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
CYP4F30P	100132708	broad.mit.edu	37	2	131447731	131447731	+	RNA	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:131447731G>A	uc002tru.1	+	3		c.1440G>A								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 30, pseudogene (CYP4F30P), non-coding RNA.																		TATAGACAACGCCATTATTGA	0.423000														3			3		0	0	0.009096	0	0
SLX4	84464	broad.mit.edu	37	16	3640690	3640690	+	Silent	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:3640690G>A	uc002cvp.2	-	11	3576	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	983	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGAGCTGTTCGTAATCCCCGG	0.572000								Direct reversal of damage						109			121		0	0	0.048971	0	0
SLC7A9	11136	broad.mit.edu	37	19	33350866	33350866	+	Missense_Mutation	SNP	G	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:33350866G>T	uc002ntv.4	-	7	871	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.L252M|SLC7A9_uc021usa.1_Missense_Mutation_p.L252M|SLC7A9_uc002ntw.4_Missense_Mutation_p.L43M|JA660679_uc021usb.1_5'Flank	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	252					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCAAAGGCAGGTTTCTGGGA	0.602000														69			19		2.4624e-09	2.6947e-09	0.049695	1	0
NDUFAF3	25915	broad.mit.edu	37	3	49059582	49059582	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:49059582C>G	uc003cvq.3	+	0	509	c.5C>G	c.(4-6)gCc>gGc	p.A2G	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|MIR425_uc011bcb.1_5'Flank|NDUFAF3_uc003cvn.3_Intron|MIR191_uc003cvo.1_5'Flank|NDUFAF3_uc003cvp.3_Intron|NDUFAF3_uc003cvr.3_Intron	NM_199069	NP_951056	Q9BU61	NDUF3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	2					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TCAGCCATGGCCACCGCTCTC	0.716000											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			13		0	0	0.093190	0	0
CPA1	1357	broad.mit.edu	37	7	130024455	130024455	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:130024455G>A	uc003vpx.3	+	6	847	c.775G>A	c.(775-777)Gct>Act	p.A259T	CPA1_uc003vpw.2_Missense_Mutation_p.A93T	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	259					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAACTGGGACGCTGGCTTTGG	0.602000														140			11		0	0	0.105934	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011457	46011457	+	Silent	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr21:46011457G>A	uc002zfm.3	-	0	930	c.909C>T	c.(907-909)tcC>tcT	p.S303S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	303	29 X 5 AA repeats of C-C-X(3).|Poly-Ser.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGAGGGACACGGAGGAGGAGG	0.677000														103			8		0	0	0.099896	0	0
IL1R2	7850	broad.mit.edu	37	2	102626194	102626194	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:102626194G>A	uc002tbm.3	+	2	467	c.238G>A	c.(238-240)Gga>Aga	p.G80R	IL1R2_uc002tbn.3_Missense_Mutation_p.G80R|IL1R2_uc002tbo.1_Missense_Mutation_p.G80R	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	80	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GACGGTCCCAGGAGAAGAAGA	0.592000														546			13		0	0	0.105934	0	0
IGSF1	3547	broad.mit.edu	37	X	130416639	130416639	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:130416639C>G	uc004ewe.4	-	6	1308	c.1025G>C	c.(1024-1026)cGg>cCg	p.R342P	IGSF1_uc004ewd.3_Missense_Mutation_p.R342P|IGSF1_uc022cdv.1_Missense_Mutation_p.R333P|IGSF1_uc004ewf.2_Missense_Mutation_p.R322P	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	342	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTCGACACCGTAGGCTCAC	0.498000														232			8		0	0	0.047766	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:148012531C>T	uc001eqq.3	-	11	1460	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Silent_p.K387K|NBPF14_uc021owc.1_Silent_p.K143K|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Non-coding_Transcript|NBPF14_uc021owg.1_Silent_p.K631K|NBPF14_uc021owh.1_Silent_p.K387K|NBPF14_uc010pad.1_5'Flank|NBPF14_uc021owd.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	476	NBPF 5.					cytoplasm		p.K476K(4)|p.K476N(2)|p.E475Q(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000														16			3		0	0	0.004672	0	0
ZCRB1	85437	broad.mit.edu	37	12	42711595	42711595	+	Missense_Mutation	SNP	G	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:42711595G>T	uc001rmz.3	-	3	428	c.219C>A	c.(217-219)aaC>aaA	p.N73K		NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	Homo sapiens zinc finger CCHC-type and RNA binding motif 1 (ZCRB1), mRNA.	73	RRM.				mRNA processing	U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTACCTGTTTGTTGTTTATTG	0.393000														130			91		1.31458e-49	1.46626e-49	0.048971	1	0
TP53	7157	broad.mit.edu	37	17	7574035	7574035	+	Splice_Site	SNP	T	G	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574035T>G	uc002gim.2	-	10	1188	c.994_splice	c.e10-1	p.I332_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_Splice_Site|TP53_uc010cnf.1_Splice_Site|TP53_uc002gii.1_Splice_Site_p.I200_splice|TP53_uc010cni.1_Splice_Site|TP53_uc010cnh.1_Splice_Site|TP53_uc002gij.2_Splice_Site_p.I332_splice|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	332	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		I -> V (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.?(10)|p.0?(8)|p.I332fs*49(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)		CCCACGGATCTGCAGCAACAG	0.507000		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)				31			14		0	0	0.024245	0	0
ACAN	176	broad.mit.edu	37	15	89398499	89398499	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:89398499C>T	uc010upo.1	+	11	3057	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	ACAN_uc010upp.1_Missense_Mutation_p.P895S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	895					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AAGTGGACTGCCCTCTGGAGA	0.572000														53			40		0	0	0.080422	0	0
abParts	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr22:22664141G>A	uc021wml.1	+	31		c.2583G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAATTTGAAGGTGCTGTGATT	0.448000														192			5		0	0	0.038147	0	0
LPHN2	23266	broad.mit.edu	37	1	82456736	82456736	+	Silent	SNP	T	C	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:82456736T>C	uc001dit.4	+	20	4300	c.4119T>C	c.(4117-4119)aaT>aaC	p.N1373N	LPHN2_uc001dis.3_Silent_p.N353N|LPHN2_uc001diu.3_Silent_p.N1373N|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Silent_p.N1000N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1429					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.G1372C(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		gcaggggcaatagtgatggtt	0.428000														68			48		0	0	0.048971	0	0
MYH7	4625	broad.mit.edu	37	14	23884933	23884933	+	Silent	SNP	A	G	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr14:23884933A>G	uc001wjx.3	-	34	5168	c.5062T>C	c.(5062-5064)Ttg>Ctg	p.L1688L		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1688					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACGGCACGCAACTCCTCCAGC	0.622000														69			3		0	0	0.004672	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276462	18276462	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr10:18276462G>A	uc001ipo.2	+	6	1424	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E	SLC39A12_uc001ipn.2_Missense_Mutation_p.G384E|SLC39A12_uc001ipp.2_Missense_Mutation_p.G384E|SLC39A12_uc010qck.1_Missense_Mutation_p.G250E	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	384					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCATGCTGGGGACAGCGCTG	0.562000														119			4		0	0	0.009096	0	0
RBM11	54033	broad.mit.edu	37	21	15599378	15599378	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr21:15599378G>A	uc002yjo.4	+	4	652	c.610G>A	c.(610-612)Gct>Act	p.A204T	RBM11_uc002yjn.4_Missense_Mutation_p.A90T|RBM11_uc002yjp.4_Missense_Mutation_p.A90T	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	204							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCAGATGACAGCTCCACTTCC	0.463000														361			99		0	0	0.048971	0	0
FAM40A	85369	broad.mit.edu	37	1	110581798	110581798	+	Silent	SNP	A	G	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:110581798A>G	uc001dza.1	+	3	349	c.330A>G	c.(328-330)acA>acG	p.T110T	FAM40A_uc001dyz.1_Silent_p.T15T|FAM40A_uc009wfp.1_5'UTR	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	110						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CTGCAGTGACAGACAAGAAGT	0.522000														129			3		0	0	0.009096	0	0
MAML2	84441	broad.mit.edu	37	11	95712904	95712904	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:95712904C>G	uc001pfw.1	-	4	3964	c.2679G>C	c.(2677-2679)caG>caC	p.Q893H		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	893					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGGTTTCTCTGTTGGGTCA	0.408000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									90			112		0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7577572	7577572	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7577572T>C	uc002gim.2	-	6	903	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_uc002gig.1_Missense_Mutation_p.M237V|TP53_uc002gih.3_Missense_Mutation_p.M237V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M105V|TP53_uc010cnf.1_Missense_Mutation_p.M105V|TP53_uc002gii.1_Missense_Mutation_p.M105V|TP53_uc010cni.1_Missense_Mutation_p.M237V|TP53_uc010cnh.1_Missense_Mutation_p.M237V|TP53_uc002gij.2_Missense_Mutation_p.M237V|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M144V|TP53_uc002gio.2_Missense_Mutation_p.M105V|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.Y236C(52)|p.Y236N(12)|p.M237V(12)|p.Y236*(10)|p.Y236H(9)|p.M237K(9)|p.0?(8)|p.M237L(8)|p.Y236D(7)|p.M237fs*10(6)|p.?(5)|p.Y236del(4)|p.M237_N239delMCN(3)|p.Y236S(3)|p.M237R(3)|p.Y236_M243delYMCNSSCM(2)|p.Y236fs*4(2)|p.Y236_M237>*L(2)|p.Y236_M237insXX(2)|p.Y236Y(2)|p.M237fs*1(2)|p.Y236_M237delYM(2)|p.H233_C242del10(2)|p.M237T(2)|p.M144L(1)|p.V225fs*23(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.N235_Y236delNY(1)|p.Y236fs*5(1)|p.M237_C238insX(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)		CTGTTACACATGTAGTTGTAG	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)				67			41		0	0	0.039052	0	0
PCDH7	5099	broad.mit.edu	37	4	31144181	31144181	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr4:31144181C>T	uc021xnd.1	+	2	4486	c.3478C>T	c.(3478-3480)Ccg>Tcg	p.P1160S	PCDH7_uc011bxx.2_Missense_Mutation_p.P1152S	NM_001173523	NP_001166994	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant d, mRNA.	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTGCTGGATGCCGGTCCGCAC	0.537000														267			5		0	0	0.014758	0	0
ITGB6	3694	broad.mit.edu	37	2	160998543	160998543	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:160998543G>A	uc002ubh.2	-	7	1072	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.L353F|ITGB6_uc010zcq.1_Missense_Mutation_p.L311F|ITGB6_uc010fov.1_Missense_Mutation_p.L353F	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	353	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCTTCTGAAGTAGACCTACT	0.373000														112			5		0	0	0.014758	0	0
SLC25A40	55972	broad.mit.edu	37	7	87466058	87466058	+	Silent	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:87466058G>A	uc003uje.3	-	10	1266	c.891C>T	c.(889-891)tcC>tcT	p.S297S		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	297					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAAATAATCCGGAAAATCCAT	0.259000														58			28		0	0	0.099896	0	0
PELI3	246330	broad.mit.edu	37	11	66243277	66243277	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:66243277C>T	uc001oic.4	+	7	1213	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	PELI3_uc021qlx.1_Missense_Mutation_p.A326V|PELI3_uc001oid.4_Missense_Mutation_p.A326V|PELI3_uc021qly.1_Missense_Mutation_p.A243V	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	350						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCACAGCGCCCGACAAA	0.736000														14			3		0	0	0.014758	0	0
ABCC12	94160	broad.mit.edu	37	16	48174762	48174762	+	Silent	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:48174762G>A	uc002efc.1	-	3	839	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.L165L|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	165	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTATGCACAGTCCAATGCCA	0.537000														97			76		0	0	0.048971	0	0
SPTBN5	51332	broad.mit.edu	37	15	42172441	42172441	+	Silent	SNP	A	G	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:42172441A>G	uc001zos.3	-	13	2956	c.2623T>C	c.(2623-2625)Ttg>Ctg	p.L875L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	910					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCAGCCACAACTGGAGCTCC	0.632000														10			4		0	0	0.047766	0	0
NF1	4763	broad.mit.edu	37	17	29556166	29556166	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:29556166T>C	uc002hgg.3	+	20	2916	c.2533T>C	c.(2533-2535)Tgt>Cgt	p.C845R	NF1_uc002hgh.3_Missense_Mutation_p.C845R|NF1_uc010csn.2_Missense_Mutation_p.C705R|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	845					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.C845Y(1)|p.C845_Q853>*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTTCCTTTGTGCCCTTGG	0.512000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				12			101		0	0	0.048971	0	0
UBXN7	26043	broad.mit.edu	37	3	196094958	196094958	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:196094958C>T	uc003fwm.4	-	7	850	c.775G>A	c.(775-777)Ggt>Agt	p.G259S	UBXN7_uc003fwn.4_Missense_Mutation_p.G111S|UBXN7_uc010iae.3_Missense_Mutation_p.G97S	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	259							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCATGTTCACCCAGAAATCCC	0.398000														232			19		0	0	0.043863	0	0
CCDC40	55036	broad.mit.edu	37	17	78032380	78032380	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:78032380G>A	uc010dht.3	+	7	1278	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	CCDC40_uc010wub.2_Missense_Mutation_p.R416H|CCDC40_uc021uem.1_Missense_Mutation_p.R416H|CCDC40_uc002jxm.4_Missense_Mutation_p.R199H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	416					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACGACATCCGCGTGATGACA	0.537000														11			120		0	0	0.048971	0	0
INTS4	92105	broad.mit.edu	37	11	77639508	77639508	+	Silent	SNP	A	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:77639508A>T	uc001oys.3	-	10	1279	c.1251T>A	c.(1249-1251)gtT>gtA	p.V417V	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Silent_p.V417V	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	417					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGAACATGTCAACTAGGAAAT	0.443000														24			47		0	0	0.039052	0	0
KISS1	3814	broad.mit.edu	37	1	204159803	204159803	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:204159803C>G	uc001har.3	-	2	380	c.226G>C	c.(226-228)Gag>Cag	p.E76Q		NM_002256	NP_002247	Q15726	KISS1_HUMAN	Homo sapiens KiSS-1 metastasis-suppressor (KISS1), mRNA.	76					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CCGGAGCTCTCGGGGGGCGGG	0.756000														10			2		0	0	0.004672	0	0
COL11A1	1301	broad.mit.edu	37	1	103491403	103491403	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:103491403T>C	uc001dum.3	-	5	1204	c.886A>G	c.(886-888)Aag>Gag	p.K296E	COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTCTTCTTCTTGGATGAA	0.363000														400			5		0	0	0.021553	0	0
LAMC1	3915	broad.mit.edu	37	1	183091039	183091039	+	Silent	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:183091039C>T	uc001gpy.4	+	11	2429	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	724	Laminin EGF-like 6.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.C724C(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTGCTTTGCGCCTGCAATG	0.478000														103			4		0	0	0.009096	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247163	26247163	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:26247163C>T	uc003nhf.3	-	0	43	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	15					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G15S(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CACTTGGCACCGCCTTTCCCA	0.517000														93			20		0	0	0.049695	0	0
ACOXL	55289	broad.mit.edu	37	2	111562956	111562956	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:111562956C>T	uc010yxk.1	+	8	961	c.737C>T	c.(736-738)gCt>gTt	p.A246V	ACOXL_uc021vmm.1_Missense_Mutation_p.A69V|ACOXL_uc021vmn.1_Missense_Mutation_p.A69V	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	246					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCTTTCCAAGCTATGGGTGCC	0.453000														116			75		0	0	0.048971	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713607	32713607	+	Missense_Mutation	SNP	C	T	T	rs144060347		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:32713607C>T	uc003obx.3	+	2	429	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	124	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTGTGACGCTGGGTCAG	0.507000														120			121		0	0	0.048971	0	0
PLIN4	729359	broad.mit.edu	37	19	4511095	4511095	+	Silent	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:4511095G>A	uc002mar.1	-	2	2835	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	945	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CATCCTTAGCGCCACTCAGCA	0.592000														82			32		0	0	0.050027	0	0
APOB	338	broad.mit.edu	37	2	21228172	21228172	+	Silent	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:21228172G>A	uc002red.3	-	25	11696	c.11568C>T	c.(11566-11568)atC>atT	p.I3856I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3856					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCAGGCACGATGATGGTGG	0.473000														119			110		0	0	0.048971	0	0
RFWD2	64326	broad.mit.edu	37	1	176132075	176132075	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:176132075T>C	uc001gku.1	-	4	948	c.692A>G	c.(691-693)gAt>gGt	p.D231G	RFWD2_uc001gkv.1_Missense_Mutation_p.D227G|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'UTR|RFWD2_uc001gkt.1_Missense_Mutation_p.D90G	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	231					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCAAGGTTATCTTGGTCAGT	0.358000														97			80		0	0	0.048971	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009308	88009308	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:88009308C>G	uc022bzq.1	+	0	893	c.893C>G	c.(892-894)tCt>tGt	p.S298C	CPXCR1_uc004efd.4_Missense_Mutation_p.S298C|CPXCR1_uc004efc.4_Missense_Mutation_p.S298C	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	298						intracellular	zinc ion binding	p.S297I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCATGCAGCTCTTCTGGGAAT	0.294000														118			4		0	0	0.009096	0	0
NPIP	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000														281			6		0	0	0.038147	0	0
LOC100288778	100288778	broad.mit.edu	37	12	90890	90890	+	Silent	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:90890G>A	uc010scy.2	+	9	1311	c.756G>A	c.(754-756)caG>caA	p.Q252Q	LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdd.2_3'UTR|LOC100288778_uc010sde.2_Silent_p.Q252Q|LOC100288778_uc010sdf.2_Silent_p.Q252Q|LOC100288778_uc010sdg.2_Silent_p.Q252Q|LOC100288778_uc010sdh.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																		CACCGCAGCAGCCACAGGTAG	0.647000														25			5		0	0	0.029380	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281250	15281250	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:15281250C>T	uc002nan.3	-	26	5082	c.5006G>A	c.(5005-5007)cGc>cAc	p.R1669H		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1669					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCTGTGCTCGCGCTTGCGCCG	0.677000														57			44		0	0	0.039052	0	0
PHF20L1	51105	broad.mit.edu	37	8	133837542	133837542	+	Missense_Mutation	SNP	A	C	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr8:133837542A>C	uc003ytt.3	+	13	1995	c.1670A>C	c.(1669-1671)gAg>gCg	p.E557A	PHF20L1_uc003yts.3_3'UTR|PHF20L1_uc011lja.2_Missense_Mutation_p.E531A|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	557	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			gaaagaagagagaagagagac	0.338000														37			3		0	0	0.004672	0	0
ATN1	1822	broad.mit.edu	37	12	7046127	7046127	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:7046127C>T	uc001qrw.1	+	4	1934	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L	ATN1_uc001qrx.1_Missense_Mutation_p.P566L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	566	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCCAATGGCCCTCCAGTCTCT	0.637000														196			17		0	0	0.038395	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397261	51397261	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:51397261G>A	uc001zyy.3	-	0	213	c.113C>T	c.(112-114)gCc>gTc	p.A38V		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	38			A -> T (in dbSNP:rs17647084).							endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTGTAACGTGGCATCCCTTGT	0.522000														233			6		0	0	0.021553	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	-	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:700532delT	uc001abo.3	-	6		c.1084delA								Homo sapiens general transcription factor IIi pseudogene (LOC100288069), non-coding RNA.																		aaaaaaaaaaTTCCTTTGGGA	0.453													---	7	---	---	5	---					
UGGT1	56886	broad.mit.edu	37	2	128938471	128938471	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:128938471delT	uc002tps.3	+	35	4086	c.3908delT	c.(3907-3909)atafs	p.I1303fs	UGGT1_uc002tpr.3_Frame_Shift_Del_p.I1279fs	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1303	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAGGAGTTTATACCTTACATG	0.373													---	75	---	---	54	---					
SETD2	29072	broad.mit.edu	37	3	47103668	47103705	+	Frame_Shift_Del	DEL	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	-	-	rs149758106		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:47103668_47103705delTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	uc003cqv.3	-	14	6528_6565	c.6442_6479delCTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAA	c.(6442-6480)ctctcaccaccctcttctgcctatgagcggggaacaaaafs	p.L2148fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.L2081fs|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2081	Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTGGCCTTTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAGGGAGCTTCTT	0.429			"""N, F, S, Mis"""		clear cell renal carcinoma								---	490	---	---	38	---					
TP63	8626	broad.mit.edu	37	3	189612149	189612149	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:189612149delG	uc003fry.2	+	13	1990	c.1901delG	c.(1900-1902)cggfs	p.R634fs	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Frame_Shift_Del_p.R540fs|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Frame_Shift_Del_p.R455fs	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	634	Transactivation inhibition.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTGAGACCCGGGGTGAGCGT	0.567										HNSCC(45;0.13)			---	156	---	---	107	---					
abParts	0	broad.mit.edu	37	14	106354475	106354481	+	Splice_Site	DEL	ACAGGAG	-	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr14:106354475_106354481delACAGGAG	uc021ser.1	-	3847		c.57904_splice	c.e3847+0		KIAA0125_uc001ysq.3_5'Flank|KIAA0125_uc001ysr.3_5'Flank					Parts of antibodies, mostly variable regions.																		TCCTGTCCCTACAGGAGACTGGTGTCA	0.541													---	6	---	---	5	---					
TP53	7157	broad.mit.edu	37	17	7574025	7574025	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574025delC	uc002gim.2	-	9	1196	c.1002delG	c.(1000-1002)gggfs	p.G334fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.G202fs|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.G334fs|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	334	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (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.0?(8)|p.G334V(5)|p.R333fs*12(2)|p.?(1)|p.G334W(1)|p.I332fs*5(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)		AGCGCTCACGCCCACGGATCT	0.522		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)			---	38	---	---	19	---					
