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
ARID2	196528	broad.mit.edu	37	12	46240643	46240643	+	Silent	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr12:46240643C>T	ENST00000334344.6	+	12	1675	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	ARID2_ENST00000444670.1_Silent_p.S111S|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.S352S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	501					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTTTAGCTTCCAGAGCAGTTG	0.348000			"""N, S, F"""		hepatocellular carcinoma								9	73					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87728886	87728886	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr4:87728886A>G	ENST00000436978.1	+	45	7414	c.6934A>G	c.(6934-6936)Atg>Gtg	p.M2312V	PTPN13_ENST00000411767.2_Missense_Mutation_p.M2307V|PTPN13_ENST00000511467.1_Missense_Mutation_p.M2312V|PTPN13_ENST00000316707.6_Missense_Mutation_p.M2116V|PTPN13_ENST00000427191.2_Missense_Mutation_p.M2288V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2307	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTGATAGCCATGATGACTCA	0.458000													14	188					0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61662625	61662625	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr17:61662625A>G	ENST00000310827.4	+	7	1008	c.791A>G	c.(790-792)aAc>aGc	p.N264S	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.N64S|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	264					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						AGGTTAAACAACCATCGAGCA	0.498000													15	90					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													12	70					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344845	23344845	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr14:23344845C>T	ENST00000359591.4	+	5	1379	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	LRP10_ENST00000546834.1_Missense_Mutation_p.R230W	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	230	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCATGATGGCCGGCGGCTGGC	0.627000													5	170					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153860	5153860	+	Missense_Mutation	SNP	G	G	A	rs147601692		TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr12:5153860G>A	ENST00000252321.3	+	1	776	c.547G>A	c.(547-549)Ggc>Agc	p.G183S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	183						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCAGTCCGGGGGCCGCCTGCG	0.652000													10	117					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16359708	16359708	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr1:16359708T>C	ENST00000375692.1	+	20	2098	c.1970T>C	c.(1969-1971)gTg>gCg	p.V657A	CLCNKA_ENST00000439316.2_Missense_Mutation_p.V615A|CLCNKA_ENST00000331433.4_Missense_Mutation_p.V658A|CLCNKA_ENST00000420078.1_Missense_Mutation_p.V657A|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	658	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCTCTTCGTGACATCGCGG	0.612000											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	341					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374971	8374971	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr12:8374971C>T	ENST00000538603.1	-	7	1400	c.842G>A	c.(841-843)gGc>gAc	p.G281D	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G281D	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	281							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGATTGGAGCCTAGGCCCAA	0.642000													9	74					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_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					8	76					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7836545	7836545	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr17:7836545G>T	ENST00000380262.3	+	1	1073	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	CNTROB_ENST00000380255.3_Missense_Mutation_p.A50S|CNTROB_ENST00000565740.1_Missense_Mutation_p.A50S|CNTROB_ENST00000563694.1_Missense_Mutation_p.A50S	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	50					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGGCGGAGGCCACGGCCCG	0.582000													8	146					0.0581538	0.0594754	1	1	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr17:7578271T>G	ENST00000420246.2	-	6	710	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000269305.4_Missense_Mutation_p.H193P|TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	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)			25	34					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17745913	17745913	+	Silent	SNP	C	C	T	rs111534978	byFrequency	TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chrX:17745913C>T	ENST00000380060.3	+	6	3962	c.3624C>T	c.(3622-3624)tgC>tgT	p.C1208C	NHS_ENST00000398097.3_Silent_p.C1052C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1208						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGAATCGCTGCGATCCAGAAA	0.408000													31	155					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465	by1000genomes	TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1																						TGATTTTCTTCGCACTGATCC	0.408000													3	52					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46895420	46895420	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr21:46895420G>A	ENST00000359759.4	+	4	2035	c.2014G>A	c.(2014-2016)Gac>Aac	p.D672N	COL18A1_ENST00000355480.5_Missense_Mutation_p.D437N|COL18A1_ENST00000400337.2_Missense_Mutation_p.D257N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	672	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGGGCTCGGGGACGCCCGGGA	0.701000													4	18					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29533382	29533382	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr1:29533382C>T	ENST00000373791.3	-	4	586	c.214G>A	c.(214-216)Gca>Aca	p.A72T	MECR_ENST00000263702.6_Missense_Mutation_p.A148T|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	148					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TGGATCAGTGCTTCCTCGCTG	0.557000													13	118					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515257	102515257	+	RNA	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr15:102515257C>T	ENST00000557932.1	+	0	1103																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCCGGTGGCCGGGCCACTCT	0.647000													3	24					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999131	143999131	+	Silent	SNP	G	G	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr8:143999131G>T	ENST00000323110.2	-	1	128	c.126C>A	c.(124-126)ccC>ccA	p.P42P		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	42					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTGGATGCTGGGGCATGGCTT	0.652000									Familial Hyperaldosteronism type I				6	135					3.59834e-05	4.04813e-05	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													5	57					1	1	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_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					7	76					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128335741	128335741	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr2:128335741G>A	ENST00000389524.4	+	9	936	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	MYO7B_ENST00000428314.1_Missense_Mutation_p.A295T|MYO7B_ENST00000409816.2_Missense_Mutation_p.A295T			Q6PIF6	MYO7B_HUMAN	myosin VIIB	295	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.A295S(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTCAACGACGCCAAGGACTA	0.632000													18	41					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374772	8374772	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr12:8374772C>A	ENST00000538603.1	-	7	1599	c.1041G>T	c.(1039-1041)caG>caT	p.Q347H	FAM90A1_ENST00000307435.6_Missense_Mutation_p.Q347H	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	347							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCGTGCCTGTCTGGGGTGACG	0.667000													11	76					2.32078e-09	2.78494e-09	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33235745	33235745	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr1:33235745C>G	ENST00000401073.2	+	6	1035	c.965C>G	c.(964-966)tCc>tGc	p.S322C	KIAA1522_ENST00000373480.1_Missense_Mutation_p.S263C|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S274C|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	263	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CGGCCCATGTCCCTAGCAGTG	0.647000													6	144					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210095	28210095	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr21:28210095G>A	ENST00000284984.2	-	9	3161	c.2707C>T	c.(2707-2709)Cct>Tct	p.P903S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	903	TSP type-1 2.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TCTGCACAAGGTCTGGTGCTG	0.517000													22	125					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38151586	38151586	+	Silent	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr22:38151586C>T	ENST00000406386.3	+	15	5862	c.5607C>T	c.(5605-5607)gcC>gcT	p.A1869A	TRIOBP_ENST00000407319.2_Silent_p.A156A|TRIOBP_ENST00000403663.2_Silent_p.A156A|RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1869	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTTGTCGGCCATGACCTCAG	0.582000													9	73					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056591	9056591	+	Silent	SNP	G	G	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr19:9056591G>T	ENST00000397910.4	-	3	31058	c.30855C>A	c.(30853-30855)gcC>gcA	p.A10285A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10287	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAAGTCATGGCCTCTGATA	0.493000													19	87					6.33239e-15	7.70155e-15	1	1	0
RSPH4A	345895	broad.mit.edu	37	6	116949404	116949404	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr6:116949404G>A	ENST00000229554.5	+	3	1671	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	RSPH4A_ENST00000368581.4_Missense_Mutation_p.E512K|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	512	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGAAGGAGAGGAGGAGGAAGA	0.438000									Kartagener syndrome				8	78					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													3	39					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100431465	100431465	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr12:100431465G>C	ENST00000279907.7	-	21	4556	c.4344C>G	c.(4342-4344)caC>caG	p.H1448Q	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.H1098Q	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1448										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTTTCCAAGTGAGCCTCTG	0.398000													17	84					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37153852	37153852	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr5:37153852T>C	ENST00000274258.7	-	41	8482	c.4895A>G	c.(4894-4896)cAt>cGt	p.H1632R	C5orf42_ENST00000508244.1_Missense_Mutation_p.H2734R|C5orf42_ENST00000425232.2_Missense_Mutation_p.H2734R			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2734										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTATCACAATGTAGATCTAG	0.333000													36	61					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47726107	47726107	+	Silent	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr1:47726107G>A	ENST00000360380.3	-	17	3294	c.2931C>T	c.(2929-2931)taC>taT	p.Y977Y	STIL_ENST00000371877.3_Silent_p.Y978Y|STIL_ENST00000396221.2_Silent_p.Y960Y|STIL_ENST00000337817.5_Silent_p.Y977Y|STIL_ENST00000243182.6_Silent_p.Y977Y			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	977					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTTGTATGGTAAACGTTTT	0.373000													10	176					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150747900	150747900	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr7:150747900A>G	ENST00000357922.4	+	4	1463	c.869A>G	c.(868-870)aAc>aGc	p.N290S	ASIC3_ENST00000349064.5_Missense_Mutation_p.N290S|ASIC3_ENST00000297512.8_Missense_Mutation_p.N290S	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	290					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CTGAACCCCAACTATGAGCCA	0.642000													10	55					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27147316	27147316	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr11:27147316G>C	ENST00000263182.3	+	8	1320	c.952G>C	c.(952-954)Gtt>Ctt	p.V318L	BBOX1_ENST00000529202.1_Missense_Mutation_p.V318L|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.V318L|BBOX1_ENST00000528583.1_Missense_Mutation_p.V318L|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	318					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GAAGGAGTTTGTTGACCTCAT	0.388000													4	66					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223680	67223680	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr11:67223680G>A	ENST00000438189.2	+	3	417	c.73G>A	c.(73-75)Gag>Aag	p.E25K	CABP4_ENST00000325656.5_Missense_Mutation_p.E130K			P57796	CABP4_HUMAN	calcium binding protein 4	130					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGGCCCCGAGGAGCTAGACGG	0.657000													27	135					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11660260	11660260	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr19:11660260G>A	ENST00000592923.1	+	7	1051	c.474G>A	c.(472-474)atG>atA	p.M158I	CNN1_ENST00000535659.2_Missense_Mutation_p.M158I|CNN1_ENST00000252456.2_Missense_Mutation_p.M208I|CNN1_ENST00000544952.1_Missense_Mutation_p.M188I			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	208					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCTGCAGATGGGCACCAACA	0.692000													16	39					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1218477	1218477	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr19:1218477T>C	ENST00000326873.7	+	2	1525	c.352T>C	c.(352-354)Tac>Cac	p.Y118H	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	118	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGTGTTATACAACGAAGA	0.577000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			9	179					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624019	92624019	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr11:92624019G>A	ENST00000298047.6	+	27	13527	c.13510G>A	c.(13510-13512)Gat>Aat	p.D4504N	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.D4354N|FAT3_ENST00000533797.1_Missense_Mutation_p.D807N|FAT3_ENST00000409404.2_Missense_Mutation_p.D4472N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4504	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAACGAAACGGATTTGGTGGG	0.587000										TCGA Ovarian(4;0.039)			8	47					0	0	1	0	0
PSMB5	5693	broad.mit.edu	37	14	23503986	23503986	+	Silent	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr14:23503986G>A	ENST00000361611.6	-	1	368	c.105C>T	c.(103-105)ctC>ctT	p.L35L	PSMB5_ENST00000493471.2_Silent_p.L35L|PSMB5_ENST00000460922.2_Silent_p.L35L|PSMB5_ENST00000425762.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	35					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|interspecies interaction between organisms|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	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	GACCATCACTGAGACTCCCTG	0.602000													8	79					0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114523872	114523872	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr13:114523872G>A	ENST00000357389.3	-	15	2283	c.2131C>T	c.(2131-2133)Cac>Tac	p.H711Y	GAS6_ENST00000355761.4_Missense_Mutation_p.H614Y|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.H668Y|GAS6_ENST00000450766.1_Missense_Mutation_p.H395Y|GAS6_ENST00000418959.3_Missense_Mutation_p.H369Y			Q14393	GAS6_HUMAN	growth arrest-specific 6	711	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGGCAGGAGTGGGCCGTGATG	0.701000													9	89					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3729932	3729932	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr20:3729932G>T	ENST00000254963.2	+	9	1049	c.904G>T	c.(904-906)Ggc>Tgc	p.G302C	HSPA12B_ENST00000542646.1_Missense_Mutation_p.G136C	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	302							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GGTGGAGTCAGGCGTAGGAGA	0.622000													9	24					3.86212e-05	4.29124e-05	1	1	0
NIPAL3	57185	broad.mit.edu	37	1	24779953	24779953	+	Missense_Mutation	SNP	C	C	G	rs140449002	by1000genomes	TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr1:24779953C>G	ENST00000003912.3	+	8	1065	c.350C>G	c.(349-351)gCc>gGc	p.A117G	NIPAL3_ENST00000339255.2_Missense_Mutation_p.A199G|NIPAL3_ENST00000374399.4_Missense_Mutation_p.A199G|NIPAL3_ENST00000358028.4_Missense_Mutation_p.A199G|NIPAL3_ENST00000428131.1_Missense_Mutation_p.A199G			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	199						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GAGAAGAACGCCAACAACATT	0.493000													3	39					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250526	140250526	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr5:140250526C>T	ENST00000398640.2	+	1	1838	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAGCCGGCGGCGGGCGGC	0.682000													9	162					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652000													5	347					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800926	21800926	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr22:21800926G>A	ENST00000443632.2	+	2	2114	c.1742G>A	c.(1741-1743)cGt>cAt	p.R581H	HIC2_ENST00000407464.2_Missense_Mutation_p.R581H|HIC2_ENST00000407598.2_Missense_Mutation_p.R581H			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	581					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	p.R581H(1)		NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAGCACATGCGTGTGCACTCG	0.642000													14	101					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324243	27324243	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr10:27324243C>A	ENST00000376087.4	-	24	3301	c.3136G>T	c.(3136-3138)Gac>Tac	p.D1046Y	ANKRD26_ENST00000376070.3_Missense_Mutation_p.D603Y|ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1062Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1045						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCATTTTGTCCTGTAAACGA	0.338000													9	69					0.000274275	0.000297407	1	1	0
TRPV1	7442	broad.mit.edu	37	17	3477171	3477171	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr17:3477171G>A	ENST00000174621.6	-	12	2142	c.1853C>T	c.(1852-1854)gCc>gTc	p.A618V	TRPV1_ENST00000399759.3_Missense_Mutation_p.A620V|TRPV1_ENST00000425167.2_Missense_Mutation_p.A631V|TRPV1_ENST00000399756.4_Missense_Mutation_p.A620V|TRPV1_ENST00000310522.5_Missense_Mutation_p.A560V|TRPV1_ENST00000576351.1_Missense_Mutation_p.A610V|TRPV1_ENST00000571088.1_Missense_Mutation_p.A620V|SHPK_ENST00000572705.1_Missense_Mutation_p.A620V			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	620					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGGCCTGCAGGCAGGCCCCCG	0.627000													7	43					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022450	31022450	+	Silent	SNP	T	T	G			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr20:31022450T>G	ENST00000375687.4	+	13	2359	c.1935T>G	c.(1933-1935)ggT>ggG	p.G645G	ASXL1_ENST00000306058.5_Silent_p.G640G	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	645	Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G646fs*12(247)|p.T639_G659>PPWD(1)|p.A640_S664>PCSGG(1)|p.T639_P647>PPSDGS(1)		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						GAGGGGGGGGTGGCCCGGGTG	0.697000			"""F, N, Mis"""		"""MDS, CMML"""								7	19					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23346288	23346288	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr20:23346288G>A	ENST00000338121.5	+	2	1345	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.R423Q			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	423					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ACAGCGCTGCGGCTGCACGAG	0.697000													16	124					0	0	1	0	0
HIST1H3A	8350	broad.mit.edu	37	6	26020797	26020797	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr6:26020797G>A	ENST00000357647.3	+	1	80	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	27					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AAGGCAGCCCGCAAAAGCGCT	0.622000													4	153					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247075	56247075	+	Silent	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr18:56247075G>A	ENST00000361673.3	-	4	1146	c.933C>T	c.(931-933)tgC>tgT	p.C311C		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	311							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTATCTCTGGGCAAAGTTCAT	0.478000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	119					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													4	48					0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52194165	52194165	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr15:52194165G>A	ENST00000308580.7	+	9	1237	c.956G>A	c.(955-957)gGa>gAa	p.G319E	TMOD3_ENST00000544199.1_Missense_Mutation_p.G319E	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	319						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		CTTAAATTTGGATATCAGTTT	0.383000													20	57					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116930913	116930913	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr10:116930913G>T	ENST00000355044.3	+	8	1337	c.1211G>T	c.(1210-1212)gGa>gTa	p.G404V	ATRNL1_ENST00000527407.1_Missense_Mutation_p.D375Y|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	404						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACTGTTCTTGGACATGGTCAG	0.378000													9	129					5.4927e-09	6.42004e-09	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9044646	9044646	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr5:9044646C>T	ENST00000382496.5	-	22	3609	c.2944G>A	c.(2944-2946)Ggc>Agc	p.G982S	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	982					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGGAGGCAGCCGAGGATGGAG	0.562000													11	137					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100431466	100431466	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr12:100431466T>A	ENST00000279907.7	-	21	4555	c.4343A>T	c.(4342-4344)cAc>cTc	p.H1448L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.H1098L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1448										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTTTCCAAGTGAGCCTCTGC	0.398000													17	84					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587471	247587471	+	Silent	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr1:247587471C>T	ENST00000366497.2	+	4	1506	c.726C>T	c.(724-726)gaC>gaT	p.D242D	NLRP3_ENST00000391828.3_Silent_p.D242D|NLRP3_ENST00000391827.2_Silent_p.D242D|NLRP3_ENST00000348069.2_Silent_p.D242D|NLRP3_ENST00000336119.3_Silent_p.D242D|NLRP3_ENST00000366496.2_Silent_p.D242D|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	242	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGATGTTGGACTGGGCGTCGG	0.557000													4	103					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65850461	65850461	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr17:65850461A>C	ENST00000321892.4	+	2	1080	c.1019A>C	c.(1018-1020)tAc>tCc	p.Y340S	BPTF_ENST00000335221.5_Missense_Mutation_p.Y340S|BPTF_ENST00000424123.3_Missense_Mutation_p.Y201S|BPTF_ENST00000306378.6_Missense_Mutation_p.Y340S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	340					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATAAGGAGTACCATCACGTT	0.453000													17	84					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497435	157497435	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr1:157497435G>C	ENST00000361835.3	-	9	2089	c.1932C>G	c.(1930-1932)caC>caG	p.H644Q	FCRL5_ENST00000356953.4_Missense_Mutation_p.H644Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.H644Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.H559Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	644	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTGTGTCACTGTGCTGGGCCA	0.468000													45	144					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239508	125239508	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr9:125239508C>A	ENST00000259357.2	-	1	727	c.698G>T	c.(697-699)gGc>gTc	p.G233V		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TTTGCATATGCCCTTGGTAGA	0.468000													12	68					0.00136819	0.00146592	1	1	0
CNNM4	26504	broad.mit.edu	37	2	97427664	97427664	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr2:97427664A>T	ENST00000377075.2	+	1	1026	c.928A>T	c.(928-930)Atg>Ttg	p.M310L		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	310	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CAAATTCTTTATGCTACTCAC	0.522000													30	125					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503807	140503807	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr5:140503807A>T	ENST00000194152.1	+	1	2227	c.2227A>T	c.(2227-2229)Acc>Tcc	p.T743S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		743					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCACCGGGACCCTGTCCCA	0.612000													37	262					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374849	8374849	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr12:8374849C>T	ENST00000538603.1	-	7	1522	c.964G>A	c.(964-966)Gga>Aga	p.G322R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G322R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	322							nucleic acid binding|zinc ion binding	p.G322R(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGCTCACCTCCCTGGATGGCG	0.637000													10	58					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chrX:155255062C>G	ENST00000285718.7	+	0	1367				WASH6P_ENST00000461007.1_RNA																							CACCTTCCCCCCCAGACCCAG	0.627000													7	33					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55110999	55110999	+	Splice_Site	SNP	T	T	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr5:55110999T>C	ENST00000505374.1	+	20	2078	c.1986_splice	c.e20+1	p.D662_splice	DDX4_ENST00000514278.2_Splice_Site_p.D642_splice|DDX4_ENST00000354991.5_Splice_Site_p.D628_splice|DDX4_ENST00000511853.1_Splice_Site_p.D513_splice|DDX4_ENST00000353507.5_Splice_Site_p.D628_splice	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	662	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TATTGACAGATGTAAGTTAAA	0.338000													14	160					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chrX:155255043G>A	ENST00000285718.7	+	0	1348				WASH6P_ENST00000461007.1_RNA																							ATCCTAGGGGGCTCCATGACA	0.642000													4	33					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28326979	28326979	+	Silent	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr15:28326979C>T	ENST00000354638.3	-	2	197	c.42G>A	c.(40-42)gcG>gcA	p.A14A	OCA2_ENST00000353809.5_Silent_p.A14A|OCA2_ENST00000382996.2_Silent_p.A14A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	14					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCACCGCCGGCGCGCCGGGGT	0.657000									Oculocutaneous Albinism				5	36					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107677954	107677954	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr7:107677954C>T	ENST00000388781.3	-	30	4641	c.4558G>A	c.(4558-4560)Gat>Aat	p.D1520N	LAMB4_ENST00000388780.3_Missense_Mutation_p.D1520N|LAMB4_ENST00000205386.4_Missense_Mutation_p.D1520N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1520	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACAAGTTCATCGGTTAGATTT	0.408000													24	305					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67260433	67260433	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr11:67260433G>A	ENST00000356404.3	-	23	3668	c.3443C>T	c.(3442-3444)gCc>gTc	p.A1148V	PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1147V|PITPNM1_ENST00000534749.1_Missense_Mutation_p.A1148V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1148					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTTCCGCACGGCACGGCCCAC	0.647000													5	226					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	rs121913416		TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr3:41266113C>T	ENST00000349496.5	+	3	390	c.110C>T	c.(109-111)tCt>tTt	p.S37F	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				12	44					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31							gamma-glutamyltransferase activity	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622000													4	129					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858372	9858372	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr16:9858372G>C	ENST00000396573.2	-	14	3338	c.3029C>G	c.(3028-3030)cCc>cGc	p.P1010R	GRIN2A_ENST00000535259.1_Missense_Mutation_p.P853R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1010R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1010R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1010R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1010R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1010					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGCTGCCGGGGTCTAGAGTT	0.517000													27	129					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069729	153069729	+	Silent	SNP	C	C	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chrX:153069729C>T	ENST00000164640.4	-	8	1580	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	PDZD4_ENST00000393758.2_Silent_p.S388S|PDZD4_ENST00000544474.1_Silent_p.S354S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	463						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCTTGTCCGACTTCTCGG	0.682000													15	48					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565409	18565409	+	Silent	SNP	A	A	G	rs143494999	by1000genomes	TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr17:18565409A>G	ENST00000545289.1	-	5	1660	c.1410T>C	c.(1408-1410)agT>agC	p.S470S		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTCCACACTCACTACATTTGT	0.393000													6	42					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034341	150034341	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr7:150034341G>C	ENST00000359623.4	+	3	979	c.391G>C	c.(391-393)Gac>Cac	p.D131H	LRRC61_ENST00000323078.7_Missense_Mutation_p.D131H|LRRC61_ENST00000493307.1_Missense_Mutation_p.D131H	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	131										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCGGCTCCGAGACCCTTTGGC	0.657000													13	75					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228145653	228145653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr2:228145653delG	ENST00000396578.3	+	31	2581	c.2419delG	c.(2419-2421)gafs	p.G807fs	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	807	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGACCCCCAGGAAGGTGCAT	0.532													2	4	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	94	---	---	---	---					
CHD7	55636	broad.mit.edu	37	8	61693942	61693943	+	In_Frame_Ins	INS	-	-	AAAGCA			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr8:61693942_61693943insAAAGCA	ENST00000423902.2	+	3	2528_2529	c.2049_2050insAAAGCA	c.(2047-2052)aaaagc>aaAAAGCAaagc	p.683_684KS>KKQS	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_In_Frame_Ins_p.683_684KS>KKQS	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	683	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAAGGAAAAGAAAGCAAAAAC	0.450													5	10	---	---	---	---					
VCP	7415	broad.mit.edu	37	9	35059646	35059647	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr9:35059646_35059647insT	ENST00000358901.6	-	14	2742_2743	c.1847_1848insA	c.(1846-1848)agtfs	p.S616fs		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	616					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.N616fs*63(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGAACACATTTTTTTTTGT	0.515													7	158	---	---	---	---					
OR7C1	26664	broad.mit.edu	37	19	14910637	14910638	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr19:14910637_14910638insA	ENST00000248073.2	-	1	385_386	c.311_312insT	c.(310-312)tacfs	p.Y104fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	104					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CAAATGAAGTGAAAAAAAAAAT	0.446													7	62	---	---	---	---					
CHEK2	11200	broad.mit.edu	37	22	29115444	29115444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8280-01A-11D-2284-08	TCGA-86-8280-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c6c8e3-0719-4861-baec-7ab5cfea3807	73f42f54-7a42-4004-a53f-9c0237d6f6cb	g.chr22:29115444delC	ENST00000382580.2	-	6	826	c.751delG	c.(751-753)atfs	p.D251fs	CHEK2_ENST00000382578.1_Frame_Shift_Del_p.D117fs|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.D208fs|CHEK2_ENST00000328354.6_Frame_Shift_Del_p.D208fs|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.D208fs|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.D117fs|CHEK2_ENST00000405598.1_Frame_Shift_Del_p.D208fs|CHEK2_ENST00000382566.1_Frame_Shift_Del_p.D208fs|CHEK2_ENST00000348295.3_Frame_Shift_Del_p.D208fs|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382565.1_Intron	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	208	Protein kinase.		I -> F (in prostate cancer; germline mutation).		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			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ACTGACTGATCATCTACAGTC	0.289			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					8	21	---	---	---	---