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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MLL2	8085	broad.mit.edu	37	12	49418711	49418711	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr12:49418711A>G	uc001rta.4	-	48	15803	c.15803T>C	c.(15802-15804)aTt>aCt	p.I5268T		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5268	FYR C-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACAGGCTCAATGATGCGATT	0.557000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				4			4		0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143191848	143191848	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr4:143191848C>T	uc003iix.4	-	10	1178	c.583G>A	c.(583-585)Gac>Aac	p.D195N	INPP4B_uc003iiw.4_Missense_Mutation_p.D195N|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.D10N|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Missense_Mutation_p.D66N	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	195					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTGATGTGGTCGGCTTCCCCA	0.443000														32			19		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21426422	21426422	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr18:21426422G>A	uc002kuq.3	+	30	3967	c.3881G>A	c.(3880-3882)cGg>cAg	p.R1294Q	LAMA3_uc002kur.3_Missense_Mutation_p.R1294Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1294	Domain III B.|Laminin EGF-like 9.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCATCGGGCGGCAGTGCACC	0.652000														22			12		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580531	7580531	+	Missense_Mutation	SNP	A	T	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr6:7580531A>T	uc003mxp.1	+	22	4387	c.4108A>T	c.(4108-4110)Atc>Ttc	p.I1370F	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1370	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAGACCGAGATCAACATCAC	0.463000														40			35		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														31			3		0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112269864	112269864	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:112269864A>G	uc001kzd.3	+	3	1090	c.835A>G	c.(835-837)Atg>Gtg	p.M279V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	279	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGCTTACCTTATGAAGACCAA	0.552000														27			24		0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77159074	77159074	+	Silent	SNP	C	T	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:77159074C>T	uc001jxg.3	-	1	1710	c.1374G>A	c.(1372-1374)gcG>gcA	p.A458A	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	458	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GCGCCGCAGCCGCAGCAGCCG	0.701000														7			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481731	179481731	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:179481731G>A	uc021vsy.1	-	204	40406	c.40181C>T	c.(40180-40182)aCa>aTa	p.T13394I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T7089I|TTN_uc021vta.1_Missense_Mutation_p.T7022I|TTN_uc021vtb.1_Missense_Mutation_p.T6897I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14321	Ig-like 90.						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)			TAAATCCATTGTTGGTTCAAC	0.408000														35			27		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785682	140785682	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chrX:140785682G>T	uc004fbq.3	-	1	327	c.234C>A	c.(232-234)aaC>aaA	p.N78K		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	78						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TTTGGAGGGGGTTGATTCTGT	0.448000														134			8		2.17888e-05	2.26603e-05	1	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38643561	38643561	+	Silent	SNP	C	T	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr19:38643561C>T	uc002ohk.3	+	12	4124	c.3615C>T	c.(3613-3615)tcC>tcT	p.S1205S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1205					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACTCCTCTTCCGGCGGCCTGA	0.662000														34			3		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723596	49723596	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr3:49723596G>A	uc003cxg.3	-	8	1118	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_uc011bcs.1_Missense_Mutation_p.P388S|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667000														19			3		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	A	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr17:7578403C>A	uc002gim.2	-	4	721	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.3_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.2_Missense_Mutation_p.C137F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(807)|p.C176F(241)|p.C176Y(122)|p.C176S(27)|p.R175L(19)|p.R175G(15)|p.R175C(15)|p.C176R(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.0?(8)|p.C176*(8)|p.C176fs*71(7)|p.R175P(6)|p.C176_R181delCPHHER(6)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.C176G(4)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.C176fs*5(3)|p.V157_C176del20(2)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R175fs*5(2)|p.R174_C176delRRC(2)|p.V173fs*59(2)|p.C176del(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R81fs*24(1)|p.C176fs*6(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652000		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)				28			15		3.45872e-05	3.45872e-05	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														29			5		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723603	49723603	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr3:49723603G>A	uc003cxg.3	-	8	1111	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_uc011bcs.1_Silent_p.A385A|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662000														19			3		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845496	44845496	+	Silent	SNP	G	A	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr20:44845496G>A	uc002xrm.2	-	3	1206	c.807C>T	c.(805-807)gaC>gaT	p.D269D	CDH22_uc010ghk.1_Silent_p.D269D|CDH22_uc002xrn.2_Silent_p.D20D	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	269	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGTCATTGACGTCGGTGACTA	0.622000														82			4		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98508848	98508848	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr7:98508848C>T	uc003upp.3	+	16	2170	c.1961C>T	c.(1960-1962)aCg>aTg	p.T654M	TRRAP_uc011kis.2_Missense_Mutation_p.T654M|TRRAP_uc003upr.3_Missense_Mutation_p.T346M	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	654					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCAAACTACGGTCCCTTAT	0.368000														19			4		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875306	247875306	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr1:247875306C>T	uc001idj.1	-	0	752	c.752G>A	c.(751-753)tGg>tAg	p.W251*		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACCCATACCAAATGAGCAC	0.532000														30			30		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578412	7578412	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr17:7578412A>G	uc002gim.2	-	4	712	c.518T>C	c.(517-519)gTg>gCg	p.V173A	TP53_uc002gig.1_Missense_Mutation_p.V173A|TP53_uc002gih.3_Missense_Mutation_p.V173A|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V41A|TP53_uc010cnf.1_Missense_Mutation_p.V41A|TP53_uc002gii.1_Missense_Mutation_p.V41A|TP53_uc010cni.1_Missense_Mutation_p.V173A|TP53_uc010cnh.1_Missense_Mutation_p.V173A|TP53_uc002gij.2_Missense_Mutation_p.V173A|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V80A|TP53_uc002gio.2_Missense_Mutation_p.V41A|TP53_uc010vug.2_Missense_Mutation_p.V134A	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(57)|p.V173M(42)|p.V173A(24)|p.V172F(13)|p.V173G(12)|p.V173V(8)|p.V172D(8)|p.0?(8)|p.V172I(7)|p.V172A(4)|p.V173fs*1(4)|p.V173fs*7(4)|p.V173fs*59(4)|p.V172fs*2(4)|p.V172V(4)|p.V172G(4)|p.V157_C176del20(2)|p.V172_R174delVVR(2)|p.V173fs*69(2)|p.P151_V173del23(2)|p.V173fs*23(2)|p.V172_E180delVVRRCPHHE(2)|p.V173E(2)|p.V173W(2)|p.E171_H179delEVVRRCPHH(2)|p.K164_P219del(1)|p.E171fs*61(1)|p.V41fs*7(1)|p.E171fs*1(1)|p.V173fs*8(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.E171_V172delEV(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)		GCAGCGCCTCACAACCTCCGT	0.662000		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)				21			23		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	A	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr17:39296158G>A	uc010cxk.2	-	0	582	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	190						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612000														8			3		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619403	144619403	+	Missense_Mutation	SNP	A	G	G	rs4067646		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr1:144619403A>G	uc009wig.1	+	5	738	c.544A>G	c.(544-546)Aaa>Gaa	p.K182E	NBPF10_uc010oxo.1_Missense_Mutation_p.K184E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.K115E|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	184										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAAGTGCAGAAATCATCTGC	0.413000														128			6		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									16			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084692	9084692	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr19:9084692T>C	uc002mkp.3	-	0	7327	c.7123A>G	c.(7123-7125)Aac>Gac	p.N2375D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2375	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGAGGTGTTGATCAGATCA	0.438000														19			4		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103899573	103899573	+	Silent	SNP	G	A	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:103899573G>A	uc001kum.3	+	4	1347	c.1308G>A	c.(1306-1308)ccG>ccA	p.P436P	PPRC1_uc001kun.3_Silent_p.P316P|PPRC1_uc010qqj.2_Silent_p.P436P|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	436	Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCGTGGAGCCGGTGGTGCCCA	0.577000														60			8		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40509629	40509629	+	Splice_Site	SNP	A	T	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr15:40509629A>T	uc010bbl.3	+	1	1	c.-439_splice	c.e1-1		BUB1B_uc001zkx.4_Intron|PAK6_uc010bbm.3_Splice_Site	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.								ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TTTTTTTTTTAAAGACCAGCT	0.403000														9			3		0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43870673	43870673	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr22:43870673A>G	uc011apz.2	+	3	904	c.563A>G	c.(562-564)gAc>gGc	p.D188G	MPPED1_uc011apv.2_Missense_Mutation_p.D155G|MPPED1_uc011apw.2_Missense_Mutation_p.D49G|MPPED1_uc011apx.2_5'UTR|MPPED1_uc011apy.2_Missense_Mutation_p.D155G	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	155							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGACCTTTGACCAGGAGTTC	0.552000														63			38		0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153515508	153515508	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:153515508delT	uc002tyh.4	-	23	2544	c.2522delA	c.(2521-2523)aagfs	p.K841fs	PRPF40A_uc002tyg.4_Frame_Shift_Del_p.K297fs|PRPF40A_uc010zcd.1_Frame_Shift_Del_p.K792fs	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	868					RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						CTTTTTTGACTTTTTATAACT	0.323													---	4	---	---	2	---					
PTPRN	5798	broad.mit.edu	37	2	220173962	220173963	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:220173962_220173963insC	uc002vkz.3	-	0	333_334	c.92_93insG	c.(91-93)ggcfs	p.G31fs	PTPRN_uc010zlc.2_5'Flank|PTPRN_uc002vla.3_Frame_Shift_Ins_p.G31fs	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	31					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGCGCTGCAGCCCCCCGGGCG	0.738													---	4	---	---	2	---					
ACTL6B	51412	broad.mit.edu	37	7	100253491	100253491	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr7:100253491delC	uc003uvy.3	-	1	144	c.37delG	c.(37-39)gcgfs	p.A13fs	ACTL6B_uc003uvz.3_Non-coding_Transcript|AK055267_uc003uwa.1_5'Flank	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	13					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AAGACCAGCGCCCCCACCTCA	0.617													---	4	---	---	2	---					
HMGN2P46	283651	broad.mit.edu	37	15	45848231	45848231	+	RNA	DEL	T	-	-			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr15:45848231delT	uc001zvn.1	+	3		c.985delT			HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript					Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA.																		TTTGTTTAGCTTTTTTTTTTT	0.323													---	4	---	---	2	---					
FAM174B	400451	broad.mit.edu	37	15	93198858	93198860	+	In_Frame_Del	DEL	AGG	-	-			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr15:93198858_93198860delAGG	uc010boe.3	-	0	172_174	c.30_32delCCT	c.(28-33)ctcctg>ctg	p.10_11LL>L	FAM174B_uc002bsl.4_Intron	NM_207446	NP_997329	Q3ZCQ3	F174B_HUMAN	Homo sapiens family with sequence similarity 174, member B (FAM174B), mRNA.	10						integral to membrane				endometrium(2)|lung(1)	3						CAGCAGCGGCAGGAGCGGGGCGG	0.778													---	4	---	---	2	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	202	---	---	16	---					
SBNO2	22904	broad.mit.edu	37	19	1149398	1149398	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr19:1149398delG	uc002lrk.4	-	2	375	c.137delC	c.(136-138)ccgfs	p.P46fs	SBNO2_uc010dse.3_Frame_Shift_Del_p.P39fs	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	46					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		AGGGTATGGCGGCAGCGAGAA	0.627													---	4	---	---	2	---					
ATRX	546	broad.mit.edu	37	X	76855014	76855017	+	Frame_Shift_Del	DEL	CTAT	-	-			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chrX:76855014_76855017delCTAT	uc004ecp.4	-	24	6051_6054	c.5819_5822delATAG	c.(5818-5823)gatagtfs	p.D1940fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.D1902fs|ATRX_uc004eco.4_Frame_Shift_Del_p.D1725fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1940					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.D1940fs*14(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACTTGAGCTACTATCTTTTTTCCC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	182	---	---	91	---					
