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
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													4	23					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535050	88535050	+	Silent	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:88535050C>T	ENST00000399271.1	+	5	1356	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.G412G	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	412					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGCAAAGGCAATGTCAAGA	0.443000													11	65					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735009	52735009	+	Silent	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr14:52735009C>T	ENST00000306051.2	+	1	579	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PTGDR_ENST00000553372.1_Silent_p.F159F	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	159						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGAGCGCCTTCTCCCTGGCTT	0.637000													4	108					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55368320	55368320	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr18:55368320T>C	ENST00000536015.1	-	6	624	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.M169V|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_5'UTR	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	169					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCCTTATCCATTTTATGGCGA	0.393000													27	121					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579592	7579592	+	Splice_Site	SNP	T	T	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:7579592T>A	ENST00000420246.2	-	4	229		c.e4-2		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CAAGGGGGACTGTAGATGGGT	0.597000		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)			6	232					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326628	158326628	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr1:158326628C>T	ENST00000444681.2	+	5	1105	c.812C>T	c.(811-813)tCg>tTg	p.S271L	CD1E_ENST00000368155.3_Missense_Mutation_p.S213L|CD1E_ENST00000368154.1_Missense_Mutation_p.S126L|CD1E_ENST00000368157.1_Missense_Mutation_p.S114L|CD1E_ENST00000368166.3_Missense_Mutation_p.S169L|CD1E_ENST00000368163.3_Missense_Mutation_p.S303L|CD1E_ENST00000368167.3_Missense_Mutation_p.S370L|CD1E_ENST00000368165.3_Missense_Mutation_p.S280L|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.S358L|CD1E_ENST00000452291.2_Missense_Mutation_p.S181L|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Missense_Mutation_p.S268L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	370	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCACAAGTATCGTGGATCAAA	0.438000													10	112					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118624539	118624539	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:118624539G>A	ENST00000354673.2	-	7	984	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	IGSF11_ENST00000491903.1_Missense_Mutation_p.R203W|IGSF11_ENST00000425327.2_Missense_Mutation_p.R202W|IGSF11_ENST00000441144.2_Missense_Mutation_p.R202W|IGSF11_ENST00000489689.1_Missense_Mutation_p.R203W|IGSF11_ENST00000393775.2_Missense_Mutation_p.R203W	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	203	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.R202W(2)|p.R203W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGATGTTCCGGATGGTGACT	0.473000													13	65					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	by1000genomes	TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1																						CTGGAAGAACGTGGTTGCCAC	0.373000													4	23					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110931878	110931878	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr1:110931878A>G	ENST00000369779.4	-	2	317	c.68T>C	c.(67-69)aTt>aCt	p.I23T	SLC16A4_ENST00000541986.1_Silent_p.D5D|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I23T|SLC16A4_ENST00000437429.2_Silent_p.D5D|SLC16A4_ENST00000472422.2_Missense_Mutation_p.I23T|SLC16A4_ENST00000497687.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	23						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATGAATCACAATCATCCATCC	0.448000													26	140					0	0	1	0	0
WDR83	84292	broad.mit.edu	37	19	12781579	12781579	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr19:12781579T>A	ENST00000418543.3	+	7	799	c.450T>A	c.(448-450)gaT>gaA	p.D150E	WDR83OS_ENST00000596731.1_5'UTR|WDR83OS_ENST00000600694.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.D150E	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	150					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						AGACGCTGGATGAGGCCAGAG	0.607000													5	33					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													4	22					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42156002	42156002	+	Silent	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:42156002G>A	ENST00000225983.6	-	26	3521	c.3198C>T	c.(3196-3198)gcC>gcT	p.A1066A	HDAC5_ENST00000336057.5_Silent_p.A980A|HDAC5_ENST00000393622.2_Silent_p.A1065A|HDAC5_ENST00000586802.1_Silent_p.A1065A			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1065					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCAGACCAGCGGCGAACTTCT	0.657000													30	253					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41550269	41550269	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr8:41550269C>T	ENST00000396942.1	-	31	3838	c.3755G>A	c.(3754-3756)cGa>cAa	p.R1252Q	ANK1_ENST00000396945.1_Missense_Mutation_p.R1252Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1252Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1252Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1293Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R1252Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1252Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1252					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGCCCCTCTCGGGGGTCATT	0.552000													9	319					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257187	16257187	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr1:16257187C>A	ENST00000375759.3	+	11	4656	c.4452C>A	c.(4450-4452)gaC>gaA	p.D1484E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1484					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAAGGTTGACTCTGCTCCAA	0.373000													9	80					3.86212e-05	4.20542e-05	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1																						CAGACTAAAGGCAAACAAGGA	0.498000													4	54					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71690203	71690203	+	Silent	SNP	C	C	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr10:71690203C>A	ENST00000356340.3	+	28	2081	c.1545C>A	c.(1543-1545)ggC>ggA	p.G515G	COL13A1_ENST00000520267.1_Silent_p.G458G|COL13A1_ENST00000398969.3_Silent_p.G458G|COL13A1_ENST00000357811.3_Silent_p.G493G|COL13A1_ENST00000398972.3_Silent_p.G515G|COL13A1_ENST00000517713.1_Silent_p.G493G|COL13A1_ENST00000398974.3_Silent_p.G503G|COL13A1_ENST00000398978.3_Silent_p.G515G|COL13A1_ENST00000398966.3_Silent_p.G493G|COL13A1_ENST00000522165.1_Silent_p.G496G|COL13A1_ENST00000398964.3_Silent_p.G486G|COL13A1_ENST00000398973.3_Silent_p.G515G|COL13A1_ENST00000520133.1_Silent_p.G464G|COL13A1_ENST00000398971.3_Silent_p.G515G|COL13A1_ENST00000398968.3_Silent_p.G496G|COL13A1_ENST00000354547.3_Silent_p.G493G			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	515	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GTCCCCAAGGCCCCCCAGGAA	0.552000													8	38					5.18039e-06	5.76907e-06	1	1	0
DAB2IP	153090	broad.mit.edu	37	9	124528949	124528949	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr9:124528949G>A	ENST00000408936.3	+	9	1819	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	546	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGATGACCGCACTGCCCGC	0.627000													5	153					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51754179	51754179	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr10:51754179G>A	ENST00000374056.4	+	3	715	c.317G>A	c.(316-318)tGt>tAt	p.C106Y	AGAP6_ENST00000412531.3_Missense_Mutation_p.C129Y			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	129					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGAAGCAACTGTACAAACCAT	0.284000													5	148					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93518176	93518176	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:93518176C>G	ENST00000394196.4	+	20	3641	c.2573C>G	c.(2572-2574)tCt>tGt	p.S858C	CHD2_ENST00000557381.1_Missense_Mutation_p.S858C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	858	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCAGATGGGTCTGAGGTATAC	0.413000													14	96					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390104	22390104	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:22390104C>A	ENST00000334304.5	-	19	3459	c.3190G>T	c.(3190-3192)Gga>Tga	p.G1064*	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1064					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAGCTCCGTCCTGGGCAGCAA	0.517000													12	45					6.40141e-05	6.81889e-05	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38938441	38938441	+	Silent	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:38938441G>A	ENST00000302328.3	-	14	2496	c.2298C>T	c.(2296-2298)tgC>tgT	p.C766C	SCN11A_ENST00000444237.2_Silent_p.C766C|SCN11A_ENST00000456224.3_Silent_p.C766C|SCN11A_ENST00000450244.1_Silent_p.C766C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	766					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCATTCCCCGCAGAGGATGC	0.468000													7	55					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64382885	64382885	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr10:64382885A>T	ENST00000410046.3	+	5	1284	c.1004A>T	c.(1003-1005)cAt>cTt	p.H335L	ZNF365_ENST00000395251.1_Intron	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	152										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATAAACCACCATCTTTCGGGG	0.373000													35	239					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60752348	60752348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr14:60752348C>T	ENST00000395076.4	+	3	1271	c.841C>T	c.(841-843)Cga>Tga	p.R281*	PPM1A_ENST00000325642.3_Nonsense_Mutation_p.R354*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.R281*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.R281*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	281					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CCAGGGAAGTCGAGACAACAT	0.398000													5	82					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670214	7670214	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr19:7670214A>G	ENST00000446248.2	+	2	352	c.251A>G	c.(250-252)tAc>tGc	p.Y84C	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.Y84C	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	84					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGAGCTCTACTGCAGAGCC	0.667000													23	122					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78604218	78604218	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr12:78604218C>T	ENST00000397909.2	+	40	7252	c.7079C>T	c.(7078-7080)tCg>tTg	p.S2360L	NAV3_ENST00000536525.2_Missense_Mutation_p.S2338L|NAV3_ENST00000541270.1_Missense_Mutation_p.S190L|NAV3_ENST00000228327.6_Missense_Mutation_p.S2338L|NAV3_ENST00000266692.7_Missense_Mutation_p.S2161L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2360						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCAATTACTCGAGCACACAA	0.423000										HNSCC(70;0.22)			13	92					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628464	48628464	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:48628464C>T	ENST00000006658.6	+	12	1609	c.1489C>T	c.(1489-1491)Ctc>Ttc	p.L497F	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.L437F|SPATA20_ENST00000356488.4_Missense_Mutation_p.L481F	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	481					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GCGGACCTTGCTCAATTCAGG	0.637000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	43					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	163032513	163032513	+	Silent	SNP	T	T	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:163032513T>A	ENST00000306100.5	-	2	472	c.36A>T	c.(34-36)ggA>ggT	p.G12G	FSTL5_ENST00000379164.4_Silent_p.G12G|FSTL5_ENST00000427802.2_Silent_p.G12G|FSTL5_ENST00000536695.1_Silent_p.G12G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	12						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GAAAAATGAATCCGAGAACCA	0.378000													5	70					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234243614	234243614	+	Silent	SNP	A	A	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr2:234243614A>G	ENST00000409110.1	+	11	1043	c.813A>G	c.(811-813)aaA>aaG	p.K271K	SAG_ENST00000449594.2_Silent_p.K137K	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	271					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CTAGAGAAAAAGTGCCACCAA	0.488000													16	95					0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80144052	80144052	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr9:80144052G>A	ENST00000341700.6	-	2	755	c.242C>T	c.(241-243)aCc>aTc	p.T81I		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	81					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TTGCATGGCGGTGAATATGTT	0.453000													5	321					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	163032514	163032514	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:163032514C>T	ENST00000306100.5	-	2	471	c.35G>A	c.(34-36)gGa>gAa	p.G12E	FSTL5_ENST00000379164.4_Missense_Mutation_p.G12E|FSTL5_ENST00000427802.2_Missense_Mutation_p.G12E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G12E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	12						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAAAATGAATCCGAGAACCAA	0.378000													5	71					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498000													4	146					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31604900	31604900	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr12:31604900G>A	ENST00000389082.5	-	5	1867	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	DENND5B_ENST00000306833.6_Missense_Mutation_p.R570W|DENND5B_ENST00000354285.4_Missense_Mutation_p.R557W|DENND5B_ENST00000536562.1_Missense_Mutation_p.R570W	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	535	dDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATCTGTTCCCGGTTGGTCAGC	0.378000													9	52					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33638061	33638061	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr13:33638061G>T	ENST00000380099.3	+	5	2785	c.2777G>T	c.(2776-2778)gGc>gTc	p.G926V	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	926	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGAGGTTTGGCCTCTATCGT	0.458000													26	148					3.6726e-16	4.18506e-16	1	1	0
TTN	7273	broad.mit.edu	37	2	179453918	179453918	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr2:179453918G>A	ENST00000589042.1	-	304	62758	c.62534C>T	c.(62533-62535)aCg>aTg	p.T20845M	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18277M|TTN_ENST00000342175.6_Missense_Mutation_p.T11972M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T11780M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11905M|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T19204M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19204	Fibronectin type-III 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAGTTGCCGTAACTACATA	0.413000													14	102					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397793	116397793	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr7:116397793C>A	ENST00000397752.3	+	8	2267	c.2067C>A	c.(2065-2067)caC>caA	p.H689Q	MET_ENST00000318493.6_Missense_Mutation_p.H689Q|MET_ENST00000436117.2_Missense_Mutation_p.H689Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	689	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATTCTAGACACATTTCAATTG	0.313000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				23	131					1.55469e-16	1.81381e-16	1	1	0
STXBP4	252983	broad.mit.edu	37	17	53156045	53156045	+	Splice_Site	SNP	A	A	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:53156045A>T	ENST00000376352.2	+	15	1512		c.e15-1		STXBP4_ENST00000434978.2_Splice_Site	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4							cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GTTTGTTGCTAGGCTATTCAA	0.289000													5	59					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54276495	54276495	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chrX:54276495C>T	ENST00000354646.2	-	16	3083	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	WNK3_ENST00000375159.2_Missense_Mutation_p.R882H|WNK3_ENST00000375169.3_Missense_Mutation_p.R882H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	882					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTGAGTCTCACGGTTTCTTAT	0.463000													4	7					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15111006	15111006	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr16:15111006A>G	ENST00000396410.4	+	10	939	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	PDXDC1_ENST00000563679.1_Missense_Mutation_p.Y299C|PDXDC1_ENST00000569715.1_Missense_Mutation_p.Y254C|PDXDC1_ENST00000447912.2_Missense_Mutation_p.Y190C|PDXDC1_ENST00000450288.2_Missense_Mutation_p.Y253C|PDXDC1_ENST00000535621.2_Missense_Mutation_p.Y281C|PDXDC1_ENST00000455313.2_Missense_Mutation_p.Y258C|PDXDC1_ENST00000325823.7_Missense_Mutation_p.Y266C	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	281					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCTCTGGGTTATGTCTCCTCA	0.358000													34	462					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978344	38978344	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:38978344C>T	ENST00000269576.5	-	1	503	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	165	Coil 1A.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTCCAGAGCCCGAACTTTGTC	0.483000													19	144					0	0	1	0	0
FAM166B	730112	broad.mit.edu	37	9	35562500	35562500	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr9:35562500G>T	ENST00000399742.2	-	5	686	c.616C>A	c.(616-618)Ctg>Atg	p.L206M	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	206										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						AATTCCTGCAGTGCCTGGTTG	0.587000													3	10					1	1	1	1	0
ATP13A5	344905	broad.mit.edu	37	3	193042744	193042744	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:193042744G>A	ENST00000342358.4	-	14	1700	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	528					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCCATGGCCGCACACAGTGG	0.532000													19	128					0	0	1	0	0
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	RNA	DEL	G	G	-			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393													2	4	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													7	104	---	---	---	---					
TFCP2	7024	broad.mit.edu	37	12	51504700	51504700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr12:51504700delA	ENST00000307660.4	-	5	1244	c.524delT	c.(523-525)tcfs	p.F175fs	TFCP2_ENST00000257915.5_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000549867.1_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000548115.1_Frame_Shift_Del_p.F175fs	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	175	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GTCCCACAGGAACTCCACTGT	0.398													33	286	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957462	84957472	+	RNA	DEL	GTGGCATCTGT	GTGGCATCTGT	-			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:84957462_84957472delGTGGCATCTGT	ENST00000558801.1	-	0	7257_7267																											CACTTGTAGGGTGGCATCTGTGTGCACTGGC	0.578													3	4	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr16:29110406delT	ENST00000564580.1	+	0	1098																											TTAAAAAATCTTTTTTTTTTT	0.299													8	65	---	---	---	---					
INSM1	3642	broad.mit.edu	37	20	20349570	20349570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr20:20349570delC	ENST00000310227.1	+	1	806	c.659delC	c.(658-660)gcfs	p.A220fs		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	220	Ala/Gly/Pro-rich.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GCCCCGGGCGCCAAGAAGCCC	0.756													2	4	---	---	---	---					
