Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ABCG8	64241	broad.mit.edu	37	2	44099378	44099378	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:44099378G>A	uc002rtq.3	+	7	1234	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N	ABCG8_uc010yoa.2_Missense_Mutation_p.D381N	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	382					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCCCACTAGACACCAACTG	0.582000													11	57					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140237074G>A	uc003lhx.2	+	0	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A481T|PCDHAC2_uc011dad.2_Missense_Mutation_p.A481T	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	496	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A481S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662000													5	280					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415641	19415641	+	RNA	SNP	A	A	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr13:19415641A>T	uc010tcj.1	-	0		c.30469T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		aaaaaaaaaaaaacccaaaca	0.418000													4	26					0	0	1	0	0
GPX2	2877	broad.mit.edu	37	14	65409342	65409342	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr14:65409342T>G	uc021ruq.1	-	0	190	c.103A>C	c.(103-105)Aat>Cat	p.N35H	CHURC1-FNTB_uc010tsk.2_Intron|CHURC1-FNTB_uc010tsj.2_Intron|CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|GPX2_uc001xhy.1_Non-coding_Transcript	NM_002083	NP_002074	P18283	GPX2_HUMAN	Homo sapiens glutathione peroxidase 2 (gastrointestinal) (GPX2), mRNA.	35					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GAAGCCACATTCTCAATCAGC	0.577000													5	113					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		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)		TAAAGTCCTAGTTCACTCTCA	0.473000													5	366					1.23904e-05	1.37893e-05	1	1	0
KLHL3	26249	broad.mit.edu	37	5	136993906	136993906	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:136993906T>C	uc010jek.3	-	7	1261	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	KLHL3_uc011cyc.2_Missense_Mutation_p.M42V|KLHL3_uc003lbr.4_Missense_Mutation_p.M191V|KLHL3_uc011cyd.2_Non-coding_Transcript|KLHL3_uc010jel.1_Missense_Mutation_p.M42V|KLHL3_uc010jem.1_Missense_Mutation_p.M233V|KLHL3_uc010jen.1_Non-coding_Transcript	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	273						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGTATTTCATGGCCTCAATG	0.473000													44	66					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130023308	130023308	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:130023308C>T	uc003vpx.3	+	4	632	c.560C>T	c.(559-561)gCc>gTc	p.A187V	CPA1_uc011kpf.1_Missense_Mutation_p.A99V|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	187					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCACCCAGGCCAGTGGGGTC	0.642000													18	47					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416304	1416304	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:1416304C>T	uc003jck.3	-	6	1066	c.940G>A	c.(940-942)Gcg>Acg	p.A314T		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	314					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.A314V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGGTGGCCGCGTCAATCCAA	0.627000													9	67					0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936464	21936464	+	RNA	SNP	C	C	T	rs8025772	by1000genomes	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr15:21936464C>T	uc010tzj.1	-	0		c.4276G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GTTATGCAGACCATTTCTTTA	0.328000													7	34					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; 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.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		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)			33	5					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800596	70800596	+	Missense_Mutation	SNP	C	C	T	rs140476927		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:70800596C>T	uc003tvy.3	+	1	299	c.299C>T	c.(298-300)cCg>cTg	p.P100L	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	100						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGGCCTTCCGGCTACTCTT	0.463000													7	86					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104033987	104033987	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:104033987G>A	uc001tjw.3	+	8	1179	c.993G>A	c.(991-993)ccG>ccA	p.P331P		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	331	EGF-like 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGATAACCCGTGTCATAGGA	0.463000													32	80					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75282973	75282973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:75282973C>T	uc001owr.3	+	4	1400	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SERPINH1_uc009yug.3_Nonsense_Mutation_p.Q368*|SERPINH1_uc001ows.3_Nonsense_Mutation_p.Q368*|SERPINH1_uc001owt.3_Nonsense_Mutation_p.Q151*	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	368					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCCCTTTGACCAGGACATCTA	0.617000													21	62					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42873066	42873066	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:42873066G>A	uc002otl.4	+	35	6987	c.6352G>A	c.(6352-6354)Ggg>Agg	p.G2118R	MEGF8_uc002otm.4_Missense_Mutation_p.G1726R|MEGF8_uc002otn.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2185	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGTGCAAACGGGCACCACGA	0.622000													51	54					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220955136	220955136	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr1:220955136C>T	uc001hmq.3	+	6	1099	c.901C>T	c.(901-903)Cct>Tct	p.P301S	MARC2_uc001hmr.3_Missense_Mutation_p.P301S|MARC2_uc009xdx.3_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	301	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	p.P301A(1)									CCTGTGTGATCCTTCTGAGAG	0.393000													7	99					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152763234	152763234	+	Silent	SNP	C	C	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:152763234C>A	uc021zhb.1	-	28	4207	c.3984G>T	c.(3982-3984)cgG>cgT	p.R1328R	SYNE1_uc003qot.4_Silent_p.R1335R|SYNE1_uc003qou.4_Silent_p.R1328R|SYNE1_uc010kjb.1_Silent_p.R1311R|SYNE1_uc003qow.3_Silent_p.R623R|SYNE1_uc003qox.1_Silent_p.R844R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1328					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGCCTCTCCCGGCTGCGCT	0.632000										HNSCC(10;0.0054)			4	148					0.184627	0.187342	1	1	0
GAB4	128954	broad.mit.edu	37	22	17444666	17444666	+	Silent	SNP	C	C	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr22:17444666C>G	uc002zlw.3	-	8	1638	c.1530G>C	c.(1528-1530)ccG>ccC	p.P510P		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	510										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGTGCTCCTCGGCGGGGCTG	0.612000													3	55					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95926723	95926723	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:95926723C>T	uc001teg.3	-	1	1454	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	USP44_uc001teh.3_Missense_Mutation_p.R437H|USP44_uc009zte.3_Missense_Mutation_p.R434H	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	437					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCTAATTCACGTTGTATTTT	0.393000													11	76					0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18236804	18236804	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:18236804T>G	uc003ncr.1	-	8	1119	c.926A>C	c.(925-927)gAt>gCt	p.D309A	DEK_uc011djf.1_Missense_Mutation_p.D275A|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	309	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TAAAGGTTCATCATCTGAACT	0.294000			T	NUP214	AML								6	59					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744513	744513	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr20:744513G>A	uc002wed.4	-	2	1041	c.702C>T	c.(700-702)tgC>tgT	p.C234C	SLC52A3_uc002wee.2_Silent_p.C234C	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	234					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										ACGCCACGAGGCAGCAGGCCA	0.612000													6	83					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578508C>T	uc002gim.2	-	4	616	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_uc002gig.1_Missense_Mutation_p.C141Y|TP53_uc002gih.3_Missense_Mutation_p.C141Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C9Y|TP53_uc010cnf.1_Missense_Mutation_p.C9Y|TP53_uc002gii.1_Missense_Mutation_p.C9Y|TP53_uc010cni.1_Missense_Mutation_p.C141Y|TP53_uc010cnh.1_Missense_Mutation_p.C141Y|TP53_uc002gij.2_Missense_Mutation_p.C141Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C48Y|TP53_uc002gio.2_Missense_Mutation_p.C9Y|TP53_uc010vug.2_Missense_Mutation_p.C102Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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 LFS; germline mutation and in sporadic cancers; 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.C141Y(149)|p.C141*(12)|p.T140I(12)|p.C141R(12)|p.C141W(11)|p.C141F(8)|p.0?(8)|p.T140T(6)|p.A138_P142delAKTCP(6)|p.C141S(6)|p.C9Y(5)|p.C48Y(5)|p.C141C(4)|p.C141fs*29(3)|p.L137_W146del10(2)|p.A138_V143delAKTCPV(2)|p.N131fs*27(2)|p.C141A(2)|p.C141G(2)|p.K139_C141>N(2)|p.T140fs*28(2)|p.C141fs*8(2)|p.C141fs*5(2)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.T140fs*9(1)|p.K139_T140delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9S(1)|p.A6_P10delAKTCP(1)|p.T140N(1)|p.C48S(1)|p.T140fs*30(1)|p.C141_P142insXX(1)|p.C135_T140delCQLAKT(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)		CTGCACAGGGCAGGTCTTGGC	0.572000		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)			5	78					0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74879835	74879835	+	Missense_Mutation	SNP	C	C	T	rs145352986	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr10:74879835C>T	uc001jtj.3	+	2	268	c.143C>T	c.(142-144)gCg>gTg	p.A48V	NUDT13_uc010qkc.2_5'UTR|NUDT13_uc010qkd.2_5'UTR|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_Missense_Mutation_p.A48V|NUDT13_uc010qke.2_5'UTR|NUDT13_uc001jtl.3_Missense_Mutation_p.A48V	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	48							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CAAACAGGAGCGTTTTACCTC	0.448000													25	106					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31239616	31239616	+	Missense_Mutation	SNP	C	C	A	rs150810080	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:31239616C>A	uc003nsy.3	-	1	168	c.103G>T	c.(103-105)Gcc>Tcc	p.A35S	HLA-C_uc021yuk.1_5'Flank|HLA-C_uc011dnj.2_Missense_Mutation_p.A7S|HLA-C_uc011dnl.2_5'UTR|HLA-C_uc003ntf.2_Intron|HLA-C_uc021yul.1_5'Flank	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, C (HLA-C), transcript variant 1, mRNA.	35	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGGGACACGGCGGTGTCGAAA	0.721000													4	58					0.00909568	0.00980628	1	1	0
FBN2	2201	broad.mit.edu	37	5	127800505	127800505	+	Silent	SNP	C	C	T	rs150087436	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:127800505C>T	uc003kuu.3	-	5	1177	c.738G>A	c.(736-738)gcG>gcA	p.A246A	FBN2_uc003kuv.2_Silent_p.A213A|FBN2_uc003kuw.4_Silent_p.A246A	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	246	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R245W(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATGGCCCCACGCCCGTCCAA	0.607000													4	125					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117448196	117448196	+	Silent	SNP	G	G	A	rs146667375	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:117448196G>A	uc001twg.1	+	7	1390	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	FBXW8_uc001twf.1_Silent_p.T370T	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	436							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGACTTCACGTGTGTCAACC	0.572000													14	146					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94927307	94927307	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr15:94927307A>G	uc002btj.3	+	11	1704	c.1639A>G	c.(1639-1641)Acc>Gcc	p.T547A	MCTP2_uc002bti.2_Missense_Mutation_p.T547A|MCTP2_uc010boj.3_Missense_Mutation_p.T276A|MCTP2_uc010bok.3_Missense_Mutation_p.T547A|MCTP2_uc002btk.4_Missense_Mutation_p.T135A|MCTP2_uc002btl.3_Missense_Mutation_p.T135A	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	547	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCAGACGCATACCGTCTACAA	0.433000													5	49					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	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(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								25	36					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136588241	136588241	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:136588241T>G	uc003qgx.1	-	10	2723	c.2470A>C	c.(2470-2472)Act>Cct	p.T824P	BCLAF1_uc011edb.1_Intron|BCLAF1_uc003qgy.1_Intron|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.T822P|BCLAF1_uc003qgw.1_Missense_Mutation_p.T651P	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	824					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAAAGTAGTATTTGAGTTG	0.393000													7	83					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41084138	41084138	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:41084138A>G	uc004dfb.3	+	39	7528	c.6895A>G	c.(6895-6897)Acc>Gcc	p.T2299A	USP9X_uc004dfc.3_Missense_Mutation_p.T2299A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2299					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCAGAGGAAACCGTCAAATT	0.383000													4	52					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167752140	167752140	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:167752140T>C	uc003qvs.1	+	1	141	c.53T>C	c.(52-54)tTg>tCg	p.L18S		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	18					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CACAGATCTTTGAGAACCACC	0.488000													31	48					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314482	54314482	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:54314482T>A	uc002qcj.4	-	2	651	c.431A>T	c.(430-432)aAt>aTt	p.N144I	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.N144I|NLRP12_uc002qci.4_Missense_Mutation_p.N144I|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.N144I	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	144					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAGGCGCGCATTGCGGTCTTC	0.567000													46	136					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480514	140480514	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140480514A>G	uc003lio.3	+	0	281	c.281A>G	c.(280-282)gAg>gGg	p.E94G	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	94	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGGGAGGAGCTATGCGGC	0.463000													10	153					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr21:14414902G>A	uc002yiy.3	+	1		c.339G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CCAGCTTGACGTCCTTGATGG	0.443000													3	20					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100915722	100915722	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:100915722C>T	uc002tal.4	-	5	1967	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	LONRF2_uc010yvs.2_Intron	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	443					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCAGTTACATCAAGCGAGAGC	0.418000													6	32					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400532	67400532	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:67400532C>T	uc001omp.3	-	4	680	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	198					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACGAAGACCACGTGGAAACGG	0.567000													24	344					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000													6	37					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95503832	95503832	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:95503832C>T	uc003ygo.2	-	21	5185	c.5114G>A	c.(5113-5115)aGg>aAg	p.R1705K	KIAA1429_uc010maz.2_Intron	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1705					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTGAAAAACCTATTCTGACT	0.393000													6	118					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117185	117185	+	RNA	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrGL000205.1:117185C>T	uc002kgk.4	+	0		c.563C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TAAAGAATGGCCCTTGTGGAT	0.493000													4	145					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587270	179587270	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:179587270C>T	uc021vsy.1	-	73	18737	c.18512G>A	c.(18511-18513)cGc>cAc	p.R6171H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2832H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7098	Ig-like 43.						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)			TGGGAGTTGGCGCTCTGTAGG	0.378000													4	135					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8750372	8750372	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:8750372T>G	uc003wsj.1	-	0	760	c.197A>C	c.(196-198)gAg>gCg	p.E66A		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	66										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCAGTGCCTCAATGTCCCC	0.746000													4	19					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	82					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278387	114278387	+	Silent	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr4:114278387T>C	uc003ibe.4	+	37	8713	c.8613T>C	c.(8611-8613)atT>atC	p.I2871I	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.I2886I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2838					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATCTTCTATTCAAAAAACAG	0.373000													4	164					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		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)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	7					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152813393	152813393	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:152813393C>T	uc004fht.1	+	6	1185	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	ATP2B3_uc004fhs.1_Silent_p.P353P	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	353					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAACGCACCCAAAAAGGAGA	0.592000													18	85					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27208913	27208913	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:27208913G>A	uc002hdc.3	-	7	956	c.833C>T	c.(832-834)aCg>aTg	p.T278M		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	278					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTCCTTGTCCGTACGCAGGAT	0.617000													4	146					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139291430	139291430	+	Splice_Site	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:139291430G>A	uc004chh.3	-	2	186	c.177_splice	c.e2+1	p.S59_splice		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	59					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACAGTTACCGAGATCGGGGG	0.567000													51	108					0	0	1	0	0
SF3A2	8175	broad.mit.edu	37	19	2247981	2247981	+	Silent	SNP	A	A	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:2247981A>C	uc002lvg.3	+	8	953	c.831A>C	c.(829-831)ccA>ccC	p.P277P	AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	277	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CCCCGGGACCACCCCAGCTAC	0.756000													4	5					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327629	21327629	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:21327629T>A	uc001req.4	+	3	449	c.345T>A	c.(343-345)caT>caA	p.H115Q		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	115					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTTGCCACATTTCTTCATGG	0.323000													21	32					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	713193	713193	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:713193G>A	uc003zgl.1	+	6	3076	c.2427G>A	c.(2425-2427)gaG>gaA	p.E809E	KANK1_uc003zgm.3_Silent_p.E809E|KANK1_uc003zgn.1_Silent_p.E809E|KANK1_uc003zgo.1_Silent_p.E809E|KANK1_uc003zgp.1_Silent_p.E809E|KANK1_uc003zgq.2_Silent_p.E651E|KANK1_uc003zgr.1_Silent_p.E651E|KANK1_uc003zgs.1_Silent_p.E651E	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	809					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AATCTCTGGAGAACCCCCAGC	0.572000													17	167					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2892078	2892078	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:2892078C>G	uc003mug.3	-	5	833	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Missense_Mutation_p.E41Q	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	238					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTGCTGAGCTCCACGCCGTCG	0.642000													4	142					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139768055	139768055	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:139768055C>T	uc003yvd.3	-	18	2367	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	COL22A1_uc011ljo.2_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	640	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGTGGCCCCGCAGGTCCCA	0.547000										HNSCC(7;0.00092)			11	156					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000													4	42					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940500	76940500	+	Splice_Site	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76940500T>C	uc004ecp.4	-	8	827	c.595_splice	c.e8-1	p.N199_splice	ATRX_uc004ecq.4_Splice_Site_p.N161_splice|ATRX_uc004eco.4_Splice_Site|ATRX_uc004ecr.2_Splice_Site_p.N160_splice|ATRX_uc010nlx.1_Splice_Site_p.N199_splice|ATRX_uc010nly.1_Splice_Site_p.N144_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	199	ADD.				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.?(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)	AAAGCAATTCTATTAAAAGAA	0.294000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						5	31					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187326	6187326	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:6187326C>T	uc002mef.1	+	11	1800	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	ACSBG2_uc002mee.1_Missense_Mutation_p.P338S|ACSBG2_uc002meg.1_Missense_Mutation_p.P525S|ACSBG2_uc002meh.1_Missense_Mutation_p.P525S|ACSBG2_uc002mei.1_Missense_Mutation_p.P475S|ACSBG2_uc010xiz.1_Missense_Mutation_p.P525S	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	525					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAAATGTGCCCCCCATTCC	0.483000													14	164					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	16					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100175	27100176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr1:27100175_27100176insC	uc001bmv.1	+	15	4344_4345	c.3971_3972insC	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcagc	0.599			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								8	148	---	---	---	---					
RG9MTD1	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr3:101284009delA	uc003duz.3	+	1	532	c.384delA	c.(382-384)gcafs	p.A128fs	RG9MTD1_uc021xbw.1_Frame_Shift_Del_p.A128fs	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	128					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						CTAACACAGCaaaaaaaaaat	0.343													8	66	---	---	---	---					
TBL1XR1	79718	broad.mit.edu	37	3	176782756	176782756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr3:176782756delT	uc003fiw.4	-	2	270	c.10delA	c.(10-12)agcfs	p.S4fs	TBL1XR1_uc003fix.4_Frame_Shift_Del_p.S4fs|TBL1XR1_uc011bpz.2_Intron|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.S4fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	4	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCATCACTGCTTATACTCATC	0.289													2	4	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:97736519_97736521delGCT	uc003upd.2	+	0	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	16					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													2	4	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:133220099_133220100delCA	uc001uks.1	-	33	4381_4382	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1446fs	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.V250fs|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Frame_Shift_Del_p.V1419fs	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1446					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					7	406	---	---	---	---					
ATP11A	23250	broad.mit.edu	37	13	113487270	113487270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr13:113487270delG	uc001vsj.4	+	13	1580	c.1492delG	c.(1492-1494)gggfs	p.G498fs	ATP11A_uc001vsi.4_Frame_Shift_Del_p.G498fs|ATP11A_uc001vsm.1_Frame_Shift_Del_p.G374fs	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	498					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCGCCGGACGGGGGGAAATC	0.622													7	497	---	---	---	---					
FIZ1	84922	broad.mit.edu	37	19	56104856	56104856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:56104856delA	uc002qli.4	-	2	541	c.451delT	c.(451-453)tgcfs	p.C151fs	FIZ1_uc002qlj.4_Frame_Shift_Del_p.C151fs	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.C151C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGACGGAGCAGGGCGCACTC	0.761													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76814303_76814306delATAA	uc004ecp.4	-	28	6570_6573	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.F2113fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.F2075fs|ATRX_uc004eco.4_Frame_Shift_Del_p.F1898fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2113	Helicase C-terminal.				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.F2113fs*9(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)	AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	12	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76909677	76909680	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76909677_76909680delCTTT	uc004ecp.4	-	13	4457_4460	c.4225_4228delAAAG	c.(4225-4230)aaagcafs	p.K1409fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1371fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1194fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1341fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1409					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.K1409fs*80(1)|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)	TCCAACTCTGCTTTCTTTGCAGAC	0.319			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	48	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937770	76937770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76937770delT	uc004ecp.4	-	8	3210	c.2978delA	c.(2977-2979)aagfs	p.K993fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K955fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K778fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K925fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K964fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K938fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	993					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.?(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)	TGAAGGTTTCTTTTTTTCTTC	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						11	74	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													7	260	---	---	---	---					
