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
CHL1	10752	broad.mit.edu	37	3	447262	447262	+	Silent	SNP	C	C	G			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr3:447262C>G	ENST00000256509.2	+	28	4185	c.3543C>G	c.(3541-3543)gtC>gtG	p.V1181V	CHL1_ENST00000397491.2_Silent_p.V1165V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1165					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACAGCTTAGTCGAATACGGAG	0.448000													8	60					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54282208	54282208	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chrX:54282208C>G	ENST00000354646.2	-	12	2653	c.2215G>C	c.(2215-2217)Gag>Cag	p.E739Q	WNK3_ENST00000375159.2_Missense_Mutation_p.E739Q|WNK3_ENST00000375169.3_Missense_Mutation_p.E739Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	739					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						GTCCCCTTCTCTGGTCGGGGA	0.478000													15	99					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23886323	23886323	+	Silent	SNP	G	G	T	rs2946385	by1000genomes	TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr4:23886323G>T	ENST00000507380.1	-	2	363	c.286C>A	c.(286-288)Cga>Aga	p.R96R	PPARGC1A_ENST00000264867.2_Intron			Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	0					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CATGTTAGTCGGGCCCAAGCC	0.328000													4	43					0.00024832	0.000251545	1	1	0
OR4D1	26689	broad.mit.edu	37	17	56232956	56232956	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr17:56232956G>A	ENST00000268912.5	+	1	463	c.442G>A	c.(442-444)Gcc>Acc	p.A148T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GGTAGTAGCCGCCTGGGTGGG	0.532000													14	110					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119674015	119674015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr4:119674015G>A	ENST00000379735.5	-	12	1724	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Nonsense_Mutation_p.R484*|SEC24D_ENST00000419654.2_Nonsense_Mutation_p.R40*|SEC24D_ENST00000511481.1_Nonsense_Mutation_p.R115*|SEC24D_ENST00000429811.2_Nonsense_Mutation_p.R40*	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	484					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAACCCACTCGAATTGCAGAC	0.373000													6	57					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375660	46375660	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr19:46375660G>A	ENST00000302177.2	+	2	594	c.397G>A	c.(397-399)Gcg>Acg	p.A133T		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	133					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CATCCAGCAGGCGCCGGGCAA	0.582000													14	139					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85106539	85106539	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr16:85106539C>A	ENST00000566428.1	+	4	1069	c.438C>A	c.(436-438)aaC>aaA	p.N146K	KIAA0513_ENST00000538274.1_Missense_Mutation_p.N146K|KIAA0513_ENST00000258180.3_Missense_Mutation_p.N146K|KIAA0513_ENST00000567328.1_Missense_Mutation_p.N146K			O60268	K0513_HUMAN	KIAA0513	146						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		AGCGCTGCAACTCCAAGTGTG	0.537000													5	103					1.23904e-05	1.30602e-05	1	1	0
HYAL3	8372	broad.mit.edu	37	3	50332592	50332592	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr3:50332592C>G	ENST00000336307.1	-	2	714	c.442G>C	c.(442-444)Gcc>Ccc	p.A148P	HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Missense_Mutation_p.A148P|HYAL3_ENST00000450982.1_Missense_Mutation_p.A148P|HYAL3_ENST00000513170.1_Intron	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	148					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCCAAGAGGCTGCCTGATAA	0.627000													6	98					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113446984	113446984	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr12:113446984G>T	ENST00000392583.2	+	10	2195	c.1988G>T	c.(1987-1989)tGg>tTg	p.W663L	OAS2_ENST00000342315.4_Missense_Mutation_p.W663L|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	663	OAS domain 2.			EW -> VR (in Ref. 1; AAA60607/AAA60606).	interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.W663L(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCAAAGGAATGGTTATCCTCT	0.522000													43	215					2.00842e-17	2.33816e-17	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29998398	29998398	+	Silent	SNP	G	G	C			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr16:29998398G>C	ENST00000308893.4	+	16	3848	c.2805G>C	c.(2803-2805)ctG>ctC	p.L935L	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.L822L|TAOK2_ENST00000416441.2_Silent_p.L762L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	935					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACACACCTGAGGCCCTGCC	0.657000													22	247					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867505	7867505	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr5:7867505G>A	ENST00000264669.5	-	2	828	c.692C>T	c.(691-693)tCa>tTa	p.S231L	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	231					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACACAACCTGAACTGTGCAG	0.418000													12	207					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170007496	170007496	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr2:170007496C>T	ENST00000263816.3	-	68	12787	c.12502G>A	c.(12502-12504)Gtg>Atg	p.V4168M		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4168					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTTTAGCCACCTCAATGCGT	0.428000													12	117					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438502	120438502	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr1:120438502G>A	ENST00000369400.1	-	1	616	c.458C>T	c.(457-459)cCc>cTc	p.P153L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	153					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTCAAAACTGGGAGAGGCCTT	0.448000													12	134					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		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.L858R(1489)|p.L858Q(1)|p.L858K(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)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	117					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52601655	52601655	+	Missense_Mutation	SNP	T	T	G			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr10:52601655T>G	ENST00000395489.2	-	7	707	c.311A>C	c.(310-312)aAt>aCt	p.N104T	A1CF_ENST00000373995.3_Missense_Mutation_p.N119T|A1CF_ENST00000395495.1_Missense_Mutation_p.N111T|A1CF_ENST00000374001.1_Missense_Mutation_p.N111T|A1CF_ENST00000282641.2_Missense_Mutation_p.N111T|A1CF_ENST00000373993.1_Missense_Mutation_p.N111T|A1CF_ENST00000373997.3_Missense_Mutation_p.N111T	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	111	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTTGATTGCATTCTTGGCTTC	0.323000													10	42					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171117	207171117	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr2:207171117C>T	ENST00000374423.3	+	5	2251	c.1865C>T	c.(1864-1866)gCt>gTt	p.A622V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	622							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCCAGTAGTGCTAAAGCACAT	0.428000													15	75					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119680993	119680993	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chrX:119680993T>A	ENST00000371322.5	-	3	835	c.774A>T	c.(772-774)agA>agT	p.R258S	CUL4B_ENST00000404115.3_Missense_Mutation_p.R276S|CUL4B_ENST00000336592.6_Missense_Mutation_p.R263S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	276					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGGATATTCTCTGAATTGAT	0.373000													6	49					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58262976	58262976	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr17:58262976G>C	ENST00000300896.4	-	30	3873	c.3679C>G	c.(3679-3681)Cga>Gga	p.R1227G	USP32_ENST00000592339.1_Missense_Mutation_p.R897G	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1227					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCTTGCGCTCGCCGACTCTGC	0.527000													38	76					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	52					0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73760023	73760023	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr17:73760023G>A	ENST00000588479.1	-	2	884	c.310C>T	c.(310-312)Cct>Tct	p.P104S	GALK1_ENST00000437911.1_Missense_Mutation_p.P134S|GALK1_ENST00000225614.2_Missense_Mutation_p.P104S			P51570	GALK1_HUMAN	galactokinase 1	104					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCACCGAGGAGTCCCAGGC	0.622000													4	41					0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70245096	70245096	+	Silent	SNP	G	G	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr14:70245096G>T	ENST00000216540.4	-	4	1030	c.897C>A	c.(895-897)ctC>ctA	p.L299L		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	299					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		TGGCAATGAGGAGAAGCCCTT	0.453000													20	113					3.51602e-12	3.97463e-12	1	1	0
TBC1D4	9882	broad.mit.edu	37	13	75863085	75863085	+	Silent	SNP	G	G	C			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr13:75863085G>C	ENST00000377636.3	-	20	3994	c.3648C>G	c.(3646-3648)ctC>ctG	p.L1216L	TBC1D4_ENST00000377625.2_Silent_p.L1153L|TBC1D4_ENST00000431480.2_Silent_p.L1208L|TBC1D4_ENST00000425511.1_Silent_p.L380L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1216						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATTTTTCTAGGAGGTCCATGT	0.408000													6	78					0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4308230	4308230	+	Silent	SNP	G	G	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr16:4308230G>T	ENST00000204517.6	-	7	1171	c.843C>A	c.(841-843)ggC>ggA	p.G281G		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	281					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TTTCCTGGGTGCCCTCGATGT	0.667000													5	52					1.024e-07	1.12496e-07	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44922915	44922915	+	Silent	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chrX:44922915G>A	ENST00000377967.4	+	16	1817	c.1776G>A	c.(1774-1776)ttG>ttA	p.L592L	KDM6A_ENST00000543216.1_Silent_p.L513L|KDM6A_ENST00000382899.4_Silent_p.L599L|KDM6A_ENST00000536777.1_Silent_p.L547L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	592					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACACTATTTTGATAGGCAATA	0.498000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								4	38					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50401183	50401183	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr20:50401183C>T	ENST00000217086.4	-	4	2894	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	SALL4_ENST00000395997.3_Missense_Mutation_p.R491H|SALL4_ENST00000371539.3_Missense_Mutation_p.R151H	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	928					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTTCCACGGCGGGCTGAGTT	0.488000													7	97					0	0	1	0	0
LURAP1L	286343	broad.mit.edu	37	9	12775855	12775855	+	Silent	SNP	T	T	C			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr9:12775855T>C	ENST00000319264.3	+	1	836	c.141T>C	c.(139-141)ggT>ggC	p.G47G	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	47	Gly-rich.		Missing.														GGGGGAgcggtggtggtggcg	0.677000													4	8					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18384734	18384734	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr22:18384734G>A	ENST00000441493.2	-	5	953	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	MICAL3_ENST00000414725.2_Missense_Mutation_p.R201W|MICAL3_ENST00000383094.3_Missense_Mutation_p.R201W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R201W|MICAL3_ENST00000429452.1_Missense_Mutation_p.R201W|MICAL3_ENST00000444520.1_Missense_Mutation_p.R201W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R201W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R201W	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	201						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACCAGTGCCCGCCAGCCTATC	0.517000													4	17					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4013226	4013226	+	Silent	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr19:4013226C>T	ENST00000262971.2	+	2	448	c.333C>T	c.(331-333)ctC>ctT	p.L111L		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	111					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCGTGCTCTACGGAAAGT	0.617000													13	104					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195491889	195491889	+	Missense_Mutation	SNP	C	C	T	rs111517228		TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr3:195491889C>T	ENST00000463781.3	-	10	14362	c.13903G>A	c.(13903-13905)Gtg>Atg	p.V4635M	MUC4_ENST00000475231.1_Missense_Mutation_p.V4583M|MUC4_ENST00000349607.4_Missense_Mutation_p.V348M|MUC4_ENST00000346145.4_Missense_Mutation_p.V399M	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1392					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGACGCTGCACGTGCCAGCCT	0.637000													18	74					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924728	109924728	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chrX:109924728C>T	ENST00000218054.4	-	10	1328	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	CHRDL1_ENST00000482160.1_Missense_Mutation_p.V300I|CHRDL1_ENST00000372045.1_Missense_Mutation_p.V372I|CHRDL1_ENST00000372042.1_Missense_Mutation_p.V380I|CHRDL1_ENST00000394797.4_Missense_Mutation_p.V378I|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V379I|CHRDL1_ENST00000434224.1_Missense_Mutation_p.V299I	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	372					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATAGTCCAAACGTGGACCTCT	0.443000													18	141					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452823	179452823	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr2:179452823C>T	ENST00000589042.1	-	305	63535	c.63311G>A	c.(63310-63312)aGa>aAa	p.R21104K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19463K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12164K|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18536K|TTN_ENST00000460472.2_Missense_Mutation_p.R12039K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12231K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19463	Fibronectin type-III 53.						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)			TATTTTTGGTCTCATTTCCAC	0.453000													10	54					0	0	1	0	0
MOB1B	92597	broad.mit.edu	37	4	71844970	71844970	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr4:71844970C>G	ENST00000309395.2	+	5	736	c.535C>G	c.(535-537)Cta>Gta	p.L179V	MOB1B_ENST00000396051.2_Missense_Mutation_p.L184V|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	179					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										GGAAGCACATCTAAATACATC	0.398000													13	102					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31523045	31523045	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr18:31523045C>T	ENST00000261592.5	-	9	1823	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.R290H|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.R224H|NOL4_ENST00000538587.1_Missense_Mutation_p.R435H	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	509						nucleolus	RNA binding	p.R509L(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCTCCAGACGCATCCTCTT	0.443000													6	61					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68074148	68074148	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr8:68074148C>T	ENST00000262210.5	+	20	2657	c.2626C>T	c.(2626-2628)Cat>Tat	p.H876Y	CSPP1_ENST00000412460.1_Missense_Mutation_p.H531Y|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	911						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTCCTTTATTCATGTATGTAC	0.353000													5	85					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237813254	237813254	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr1:237813254A>T	ENST00000366574.2	+	50	7907	c.7590A>T	c.(7588-7590)agA>agT	p.R2530S	RYR2_ENST00000542537.1_Missense_Mutation_p.R2514S|RYR2_ENST00000360064.6_Missense_Mutation_p.R2528S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2530	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTAACAAGATGTGCTCCTC	0.463000													18	176					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6331042	6331042	+	Silent	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr4:6331042G>A	ENST00000335585.5	-	8	1022	c.999C>T	c.(997-999)taC>taT	p.Y333Y	PPP2R2C_ENST00000382599.4_Silent_p.Y333Y|PPP2R2C_ENST00000507294.1_Silent_p.Y326Y|PPP2R2C_ENST00000506140.1_Silent_p.Y326Y|PPP2R2C_ENST00000515571.1_Silent_p.Y316Y	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	333					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.Y333Y(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGTCGTTCTCGTACAGGGAAC	0.582000													8	31					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	32					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26663543	26663543	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr11:26663543C>T	ENST00000256737.3	+	22	3094	c.2242C>T	c.(2242-2244)Ctt>Ttt	p.L748F	ANO3_ENST00000537978.1_Missense_Mutation_p.L732F|ANO3_ENST00000531568.1_Missense_Mutation_p.L602F|ANO3_ENST00000525139.1_Missense_Mutation_p.L732F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	748						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCCCATGAACCTTCATGGACT	0.413000													19	57					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776154	94776154	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr14:94776154G>A	ENST00000341584.3	-	3	949	c.803C>T	c.(802-804)cCg>cTg	p.P268L		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	268					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCCCTTGTCCGGAAGGATGAA	0.562000													8	108					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7895960	7895960	+	Silent	SNP	A	A	G			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr5:7895960A>G	ENST00000264668.2	+	12	1782	c.1752A>G	c.(1750-1752)caA>caG	p.Q584Q	MTRR_ENST00000440940.2_Silent_p.Q557Q	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	584					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GGTTCCTACAACATAGGTATG	0.393000													19	164					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102832	168102832	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr2:168102832T>A	ENST00000409195.1	+	9	5019	c.4930T>A	c.(4930-4932)Tca>Aca	p.S1644T	XIRP2_ENST00000295237.9_Missense_Mutation_p.S1644T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1422T|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1469					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTAAACAGATCAACTGAATT	0.333000													13	47					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372564	175372564	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr1:175372564A>T	ENST00000367674.1	-	4	1396	c.688T>A	c.(688-690)Tgt>Agt	p.C230S	TNR_ENST00000263525.2_Missense_Mutation_p.C230S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	230	Cys-rich.|EGF-like 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGTTCGGAACAGTCATCCCCG	0.637000													13	180					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51015404	51015404	+	Translation_Start_Site	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr22:51015404G>A	ENST00000434492.2	-	0	735				CPT1B_ENST00000457250.1_Missense_Mutation_p.T114M|CPT1B_ENST00000395650.2_Missense_Mutation_p.T114M|CPT1B_ENST00000360719.2_Missense_Mutation_p.T114M|CPT1B_ENST00000405237.3_Missense_Mutation_p.T114M|CPT1B_ENST00000312108.7_Missense_Mutation_p.T114M|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.T114M			Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)						carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCAGACGCCCGTGGAGAAGAT	0.602000											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	112					0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469436	21469436	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr14:21469436G>T	ENST00000298681.4	+	4	785	c.628G>T	c.(628-630)Gta>Tta	p.V210L	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	210						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GGTGTTTGGTGTAGGAATGCG	0.557000													9	108					0.000274275	0.000274275	1	1	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74621550	74621550	+	Missense_Mutation	SNP	A	A	C			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr17:74621550A>C	ENST00000156626.7	-	9	1864	c.1665T>G	c.(1663-1665)gaT>gaG	p.D555E		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	555					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TCCATGATGTATCATAGTAGT	0.488000													11	41					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72289976	72289976	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr11:72289976G>T	ENST00000334456.5	-	28	2679	c.2434C>A	c.(2434-2436)Cag>Aag	p.Q812K	PDE2A_ENST00000444035.2_Missense_Mutation_p.Q803K|PDE2A_ENST00000376450.3_Missense_Mutation_p.Q556K|PDE2A_ENST00000544570.1_Missense_Mutation_p.Q805K|PDE2A_ENST00000418754.2_Missense_Mutation_p.Q697K|PDE2A_ENST00000540345.1_Missense_Mutation_p.Q803K	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	812	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCCTTGGTCTGGTCAGAGAGG	0.597000													15	27					4.7546e-09	5.29799e-09	1	1	0
POU4F2	5458	broad.mit.edu	37	4	147561758	147561758	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr4:147561758C>T	ENST00000281321.3	+	2	1276	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	343					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TTCAATGGCGCGGAGAAGAAG	0.587000													30	119					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22202226	22202226	+	Silent	SNP	C	C	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr1:22202226C>A	ENST00000374695.3	-	25	3277	c.3198G>T	c.(3196-3198)cgG>cgT	p.R1066R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1066	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCCATCGGGCCGCTGCCATG	0.652000													15	127					8.60227e-14	9.86731e-14	1	1	0
FSCB	84075	broad.mit.edu	37	14	44974261	44974261	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr14:44974261C>A	ENST00000340446.4	-	1	2221	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	644	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.662000													6	33					1.58986e-06	1.69876e-06	1	1	0
WDR49	151790	broad.mit.edu	37	3	167254771	167254771	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr3:167254771C>G	ENST00000308378.3	-	7	1090	c.785G>C	c.(784-786)cGa>cCa	p.R262P	WDR49_ENST00000476376.1_Missense_Mutation_p.R87P|WDR49_ENST00000453925.2_Missense_Mutation_p.R326P|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	262										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTTTTGGGGTCGAAACACAGT	0.393000													5	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615306	179615306	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr2:179615306G>A	ENST00000360870.5	-	46	12043	c.11821C>T	c.(11821-11823)Cgt>Tgt	p.R3941C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9758							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)			GGTGGGCAACGTTGTGGGCGT	0.348000													3	36					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18738373	18738373	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr11:18738373G>A	ENST00000513874.1	-	10	1287	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	383								p.T383M(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AAGCGTGTGCGTCAGACCATC	0.527000													29	146					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60554963	60554963	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr13:60554963T>C	ENST00000400324.4	-	14	1731	c.1511A>G	c.(1510-1512)gAg>gGg	p.E504G	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E434G|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E493G|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E458G|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E504G|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E504G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	504					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTCTTCAAACTCTTCTAGTTT	0.338000													13	42					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47570400	47570400	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr21:47570400G>C	ENST00000397748.1	-	6	719	c.676C>G	c.(676-678)Ctg>Gtg	p.L226V	FTCD_ENST00000397743.1_Missense_Mutation_p.L226V|FTCD_ENST00000359679.2_Missense_Mutation_p.L226V|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.L226V|FTCD_ENST00000397746.3_Missense_Mutation_p.L226V|FTCD_ENST00000291670.5_Missense_Mutation_p.L226V			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	226	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TTCTCATCCAGGTACCAGCCA	0.577000													19	118					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173916421	173916421	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr2:173916421C>T	ENST00000264111.6	+	31	3146	c.2959C>T	c.(2959-2961)Cgg>Tgg	p.R987W	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R835W|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R988W|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R817W|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R835W|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R920W|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R844W|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R768W			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	988	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GAGTTATGTACGGCAATTAAA	0.408000													13	64					0	0	1	0	0
RP11-493L12.5	0	broad.mit.edu	37	12	47761313	47761314	+	RNA	INS	-	-	T	rs57593482		TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr12:47761313_47761314insT	ENST00000550019.1	+	0	262																											ttcgctctctattttttttttt	0.406													8	5	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132445252	132445253	+	Frame_Shift_Ins	INS	-	-	C	rs71453134		TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr12:132445252_132445253insC	ENST00000333577.4	+	2	197_198	c.88_89insC	c.(88-90)ccafs	p.P30fs	EP400_ENST00000389562.2_Frame_Shift_Ins_p.P30fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.P30fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.P30fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.P30fs			Q96L91	EP400_HUMAN	E1A binding protein p400	30					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGAGCAGCCGGCCCACCCCAAC	0.649													3	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578462	7578464	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr17:7578462_7578464delGCG	ENST00000420246.2	-	5	598_600	c.466_468delCGC	c.(466-468)del	p.R156del	TP53_ENST00000413465.2_In_Frame_Del_p.R156del|TP53_ENST00000269305.4_In_Frame_Del_p.R156del|TP53_ENST00000455263.2_In_Frame_Del_p.R156del|TP53_ENST00000445888.2_In_Frame_Del_p.R156del|TP53_ENST00000359597.4_In_Frame_Del_p.R156del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R156P(24)|p.R156fs*14(10)|p.R156H(10)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.V157fs*13(3)|p.R156S(3)|p.R156R(3)|p.R156L(3)|p.R156G(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156fs*25(2)|p.R156C(2)|p.V157fs*24(2)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.R156_V157insV(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155_R156delTR(1)|p.R156fs*20(1)|p.V157fs*23(1)|p.G154_R156delGTR(1)|p.V157fs*25(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)		TGGCGCGGACGCGGGTGCCGGGC	0.616		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)			17	44	---	---	---	---					
SPPL2B	56928	broad.mit.edu	37	19	2341094	2341101	+	RNA	DEL	CTCCCTGG	CTCCCTGG	-	rs76166147		TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr19:2341094_2341101delCTCCCTGG	ENST00000452401.2	+	0	1033				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCCTGCCCTCCCTGGAGGCCGCCCC	0.702													4	7	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)del	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	129	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													7	282	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-97-A4M1-01A-11D-A24P-08	TCGA-97-A4M1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce18a849-fa27-4aad-9328-892ddedd7202	f2ea2f9f-3ae3-419c-9529-4d2fc15c37ac	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctg>ct	p.LQ596del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	596	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													8	177	---	---	---	---					
