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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ABCG8	64241	broad.mit.edu	37	2	44101581	44101581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:44101581G>A	ENST00000272286.2	+	10	1537	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	483	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTATGAACTGGAAGACGGGCT	0.478000													4	111					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662000													5	184					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202677280	202677280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:202677280G>A	ENST00000450471.2	+	4	529	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	CDK15_ENST00000374598.4_Missense_Mutation_p.R148Q|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.R148Q|CDK15_ENST00000410091.3_Missense_Mutation_p.R97Q|CDK15_ENST00000260967.2_Missense_Mutation_p.R97Q	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	148	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ACAGCTATCCGAGAAGGTAAG	0.398000													5	43					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27296946	27296946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:27296946C>T	ENST00000317338.12	-	4	1311	c.883G>A	c.(883-885)Ggg>Agg	p.G295R	SEZ6_ENST00000442608.3_Missense_Mutation_p.G295R|SEZ6_ENST00000360295.9_Missense_Mutation_p.G295R|SEZ6_ENST00000335960.6_Missense_Mutation_p.G295R|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	295						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ACTGTCTCCCCTTCCCGGAGG	0.602000													13	25					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7690907	7690907	+	Silent	SNP	G	G	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:7690907G>C	ENST00000358368.4	-	6	718	c.681C>G	c.(679-681)ctC>ctG	p.L227L	XAB2_ENST00000534844.1_Silent_p.L224L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	227					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCTGGGAGATGAGGTCGCACA	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)					3	53					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97270476	97270476	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:97270476T>C	ENST00000236228.6	+	9	1107	c.1025T>C	c.(1024-1026)gTt>gCt	p.V342A	PTBP2_ENST00000426398.2_Missense_Mutation_p.V342A|PTBP2_ENST00000394184.3_Missense_Mutation_p.V358A|PTBP2_ENST00000370197.1_Missense_Mutation_p.V347A|PTBP2_ENST00000541987.1_Missense_Mutation_p.V311A|PTBP2_ENST00000370198.1_Missense_Mutation_p.V347A|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	342	RRM 3.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTCCTGTTGGTTAGCAATTTA	0.413000													3	32					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171898	34171898	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:34171898G>T	ENST00000592237.1	+	18	1538	c.1009G>T	c.(1009-1011)Gag>Tag	p.E337*	TAF15_ENST00000311979.3_Missense_Mutation_p.G529V|TAF15_ENST00000588240.1_Missense_Mutation_p.G532V			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	347	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGGGGCTATGGAGGAGACCGT	0.622000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								28	72					3.1745e-13	3.74351e-13	1	1	0
TCEB3	6924	broad.mit.edu	37	1	24077647	24077647	+	Silent	SNP	C	C	A	rs146669222	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:24077647C>A	ENST00000418390.2	+	4	901	c.630C>A	c.(628-630)acC>acA	p.T210T		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	210					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CATCTTGTACCAGTCCTCATC	0.507000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	142					5.18039e-06	5.68025e-06	1	1	0
KRT8	3856	broad.mit.edu	37	12	53293635	53293635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:53293635C>T	ENST00000552551.1	-	6	1337	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KRT8_ENST00000552150.1_Missense_Mutation_p.R330H|KRT8_ENST00000546897.1_Missense_Mutation_p.R302H|KRT8_ENST00000293308.6_Missense_Mutation_p.R302H			P05787	K2C8_HUMAN	keratin 8	302	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTTTGTGCGCCGCAGGTC	0.602000													3	36					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40045413	40045413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:40045413G>C	ENST00000373233.3	-	33	6478	c.6301C>G	c.(6301-6303)Cta>Gta	p.L2101V		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2101					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATATTATCTAGGCGGTTAATT	0.468000													7	18					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30490668	30490668	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:30490668C>T	ENST00000356798.6	+	6	642	c.462C>T	c.(460-462)aaC>aaT	p.N154N	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	154					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCAAGGGCAACGTAGACCTGG	0.473000													3	42					0	0	1	0	0
PTGES2	80142	broad.mit.edu	37	9	130884674	130884674	+	Silent	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:130884674G>A	ENST00000338961.6	-	6	1716	c.972C>T	c.(970-972)ttC>ttT	p.F324F	PTGES2_ENST00000277462.5_Silent_p.F133F	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	324	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						GGCCCCCCATGAAGGGCCGGT	0.642000													31	103					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022592	31022592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:31022592C>T	ENST00000375687.4	+	13	2501	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	693					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.R693*(7)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGATCTACAGCGAACACAACT	0.592000			"""F, N, Mis"""		"""MDS, CMML"""								13	35					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411723	105411723	+	Silent	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:105411723G>A	ENST00000333244.5	-	7	10184	c.10065C>T	c.(10063-10065)gaC>gaT	p.D3355D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3355						nucleus		p.D3355E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAATGCTGAGGTCAGTGGTCT	0.667000													32	191					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261979	158261979	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:158261979A>G	ENST00000368170.3	+	3	713	c.434A>G	c.(433-435)cAg>cGg	p.Q145R		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	145					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CTGAGTTTCCAGAATACAACA	0.458000													13	131					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39987369	39987369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:39987369C>T	ENST00000373257.3	+	20	2510	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	807					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TAGGTATGAGCGGCTTGGTGA	0.612000													6	90					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296029	62296029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:62296029G>A	ENST00000378024.4	-	5	6134	c.5860C>T	c.(5860-5862)Ccc>Tcc	p.P1954S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1954					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCACACTGGGACCTGTTAAA	0.507000													19	216					0	0	1	0	0
PSMA5	5686	broad.mit.edu	37	1	109954752	109954752	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:109954752C>A	ENST00000271308.4	-	5	366	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Missense_Mutation_p.V58L	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		AGATTGGACACAGCTTGGGTC	0.438000													8	53					2.17888e-05	2.34793e-05	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103352614	103352614	+	Splice_Site	SNP	T	T	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:103352614T>A	ENST00000358392.2	-	63	4962		c.e63-2		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		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)		AGGTGGACCCTGTAAAGAAGA	0.348000													21	55					0	0	1	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32527206	32527206	+	RNA	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr13:32527206C>T	ENST00000428783.1	+	0	906																											CAGCAGTACGCGGAGAAGAAG	0.602000													6	28					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409621	80409621	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:80409621A>G	ENST00000265080.4	+	15	2419	c.2352A>G	c.(2350-2352)atA>atG	p.I784M	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	784					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGTCAGATACCACTGGATC	0.542000													10	56					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	44					0	0	1	0	0
IL19	29949	broad.mit.edu	37	1	207010044	207010044	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:207010044A>G	ENST00000270218.6	+	3	976	c.37A>G	c.(37-39)Aca>Gca	p.T13A	IL19_ENST00000340758.2_Missense_Mutation_p.T51A	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	13					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GCTCCTGGGTACAATACTGAT	0.458000													26	84					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15496704	15496704	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:15496704T>C	ENST00000395906.3	-	11	1952	c.1953A>G	c.(1951-1953)atA>atG	p.I651M	CDRT1_ENST00000354433.3_Missense_Mutation_p.I151M|CDRT1_ENST00000583965.1_Intron|RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	651										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CATTGGCTTTTATCACCTTCA	0.498000													28	296					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122361712	122361712	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:122361712G>A	ENST00000288912.4	+	3	1417	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	WDR66_ENST00000397454.2_Missense_Mutation_p.R188Q	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	188							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAAACCGACCGGATGCCCCAA	0.478000													18	73					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476499	42476499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:42476499C>T	ENST00000434000.1	-	9	2994	c.2712G>A	c.(2710-2712)tgG>tgA	p.W904*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.W982*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	982	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGCTCCGTTGCCAGCTGTGGG	0.637000													14	29					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17113533	17113533	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:17113533T>A	ENST00000377833.4	-	19	2582	c.2517A>T	c.(2515-2517)gaA>gaT	p.E839D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	839	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACAGGTTCTTTCTCCAGGAT	0.448000													22	38					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42122294	42122294	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:42122294C>T	ENST00000502486.1	-	5	1743	c.1164G>A	c.(1162-1164)ttG>ttA	p.L388L	BEND4_ENST00000504360.1_Silent_p.L384L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	388										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GATAGTTGTTCAACAGCTGCT	0.453000													11	99					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167891965	167891965	+	Missense_Mutation	SNP	C	C	T	rs138503526		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:167891965C>T	ENST00000265293.4	+	21	3650	c.3148C>T	c.(3148-3150)Cgg>Tgg	p.R1050W	WWC1_ENST00000521089.1_Missense_Mutation_p.R1056W|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1050	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCTGGAGAAGCGGGTGAGTTC	0.652000													5	27					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167322318	167322318	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:167322318T>C	ENST00000409855.1	-	7	970	c.844A>G	c.(844-846)Aga>Gga	p.R282G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	282					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTCCAGTTCTGTTGTGCAGG	0.388000													4	59					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712737	70712737	+	RNA	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:70712737G>T	ENST00000530196.1	-	0	1781					NR_003951.1																						GGTATGTTGTGCCATTTATAC	0.383000													5	113					0.00198382	0.00208384	1	1	0
OTOP1	133060	broad.mit.edu	37	4	4199805	4199805	+	Silent	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:4199805A>G	ENST00000296358.4	-	5	780	c.756T>C	c.(754-756)tgT>tgC	p.C252C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	252					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGTGCAGTTACACTGCGGTG	0.522000													10	35					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95537349	95537349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:95537349G>A	ENST00000295201.4	+	1	162	c.25G>A	c.(25-27)Gag>Aag	p.E9K	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.E9K	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	9					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCCGCCCTGCGAGCTGCCCTG	0.682000													4	19					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834812	82834812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:82834812C>A	ENST00000265077.3	+	8	6555	c.5990C>A	c.(5989-5991)tCa>tAa	p.S1997*	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Nonsense_Mutation_p.S1010*|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1997	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCAGCACTTCAGCCTTCCCC	0.517000													9	41					3.09899e-07	3.52157e-07	1	1	0
CHPF2	54480	broad.mit.edu	37	7	150932496	150932496	+	Missense_Mutation	SNP	G	G	T	rs143762414		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:150932496G>T	ENST00000035307.2	+	2	2139	c.626G>T	c.(625-627)cGg>cTg	p.R209L	CHPF2_ENST00000495645.1_Missense_Mutation_p.R201L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	209						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TACTTAGGCCGGGCAGAGGAG	0.602000													4	109					0.184627	0.184627	1	1	0
SEMA4G	57715	broad.mit.edu	37	10	102738956	102738956	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:102738956G>C	ENST00000210633.3	+	8	989	c.911G>C	c.(910-912)gGg>gCg	p.G304A	SEMA4G_ENST00000517724.1_Missense_Mutation_p.G304A|MRPL43_ENST00000370242.4_3'UTR|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000370250.4_Missense_Mutation_p.G304A|SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000370241.3_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	304	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ACACTGCGTGGGGTCTGCAGC	0.557000													7	90					0	0	1	0	0
IL2	3558	broad.mit.edu	37	4	123377470	123377470	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:123377470C>A	ENST00000226730.4	-	1	410	c.126G>T	c.(124-126)caG>caT	p.Q42H		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	42					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TCAAAATCATCTGTAAATCCA	0.323000			T	TNFRSF17	intestinal T-cell lymphoma								4	17					0.00024832	0.000263051	1	1	0
OR9G1	390174	broad.mit.edu	37	11	56467999	56467999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:56467999G>A	ENST00000312153.1	+	1	136	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CACCCTCATCGTGTTGATCTG	0.502000													9	66					0	0	1	0	0
IGHV3-9	28451	broad.mit.edu	37	14	106552398	106552398	+	RNA	SNP	C	C	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:106552398C>G	ENST00000390600.2	-	0	320																											TTCACAGAGTCCGCATAGCCT	0.517000													15	160					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37565024	37565024	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:37565024C>T	ENST00000300651.6	-	17	3673	c.3450G>A	c.(3448-3450)ggG>ggA	p.G1150G	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1150	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGGCTTCCCCCCAGACTGGG	0.473000										HNSCC(31;0.082)			3	29					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123554573	123554573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:123554573G>A	ENST00000422452.2	-	25	4633	c.4570C>T	c.(4570-4572)Cga>Tga	p.R1524*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.R1517*|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTACGAATTCGAACATTTCCG	0.483000													28	31					0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36380799	36380799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:36380799G>A	ENST00000396901.1	-	11	1454	c.881C>T	c.(880-882)cCt>cTt	p.P294L	NFKBID_ENST00000352614.2_Missense_Mutation_p.P446L|NFKBID_ENST00000340950.2_Missense_Mutation_p.P131L|NFKBID_ENST00000606253.1_Missense_Mutation_p.P294L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	294					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TACCCCCTCAGGGCCCGGCCC	0.672000													9	104					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352535	168352535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr6:168352535G>A	ENST00000366806.2	+	30	4622	c.4480G>A	c.(4480-4482)Gac>Aac	p.D1494N	MLLT4_ENST00000351017.4_Missense_Mutation_p.D1501N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1494N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1494N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D1477N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1494N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1493N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1494					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGAGCGCAGAGACTTGCAGTA	0.602000			T	MLL	AL								17	58					0	0	1	0	0
DEFB129	140881	broad.mit.edu	37	20	210311	210311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:210311G>A	ENST00000246105.4	+	2	482	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	151					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TAACACCAAAGAAAGCAGAGA	0.507000													22	48					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43772899	43772899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:43772899G>A	ENST00000372476.3	+	5	806	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	TIE1_ENST00000441333.2_Missense_Mutation_p.E243K|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000538015.1_Missense_Mutation_p.E243K	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	243	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCATGACGGCGAATGTGTATG	0.632000													4	66					0	0	1	0	0
LCN15	389812	broad.mit.edu	37	9	139658429	139658429	+	Silent	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:139658429T>C	ENST00000316144.5	-	2	153	c.129A>G	c.(127-129)gcA>gcG	p.A43A	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	43					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						TGCAGTCAGATGCCATGGAGA	0.652000													4	116					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167759	28167759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:28167759T>C	ENST00000304658.5	-	7	1233	c.733A>G	c.(733-735)Atc>Gtc	p.I245V	XPO6_ENST00000565698.1_Missense_Mutation_p.I231V	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	245					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGGGAACAGATATACTCACTC	0.493000													6	67					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78260265	78260265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:78260265G>A	ENST00000264914.4	-	3	1200	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	ARSB_ENST00000565165.1_Missense_Mutation_p.L222F|ARSB_ENST00000396151.3_Missense_Mutation_p.L222F	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	222					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTAGTTATGAGGGCTATAGCC	0.363000													4	37					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75116019	75116019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr15:75116019C>T	ENST00000309664.5	+	12	1458	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L	LMAN1L_ENST00000379709.3_Missense_Mutation_p.P428L|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	440						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCGGGGCCCGGCGGTGAGG	0.627000													4	68					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028764	59028764	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:59028764C>T	ENST00000594051.1	-	2	757	c.277G>A	c.(277-279)Gtt>Att	p.V93I	ZBTB45_ENST00000354590.3_Missense_Mutation_p.V93I|ZBTB45_ENST00000600990.1_Missense_Mutation_p.V93I			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	93	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		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;0.0165)|Lung(386;0.18)		TGCGCCACAACGAGCGAACCG	0.622000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	61					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530771	80530771	+	Silent	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:80530771G>A	ENST00000295057.3	-	2	830	c.174C>T	c.(172-174)acC>acT	p.T58T	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.T58T|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	58	LRRNT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.T58T(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGGGCGCCTCGGTGAGGTTGA	0.701000										HNSCC(69;0.2)			19	29					0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	226065	226065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:226065C>T	ENST00000397962.3	+	2	541	c.113C>T	c.(112-114)aCa>aTa	p.T38I	ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000602682.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000509513.2_Missense_Mutation_p.T38I|ZMYND11_ENST00000309776.4_5'UTR|ZMYND11_ENST00000558098.2_Missense_Mutation_p.T38I|ZMYND11_ENST00000403354.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000381591.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000397959.3_Missense_Mutation_p.T38I			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	0					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GACCGTATTACAAAGTAAGTA	0.363000													8	39					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56713674	56713674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:56713674C>T	ENST00000425394.2	-	21	3308	c.2932G>A	c.(2932-2934)Gat>Aat	p.D978N	PAN2_ENST00000257931.5_Missense_Mutation_p.D977N|PAN2_ENST00000440411.3_Missense_Mutation_p.D974N|PAN2_ENST00000548043.1_Missense_Mutation_p.D978N	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	978	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AACTCAGCATCCAGACCCACC	0.493000													9	40					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006739	34006739	+	Missense_Mutation	SNP	C	C	T	rs139840174		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:34006739C>T	ENST00000373381.4	-	59	9624	c.9448G>A	c.(9448-9450)Gtc>Atc	p.V3150I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3122	Sushi 25.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTTGCAGACGGGCTTGGTT	0.507000													15	76					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39521925	39521925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:39521925C>T	ENST00000292853.4	-	3	519	c.400G>A	c.(400-402)Gac>Aac	p.D134N	FBXO27_ENST00000509137.2_Missense_Mutation_p.D134N|CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000600828.1_Missense_Mutation_p.D133N	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	134	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCAGCCGTCCCCACCGTGT	0.567000													9	71					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425377	74425377	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:74425377G>T	ENST00000429990.1	+	7	827	c.731G>T	c.(730-732)gGc>gTc	p.G244V						nuclear pore complex interacting protein family, member B15																		AACAGGATGGGCCGCCAGCCA	0.537000													5	52					0.00307968	0.003208	1	1	0
BRINP2	57795	broad.mit.edu	37	1	177199063	177199063	+	Silent	SNP	C	C	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:177199063C>G	ENST00000361539.4	+	2	363	c.51C>G	c.(49-51)gcC>gcG	p.A17A		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		17						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CGGCGGTGGCCCCATGGACAG	0.662000													17	43					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24484594	24484594	+	Silent	SNP	T	T	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:24484594T>A	ENST00000355123.4	-	21	2816	c.2373A>T	c.(2371-2373)gtA>gtT	p.V791V	ITSN2_ENST00000361999.3_Silent_p.V764V|ITSN2_ENST00000406921.3_Silent_p.V791V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	791	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTTCTCCTACGGTTTTTT	0.333000													4	22					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413171	139413171	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:139413171A>T	ENST00000277541.6	-	6	1046	c.971T>A	c.(970-972)gTc>gAc	p.V324D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	324	EGF-like 8; calcium-binding (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			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAGCCGTTGACACACACGCA	0.617000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	54					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56647723	56647723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:56647723G>A	ENST00000394672.3	+	11	1581	c.1511G>A	c.(1510-1512)cGt>cAt	p.R504H	CCDC66_ENST00000436465.2_Missense_Mutation_p.R504H|CCDC66_ENST00000326595.7_Missense_Mutation_p.R470H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	504										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCACAGGAACGTGAAGAGATG	0.398000													6	63					0	0	1	0	0
CPEB2	132864	broad.mit.edu	37	4	15063859	15063859	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:15063859T>A	ENST00000538197.1	+	11	2852	c.2852T>A	c.(2851-2853)cTt>cAt	p.L951H	CPEB2_ENST00000507071.1_Missense_Mutation_p.L506H|CPEB2_ENST00000259997.5_Missense_Mutation_p.L514H|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.L924H|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.L479H|CPEB2_ENST00000345451.3_Missense_Mutation_p.L476H|CPEB2_ENST00000541112.1_Missense_Mutation_p.L943H|CPEB2_ENST00000382395.3_Missense_Mutation_p.L484H	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	506					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTTGTTCAGCTTCAGCATGGT	0.423000													43	107					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76376581	76376581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr6:76376581G>A	ENST00000370014.3	+	10	1767	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	SENP6_ENST00000370010.2_Missense_Mutation_p.R376H|SENP6_ENST00000447266.2_Missense_Mutation_p.R383H|SENP6_ENST00000327284.8_Missense_Mutation_p.R376H	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	383					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAGCAGAGCGTGAACTACGA	0.423000													8	57					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241685200	241685200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:241685200G>A	ENST00000498729.2	-	31	3575	c.3329C>T	c.(3328-3330)gCg>gTg	p.A1110V	KIF1A_ENST00000320389.7_Missense_Mutation_p.A1009V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1009					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GATGCTGGACGCCTGCAGGAC	0.627000													10	10					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	133087227	133087227	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:133087227G>C	ENST00000370818.3	-	2	632	c.187C>G	c.(187-189)Caa>Gaa	p.Q63E	GPC3_ENST00000394299.2_Missense_Mutation_p.Q63E|GPC3_ENST00000543339.1_Intron	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	63						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGACATACTTGCAAATCTGAT	0.473000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				10	74					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595653	82595653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:82595653G>A	ENST00000423517.2	-	4	3788	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S	PCLO_ENST00000333891.8_Missense_Mutation_p.P1151S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1090					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTGGGGAGGCACTGCTGTT	0.408000													11	37					0	0	1	0	0
GNG10	2790	broad.mit.edu	37	9	114429103	114429103	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:114429103G>T	ENST00000374293.4	+	2	390	c.90G>T	c.(88-90)caG>caT	p.Q30H	DNAJC25-GNG10_ENST00000374294.3_Missense_Mutation_p.Q115H|DNAJC25_ENST00000556107.1_Missense_Mutation_p.Q115H	NM_001017998.3|NM_001198664.1	NP_001017998.1|NP_001185593.1			guanine nucleotide binding protein (G protein), gamma 10											kidney(1)	1						AGGTCTCTCAGGCAGCTGCAG	0.532000													3	23					0.004672	0.00482645	1	1	0
C9	735	broad.mit.edu	37	5	39331863	39331863	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:39331863T>C	ENST00000263408.4	-	5	625	c.530A>G	c.(529-531)tAc>tGc	p.Y177C	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	177	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GAGTCCATTGTAGAACTCATT	0.438000													11	113					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833285	168833285	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:168833285C>T	ENST00000464456.1	-	7	3011	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	MECOM_ENST00000494292.1_Missense_Mutation_p.R792Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R604Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R605Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R669Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R605Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R604Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R604Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	13							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGGTTTTTTCGAGGCTCAGT	0.512000													8	35					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298775	125298775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:125298775C>T	ENST00000538699.1	-	2	1213	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R378H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	378								p.R378H(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTTCTGGGCGCGGATGTCATA	0.642000													15	71					0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8495604	8495604	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:8495604C>A	ENST00000602117.1	+	4	890	c.435C>A	c.(433-435)ttC>ttA	p.F145L	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.F145L|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.F145L			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	145					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TGGTGTGTTTCCTGTTCATCA	0.677000													23	48					7.33532e-06	7.97317e-06	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17322584	17322584	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:17322584G>A	ENST00000595618.1	+	39	6211	c.6059G>A	c.(6058-6060)gGt>gAt	p.G2020D	MYO9B_ENST00000397274.2_Missense_Mutation_p.G2020D|MYO9B_ENST00000594824.1_Splice_Site	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2020	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCTCGGAAGGTCAGTATTAA	0.677000													5	37					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243308	23243308	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:23243308C>T	ENST00000397532.3	-	9	1788	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	SLC7A7_ENST00000555702.1_Silent_p.P421P|SLC7A7_ENST00000285850.7_Silent_p.P421P|SLC7A7_ENST00000554517.1_Silent_p.P155P|SLC7A7_ENST00000397528.4_Silent_p.P421P|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Silent_p.P421P			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	421					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAAGACAATCGGGAAGAAAA	0.493000													11	50					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127624856	127624856	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:127624856C>A	ENST00000508053.1	-	58	7574	c.6600G>T	c.(6598-6600)atG>atT	p.M2200I	FBN2_ENST00000262464.4_Missense_Mutation_p.M2200I			P35556	FBN2_HUMAN	fibrillin 2	2200	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTTGTAGCCCATTGGACATT	0.398000													10	54					1.58986e-06	1.7744e-06	1	1	0
MCF2L2	23101	broad.mit.edu	37	3	182923983	182923983	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:182923983C>T	ENST00000328913.3	-	24	3029	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R911H	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	911	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCCAAGCTGGCGAATTGAAAG	0.423000													17	50					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39924151	39924151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:39924151G>A	ENST00000564288.1	+	90	21962	c.21185G>A	c.(21184-21186)cGc>cAc	p.R7062H	MACF1_ENST00000539005.1_Missense_Mutation_p.R4873H|MACF1_ENST00000567887.1_Missense_Mutation_p.R7099H|MACF1_ENST00000361689.2_Missense_Mutation_p.R5003H|MACF1_ENST00000289893.4_Missense_Mutation_p.R5505H|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003H|MACF1_ENST00000372915.3_Missense_Mutation_p.R6961H|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6961	EF-hand 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAAATCCCGCAGCGGAGGC	0.463000													5	39					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29736732	29736732	+	Silent	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:29736732G>A	ENST00000357586.2	-	14	2097	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Silent_p.L637L|AP1B1_ENST00000317368.7_Silent_p.L637L|AP1B1_ENST00000432560.2_Silent_p.L637L|AP1B1_ENST00000405198.1_Silent_p.L637L|AP1B1_ENST00000415447.1_Silent_p.L637L|AP1B1_ENST00000356015.2_Silent_p.L637L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	637	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGGGGGGCCGAGGTCCAGGT	0.672000													3	9					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96639226	96639226	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:96639226C>T	ENST00000518156.2	+	3	1179	c.749C>T	c.(748-750)gCg>gTg	p.A250V	DLX6_ENST00000555308.1_Missense_Mutation_p.A122V|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000007660.5_Missense_Mutation_p.A222V|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	132					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGCTCGCCAGCGCTGCCTCCA	0.592000													9	32					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	41					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528494	20528494	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:20528494C>T	ENST00000315683.1	+	1	291	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGGGGCTGCGTGACCCAGA	0.473000													9	81					0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2089926	2089926	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:2089926C>T	ENST00000219066.1	-	6	956	c.938G>A	c.(937-939)tGa>tAa	p.*313*	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	0					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						ATGCGGCCATCAGAGACCCTG	0.637000								Base excision repair (BER), DNA glycosylases					12	49					0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48309607	48309607	+	Silent	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:48309607A>G	ENST00000354698.3	+	4	498	c.426A>G	c.(424-426)gcA>gcG	p.A142A	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Silent_p.A141A|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	142					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCTGAAGCAGAAGATCAAC	0.502000													4	89					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48917266	48917266	+	Silent	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:48917266G>T	ENST00000263269.3	+	4	1192	c.1104G>T	c.(1102-1104)acG>acT	p.T368T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	368						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGAACATCACGTGGGATAACC	0.587000													3	19					0.115264	0.116194	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433016	55433016	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:55433016G>T	ENST00000314259.3	+	1	403	c.374G>T	c.(373-375)tGt>tTt	p.C125F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTGGCCATCTGTAAGCCCCTG	0.542000													4	65					0.00909568	0.00931934	1	1	0
DAK	26007	broad.mit.edu	37	11	61109957	61109957	+	Missense_Mutation	SNP	G	G	A	rs112089652	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:61109957G>A	ENST00000394900.3	+	8	909	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	227	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGGTGTGCGCCGGATAAAG	0.597000													18	121					0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113645252	113645252	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:113645252C>A	ENST00000546692.1	-	2	1093	c.720G>T	c.(718-720)agG>agT	p.R240S	IQCD_ENST00000416617.2_Missense_Mutation_p.R240S|IQCD_ENST00000299732.2_Missense_Mutation_p.R240S			Q96DY2	IQCD_HUMAN	IQ motif containing D	240										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CCTCTGCATTCCTGTTCTTCA	0.343000													12	43					0.0809354	0.0822514	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961658	34961658	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:34961658C>T	ENST00000329357.5	+	1	746	c.710C>T	c.(709-711)cCg>cTg	p.P237L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	237	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTCTCCACCCGGAACCTCCA	0.642000													5	45					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797046	41797046	+	Missense_Mutation	SNP	C	C	T	rs141045322		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr15:41797046C>T	ENST00000263800.6	-	17	2141	c.2045G>A	c.(2044-2046)cGg>cAg	p.R682Q	LTK_ENST00000453182.2_Missense_Mutation_p.R552Q|LTK_ENST00000561619.1_Missense_Mutation_p.R380Q|LTK_ENST00000355166.5_Missense_Mutation_p.R621Q	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	682	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GAGCAAGGCCCGGTCCCCCCT	0.587000										TSP Lung(18;0.14)			16	51					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17015155	17015155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:17015155C>T	ENST00000443236.1	-	32	4304	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1378						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTGTCATTTCCACCTCGGCC	0.612000													4	79					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112540010	112540010	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:112540010A>G	ENST00000341068.3	-	43	5910	c.5138T>C	c.(5137-5139)aTg>aCg	p.M1713T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1713					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTGCCATCCCATTGGATCTTC	0.413000													4	15					0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56526784	56526784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:56526784C>T	ENST00000424459.3	+	4	1449	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	GPBP1_ENST00000511209.1_Missense_Mutation_p.R66C|GPBP1_ENST00000264779.6_Missense_Mutation_p.R66C|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000454432.2_Missense_Mutation_p.R59C|GPBP1_ENST00000506184.2_Missense_Mutation_p.R59C|GPBP1_ENST00000538707.1_Missense_Mutation_p.R66C	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TGCTATTGGGCGTCCTAATGG	0.353000													26	57					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100080769	100080769	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:100080769C>T	ENST00000375202.2	+	24	2468	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.I511I|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000411667.2_Silent_p.I369I|CCDC180_ENST00000529487.1_Silent_p.I372I|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		GTGAGAGTATCCATACTCCCC	0.557000													9	35					0	0	1	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166876	96166876	+	Silent	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr8:96166876C>A	ENST00000315367.3	+	2	845	c.604C>A	c.(604-606)Cgg>Agg	p.R202R	PLEKHF2_ENST00000519516.1_Silent_p.R202R	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	202						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					TAAGCCTGTGCGGATTTGTGA	0.502000													19	89					5.35267e-07	6.02778e-07	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539850	56539850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:56539850G>A	ENST00000390649.3	+	7	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	751						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGTCCGCTGAGGCATGTCC	0.522000													8	188					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171897	34171897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:34171897G>T	ENST00000588240.1	+	15	1709	c.1594G>T	c.(1594-1596)Gga>Tga	p.G532*	TAF15_ENST00000311979.3_Nonsense_Mutation_p.G529*|TAF15_ENST00000592237.1_Missense_Mutation_p.M336I	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	532	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGGGGGCTATGGAGGAGACCG	0.617000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								27	72					3.73148e-12	4.31884e-12	1	1	0
MAP4K4	9448	broad.mit.edu	37	2	102476320	102476320	+	Silent	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:102476320G>T	ENST00000413150.2	+	15	1660	c.1605G>T	c.(1603-1605)gcG>gcT	p.A535A	MAP4K4_ENST00000350198.4_Silent_p.A535A|MAP4K4_ENST00000324219.4_Silent_p.A566A|MAP4K4_ENST00000425019.1_Silent_p.A535A|MAP4K4_ENST00000302217.5_Silent_p.A419A|MAP4K4_ENST00000347699.4_Silent_p.A566A|MAP4K4_ENST00000350878.4_Silent_p.A515A|MAP4K4_ENST00000456652.1_Silent_p.A419A	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	573					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGACCGAGCGCGAGAGGTAT	0.557000													4	9					0.00024832	0.000263051	1	1	0
ADD2	119	broad.mit.edu	37	2	70919573	70919573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:70919573G>A	ENST00000264436.3	-	7	1111	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	ADD2_ENST00000355733.3_Missense_Mutation_p.R223C|ADD2_ENST00000430656.1_Missense_Mutation_p.R239C|ADD2_ENST00000407644.2_Missense_Mutation_p.R223C|ADD2_ENST00000413157.2_Missense_Mutation_p.R223C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	223					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.R223C(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGATGCAGCGCACGTCGGGC	0.607000													3	13					0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65239681	65239681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr15:65239681G>A	ENST00000380230.3	+	13	1248	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.E284K|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E407K|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E375K	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	407					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CCATCGGCAGGAAACACAGCA	0.582000													5	20					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100549862	100549862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:100549862C>T	ENST00000379458.4	+	2	443	c.443C>T	c.(442-444)aCg>aTg	p.148_148insM	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGTGTGACCACGACGCAGGTG	0.537000													5	62					0	0	1	0	0
C2orf88	84281	broad.mit.edu	37	2	191064798	191064798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:191064798G>A	ENST00000340623.4	+	2	623	c.212G>A	c.(211-213)tGt>tAt	p.C71Y	C2orf88_ENST00000409870.1_Missense_Mutation_p.C71Y|C2orf88_ENST00000396974.2_Missense_Mutation_p.C71Y|C2orf88_ENST00000443551.2_Missense_Mutation_p.C71Y	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	71										kidney(1)|large_intestine(1)|lung(1)	3						GATATCTTGTGTGATGCCTTG	0.463000													15	126					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42190404	42190404	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:42190404C>T	ENST00000401548.3	+	28	3497	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W	MEI1_ENST00000400107.1_Missense_Mutation_p.R486W|MEI1_ENST00000300398.4_Missense_Mutation_p.R161W|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1153							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCTTGGAATCGGTTTTTGCT	0.493000													9	112					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230822855	230822855	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:230822855G>T	ENST00000534989.1	+	13	1713	c.1378G>T	c.(1378-1380)Gac>Tac	p.D460Y	COG2_ENST00000366669.4_Missense_Mutation_p.D519Y|COG2_ENST00000366668.3_Missense_Mutation_p.D519Y|COG2_ENST00000535166.1_Missense_Mutation_p.D403Y|COG2_ENST00000546013.1_Missense_Mutation_p.D208Y			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	519					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGTGGTTGCAGACCTGGACAA	0.473000													14	34					1.52009e-12	1.77581e-12	1	1	0
CACNA1G	8913	broad.mit.edu	37	17	48685231	48685231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:48685231C>T	ENST00000352832.5	+	24	4859	c.4487C>T	c.(4486-4488)tCg>tTg	p.S1496L	CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1496L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1496L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1496L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1519L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1496L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1519L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1496L|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1519L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1496L|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1519L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1519					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TACTTCATCTCGTTCCTGCTC	0.577000													20	49					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276411	18276411	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:18276411A>T	ENST00000377369.2	+	7	1373	c.1100A>T	c.(1099-1101)tAc>tTc	p.Y367F	SLC39A12_ENST00000539911.1_Missense_Mutation_p.Y233F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Y367F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Y367F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	367					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GACTTAGAATACGGCTACAGC	0.527000													17	43					0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112266802	112266802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:112266802G>A	ENST00000369583.3	+	3	922	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	213	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AATGTCTCCCGACGGACCTCC	0.547000													18	226					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349045	30349045	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:30349045G>T	ENST00000327564.7	+	1	1022	c.961G>T	c.(961-963)Gag>Tag	p.E321*	LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.E212*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.E294*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.E306*|LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.E294*			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	294						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCTCCCTCAGGAGGTAGAACC	0.527000													25	64					1.42536e-11	1.63458e-11	1	1	0
OBP2A	29991	broad.mit.edu	37	9	138439759	138439759	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:138439759C>T	ENST00000539850.1	+	4	346	c.320C>T	c.(319-321)aCg>aTg	p.T107M	OBP2A_ENST00000342114.4_Silent_p.D62D|OBP2A_ENST00000340780.3_Missense_Mutation_p.T107M|OBP2A_ENST00000371776.1_Missense_Mutation_p.T107M			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	107					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCCCGGGACGGACGACTAC	0.607000													6	35					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103780431	103780431	+	Silent	SNP	T	T	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:103780431T>A	ENST00000302251.5	-	7	1537	c.1086A>T	c.(1084-1086)ccA>ccT	p.P362P	PDGFD_ENST00000393158.2_Silent_p.P368P	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	368					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CTTATCGAGGTGGTCTTGAGC	0.458000													5	94					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108953	147108953	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:147108953C>T	ENST00000383075.3	-	4	1281	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	ZIC4_ENST00000473123.1_Missense_Mutation_p.V257M|ZIC4_ENST00000525172.2_Missense_Mutation_p.V307M|ZIC4_ENST00000425731.3_Missense_Mutation_p.V295M|ZIC4_ENST00000491672.1_Missense_Mutation_p.V51M|ZIC4_ENST00000484399.1_Missense_Mutation_p.V257M|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	257						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CTAGTGTGCACGTGCGAATGC	0.632000													4	36					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48594771	48594771	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:48594771C>G	ENST00000323776.5	+	3	613	c.451C>G	c.(451-453)Cct>Gct	p.P151A	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P114A	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	114					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGTAGCACGTCCTGCGAATCC	0.493000													27	90					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530154	80530154	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:80530154G>A	ENST00000295057.3	-	2	1447	c.791C>T	c.(790-792)tCg>tTg	p.S264L	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S264L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	264						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTCGTTGCCCGACAAGTCCAT	0.607000										HNSCC(69;0.2)			3	51					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149225445	149225445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:149225445G>A	ENST00000309241.5	+	11	2971	c.2939G>A	c.(2938-2940)cGg>cAg	p.R980Q	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R916Q|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R980Q|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R941Q	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	980					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGGGCTCCGGCACTTCTGC	0.587000													8	66					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	47					0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32622463	32622463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:32622463C>T	ENST00000373625.3	+	3	241	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.R47W|KPNA6_ENST00000545542.1_Missense_Mutation_p.R55W	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	50	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCTTTTTAAACGGAGAAATGT	0.408000													6	44					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085815	44085815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:44085815G>A	ENST00000359947.4	+	30	5501	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1080K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1712K|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1712K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1721K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1721	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E1711Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAGAGCACCGAGGACTTCTG	0.592000													4	101					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6576961	6576961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:6576961delG	ENST00000285599.3	+	1	60	c.24delG	c.(22-24)ccfs	p.P8fs	MAN2B2_ENST00000504248.1_Frame_Shift_Del_p.P8fs	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	8					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCTGGCTGCCGCTGCTGGCAC	0.771													2	4	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153250891	153250910	+	Frame_Shift_Del	DEL	CAAAACTGTAAGCATGTGAT	CAAAACTGTAAGCATGTGAT	-			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:153250891_153250910delCAAAACTGTAAGCATGTGAT	ENST00000281708.4	-	8	2379_2398	c.1150_1169delATCACATGCTTACAGTTTTG	c.(1150-1170)tfs	p.ITCLQFC384fs	FBXW7_ENST00000296555.5_Frame_Shift_Del_p.ITCLQFC266fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.ITCLQFC208fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.ITCLQFC384fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.ITCLQFC304fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.ITCLQFC384fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	384					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.C386W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCGGTTACCACAAAACTGTAAGCATGTGATCACATGATCA	0.341			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								7	60	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													4	6	---	---	---	---					
AC118138.2	0	broad.mit.edu	37	7	74776112	74776113	+	RNA	INS	-	-	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:74776112_74776113insA	ENST00000420642.1	+	0	554																											aaaaacaaaacaaaaaaaaaac	0.401													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578495	7578496	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:7578495_7578496insA	ENST00000420246.2	-	5	566_567	c.434_435insT	c.(433-435)ctgfs	p.L145fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.L145fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L145fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	145	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.L145L(4)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.L145del(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		AATCAACCCACAGCTGCACAGG	0.604		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			22	35	---	---	---	---