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
CD46	4179	broad.mit.edu	37	1	207930382	207930382	+	Missense_Mutation	SNP	T	T	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:207930382T>C	uc001hgc.3	+	1	296	c.121T>C	c.(121-123)Ttt>Ctt	p.F41L	CD46_uc001hgg.3_Missense_Mutation_p.F41L|CD46_uc001hgh.3_Missense_Mutation_p.F41L|CD46_uc001hgi.3_Missense_Mutation_p.F41L|CD46_uc001hgj.3_Missense_Mutation_p.F41L|CD46_uc001hgm.3_Missense_Mutation_p.F41L|CD46_uc001hgl.3_Missense_Mutation_p.F41L|CD46_uc001hgp.3_Missense_Mutation_p.F41L	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	41	Sushi 1.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GCCACCAACATTTGAAGCTAT	0.413000													28	39					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383673	108383673	+	Missense_Mutation	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:108383673G>A	uc001pkk.3	-	5	2672	c.2561C>T	c.(2560-2562)aCt>aTt	p.T854I	EXPH5_uc010rvz.2_Missense_Mutation_p.T698I|EXPH5_uc010rvy.2_Missense_Mutation_p.T666I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	854					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGAGTATCAGTCAGTGCAGA	0.403000													41	120					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1634358	1634358	+	Missense_Mutation	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1634358G>A	uc002cmb.3	-	10	1581	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	IFT140_uc002clz.3_Missense_Mutation_p.R58W	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	407										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GACATGGCCCGCTCGCTGAGG	0.587000													3	32					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48390284	48390284	+	Missense_Mutation	SNP	T	T	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:48390284T>C	uc003toq.2	+	29	10273	c.10249T>C	c.(10249-10251)Ttc>Ctc	p.F3417L	ABCA13_uc010kys.1_Missense_Mutation_p.F491L|ABCA13_uc003tos.1_Missense_Mutation_p.F243L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3417					transport	integral to membrane	ATP binding|ATPase activity	p.K3416N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGCTGGACGCTTCCGTTTCTT	0.522000													42	70					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142630466	142630466	+	Missense_Mutation	SNP	G	G	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:142630466G>T	uc003wby.1	-	0	355	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	TRPV5_uc003wbz.3_Missense_Mutation_p.Q31K	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	31					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.Q31K(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCAGGTGCTGGTCCCAGTCT	0.567000													4	97					1.23904e-05	1.32754e-05	1	1	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7577099C>T	uc002gim.2	-	7	1033	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R280K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R148K|TP53_uc010cnf.1_Missense_Mutation_p.R148K|TP53_uc002gii.1_Missense_Mutation_p.R148K|TP53_uc010cni.1_Missense_Mutation_p.R280K|TP53_uc010cnh.1_Missense_Mutation_p.R280K|TP53_uc002gij.2_Missense_Mutation_p.R280K|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(126)|p.R280K(96)|p.G279E(31)|p.R280I(30)|p.R280G(19)|p.R280S(15)|p.R280fs*65(8)|p.G279R(8)|p.R280*(8)|p.0?(8)|p.G279V(4)|p.R280_D281delRD(4)|p.G279G(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.G279_R280delGR(2)|p.R280fs*62(2)|p.G279W(2)|p.G279fs*59(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.G279fs*65(2)|p.G279fs*27(2)|p.A276fs*64(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.D281fs*24(1)|p.C275fs*20(1)|p.G279fs*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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			18	25					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204306	9204306	+	Missense_Mutation	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr19:9204306C>T	uc010xkj.2	+	0	386	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCTGCCACCCATTGCACTAC	0.552000													26	55					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1557307	1557307	+	Silent	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:1557307C>T	uc002fte.3	-	37	6105	c.5991G>A	c.(5989-5991)gtG>gtA	p.V1997V		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1997	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCCACGTTCACACTGTGGG	0.517000													42	188					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47688737	47688737	+	Missense_Mutation	SNP	T	T	G			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:47688737T>G	uc002ipg.3	-	5	860	c.563A>C	c.(562-564)gAt>gCt	p.D188A	SPOP_uc010dbk.3_Missense_Mutation_p.D188A|SPOP_uc002ipb.3_Missense_Mutation_p.D188A|SPOP_uc002ipc.3_Missense_Mutation_p.D188A|SPOP_uc002ipd.3_Missense_Mutation_p.D188A|SPOP_uc002ipe.3_Missense_Mutation_p.D188A|SPOP_uc002ipf.3_Missense_Mutation_p.D188A	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	188	BTB.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCCTAACTCATCTGCCAGCCG	0.502000										Prostate(2;0.17)			102	148					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842846	4842846	+	Silent	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:4842846C>T	uc010qyn.2	+	0	231	c.231C>T	c.(229-231)ctC>ctT	p.L77L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTATTTCCTCTCTATGCTTT	0.458000													35	159					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189927953	189927953	+	Missense_Mutation	SNP	A	A	G			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:189927953A>G	uc002uqk.3	-	26	2089	c.1814T>C	c.(1813-1815)aTa>aCa	p.I605T	COL5A2_uc010frx.3_Missense_Mutation_p.I181T	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	605					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTGATTCCTATGGAGCCTGG	0.512000													48	75					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620440	144620440	+	Missense_Mutation	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr8:144620440G>A	uc003yyd.2	-	1	1126	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	366					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGGAGGACGTGGCTGGCTT	0.627000													4	130					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								34	63					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000													4	39					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	T	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:71249558T>A	uc001oqr.1	+	0	488	c.457T>A	c.(457-459)Tgc>Agc	p.C153S		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	153	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCTGCTGCTCTTC	0.602000													9	482					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119909950	119909950	+	Missense_Mutation	SNP	T	T	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr12:119909950T>C	uc001txe.3	+	2	787	c.322T>C	c.(322-324)Tat>Cat	p.Y108H	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	108										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGAAATCCACTATGGGGACAC	0.448000													19	272					0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117019898	117019898	+	Missense_Mutation	SNP	G	G	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:117019898G>C	uc003pxh.3	+	4	503	c.372G>C	c.(370-372)caG>caC	p.Q124H		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	121					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGTTATACAGAAACCAGGAG	0.299000													4	19					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122758005	122758005	+	Missense_Mutation	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:122758005C>T	uc004etu.3	-	26	3256	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1075					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCAGTTGCCCGTAATATGGT	0.328000													27	4					0	0	1	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291161	1291161	+	Silent	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1291161C>T	uc002ckz.3	+	2	121	c.69C>T	c.(67-69)ggC>ggT	p.G23G	TPSAB1_uc010uux.2_5'UTR	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	23					proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	p.G23V(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CAGCCCCAGGCCAGGCCCTGC	0.716000													4	44					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107821211	107821211	+	Silent	SNP	A	A	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:107821211A>T	uc022ccg.1	+	10	841	c.639A>T	c.(637-639)ggA>ggT	p.G213G	COL4A5_uc004enz.1_Silent_p.G213G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	213	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACTTCCAGGACCTAAGGTAA	0.328000									Alport syndrome with Diffuse Leiomyomatosis				18	1					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	371468	371468	+	Missense_Mutation	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr9:371468G>A	uc003zgf.2	+	16	2021	c.1909G>A	c.(1909-1911)Gct>Act	p.A637T	DOCK8_uc022bcu.1_Missense_Mutation_p.A569T|DOCK8_uc010mgv.3_Missense_Mutation_p.A569T|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgw.2_Intron|DOCK8_uc003zgk.2_Missense_Mutation_p.A95T|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	637					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAGCTCCCCGCTAAGCTCAC	0.418000													51	67					0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175220324	175220324	+	Missense_Mutation	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr4:175220324C>T	uc010iro.2	+	2	357	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Missense_Mutation_p.R18C	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	18						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						ACAGGTGCTCCGCTTGCTAAA	0.358000													39	39					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26458908	26458908	+	Missense_Mutation	SNP	T	T	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:26458908T>C	uc003nib.2	+	1	292	c.44T>C	c.(43-45)cTc>cCc	p.L15P	BTN2A1_uc021yni.1_Missense_Mutation_p.L15P|BTN2A1_uc003nic.2_Missense_Mutation_p.L15P|BTN2A1_uc011dko.2_Intron	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	15					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCAGCCTCCCTCCTCCTCCTC	0.582000													5	183					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974585	16974585	+	RNA	SNP	C	C	T	rs142060675	by1000genomes	TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:16974585C>T	uc009vow.2	+	4		c.1395C>T			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GAACTTCTGCCGGAACCCCGA	0.662000													4	115					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662186	227662186	+	Silent	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:227662186G>A	uc021vxn.1	-	0	1269	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	IRS1_uc002voh.4_Silent_p.G423G	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	423	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGATGAAACCGCCATCGCTGG	0.607000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	148					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553131	106553131	+	Missense_Mutation	SNP	G	G	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:106553131G>T	uc003prd.2	+	4	1330	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	PRDM1_uc003pre.3_Missense_Mutation_p.G232C	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	366					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGTGGGCCCCGGCTCTCAAGA	0.647000			"""D, N, Mis, F, S"""		DLBCL								3	56					1	1	1	1	0
FAHD1	81889	broad.mit.edu	37	16	1877307	1877307	+	Missense_Mutation	SNP	A	A	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1877307A>T	uc002cnc.1	+	0	83	c.77A>T	c.(76-78)aAc>aTc	p.N26I	HAGH_uc002cmz.3_5'Flank|HAGH_uc002cna.3_5'Flank|HAGH_uc010uvp.2_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.3_Missense_Mutation_p.N26I|FAHD1_uc010brz.3_Missense_Mutation_p.N26I	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 1 (FAHD1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	26						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GTGGGGAGGAACTACGCGGAC	0.642000													4	102					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51624506	51624508	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr3:51624506_51624508delGAG	uc011bdt.2	+	1	195_197	c.70_72delGAG	c.(70-72)gagdel	p.E30del	RAD54L2_uc003dbh.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	30						nucleus	ATP binding|DNA binding|helicase activity	p.E30V(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ggatgcggaagaggaggaggagg	0.586													2	4	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	37044565	37044565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr5:37044565delG	uc003jkl.4	+	34	6724	c.6225delG	c.(6223-6225)aagfs	p.K2075fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.K2075fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2075					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTAATGAAGCTCATCATCA	0.328													48	68	---	---	---	---					
MBL2	4153	broad.mit.edu	37	10	54527961	54527961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr10:54527961delT	uc001jjt.3	-	3	748	c.683delA	c.(682-684)aatfs	p.N228fs		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	228	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCACTGGCCATTTTTCAGTAG	0.483													7	579	---	---	---	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr15:31196894delA	uc001zff.3	+	1	319	c.28delA	c.(28-30)aaafs	p.K10fs	FAN1_uc001zfc.3_Frame_Shift_Del_p.K10fs|FAN1_uc010azw.2_Frame_Shift_Del_p.K10fs|FAN1_uc001zfd.3_Frame_Shift_Del_p.K10fs|FAN1_uc001zfe.3_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	10					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					7	128	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578474	7578475	+	Frame_Shift_Ins	INS	-	-	GG	rs137852790		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7578474_7578475insGG	uc002gim.2	-	4	649_650	c.455_456insCC	c.(454-456)ccgfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gih.3_Frame_Shift_Ins_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P20fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P152fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P152fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Ins_p.P59fs|TP53_uc002gio.2_Frame_Shift_Ins_p.P20fs|TP53_uc010vug.2_Frame_Shift_Ins_p.P113fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P152L(129)|p.P151S(66)|p.P151H(27)|p.P152fs*18(23)|p.P152S(22)|p.P152R(14)|p.P151T(14)|p.P151P(12)|p.P152P(10)|p.P152fs*14(10)|p.P153fs*28(9)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.?(5)|p.P152fs*28(4)|p.P59L(2)|p.P151_V173del23(2)|p.P152_P153del(2)|p.P152fs*27(2)|p.P20L(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.Q144_G154del11(2)|p.P152_P153insXXX(2)|p.P152A(2)|p.P153fs*16(1)|p.G154fs*16(1)|p.P20R(1)|p.P59R(1)|p.T57fs*16(1)|p.P151del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.G154fs*27(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GGGTGCCGGGCGGGGGTGTGGA	0.614		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)			44	89	---	---	---	---					
MYO15A	51168	broad.mit.edu	37	17	18024582	18024582	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:18024582delC	uc021trm.1	+	0	2687	c.2468delC	c.(2467-2469)tccfs	p.S823fs	MYO15A_uc021trl.1_Frame_Shift_Del_p.S823fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	823	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGCAGGAGTCCCCAGCCCCA	0.801													2	4	---	---	---	---					
CABLES1	91768	broad.mit.edu	37	18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr18:20716015_20716023delGGCGCCGGC	uc002kuc.2	+	0	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	CABLES1_uc002kub.2_Intron	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	97	Ala-rich.|Interacts with TDRD7 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785													5	1	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76855018	76855019	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:76855018_76855019insT	uc004ecp.4	-	24	6049_6050	c.5817_5818insA	c.(5815-5820)aaagatfs	p.K1939fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K1901fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K1724fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1939	Poly-Lys.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.D1940fs*14(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)	GAGCTACTATCTTTTTTCCCCT	0.356			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						204	90	---	---	---	---					
