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
DLGAP3	58512	broad.mit.edu	37	1	35365313	35365313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:35365313C>T	uc001byc.2	-	3	1343	c.1343G>A	c.(1342-1344)CGG>CAG	p.R448Q		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	448					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				GATGGAGCTCCGGGGGTGGAT	0.582												
GLIS1	148979	broad.mit.edu	37	1	53980408	53980408	+	Silent	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:53980408G>A	uc001cvr.1	-	7	1815	c.1248C>T	c.(1246-1248)GGC>GGT	p.G416G		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	416					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGGCAGGAGGCCCGATGCAA	0.612												
LRRC7	57554	broad.mit.edu	37	1	70509665	70509665	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:70509665A>G	uc001dep.2	+	20	3914	c.3884A>G	c.(3883-3885)AAC>AGC	p.N1295S	LRRC7_uc009wbg.2_Missense_Mutation_p.N579S|LRRC7_uc001deq.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1295						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AATACAGTTAACCTTGGCATG	0.388												
COL11A1	1301	broad.mit.edu	37	1	103385904	103385904	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:103385904G>T	uc001dul.2	-	49	4043	c.3725C>A	c.(3724-3726)CCA>CAA	p.P1242Q	COL11A1_uc001duk.2_Missense_Mutation_p.P438Q|COL11A1_uc001dum.2_Missense_Mutation_p.P1254Q|COL11A1_uc001dun.2_Missense_Mutation_p.P1203Q|COL11A1_uc009weh.2_Missense_Mutation_p.P1126Q	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1242	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AACAGACCCTGGGGGTCCTTG	0.358												
ATP8B2	57198	broad.mit.edu	37	1	154317185	154317185	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:154317185T>G	uc001fex.2	+	21	2309	c.2309T>G	c.(2308-2310)CTT>CGT	p.L770R		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	756	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGGACAAGCTTTCTTCTTCC	0.537											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
XPR1	9213	broad.mit.edu	37	1	180794410	180794410	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:180794410T>A	uc001goi.2	+	9	1256	c.1064T>A	c.(1063-1065)ATG>AAG	p.M355K	XPR1_uc009wxm.2_Missense_Mutation_p.M355K|XPR1_uc009wxn.2_Missense_Mutation_p.M355K	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	355	Helical; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						TATGGATTTATGGTTTTCTTC	0.428												
MYOG	4656	broad.mit.edu	37	1	203054915	203054915	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr1:203054915C>T	uc001gzd.2	-	1	463	c.175G>A	c.(175-177)GAG>AAG	p.E59K		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	59					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						GGACAGTGCTCGGGGGTCCCC	0.697												
FBXO18	84893	broad.mit.edu	37	10	5978466	5978466	+	Silent	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr10:5978466C>T	uc001iis.2	+	20	2972	c.2877C>T	c.(2875-2877)GGC>GGT	p.G959G	FBXO18_uc001iir.2_Silent_p.G902G|FBXO18_uc009xig.2_Silent_p.G885G|FBXO18_uc001iit.2_Silent_p.G1010G	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	959					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						TAAAAACAGGCGTGGTGCGCT	0.522												
PSTK	118672	broad.mit.edu	37	10	124742959	124742959	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr10:124742959C>T	uc001lgy.1	+	3	1120	c.680C>T	c.(679-681)CCG>CTG	p.P227L		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	227							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CTCACAATTCCGAGTCCAGCA	0.443												
FAM196A	642938	broad.mit.edu	37	10	128974037	128974037	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr10:128974037G>T	uc001lju.1	-	1	664	c.623C>A	c.(622-624)GCG>GAG	p.A208E	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.A208E|FAM196A_uc001ljv.1_Missense_Mutation_p.A208E|FAM196A_uc009yap.1_Missense_Mutation_p.A208E	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	208										ovary(2)	2						GTTTTGGAGCGCAGCTTCTCC	0.607												
ATM	472	broad.mit.edu	37	11	108235869	108235869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr11:108235869C>T	uc001pkb.1	+	62	9296	c.8911C>T	c.(8911-8913)CAG>TAG	p.Q2971*	ATM_uc009yxr.1_Nonsense_Mutation_p.Q2971*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.Q1623*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2971					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTGTATTTACAGCAGAGGCC	0.398			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
C11orf57	55216	broad.mit.edu	37	11	111951135	111951135	+	Missense_Mutation	SNP	G	G	A	rs141894421		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr11:111951135G>A	uc001pmr.3	+	4	854	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	C11orf57_uc001pmu.2_Missense_Mutation_p.R58Q|C11orf57_uc001pmw.3_Missense_Mutation_p.R58Q|C11orf57_uc001pmt.3_Missense_Mutation_p.R58Q|C11orf57_uc001pmv.3_Missense_Mutation_p.R58Q|C11orf57_uc001pms.3_Missense_Mutation_p.R29Q	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	58										breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		TCTTTTAGCCGGATGCGCAGT	0.388												
CADM1	23705	broad.mit.edu	37	11	115049385	115049385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr11:115049385G>A	uc001ppi.3	-	9	1318	c.1189C>T	c.(1189-1191)CGC>TGC	p.R397C	CADM1_uc001ppf.3_Missense_Mutation_p.R369C|CADM1_uc001ppk.3_Missense_Mutation_p.R369C|CADM1_uc001ppj.3_Missense_Mutation_p.R398C|CADM1_uc001pph.3_Missense_Mutation_p.R160C	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	397	Cytoplasmic (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCAAAATAGCGCCCCAGAATG	0.537												
USP2	9099	broad.mit.edu	37	11	119243689	119243689	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr11:119243689G>A	uc001pwm.3	-	2	797	c.502C>T	c.(502-504)CGC>TGC	p.R168C	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	168	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ATGGGGCTGCGGCCCAGGTTC	0.632												
HNRNPA1	3178	broad.mit.edu	37	12	54677679	54677679	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr12:54677679G>A	uc001sfl.2	+	9	1095	c.991G>A	c.(991-993)GGA>AGA	p.G331R	HNRNPA1_uc001sfm.2_Missense_Mutation_p.G279R|HNRNPA1_uc009zng.2_Missense_Mutation_p.G279R|HNRNPA1_uc009znh.2_Missense_Mutation_p.G279R|HNRNPA1_uc009zni.2_Missense_Mutation_p.G266R|HNRNPA1_uc001sfn.2_Missense_Mutation_p.G226R|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc009znj.1_Missense_Mutation_p.G234R	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	331	Gly-rich.|Nuclear targeting sequence (M9).				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						CATGAAGGGAGGAAATTTTGG	0.423												
PLXNC1	10154	broad.mit.edu	37	12	94673283	94673283	+	Silent	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr12:94673283C>T	uc001tdc.2	+	22	3882	c.3633C>T	c.(3631-3633)AAC>AAT	p.N1211N	PLXNC1_uc010sut.1_Silent_p.N258N|PLXNC1_uc009zsv.2_Translation_Start_Site	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1211	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TCCCGGAAAACGAGAGTGCAG	0.383												
NOS1	4842	broad.mit.edu	37	12	117672461	117672461	+	Silent	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr12:117672461G>A	uc001twm.1	-	21	3830	c.3144C>T	c.(3142-3144)CTC>CTT	p.L1048L		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1048	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGCATTCACGAGGTCCTCGT	0.602												
MSI1	4440	broad.mit.edu	37	12	120784004	120784004	+	Silent	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr12:120784004C>T	uc001tye.1	-	13	1045	c.981G>A	c.(979-981)TCG>TCA	p.S327S		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	327					nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGACCCCCGAGTCCTGGT	0.721												
ATP12A	479	broad.mit.edu	37	13	25275019	25275019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr13:25275019G>A	uc001upp.2	+	13	2027	c.1840G>A	c.(1840-1842)GTG>ATG	p.V614M	ATP12A_uc010aaa.2_Missense_Mutation_p.V620M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	614	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCGGTCCACCGTGCCAGATGC	0.468												
MYO9A	4649	broad.mit.edu	37	15	72227788	72227788	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr15:72227788T>C	uc002atl.3	-	17	2889	c.2416A>G	c.(2416-2418)ATT>GTT	p.I806V	MYO9A_uc010biq.2_Missense_Mutation_p.I426V|MYO9A_uc002atn.1_Missense_Mutation_p.I787V	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	806					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						CTCTGGCGAATCCCAGTTCTG	0.383												
CREBBP	1387	broad.mit.edu	37	16	3778427	3778427	+	Silent	SNP	T	T	C	rs55960450	byFrequency	TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr16:3778427T>C	uc002cvv.2	-	31	6825	c.6621A>G	c.(6619-6621)CAA>CAG	p.Q2207Q	CREBBP_uc002cvw.2_Silent_p.Q2169Q	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2207	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		gctgctgttgttgctgctgct	0.423			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
HYDIN	54768	broad.mit.edu	37	16	70841630	70841630	+	Silent	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr16:70841630C>T	uc002ezr.2	-	86	15344	c.15216G>A	c.(15214-15216)AAG>AAA	p.K5072K	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5073										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGTTGTTGATCTTCTTGGGCC	0.527												
PNMT	5409	broad.mit.edu	37	17	37826401	37826401	+	Missense_Mutation	SNP	C	C	T	rs111272760		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr17:37826401C>T	uc002hsi.1	+	3	830	c.608C>T	c.(607-609)ACG>ATG	p.T203M		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	203					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACATCACCACGCTGCTGAGG	0.672												
KCNH6	81033	broad.mit.edu	37	17	61613406	61613406	+	Missense_Mutation	SNP	C	C	A	rs41280094	by1000genomes	TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr17:61613406C>A	uc002jay.2	+	6	1558	c.1478C>A	c.(1477-1479)TCC>TAC	p.S493Y	KCNH6_uc002jax.1_Missense_Mutation_p.S493Y|KCNH6_uc010wpl.1_Missense_Mutation_p.S370Y|KCNH6_uc010wpm.1_Missense_Mutation_p.S493Y|KCNH6_uc002jaz.1_Missense_Mutation_p.S440Y	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	493	Helical; Name=Segment S6; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	AAGGTCTTCTCCATCTGCGTC	0.507												
SCN4A	6329	broad.mit.edu	37	17	62018184	62018184	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr17:62018184C>T	uc002jds.1	-	24	5535	c.5458G>A	c.(5458-5460)GCC>ACC	p.A1820T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1820					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GGGGGAGGGGCGGGAGGCCAG	0.677												
SLC25A10	1468	broad.mit.edu	37	17	79686876	79686876	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr17:79686876G>T	uc002kbi.2	+	10	807	c.721G>T	c.(721-723)GCC>TCC	p.A241S	SLC25A10_uc010wut.1_Missense_Mutation_p.A396S|SLC25A10_uc010dif.2_Missense_Mutation_p.A250S|SLC25A10_uc010wuu.1_Missense_Mutation_p.A195S	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	241	Solcar 3.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TTTCCACTGCGCCGTGGAGAC	0.607												
CXXC1	30827	broad.mit.edu	37	18	47812529	47812529	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr18:47812529C>T	uc002leq.3	-	4	1055	c.322G>A	c.(322-324)GGG>AGG	p.G108R	CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.G108R|CXXC1_uc010doy.2_Missense_Mutation_p.G108R|CXXC1_uc002les.2_Missense_Mutation_p.G108R	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	108					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTCTTGCGCCCTCCACCCTCA	0.642												
CDH7	1005	broad.mit.edu	37	18	63548075	63548075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr18:63548075G>A	uc002ljz.2	+	12	2628	c.2303G>A	c.(2302-2304)CGC>CAC	p.R768H	CDH7_uc002lkb.2_Missense_Mutation_p.R768H	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	768	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TGGGGACCTCGCTTTAAACGA	0.433												
MAP2K7	5609	broad.mit.edu	37	19	7975916	7975916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr19:7975916G>A	uc002mit.2	+	7	792	c.727G>A	c.(727-729)GAC>AAC	p.D243N	MAP2K7_uc002miv.2_Missense_Mutation_p.D243N|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.D243N|MAP2K7_uc010dvv.2_Missense_Mutation_p.D118N	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	243	Protein kinase.	Proton acceptor (By similarity).			activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CATCCACCGCGACGTCAAGCC	0.632												
ZNF480	147657	broad.mit.edu	37	19	52817462	52817462	+	Silent	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr19:52817462C>T	uc010ydl.1	+	3	199	c.129C>T	c.(127-129)TGC>TGT	p.C43C	ZNF480_uc002pyv.2_Intron|ZNF480_uc010ydm.1_Silent_p.C43C|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGTGGAAATGCCTGGACCCTG	0.498												
TPO	7173	broad.mit.edu	37	2	1488526	1488526	+	Silent	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:1488526G>A	uc002qww.2	+	9	1588	c.1497G>A	c.(1495-1497)CCG>CCA	p.P499P	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.P499P|TPO_uc002qwr.2_Silent_p.P499P|TPO_uc002qwx.2_Silent_p.P499P|TPO_uc010yio.1_Silent_p.P326P|TPO_uc010yip.1_Silent_p.P499P|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	499	Extracellular (Potential).		P -> L (in TDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGATCCACCCGCTGGTGAGGA	0.637												
KCNS3	3790	broad.mit.edu	37	2	18112991	18112991	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:18112991T>C	uc002rcv.2	+	3	1167	c.716T>C	c.(715-717)GTC>GCC	p.V239A	KCNS3_uc002rcw.2_Missense_Mutation_p.V239A	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	239	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGCTTGCCGTCCGGCTGGCT	0.517												
SCN9A	6335	broad.mit.edu	37	2	167141099	167141099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:167141099G>A	uc010fpl.2	-	12	2179	c.1838C>T	c.(1837-1839)CCG>CTG	p.P613L	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.P484L|SCN9A_uc002uds.1_Missense_Mutation_p.P484L|SCN9A_uc002udt.1_Missense_Mutation_p.P484L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	613						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCCGTTCACCGGCAGCATTGG	0.587												
PLCL1	5334	broad.mit.edu	37	2	198949991	198949991	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:198949991G>C	uc010fsp.2	+	2	2041	c.1750G>C	c.(1750-1752)GAG>CAG	p.E584Q	PLCL1_uc002uuv.3_Missense_Mutation_p.E505Q	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	584					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	ACTCTGTAGGGAGCTCTCTGA	0.383												
COL6A3	1293	broad.mit.edu	37	2	238268749	238268749	+	Silent	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr2:238268749C>T	uc002vwl.2	-	17	6549	c.6264G>A	c.(6262-6264)CCG>CCA	p.P2088P	COL6A3_uc002vwo.2_Silent_p.P1882P|COL6A3_uc010znj.1_Silent_p.P1481P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2088	Triple-helical region.|Collagen-like 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTCTGGCCCGGGCAGCCCT	0.607												
PARD6B	84612	broad.mit.edu	37	20	49354417	49354417	+	Silent	SNP	T	T	C			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr20:49354417T>C	uc002xvo.2	+	2	333	c.90T>C	c.(88-90)TTT>TTC	p.F30F		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	30	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1						TTCGTCGGTTTTCGCTGGAAA	0.338												
C20orf106	200232	broad.mit.edu	37	20	55100887	55100887	+	Missense_Mutation	SNP	G	G	A	rs1054339		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr20:55100887G>A	uc002xxx.2	+	2	357	c.277G>A	c.(277-279)GGC>AGC	p.G93S	GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	93	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			CCTTCGAGGCGGCCAACTTCA	0.398												
KRTAP10-2	386679	broad.mit.edu	37	21	45971079	45971079	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr21:45971079G>T	uc002zfi.1	-	1	310	c.263C>A	c.(262-264)GCT>GAT	p.A88D	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	88	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)	1						GGTGCAGCAAGCCGGCTGGCA	0.687												
KRTAP10-2	386679	broad.mit.edu	37	21	45971206	45971206	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr21:45971206C>T	uc002zfi.1	-	1	183	c.136G>A	c.(136-138)GTC>ATC	p.V46I	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	46	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)	1						GGGGTGCAGACCAGGGTCAGG	0.697												
DLEC1	9940	broad.mit.edu	37	3	38139256	38139256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr3:38139256G>A	uc003cho.1	+	18	2608	c.2587G>A	c.(2587-2589)GTC>ATC	p.V863I	DLEC1_uc003chp.1_Missense_Mutation_p.V863I|DLEC1_uc010hgv.1_Missense_Mutation_p.V863I|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	863					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATCATCAACGTCTCAGCCCT	0.632												
SAMD7	344658	broad.mit.edu	37	3	169646274	169646274	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr3:169646274A>G	uc003fgd.2	+	7	1216	c.949A>G	c.(949-951)AAT>GAT	p.N317D	SAMD7_uc003fge.2_Missense_Mutation_p.N317D|SAMD7_uc011bpo.1_Missense_Mutation_p.N218D	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	317										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AATTGGGGGGAATCTTTCTTT	0.383												
CCDC110	256309	broad.mit.edu	37	4	186380606	186380606	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr4:186380606T>C	uc003ixu.3	-	6	1211	c.1135A>G	c.(1135-1137)AGA>GGA	p.R379G	CCDC110_uc003ixv.3_Missense_Mutation_p.R342G|CCDC110_uc011ckt.1_Missense_Mutation_p.R379G	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	379						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGTGTGTATCTTGGAACTCTG	0.328												
BACH2	60468	broad.mit.edu	37	6	90718472	90718472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr6:90718472C>T	uc011eab.1	-	6	901	c.92G>A	c.(91-93)CGG>CAG	p.R31Q	BACH2_uc003pnw.2_Missense_Mutation_p.R31Q|BACH2_uc010kch.2_Missense_Mutation_p.R31Q	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	31						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATCCTTTTTCCGCTGGTCATT	0.542												
SYNE1	23345	broad.mit.edu	37	6	152542605	152542605	+	Silent	SNP	G	G	T	rs141170182	byFrequency	TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr6:152542605G>T	uc010kiw.2	-	118	22214	c.21612C>A	c.(21610-21612)CCC>CCA	p.P7204P	SYNE1_uc010kiv.2_Silent_p.P1728P|SYNE1_uc003qos.3_Silent_p.P1728P|SYNE1_uc003qot.3_Silent_p.P7133P|SYNE1_uc003qou.3_Silent_p.P7204P|SYNE1_uc003qor.3_Silent_p.P104P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7204	Cytoplasmic (Potential).|Spectrin 23.				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)		TTTCTGTCACGGGTGGGTGAC	0.363										HNSCC(10;0.0054)		
TAGAP	117289	broad.mit.edu	37	6	159456921	159456921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr6:159456921G>A	uc003qrz.2	-	10	2466	c.2134C>T	c.(2134-2136)CGA>TGA	p.R712*	TAGAP_uc011eft.1_Nonsense_Mutation_p.R649*|TAGAP_uc003qsa.2_Nonsense_Mutation_p.R534*	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	712					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGCTACATCGTCGCACGAGA	0.567												
NPSR1	387129	broad.mit.edu	37	7	34867067	34867067	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr7:34867067C>T	uc003teg.1	+	5	661	c.533C>T	c.(532-534)TCC>TTC	p.S178F	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.S178F|NPSR1_uc010kwt.1_Missense_Mutation_p.S25F|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S112F|NPSR1_uc003tei.1_Missense_Mutation_p.S178F|NPSR1_uc010kww.1_Missense_Mutation_p.S167F|NPSR1_uc011kar.1_Missense_Mutation_p.S112F|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	178	Helical; Name=4; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	TTTCTGTTCTCCATTCCCACC	0.522												
STEAP4	79689	broad.mit.edu	37	7	87913437	87913437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr7:87913437G>A	uc003ujs.2	-	2	253	c.148C>T	c.(148-150)CGA>TGA	p.R50*	STEAP4_uc010lek.2_Nonsense_Mutation_p.R50*|STEAP4_uc003ujt.2_Nonsense_Mutation_p.R50*	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	50					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					TGGGGGTTTCGACTTCCAAAA	0.438												
CPSF4	10898	broad.mit.edu	37	7	99054060	99054060	+	Silent	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr7:99054060C>T	uc003uqj.2	+	8	890	c.747C>T	c.(745-747)GGC>GGT	p.G249G	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Silent_p.G224G|CPSF4_uc003uqk.2_Silent_p.G223G|CPSF4_uc011kix.1_Silent_p.G171G	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	249	CCHC-type.				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCAGTGTGGCGAGAAAGGAC	0.557												
SNAI2	6591	broad.mit.edu	37	8	49832989	49832989	+	Missense_Mutation	SNP	G	G	A	rs11544360		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:49832989G>A	uc003xqp.2	-	2	255	c.91C>T	c.(91-93)CCG>TCG	p.P31S		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	31					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TAGAGATACGGGGAAATAATC	0.438												
KCNB2	9312	broad.mit.edu	37	8	73850023	73850023	+	Silent	SNP	C	C	T	rs150484780		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:73850023C>T	uc003xzb.2	+	3	3021	c.2433C>T	c.(2431-2433)GAC>GAT	p.D811D		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	811	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			ATACTGGTGACGACGAAGACT	0.522												
KIAA1429	25962	broad.mit.edu	37	8	95500939	95500939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:95500939G>A	uc003ygo.1	-	24	5447	c.5434C>T	c.(5434-5436)CGA>TGA	p.R1812*	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1812					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GATTTTTATCGTGTAAAGGAG	0.418												
GDF6	392255	broad.mit.edu	37	8	97172648	97172648	+	Silent	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:97172648G>A	uc003yhp.2	-	1	373	c.273C>T	c.(271-273)CGC>CGT	p.R91R		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	91					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GGGGCACCACGCGCGGACCCC	0.657												
WDR67	93594	broad.mit.edu	37	8	124096483	124096483	+	Missense_Mutation	SNP	C	C	T	rs139812181		TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:124096483C>T	uc003ypp.1	+	4	512	c.422C>T	c.(421-423)GCC>GTC	p.A141V	WDR67_uc011lig.1_Missense_Mutation_p.A141V|WDR67_uc011lih.1_Missense_Mutation_p.A31V|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.A141V	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	141	WD 2.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGGAAATATGCCATCACAACT	0.408												
PLEC	5339	broad.mit.edu	37	8	144993544	144993544	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr8:144993544C>T	uc003zaf.1	-	32	11026	c.10856G>A	c.(10855-10857)CGC>CAC	p.R3619H	PLEC_uc003zab.1_Missense_Mutation_p.R3482H|PLEC_uc003zac.1_Missense_Mutation_p.R3486H|PLEC_uc003zad.2_Missense_Mutation_p.R3482H|PLEC_uc003zae.1_Missense_Mutation_p.R3450H|PLEC_uc003zag.1_Missense_Mutation_p.R3460H|PLEC_uc003zah.2_Missense_Mutation_p.R3468H|PLEC_uc003zaj.2_Missense_Mutation_p.R3509H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3619	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CACAGGCACGCGGTGGCTGTG	0.677												
PTPRD	5789	broad.mit.edu	37	9	8521482	8521482	+	Silent	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr9:8521482G>A	uc003zkk.2	-	19	1467	c.756C>T	c.(754-756)AGC>AGT	p.S252S	PTPRD_uc003zkp.2_Silent_p.S252S|PTPRD_uc003zkq.2_Silent_p.S252S|PTPRD_uc003zkr.2_Silent_p.S246S|PTPRD_uc003zks.2_Silent_p.S242S|PTPRD_uc003zkl.2_Silent_p.S252S|PTPRD_uc003zkm.2_Silent_p.S239S|PTPRD_uc003zkn.2_Silent_p.S252S|PTPRD_uc003zko.2_Silent_p.S249S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	252	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATATTAACGCTTCCGCCTG	0.463										TSP Lung(15;0.13)		
NOTCH1	4851	broad.mit.edu	37	9	139391716	139391716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chr9:139391716G>A	uc004chz.2	-	34	6475	c.6475C>T	c.(6475-6477)CGC>TGC	p.R2159C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2159	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGGCTTGCGGACCTTCTTG	0.697			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
PASD1	139135	broad.mit.edu	37	X	150773161	150773161	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4J7-01A-31D-A25D-08	TCGA-BR-A4J7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e358b764-e5be-4a59-b170-7b2fbac78c87	ccdd1844-901d-4cc3-bf77-b9552021fcd0	g.chrX:150773161T>G	uc004fev.3	+	3	404	c.72T>G	c.(70-72)ATT>ATG	p.I24M		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	24						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TAAACTGGATTCCATCATTTC	0.333