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
PTPRG	5793	broad.mit.edu	37	3	62268456	62268456	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:62268456G>C	ENST00000474889.1	+	28	4344	c.3967G>C	c.(3967-3969)Gat>Cat	p.D1323H	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.D1294H|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1323	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCCTAACCCAGATGCCCCCAT	0.428000													17	146					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577115	7577115	+	Missense_Mutation	SNP	A	A	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:7577115A>C	ENST00000420246.2	-	8	955	c.823T>G	c.(823-825)Tgt>Ggt	p.C275G	TP53_ENST00000269305.4_Missense_Mutation_p.C275G|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275G|TP53_ENST00000359597.4_Missense_Mutation_p.C275G|TP53_ENST00000445888.2_Missense_Mutation_p.C275G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GGACAGGCACAAACACGCACC	0.552000		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)			19	14					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111296777	111296777	+	Silent	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr13:111296777A>G	ENST00000257347.4	-	13	1434	c.1371T>C	c.(1369-1371)ttT>ttC	p.F457F	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	457					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AAAACTGTTCAAAGTAAGAGA	0.408000													22	41					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105300205	105300205	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:105300205C>T	ENST00000262903.4	-	2	394	c.118G>A	c.(118-120)Gct>Act	p.A40T	HACE1_ENST00000369125.2_Missense_Mutation_p.A40T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	40					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGTTGATCAGCCATAACCATT	0.393000													9	21					0	0	1	0	0
GOLGA6L5	0	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													4	10					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59225062	59225062	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:59225062G>T	ENST00000300127.2	+	1	652	c.629G>T	c.(628-630)tGg>tTg	p.W210L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACCCTGCTCTGGTTCCTCCTG	0.552000													18	55					6.94344e-10	7.56339e-10	1	1	0
KRT15	3866	broad.mit.edu	37	17	39674590	39674590	+	Missense_Mutation	SNP	G	G	A	rs142682445		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39674590G>A	ENST00000254043.3	-	1	4075	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	KRT15_ENST00000393981.3_Silent_p.S26S|KRT15_ENST00000393974.3_Silent_p.S26S|KRT15_ENST00000393976.2_Missense_Mutation_p.R164W	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	164	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACCTTGTCCCGGAGCTCTTCA	0.527000													20	42					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234392	45234392	+	Silent	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:45234392A>G	ENST00000066544.3	-	7	822	c.729T>C	c.(727-729)gaT>gaC	p.D243D	CDC27_ENST00000531206.1_Silent_p.D243D|CDC27_ENST00000446365.2_Silent_p.D182D|CDC27_ENST00000527547.1_Silent_p.D243D	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	243					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGGGACAGTATCAGGTGAAA	0.363000													3	56					0	0	1	0	0
RP11-69H14.6	0	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													6	50					0	0	1	0	0
PTPRB	0	broad.mit.edu	37	12	70956725	70956725	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:70956725C>G	ENST00000334414.6	-	16	4111	c.4067G>C	c.(4066-4068)aGc>aCc	p.S1356T	PTPRB_ENST00000538708.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1048T|PTPRB_ENST00000551525.1_Missense_Mutation_p.S1355T|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1138T|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1268T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1138	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAAAGAGAAGCTCTGGACTAG	0.473000													27	34					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													5	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474646	179474646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:179474646C>T	ENST00000589042.1	-	272	51728	c.51504G>A	c.(51502-51504)tgG>tgA	p.W17168*	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8103*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W15527*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8228*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8295*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W14600*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15527	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTGGCTTCCATGTAATAG	0.433000													47	129					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47774919	47774919	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:47774919C>T	ENST00000221922.6	+	12	1802	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	527										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGCCTGGCCTTTTGAGAGT	0.652000													12	27					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136558246	136558246	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:136558246G>T	ENST00000264162.2	-	12	4807	c.4797C>A	c.(4795-4797)agC>agA	p.S1599R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1599	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCAGTCACTGCTGATGGTGA	0.522000													12	39					2.27111e-07	2.38858e-07	1	1	0
CEP68	23177	broad.mit.edu	37	2	65298755	65298755	+	Silent	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298755C>G	ENST00000377990.2	+	3	728	c.525C>G	c.(523-525)ctC>ctG	p.L175L	CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.L175L|CEP68_ENST00000546106.1_Silent_p.L175L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	175					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCAGGTCTCTCTTGCCTGT	0.577000													13	35					0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790321	19790321	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:19790321G>A	ENST00000592502.1	+	4	633	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	ZNF101_ENST00000415784.2_Missense_Mutation_p.G55R|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAGGTGTGCGGGAAAGCCTT	0.438000													45	74					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76920261	76920261	+	Silent	SNP	G	G	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76920261G>T	ENST00000373344.5	-	11	4030	c.3816C>A	c.(3814-3816)gcC>gcA	p.A1272A	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.A1234A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1272					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCATCTTCTTGGCAATTCTTG	0.318000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	35					4.3838e-07	4.5324e-07	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681814	55681814	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:55681814A>G	ENST00000344514.1	-	1	244	c.245T>C	c.(244-246)cTg>cCg	p.L82P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAGATCTACCAGCATCTTGGG	0.433000													25	45					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940430	76940430	+	Splice_Site	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76940430C>T	ENST00000373344.5	-	8	877		c.e8+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATATTACCTACCTACATTGTT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						21	84					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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								16	29					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													3	11					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116720523	116720523	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:116720523A>G	ENST00000331677.3	+	3	554	c.110A>G	c.(109-111)aAt>aGt	p.N37S	DSE_ENST00000537543.1_Missense_Mutation_p.N56S|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.N37S|DSE_ENST00000359564.2_Missense_Mutation_p.N37S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	37					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCCTTCACCAATGCCAACTAC	0.552000													8	52					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44004019	44004019	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr20:44004019G>A	ENST00000372726.3	-	4	584	c.428C>T	c.(427-429)aCg>aTg	p.T143M	SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.T127M	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	143					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CGCCAATGACGTTTTCTCCTT	0.502000													52	175					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49851229	49851229	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:49851229C>T	ENST00000376088.3	+	11	1900	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	CLCN5_ENST00000376108.3_Missense_Mutation_p.T350I|CLCN5_ENST00000307367.2_Missense_Mutation_p.T350I|CLCN5_ENST00000376091.3_Missense_Mutation_p.T420I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	350					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CGAAAGACCACCCAGTTGGGC	0.512000													19	34					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378948	138378948	+	Silent	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr9:138378948C>T	ENST00000356818.2	+	4	3141	c.2592C>T	c.(2590-2592)acC>acT	p.T864T	PPP1R26_ENST00000401470.3_Silent_p.T864T|PPP1R26_ENST00000605660.1_Silent_p.T864T|PPP1R26_ENST00000605286.1_Silent_p.T864T|PPP1R26_ENST00000604351.1_Silent_p.T864T|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	864						nucleolus	protein binding										AGGGCCCCACCGCTCTTGGGA	0.632000													8	93					0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131714135	131714135	+	Silent	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr5:131714135G>A	ENST00000245407.3	+	2	680	c.459G>A	c.(457-459)gtG>gtA	p.V153V	SLC22A5_ENST00000435065.2_Silent_p.V177V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	153					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCGTGGGTGTGCTGTTGGGCT	0.547000													95	169					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167802329	167802329	+	Silent	SNP	T	T	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:167802329T>G	ENST00000367848.1	-	25	3710	c.3213A>C	c.(3211-3213)cgA>cgC	p.R1071R	ADCY10_ENST00000545172.1_Silent_p.R1010R|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.R1163R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGAAAGATTCGGTTGAGGA	0.473000													117	187					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10300287	10300287	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:10300287G>A	ENST00000403437.2	-	31	4289	c.4195C>T	c.(4195-4197)Cgc>Tgc	p.R1399C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1399					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTGCAGGCGCTGGGCCAAC	0.493000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				17	32					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61149557	61149557	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:61149557A>T	ENST00000295025.7	+	11	2067	c.1747A>T	c.(1747-1749)Agt>Tgt	p.S583C	REL_ENST00000394479.3_Missense_Mutation_p.S551C	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	583					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ACCATCAAACAGTACTAATCC	0.373000			A		Hodgkin Lymphoma								15	44					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100356833	100356833	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:100356833G>A	ENST00000294724.4	+	22	3348	c.2870G>A	c.(2869-2871)tGt>tAt	p.C957Y	AGL_ENST00000370161.2_Missense_Mutation_p.C941Y|AGL_ENST00000370165.3_Missense_Mutation_p.C957Y|AGL_ENST00000370163.3_Missense_Mutation_p.C957Y|AGL_ENST00000361522.4_Missense_Mutation_p.C940Y|AGL_ENST00000361915.3_Missense_Mutation_p.C957Y|AGL_ENST00000361302.3_Missense_Mutation_p.C941Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	957					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATCCTTTTTGTAATAATTTG	0.368000													22	37					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483000													27	55					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14515962	14515962	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:14515962T>C	ENST00000249923.3	-	3	415	c.115A>G	c.(115-117)Act>Gct	p.T39A	PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.T39A|PSMA1_ENST00000419365.2_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	39					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAAGCTTCAGTCTTTGACTTT	0.289000													12	12					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C	rs78849795		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr10:126727604T>C	ENST00000337195.5	-	3	419	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R|CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R|CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	7					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453000													3	78					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377453	113377453	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:113377453T>A	ENST00000316407.4	-	7	3486	c.3076A>T	c.(3076-3078)Atg>Ttg	p.M1026L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.M1026L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1026					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGATGATCCATCTGATCAGAA	0.348000													11	112					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141289844	141289844	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:141289844C>G	ENST00000286364.3	+	10	989	c.954C>G	c.(952-954)gaC>gaG	p.D318E	RASA2_ENST00000452898.1_Missense_Mutation_p.D318E			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	318					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATACAGAAGACTACGTGCTTC	0.363000													10	15					0	0	1	0	0
TRBV19	0	broad.mit.edu	37	7	142326869	142326869	+	RNA	SNP	A	A	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr7:142326869A>T	ENST00000390393.3	+	0	375																											TGGTACCGACAGGACCCAGGG	0.473000													5	220					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371945	76371945	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:76371945T>G	ENST00000407242.2	-	3	934	c.692A>C	c.(691-693)gAg>gCg	p.E231A	LRRC32_ENST00000404995.1_Missense_Mutation_p.E231A|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.E231A|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	231						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGAAAGGCCTCGATGCTGTT	0.622000													19	40					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849510	73849510	+	Silent	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:73849510A>G	ENST00000523207.1	+	3	2508	c.1920A>G	c.(1918-1920)acA>acG	p.T640T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	640					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCCCAGGGACAGAAGAGCACC	0.602000													4	109					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712253	121712253	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:121712253C>T	ENST00000273691.3	-	6	1316	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ILDR1_ENST00000344209.5_Missense_Mutation_p.R448H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.R416H|ILDR1_ENST00000393631.1_Missense_Mutation_p.R359H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	448						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTGGGCCTGCGGGGCCTCTC	0.677000													6	14					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20852762	20852762	+	Missense_Mutation	SNP	C	C	T	rs151250357	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr14:20852762C>T	ENST00000262715.5	-	22	3258	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	TEP1_ENST00000556935.1_Missense_Mutation_p.R965H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1073					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTCACCTGCGGCAGGTGAT	0.552000													71	147					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284920	15284920	+	Silent	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:15284920G>A	ENST00000263388.2	-	25	4770	c.4695C>T	c.(4693-4695)tcC>tcT	p.S1565S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1565					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCGGGGTTCGGAGCCAGGAC	0.687000													22	32					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18600037	18600037	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:18600037A>G	ENST00000379989.3	+	8	715	c.430A>G	c.(430-432)Agc>Ggc	p.S144G	CDKL5_ENST00000379996.3_Missense_Mutation_p.S144G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	144	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCTCTTAATCAGCCACAATGA	0.303000													34	77					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83442862	83442862	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:83442862C>G	ENST00000262752.2	-	1	53	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	RPS6KA6_ENST00000543399.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	16					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTGAACACTTCCATTTCTCGG	0.667000													8	17					0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53344556	53344556	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:53344556C>T	ENST00000550600.1	+	4	577	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	KRT18_ENST00000388835.3_Missense_Mutation_p.R175C|KRT18_ENST00000388837.2_Missense_Mutation_p.R175C			P05783	K1C18_HUMAN	keratin 18	175	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCTGGCCATGCGCCAGTCTGT	0.527000													4	9					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27503949	27503949	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr16:27503949C>G	ENST00000356183.4	-	18	2977	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D988H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	988						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGATCTTTATCCTGAAACTTT	0.488000													7	134					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298777	65298777	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298777T>C	ENST00000377990.2	+	3	750	c.547T>C	c.(547-549)Tcc>Ccc	p.S183P	CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.S183P|CEP68_ENST00000546106.1_Missense_Mutation_p.S183P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	183					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGTGGAAGTCCGTGCTGAG	0.607000													11	32					0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11710899	11710899	+	Missense_Mutation	SNP	G	G	A	rs144593312		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:11710899G>A	ENST00000353047.6	-	2	318	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.S22F|CTSB_ENST00000415599.2_Missense_Mutation_p.S22F|CTSB_ENST00000530640.2_Missense_Mutation_p.S22F|CTSB_ENST00000534510.1_Missense_Mutation_p.S22F|CTSB_ENST00000345125.3_Missense_Mutation_p.S22F|CTSB_ENST00000434271.1_Missense_Mutation_p.S22F|CTSB_ENST00000533455.1_Missense_Mutation_p.S22F|CTSB_ENST00000453527.2_Missense_Mutation_p.S22F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	22					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GGGATGGAAAGAGGGCCTGCT	0.597000													4	80					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17750478	17750478	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:17750478T>C	ENST00000380060.3	+	8	5125	c.4787T>C	c.(4786-4788)gTc>gCc	p.V1596A	NHS_ENST00000398097.3_Missense_Mutation_p.V1440A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1596						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGCTACAGTGTCCGCTGCCGG	0.587000													30	63					0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206858676	206858678	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:206858676_206858678delGCC	ENST00000367103.3	+	1	295_297	c.102_104delGCC	c.(100-105)cag>ca	p.QP34del	MAPKAPK2_ENST00000294981.4_In_Frame_Del_p.QP34del	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	34	Pro-rich.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ccccggcgcagccgccgccgccg	0.729													2	4	---	---	---	---					
TRBV6-9	0	broad.mit.edu	37	7	142104391	142104394	+	RNA	DEL	TGAG	TGAG	-			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr7:142104391_142104394delTGAG	ENST00000390379.1	-	0	70_73																											TTTTGGGGTCTGAGTGACACCAGC	0.539													8	76	---	---	---	---					
MBL1P	0	broad.mit.edu	37	10	81680655	81680656	+	RNA	INS	-	-	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr10:81680655_81680656insA	ENST00000480805.1	+	0	722_723					NR_002724.2																						AGCTTTTGGGGAAAAAAAAAAG	0.545													3	4	---	---	---	---					
USP32P2	0	broad.mit.edu	37	17	18431578	18431579	+	RNA	INS	-	-	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:18431578_18431579insT	ENST00000425211.1	-	0	1497																											TGACCTCGGGCTTTTTTTTTCT	0.441													2	4	---	---	---	---					
SERPINB10	5273	broad.mit.edu	37	18	61584738	61584739	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr18:61584738_61584739insA	ENST00000238508.3	+	3	276_277	c.217_218insA	c.(217-219)aaafs	p.K73fs		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10									p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCCTGAAAGTGAAAAAAAAAGG	0.282													3	6	---	---	---	---					
CEP89	84902	broad.mit.edu	37	19	33462750	33462750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:33462750delT	ENST00000305768.4	-	1	119	c.31delA	c.(31-33)gtfs	p.S11fs	CEP89_ENST00000590597.1_Frame_Shift_Del_p.S11fs|CEP89_ENST00000591863.1_5'UTR	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	11						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ACGAAATGACTCCTGCGGCCT	0.617													2	4	---	---	---	---