3450	c.2912G>T	c.(2911-2913)GGC>GTC	p.G971V		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	971						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCACCATCAGGCTGTAACAGA	0.408000										HNSCC(36;0.09)		
PIK3CG	5294	broad.mit.edu	37	7	106508733	106508733	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:106508733G>A	uc003vdv.3	+	2	812	c.727G>A	c.(727-729)GCC>ACC	p.A243T	PIK3CG_uc003vdu.2_Missense_Mutation_p.A243T|PIK3CG_uc003vdw.2_Missense_Mutation_p.A243T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	243					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CACCCCCGGCGCCATCCTGCA	0.532000												
CFTR	1080	broad.mit.edu	37	7	117246774	117246774	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:117246774C>T	uc003vjd.2	+	18	3087	c.2955C>T	c.(2953-2955)GAC>GAT	p.D985D	CFTR_uc011knq.1_Silent_p.D391D	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	985	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTTGGATGACCTTCTGCCTC	0.284000									Cystic_Fibrosis			
PLXNA4	91584	broad.mit.edu	37	7	131864619	131864619	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:131864619A>C	uc003vra.3	-	20	3930	c.3701T>G	c.(3700-3702)CTC>CGC	p.L1234R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1234	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGGCAGGCTGAGCGGGCTGTC	0.637000												
KIAA1549	57670	broad.mit.edu	37	7	138546176	138546176	+	Silent	SNP	C	C	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:138546176C>G	uc011kql.1	-	16	5005	c.4956G>C	c.(4954-4956)GTG>GTC	p.V1652V	KIAA1549_uc011kqi.1_Silent_p.V436V|KIAA1549_uc003vuk.3_Silent_p.V1602V|KIAA1549_uc011kqj.1_Silent_p.V1652V|KIAA1549_uc011kqk.1_Silent_p.V436V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1652						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						ATGGTGTCTGCACATCGGCTG	0.552000			O	BRAF	pilocytic astrocytoma							
CNTNAP2	26047	broad.mit.edu	37	7	147869394	147869394	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:147869394T>G	uc003weu.1	+	18	3350	c.2834T>G	c.(2833-2835)GTG>GGG	p.V945G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	945	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGAATGGGGTGACACTTGAC	0.552000										HNSCC(39;0.1)		
CUL1	8454	broad.mit.edu	37	7	148427251	148427251	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr7:148427251A>C	uc010lpg.2	+	2	563	c.37A>C	c.(37-39)AAG>CAG	p.K13Q	CUL1_uc003wey.2_Missense_Mutation_p.K13Q|CUL1_uc003wez.2_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	13					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCACGGCCTGAAGCAGATTGG	0.542000												
CSMD1	64478	broad.mit.edu	37	8	2820840	2820840	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:2820840T>G	uc011kwk.1	-	60	9751	c.9361A>C	c.(9361-9363)AGT>CGT	p.S3121R	CSMD1_uc011kwj.1_Missense_Mutation_p.S2450R|CSMD1_uc010lrg.2_Missense_Mutation_p.S1012R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3121	Sushi 25.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGCTGTAACTTATGCTGGAG	0.562000												
ZMAT4	79698	broad.mit.edu	37	8	40532429	40532429	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:40532429T>C	uc003xnr.2	-	5	517	c.371A>G	c.(370-372)AAG>AGG	p.K124R	ZMAT4_uc003xns.2_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	124						nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCGTGGGGGCTTAAGTGGGCT	0.522000												
RP1	6101	broad.mit.edu	37	8	55533710	55533710	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:55533710T>C	uc003xsd.1	+	2	332	c.184T>C	c.(184-186)TCC>CCC	p.S62P	RP1_uc011ldy.1_Missense_Mutation_p.S62P	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	62	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCCTTTAAGTCCTTTGATGC	0.577000												
SLC26A7	115111	broad.mit.edu	37	8	92401568	92401568	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:92401568G>A	uc003yex.2	+	17	1956	c.1678G>A	c.(1678-1680)GAA>AAA	p.E560K	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.E560K|SLC26A7_uc003yfa.2_Missense_Mutation_p.E560K	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	560	STAS.|Cytoplasmic (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTACAGAAGAAGCTTCACA	0.438000												
RIMS2	9699	broad.mit.edu	37	8	104898091	104898091	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:104898091A>G	uc003yls.2	+	2	839	c.598A>G	c.(598-600)AGT>GGT	p.S200G	RIMS2_uc003ylp.2_Missense_Mutation_p.S422G|RIMS2_uc003ylw.2_Missense_Mutation_p.S230G|RIMS2_uc003ylq.2_Missense_Mutation_p.S230G|RIMS2_uc003ylr.2_Missense_Mutation_p.S230G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	453					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)			TCAGGGACCAAGTTCTTATGC	0.483000										HNSCC(12;0.0054)		
ZFPM2	23414	broad.mit.edu	37	8	106813645	106813645	+	Silent	SNP	T	T	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:106813645T>C	uc003ymd.2	+	8	1358	c.1335T>C	c.(1333-1335)ACT>ACC	p.T445T	ZFPM2_uc011lhs.1_Silent_p.T176T|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	445					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAAAGACTCAGCTCTTTC	0.453000												
CSMD3	114788	broad.mit.edu	37	8	113988120	113988120	+	Silent	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:113988120T>G	uc003ynu.2	-	7	1447	c.1288A>C	c.(1288-1290)AGA>CGA	p.R430R	CSMD3_uc003ynt.2_Silent_p.R390R|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	430	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCAGCATGTCTTGGTCTTCTC	0.448000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
GSDMC	56169	broad.mit.edu	37	8	130762281	130762281	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:130762281A>T	uc003ysr.2	-	12	2050	c.1168T>A	c.(1168-1170)TTT>ATT	p.F390I		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	390						mitochondrion				ovary(2)|skin(1)	3						TTTGGGTTAAACCATGCATGG	0.453000												
FAM135B	51059	broad.mit.edu	37	8	139164785	139164785	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr8:139164785T>G	uc003yuy.2	-	13	2104	c.1933A>C	c.(1933-1935)AGT>CGT	p.S645R	FAM135B_uc003yux.2_Missense_Mutation_p.S546R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S207R|FAM135B_uc003yvb.2_Missense_Mutation_p.S207R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	645										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGGTAGAACTTAGTGGATCA	0.488000										HNSCC(54;0.14)		
OSTF1	26578	broad.mit.edu	37	9	77703615	77703615	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:77703615A>T	uc004ajv.3	+	1	218	c.7A>T	c.(7-9)AAG>TAG	p.K3*	OSTF1_uc004ajw.3_5'UTR|OSTF1_uc004ajx.3_Nonsense_Mutation_p.K3*|C9orf95_uc004aju.2_5'Flank|C9orf95_uc004ajs.3_5'Flank|C9orf95_uc004ajr.3_5'Flank|C9orf95_uc004ajt.3_5'Flank	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	3					ossification|signal transduction	cytoplasm	identical protein binding			skin(1)	1						CGAGATGTCGAAGCCGCCACC	0.642000												
C9orf79	286234	broad.mit.edu	37	9	90503233	90503233	+	Silent	SNP	G	G	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:90503233G>A	uc004app.3	+	4	3866	c.3831G>A	c.(3829-3831)AGG>AGA	p.R1277R		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1277						integral to membrane				ovary(3)	3						TACACCCCAGGAAAGGAGGCA	0.547000												
TSTD2	158427	broad.mit.edu	37	9	100367774	100367774	+	Silent	SNP	G	G	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:100367774G>C	uc004axn.2	-	8	1592	c.1104C>G	c.(1102-1104)CTC>CTG	p.L368L	TSTD2_uc004axo.2_Silent_p.L142L|TSTD2_uc004axp.1_Silent_p.L142L	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	368	Rhodanese.									ovary(2)	2						CCTTGGCTTTGAGGTAGGCTG	0.582000												
SMC2	10592	broad.mit.edu	37	9	106889688	106889688	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:106889688C>T	uc004bbv.2	+	20	3005	c.2717C>T	c.(2716-2718)TCT>TTT	p.S906F	SMC2_uc004bbw.2_Missense_Mutation_p.S906F|SMC2_uc011lvl.1_Missense_Mutation_p.S906F|SMC2_uc004bbx.2_Missense_Mutation_p.S906F|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	906	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						AACAATGATTCTCAGCTTAAA	0.388000												
FBXW5	54461	broad.mit.edu	37	9	139835816	139835816	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr9:139835816G>C	uc004cjx.2	-	8	1495	c.1344C>G	c.(1342-1344)TTC>TTG	p.F448L	FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.F196L|FBXW5_uc004cjz.2_Missense_Mutation_p.F178L	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	448							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TCTTGAGGTCGAACACCAGCA	0.657000												
SFRS17A	8227	broad.mit.edu	37	X	1712436	1712436	+	Silent	SNP	C	C	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:1712436C>T	uc004cqa.2	+	2	277	c.81C>T	c.(79-81)ATC>ATT	p.I27I	SFRS17A_uc010ncx.1_Silent_p.I27I|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	27					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAAGCCCATCACCAAGATGA	0.622000												
GPM6B	2824	broad.mit.edu	37	X	13803813	13803813	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:13803813A>G	uc004cvz.2	-	2	467	c.176T>C	c.(175-177)CTC>CCC	p.L59P	GPM6B_uc004cvx.2_Missense_Mutation_p.L40P|GPM6B_uc011min.1_5'UTR|GPM6B_uc004cwa.2_Missense_Mutation_p.L40P|GPM6B_uc004cvw.2_Missense_Mutation_p.L99P|GPM6B_uc011mim.1_Missense_Mutation_p.L73P|GPM6B_uc004cvy.2_Missense_Mutation_p.L99P	NM_005278	NP_005269	Q13491	GPM6B_HUMAN	glycoprotein M6B isoform 3	59					cell differentiation|nervous system development	integral to membrane					0						GGTGCCTGCGAGAGCCACATG	0.582000												
MID1IP1	58526	broad.mit.edu	37	X	38664471	38664471	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:38664471A>G	uc004dei.3	+	3	696	c.272A>G	c.(271-273)TAC>TGC	p.Y91C	MID1IP1_uc010ngz.2_Missense_Mutation_p.Y91C|MID1IP1_uc004dej.3_Missense_Mutation_p.Y91C	NM_001098790	NP_001092260	Q9NPA3	M1IP1_HUMAN	MID1 interacting G12-like protein	91					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus					0						TACAGCCACTACGTGCTTCTC	0.667000												
HUWE1	10075	broad.mit.edu	37	X	53622292	53622292	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:53622292C>A	uc004dsp.2	-	30	3637	c.3235G>T	c.(3235-3237)GTC>TTC	p.V1079F	HUWE1_uc004dsn.2_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1079					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CTCTGGCGGACAGGAGATCCC	0.517000												
TRO	7216	broad.mit.edu	37	X	54949090	54949090	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:54949090T>G	uc004dtq.2	+	3	232	c.125T>G	c.(124-126)GTC>GGC	p.V42G	TRO_uc011moj.1_5'UTR|TRO_uc004dts.2_Missense_Mutation_p.V42G|TRO_uc004dtr.2_Missense_Mutation_p.V42G|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	42					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GAGGACAGTGTCCTGCTGATG	0.577000												
OPHN1	4983	broad.mit.edu	37	X	67273537	67273537	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:67273537T>G	uc004dww.3	-	22	2568	c.2274A>C	c.(2272-2274)GAA>GAC	p.E758D	OPHN1_uc011mpg.1_Missense_Mutation_p.E650D	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	758	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CTGGCTTTGGTTCTGGCTTTT	0.552000												
TAF1	6872	broad.mit.edu	37	X	70627984	70627984	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:70627984A>C	uc004dzu.3	+	28	4415	c.4364A>C	c.(4363-4365)AAT>ACT	p.N1455T	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.N1476T|TAF1_uc004dzv.3_Missense_Mutation_p.N629T|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1455	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ATTGTGAAAAATAGTGCAACC	0.448000												
ACRC	93953	broad.mit.edu	37	X	70824126	70824126	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:70824126A>C	uc004eae.2	+	8	1500	c.999A>C	c.(997-999)GAA>GAC	p.E333D	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	333						nucleus				ovary(3)	3	Renal(35;0.156)					ATGATTTGGAAGTTCCTGTGC	0.468000												
CYLC1	1538	broad.mit.edu	37	X	83128921	83128921	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:83128921A>C	uc004eei.1	+	4	1226	c.1205A>C	c.(1204-1206)AAA>ACA	p.K402T	CYLC1_uc004eeh.1_Missense_Mutation_p.K401T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	402	4.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						GATGCAAAGAAAATTACATTC	0.318000												
TGIF2LX	90316	broad.mit.edu	37	X	89177518	89177518	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:89177518A>G	uc004efe.2	+	2	483	c.434A>G	c.(433-435)AAG>AGG	p.K145R		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GTGCCGGCCAAGTCAGGGCCC	0.592000												
GABRQ	55879	broad.mit.edu	37	X	151821216	151821216	+	Silent	SNP	A	A	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:151821216A>G	uc004ffp.1	+	9	1391	c.1371A>G	c.(1369-1371)TCA>TCG	p.S457S		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	457						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCACCTCAGAGCAGGCCC	0.597000												
MAGEA12	4111	broad.mit.edu	37	X	151900086	151900086	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:151900086A>T	uc010ntp.2	-	3	1069	c.715T>A	c.(715-717)TTT>ATT	p.F239I	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.F239I	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	239	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCGCAAAGACACTGTCC	0.567000												
CTAG2	30848	broad.mit.edu	37	X	153881527	153881527	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chrX:153881527A>T	uc004fmi.1	-	1	316	c.263T>A	c.(262-264)CTT>CAT	p.L88H	CTAG2_uc004fmh.1_Missense_Mutation_p.L88H	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	88						centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATACAACTGAAGCAGGCGGCT	0.607000												
ZNF281	23528	broad.mit.edu	37	1	200378657	200378658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr1:200378657_200378658insG	uc001gve.2	-	2	283_284	c.176_177insC	c.(175-177)CCGfs	p.P59fs	uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Frame_Shift_Ins_p.P59fs|ZNF281_uc001gvg.1_Intron	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	59					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						AGCTGGTGACCGGGGGAAGACG	0.559												
SPRED1	161742	broad.mit.edu	37	15	38643621	38643621	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr15:38643621delA	uc001zka.3	+	7	1426	c.1091delA	c.(1090-1092)TATfs	p.Y364fs		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	364	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGATGCATATATCAAGTTAGT	0.428									Legius_syndrome			
ZNF677	342926	broad.mit.edu	37	19	53741537	53741541	+	Frame_Shift_Del	DEL	CTCTG	CTCTG	-	rs141331857		TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr19:53741537_53741541delCTCTG	uc002qbf.1	-	5	624_628	c.439_443delCAGAG	c.(439-444)CAGAGTfs	p.Q147fs	ZNF677_uc002qbg.1_Frame_Shift_Del_p.Q147fs	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	147_148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		TATAGAAACACTCTGCTTTAAAGAG	0.317												
VILL	50853	broad.mit.edu	37	3	38040404	38040406	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:38040404_38040406delGCT	uc003chj.2	+	10	1230_1232	c.944_946delGCT	c.(943-948)GGCTTC>GTC	p.315_316GF>V	VILL_uc003chl.2_In_Frame_Del_p.315_316GF>V|VILL_uc010hgu.2_In_Frame_Del_p.145_146GF>V	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	315_316					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCGCCCCAGGGCTTCATCCAGGC	0.650												
TBCA	6902	broad.mit.edu	37	5	77004071	77004071	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr5:77004071delT	uc003kfh.1	-	2	259	c.155delA	c.(154-156)AAGfs	p.K52fs	TBCA_uc003kfi.1_Frame_Shift_Del_p.K52fs	NM_004607	NP_004598	O75347	TBCA_HUMAN	tubulin-specific chaperone a	52					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			ovary(1)	1		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TTTTACCTGCTTTTTAATGTC	0.284												
SMYD5	10322	broad.mit.edu	37	2	73453020	73453023	+	Frame_Shift_Del	DEL	GGAG	GGAG	-			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr2:73453019_73453022AGGAG>A	uc002siw.2	+	12	1231_1234	c.1202_1205AGGAG>A	c.(1201-1206)gaggagfs	p.E401fs	SMYD5_uc010yre.1_Frame_Shift_Del_p.E285fs	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	401	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						gaggaggaggaggaggaagGAGAG	0.544												
PIK3CB	5291	broad.mit.edu	37	3	138382756	138382757	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-A4PD-01A-11D-A25D-08	TCGA-BR-A4PD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2385d8ca-bd21-4d36-8ed9-1949a2165680	fc0f098d-8651-4be6-8401-e80d8641fbe1	g.chr3:138382755_138382756G>GT	uc011bmq.2	-	18	2788_2789	c.2788_2789C>AC	c.(2788-2790)actfs	p.T930fs	PIK3CB_uc011bmn.2_Frame_Shift_Ins_p.T442fs|PIK3CB_uc011bmo.2_Frame_Shift_Ins_p.T381fs|PIK3CB_uc011bmp.2_Frame_Shift_Ins_p.T517fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	930	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CACCTGGCCAGTTTTTTTGACC	0.441