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
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577144A>C	ENST00000420246.2	-	8	926	c.794T>G	c.(793-795)cTg>cGg	p.L265R	TP53_ENST00000455263.2_Missense_Mutation_p.L265R|TP53_ENST00000269305.4_Missense_Mutation_p.L265R|TP53_ENST00000359597.4_Missense_Mutation_p.L265R|TP53_ENST00000445888.2_Missense_Mutation_p.L265R|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)		GTTCCGTCCCAGTAGATTACC	0.522000		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)			15	36					0	0	1	0	0
VMP1	81671	broad.mit.edu	37	17	57851219	57851219	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:57851219G>T	ENST00000262291.4	+	7	997	c.687G>T	c.(685-687)gaG>gaT	p.E229D	VMP1_ENST00000537567.1_Missense_Mutation_p.E95D|VMP1_ENST00000539763.1_Missense_Mutation_p.E37D|VMP1_ENST00000536180.1_Missense_Mutation_p.E132D|VMP1_ENST00000545362.1_Missense_Mutation_p.E173D	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	229					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						AATTTGAAGAGATGCTGGAAC	0.438000													13	96					9.31168e-06	1.12288e-05	1	1	0
SPIRE1	56907	broad.mit.edu	37	18	12493109	12493109	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:12493109C>T	ENST00000409402.4	-	8	1418	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	SPIRE1_ENST00000383356.2_Missense_Mutation_p.R225Q|SPIRE1_ENST00000453447.2_Missense_Mutation_p.R264Q|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R384Q|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R187Q|SPIRE1_ENST00000464481.1_5'UTR	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	384	WH2 2.					cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGATACAGGCCGCAGCTTTCT	0.458000													13	99					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105752650	105752650	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105752650G>A	ENST00000546474.1	-	2	15207	c.248C>T	c.(247-249)gCg>gTg	p.A83V	BRF1_ENST00000548421.1_Missense_Mutation_p.A83V|BRF1_ENST00000440513.3_5'UTR|BRF1_ENST00000327359.3_5'UTR|BRF1_ENST00000379937.2_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	83					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGGGTCTGCGCTCTCGACTC	0.587000													3	34					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220240686	220240686	+	Silent	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:220240686T>C	ENST00000469520.2	-	7	881	c.432A>G	c.(430-432)aaA>aaG	p.K144K	BPNT1_ENST00000354807.3_Silent_p.K144K|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000414869.2_Silent_p.K108K|BPNT1_ENST00000322067.7_Silent_p.K144K|BPNT1_ENST00000544404.1_Silent_p.K89K			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	144					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CTGCTATGGCTTTTCCTTCAT	0.289000													3	112					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96639008	96639008	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:96639008A>T	ENST00000324765.8	+	25	3457	c.3110A>T	c.(3109-3111)cAg>cTg	p.Q1037L	DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q1033L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1037					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTAGAACGCCAGAAGAAAAAG	0.313000													4	51					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	55					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67222689	67222689	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:67222689C>A	ENST00000314586.6	-	4	602	c.362G>T	c.(361-363)cGg>cTg	p.R121L	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	121	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						AACCCGCTCCCGTAGGGGCTC	0.672000													4	139					0.150653	0.164714	1	1	0
ARAP1	116985	broad.mit.edu	37	11	72410502	72410502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:72410502C>A	ENST00000359373.5	-	17	3249	c.2398G>T	c.(2398-2400)Gag>Tag	p.E800*	ARAP1_ENST00000426523.1_Nonsense_Mutation_p.E555*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.E560*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.E800*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.E555*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.E800*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.E494*			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	800	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACACAATCTCGCTGGCCCGA	0.592000													3	93					1	1	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28327096	28327096	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr21:28327096T>C	ENST00000284987.5	-	2	1320	c.1199A>G	c.(1198-1200)gAt>gGt	p.D400G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	400	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GTGGAGGCCATCGTCTTCAAT	0.517000													7	152					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428085	119428085	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:119428085G>A	ENST00000369429.3	-	8	1088	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	TBX15_ENST00000207157.3_Missense_Mutation_p.S254L			Q96SF7	TBX15_HUMAN	T-box 15	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAAGAAGCCGAAGGGGATGG	0.478000													4	30					0	0	1	0	0
ODF3	113746	broad.mit.edu	37	11	200001	200001	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:200001T>G	ENST00000325113.4	+	7	1050	c.733T>G	c.(733-735)Tac>Gac	p.Y245D	ODF3_ENST00000525282.1_Missense_Mutation_p.Y198D|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	245					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACACTCTGATTACATGACTCC	0.607000													3	94					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31380280	31380280	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31380280G>A	ENST00000355683.5	-	11	1650	c.1435C>T	c.(1435-1437)Ccg>Tcg	p.P479S	STRN3_ENST00000357479.5_Missense_Mutation_p.P563S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	563					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.P479T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGGACTCGGCATATTCCAC	0.368000													4	181					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	37					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	141					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459569	105459569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:105459569C>A	ENST00000351513.2	-	3	718	c.586G>T	c.(586-588)Gga>Tga	p.G196*		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	196					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAAGTCTCCATTTTCCGCA	0.458000													3	82					1	1	1	1	0
A2M	2	broad.mit.edu	37	12	9243977	9243977	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9243977G>A	ENST00000318602.7	-	19	2596	c.2289C>T	c.(2287-2289)acC>acT	p.T763T		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	763					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTTCCACTCGGTGATGGTGT	0.522000													19	174					0	0	1	0	0
HLA-DRB6	0	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs117454723	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1																						AACAGCCCTGTCCCAAGGAAG	0.507000													4	18					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	572531	572531	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:572531G>A	ENST00000230449.4	-	13	1567	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	EXOC2_ENST00000448181.3_Missense_Mutation_p.L73F	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	478					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCACTGAAGAGGCTTCCATTA	0.438000													13	69					0	0	1	0	0
FAM5B	0	broad.mit.edu	37	1	177226474	177226474	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:177226474C>A	ENST00000361539.4	+	4	935	c.623C>A	c.(622-624)aCg>aAg	p.T208K	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		208						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGAGAGAGCACGCTGCGACGG	0.607000													3	65					0.00909568	0.0105049	1	1	0
F5	2153	broad.mit.edu	37	1	169529938	169529938	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:169529938T>C	ENST00000367796.3	-	4	641	c.440A>G	c.(439-441)gAa>gGa	p.E147G	F5_ENST00000546081.1_Missense_Mutation_p.E10G|F5_ENST00000367797.3_Missense_Mutation_p.E147G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	147	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATAGGTGTATTCTCGGCCTGG	0.517000													43	276					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347239	222347239	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:222347239A>G	ENST00000281821.2	-	5	1192	c.1151T>C	c.(1150-1152)gTc>gCc	p.V384A	EPHA4_ENST00000409938.1_Missense_Mutation_p.V384A|EPHA4_ENST00000409854.1_Missense_Mutation_p.V384A|EPHA4_ENST00000392071.4_Missense_Mutation_p.V333A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	384	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAGTGGACCCCACTTCC	0.512000													88	518					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23837026	23837026	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:23837026A>C	ENST00000359788.4	-	4	877	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	237					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AATTGGTTAAAAGTTCTGTCA	0.323000													5	147					0	0	1	0	0
CYP2D7P1	0	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:42538870A>C	ENST00000433992.1	-	0	475				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	27					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45148519	45148519	+	Silent	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:45148519C>T	ENST00000258770.3	-	2	439	c.318G>A	c.(316-318)cgG>cgA	p.R106R	TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Silent_p.R106R|TBRG4_ENST00000395655.4_Silent_p.R106R|TBRG4_ENST00000494076.1_Silent_p.R106R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	106					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						AGTGAGAGAGCCGGATAAGTA	0.517000													5	242					0	0	1	0	0
MIR371B	0	broad.mit.edu	37	19	54290996	54290996	+	RNA	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:54290996C>A	ENST00000595160.1	-	0	300					NR_029864.1|NR_029865.1|NR_039909.1																						TGAGTGTTACCGCTTGAGAAG	0.577000													3	104					1	1	1	1	0
HOXD4	3233	broad.mit.edu	37	2	177017514	177017514	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:177017514C>A	ENST00000306324.3	+	2	1024	c.612C>A	c.(610-612)aaC>aaA	p.N204K	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGTTCCAGAACCGGAGGATGA	0.502000													19	151					5.3912e-06	6.59819e-06	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								41	87					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35600456	35600456	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:35600456C>T	ENST00000353139.5	-	22	3243	c.2762G>A	c.(2761-2763)cGa>cAa	p.R921Q	ACACA_ENST00000394406.2_Missense_Mutation_p.R884Q|ACACA_ENST00000335166.5_Missense_Mutation_p.R806Q|ACACA_ENST00000360679.3_Missense_Mutation_p.R826Q	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	884					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCATCAATCGCTCTACCCA	0.423000													91	273					0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13050007	13050007	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:13050007C>G	ENST00000316448.5	+	2	224	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	51	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATTCGTTCTCAGTTCCGG	0.527000											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	21					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614421	135614421	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:135614421T>C	ENST00000520727.1	-	7	1804	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	ZFAT_ENST00000520356.1_Missense_Mutation_p.D502G|ZFAT_ENST00000523399.1_Missense_Mutation_p.D452G|ZFAT_ENST00000520214.1_Missense_Mutation_p.D502G|ZFAT_ENST00000429442.2_Missense_Mutation_p.D502G|ZFAT_ENST00000377838.3_Missense_Mutation_p.D514G	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTAGCTGGTCCCCCAGAGC	0.617000													4	73					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39334685	39334685	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:39334685T>C	ENST00000221419.5	-	5	1136	c.770A>G	c.(769-771)tAt>tGt	p.Y257C	HNRNPL_ENST00000600873.1_Missense_Mutation_p.Y124C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	257	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACAGCCAGAATAGATATCAGC	0.517000													19	190					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233150467	233150467	+	Silent	SNP	G	G	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:233150467G>C	ENST00000258229.8	-	28	5130	c.4896C>G	c.(4894-4896)gcC>gcG	p.A1632A	PCNXL2_ENST00000344698.2_Silent_p.A284A	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1632						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGTGCACAGGGCGAAGGACA	0.537000													5	169					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317915	9317915	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9317915G>A	ENST00000261336.2	-	19	2335	c.2307C>T	c.(2305-2307)acC>acT	p.T769T	PZP_ENST00000381997.2_Silent_p.T638T|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTTCCACTCGGTGATGGTGT	0.537000													31	99					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256411	34256411	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr9:34256411G>T	ENST00000379166.2	-	11	3313	c.3194C>A	c.(3193-3195)tCt>tAt	p.S1065Y	KIF24_ENST00000402558.2_Missense_Mutation_p.S1065Y|KIF24_ENST00000379174.3_Missense_Mutation_p.S931Y|KIF24_ENST00000345050.2_Missense_Mutation_p.S931Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CGAGGGAGGAGACCCTTCGTT	0.592000													4	138					0.00909568	0.0105049	1	1	0
MANSC1	54682	broad.mit.edu	37	12	12483294	12483294	+	Silent	SNP	C	C	T	rs146158847	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:12483294C>T	ENST00000535902.1	-	4	1526	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MANSC1_ENST00000396349.3_Silent_p.P287P|MANSC1_ENST00000545735.1_Silent_p.P240P			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	321	Thr-rich.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCTGTAAACGGTATGGTTT	0.458000													24	210					0	0	1	0	0
HIGD1A	25994	broad.mit.edu	37	3	42835698	42835698	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:42835698C>A	ENST00000321331.7	-	2	165	c.48G>T	c.(46-48)caG>caT	p.Q16H	HIGD1A_ENST00000430190.1_Missense_Mutation_p.Q16H|HIGD1A_ENST00000418900.2_Missense_Mutation_p.Q16H|HIGD1A_ENST00000470543.1_Intron|HIGD1A_ENST00000452906.2_Missense_Mutation_p.Q30H	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	16	HIG1.				response to stress	integral to membrane|protein complex	protein binding			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GTTTTGATCCCTGATCTTCCT	0.398000													4	160					0.150653	0.164714	1	1	0
CETN1	1068	broad.mit.edu	37	18	580651	580651	+	Silent	SNP	G	G	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:580651G>T	ENST00000327228.3	+	1	285	c.243G>T	c.(241-243)acG>acT	p.T81T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	81	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGAAGGCACGGGGAAGATCA	0.537000													3	84					1	1	1	1	0
MLH1	4292	broad.mit.edu	37	3	37045902	37045902	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:37045902G>A	ENST00000231790.2	+	4	533	c.317G>A	c.(316-318)aGc>aAc	p.S106N	MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.S8N|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000539477.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	106			S -> R (in gastric cancer; uncertain pathogenicity).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCTTTGGCCAGCATAAGCCAT	0.408000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	246					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555560	50555560	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:50555560G>A	ENST00000267845.3	-	2	478	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	HDC_ENST00000543581.1_Missense_Mutation_p.R26W	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	26					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGTCTCTCCCGCACAGTGCTC	0.577000													4	168					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843453	24843453	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:24843453G>A	ENST00000259698.4	-	14	1732	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	FAM65B_ENST00000378023.4_Silent_p.C469C|FAM65B_ENST00000538035.1_Silent_p.C498C|FAM65B_ENST00000540914.1_Silent_p.C469C|FAM65B_ENST00000510784.2_Silent_p.C503C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	519					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ACTGTCGGCGGCAAGCCTCAG	0.587000													4	105					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105518221	105518221	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105518221C>T	ENST00000329797.3	-	4	1164	c.253G>A	c.(253-255)Gca>Aca	p.A85T	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.A85T|GPR132_ENST00000392585.2_Missense_Mutation_p.A76T	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	85					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A85T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGAGTGCCAGGCAGAGC	0.657000													4	176					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137222679	137222679	+	Missense_Mutation	SNP	C	C	A	rs147891371		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:137222679C>A	ENST00000239926.4	+	9	1691	c.1317C>A	c.(1315-1317)gaC>gaA	p.D439E	MYOT_ENST00000421631.2_Missense_Mutation_p.D255E|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.D324E	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	439	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAGATTAGACGTTACGGGTA	0.328000													3	139					0.150653	0.164714	1	1	0
CHD9	80205	broad.mit.edu	37	16	53338156	53338156	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:53338156C>A	ENST00000566029.1	+	31	6447	c.6238C>A	c.(6238-6240)Cca>Aca	p.P2080T	CHD9_ENST00000447540.1_Missense_Mutation_p.P2080T|CHD9_ENST00000564845.1_Missense_Mutation_p.P2080T|CHD9_ENST00000398510.3_Missense_Mutation_p.P2080T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2080					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCCTGTAAGTCCAAAGAATGG	0.428000													3	35					1	1	1	1	0
HEXA	3073	broad.mit.edu	37	15	72668152	72668152	+	Silent	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:72668152C>T	ENST00000268097.5	-	1	665	c.162G>A	c.(160-162)gcG>gcA	p.A54A	HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000457859.2_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Silent_p.A54A|HEXA_ENST00000566304.1_Silent_p.A54A|HEXA_ENST00000567213.1_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	54					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGCCGGGCTGCGCGGCCGAGC	0.617000													5	336					0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37138975	37138975	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:37138975G>C	ENST00000373509.5	+	4	688	c.315G>C	c.(313-315)agG>agC	p.R105S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	196					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCGTCATTAGGCTCCTGGACT	0.617000			T	BCL6	NHL								5	347					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427893	47427893	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:47427893G>A	ENST00000295454.3	+	9	1575	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R358H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	428					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCAAGGGGCGCATCCGCAGG	0.607000													4	174					0	0	1	0	0
DUSP11	8446	broad.mit.edu	37	2	74002107	74002107	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:74002107C>A	ENST00000443070.1	-	3	388	c.383G>T	c.(382-384)cGa>cTa	p.R128L	DUSP11_ENST00000272444.3_Missense_Mutation_p.R128L|DUSP11_ENST00000377706.4_Missense_Mutation_p.R81L|DUSP11_ENST00000480948.1_5'UTR			O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	81	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						ATTTTGTTCTCGGATTTTGTT	0.338000													3	173					0.115264	0.131273	1	1	0
RGS9	8787	broad.mit.edu	37	17	63200387	63200387	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:63200387G>A	ENST00000449996.3	+	15	1234	c.1162G>A	c.(1162-1164)Gca>Aca	p.A388T	RGS9_ENST00000262406.9_Missense_Mutation_p.A391T|RGS9_ENST00000443584.3_Missense_Mutation_p.A388T	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	391	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTGGACGCCGCACAAACCCA	0.562000													4	115					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118523986	118523986	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:118523986T>C	ENST00000336338.5	-	43	5976	c.5911A>G	c.(5911-5913)Agt>Ggt	p.S1971G	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1971						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGGCACACTTGAGGATTTC	0.343000													30	179					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17402181	17402181	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:17402181C>T	ENST00000375486.4	-	12	1511	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	PADI2_ENST00000444885.2_Missense_Mutation_p.G367D|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	483					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TACCTTTGTGCCGGGGATGGG	0.587000											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	199					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8200512	8200512	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:8200512G>A	ENST00000162391.3	+	7	1997	c.852G>A	c.(850-852)tcG>tcA	p.S284S	FOXJ2_ENST00000428177.2_Silent_p.S284S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	284					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCACCCTCGAACAACTACT	0.567000													9	88					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31348670	31348670	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31348670T>C	ENST00000460581.2	+	4	625	c.79T>C	c.(79-81)Tcc>Ccc	p.S27P	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.S139P|COCH_ENST00000396618.3_Missense_Mutation_p.S139P|COCH_ENST00000216361.4_Missense_Mutation_p.S139P			O43405	COCH_HUMAN	cochlin	139					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		ACAAGCAGTGTCCACAGCACA	0.393000													44	129					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211549	59211549	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:59211549C>T	ENST00000302030.2	+	1	933	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCAAGGATGCCCTGTGGAAG	0.428000													5	306					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112756	168112756	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:168112756C>T	ENST00000519560.1	-	31	3910	c.3491G>A	c.(3490-3492)gGc>gAc	p.G1164D	SLIT3_ENST00000332966.8_Missense_Mutation_p.G1171D|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1164D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1164	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGTCTTTGCCCACGAAGTT	0.662000													4	111					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169636	207169636	+	Silent	SNP	G	G	A	rs143619911	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:207169636G>A	ENST00000374423.3	+	5	770	c.384G>A	c.(382-384)acG>acA	p.T128T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	128							nucleic acid binding|zinc ion binding	p.T128T(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAAGGCACGCAGGAGGTTT	0.453000													12	62					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													4	32					0	0	1	0	0
TRABD	80305	broad.mit.edu	37	22	50636413	50636413	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:50636413G>A	ENST00000303434.4	+	8	952	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	TRABD_ENST00000395827.1_Missense_Mutation_p.R278Q|TRABD_ENST00000395829.1_Missense_Mutation_p.R278Q|TRABD_ENST00000380909.4_Missense_Mutation_p.R278Q	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	278										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCTGCCTCGGGCCTCTGAC	0.697000													35	58					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56823426	56823426	+	Silent	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:56823426T>C	ENST00000257287.4	+	5	634	c.510T>C	c.(508-510)cgT>cgC	p.R170R	CEP135_ENST00000422247.2_Silent_p.R170R	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	170					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGCGCCAGCGTATGCAAATTG	0.398000													4	271					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155530752	155530752	+	Splice_Site	SNP	A	A	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:155530752A>G	ENST00000401878.3	+	11	1591		c.e11-1			NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33								nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTTACCTTTCAGTTTCAGGTG	0.468000													38	136					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084365	107084365	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:107084365G>A	ENST00000262843.6	+	2	1018	c.470G>A	c.(469-471)tGt>tAt	p.C157Y	MID2_ENST00000443968.2_Missense_Mutation_p.C157Y	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	157						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCATCACCTGTGAGGTCTCC	0.562000													20	26					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130251	34130251	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:34130251T>C	ENST00000389232.4	+	89	12140	c.12070T>C	c.(12070-12072)Tac>Cac	p.Y4024H	RYR3_ENST00000415757.3_Missense_Mutation_p.Y4019H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4024					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTGCTAAATTACTTCGAACC	0.468000													74	198					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80544072	80544072	+	Silent	SNP	C	C	G	rs111240743		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:80544072C>G	ENST00000335255.5	+	7	1746	c.1572C>G	c.(1570-1572)gtC>gtG	p.V524V		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	524					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACAGGGAAGTCAAAGGTAGGC	0.632000													3	42					0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57805333	57805333	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:57805333C>T	ENST00000379655.4	-	6	799	c.542G>A	c.(541-543)cGt>cAt	p.R181H	KIFC3_ENST00000540079.2_Missense_Mutation_p.R79H|KIFC3_ENST00000539578.1_Missense_Mutation_p.R123H|KIFC3_ENST00000562903.1_Missense_Mutation_p.R42H|KIFC3_ENST00000543930.1_Missense_Mutation_p.R42H|KIFC3_ENST00000465878.2_Missense_Mutation_p.R42H|KIFC3_ENST00000445690.2_Missense_Mutation_p.R181H|KIFC3_ENST00000421376.2_Missense_Mutation_p.R42H|KIFC3_ENST00000541240.1_Missense_Mutation_p.R203H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	181					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CAGCTTGTCACGGAGCTGGGC	0.627000													6	397					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34152413	34152413	+	Missense_Mutation	SNP	A	A	C	rs147641652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:34152413A>C	ENST00000257829.3	+	13	1504	c.1298A>C	c.(1297-1299)cAa>cCa	p.Q433P	NAT10_ENST00000531159.2_Missense_Mutation_p.Q361P|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	433						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CAGCTCCGTCAACAGAGCGCC	0.567000													34	127					0	0	1	0	0
RP11-108M9.2	0	broad.mit.edu	37	1	17185383	17185384	+	RNA	INS	-	-	C	rs33920141	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:17185383_17185384insC	ENST00000414128.1	+	0	646																											ACTAAATTTTTAGTGCAATAAT	0.465													3	5	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													9	533	---	---	---	---					
STAG3L4	0	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423													5	5	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46789159	46789159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:46789159delT	ENST00000529230.1	-	27	3423	c.3377delA	c.(3376-3378)agfs	p.K1126fs	CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K1126fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1126					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AGCTTTGGCCTTTTTTGGATC	0.323													7	308	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248158	75248159	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:75248158_75248159delAT	ENST00000325680.7	+	4	1536_1537	c.1412_1413delAT	c.(1411-1413)cfs	p.H471fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Del_p.H471fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCTATCCTCATAAAGATCAGC	0.446													7	42	---	---	---	---					
HERC2P9	0	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1																						actctgtctcaaaaaaaaaaa	0.413													4	9	---	---	---	---					
RP11-463M16.4	0	broad.mit.edu	37	17	46977254	46977254	+	RNA	DEL	A	A	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:46977254delA	ENST00000508743.1	-	0	45																											ctaaaaatgcaaaaaaaaatt	0.502													2	4	---	---	---	---					
NDUFV2	4729	broad.mit.edu	37	18	9134225	9134241	+	Frame_Shift_Del	DEL	CTTTGACTGAACCACCC	CTTTGACTGAACCACCC	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:9134225_9134241delCTTTGACTGAACCACCC	ENST00000400033.1	+	9	824_840	c.707_723delCTTTGACTGAACCACCC	c.(706-723)tfs	p.SLTEPP236fs	RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000318388.6_Frame_Shift_Del_p.SLTEPP233fs|NDUFV2_ENST00000465096.1_3'UTR			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	233					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	GGTCTTACCTCTTTGACTGAACCACCCAAGGGACCTG	0.346													16	239	---	---	---	---					
CTC-548K16.2	0	broad.mit.edu	37	19	14473564	14473567	+	RNA	DEL	GGAA	GGAA	-	rs7507976		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:14473564_14473567delGGAA	ENST00000586698.1	-	0	119																											agaaagagagggaaggaaggaagg	0.436													2	4	---	---	---	---					
CYP2D7P1	0	broad.mit.edu	37	22	42537119	42537120	+	RNA	INS	-	-	A	rs142656198	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:42537119_42537120insA	ENST00000435101.1	-	0	296				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						GGGCTACCACCGGGGCTGATGC	0.614													5	10	---	---	---	---