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	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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)			26	18					0	0	0.693898	0	0
OR2B6	26212	broad.mit.edu	37	6	27925799	27925799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:27925799C>T	ENST00000244623.1	+	1	781	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGTACCTGCAACCACCTTC	0.448000													24	119					0	0	0.639603	0	0
OVCH1	341350	broad.mit.edu	37	12	29618094	29618094	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:29618094C>G	ENST00000318184.5	-	17	1914	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	639	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTGTTGATTCCTTCAGGTTT	0.378000													2	5					0	0	0.115264	0	0
MYH7	4625	broad.mit.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542000													3	88					0	0	0.150653	0	0
AMPD2	271	broad.mit.edu	37	1	110170831	110170831	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:110170831C>T	ENST00000256578.3	+	10	1729	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	AMPD2_ENST00000393688.3_Missense_Mutation_p.R338W|AMPD2_ENST00000528667.1_Missense_Mutation_p.R457W|AMPD2_ENST00000342115.4_Missense_Mutation_p.R376W|AMPD2_ENST00000528454.1_Missense_Mutation_p.R339W|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.R382W	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	457					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGACGCTGCGGGAGGTCTT	0.602000													12	19					0	0	0.435327	0	0
TDO2	6999	broad.mit.edu	37	4	156831281	156831281	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:156831281A>T	ENST00000536354.2	+	6	600	c.536A>T	c.(535-537)cAt>cTt	p.H179L		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	179					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AACAGAAGACATTATCGTGAT	0.373000													11	128					0	0	0.411799	0	0
PCSK9	255738	broad.mit.edu	37	1	55523126	55523126	+	Silent	SNP	C	C	T	rs139683719		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:55523126C>T	ENST00000302118.5	+	7	1409	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	PCSK9_ENST00000543384.1_Silent_p.S173S|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	373	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGCCTCCAGCGACTGCAGCA	0.617000													7	25					0	0	0.278610	0	0
ACSL1	2180	broad.mit.edu	37	4	185679015	185679015	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:185679015C>G	ENST00000515030.1	-	19	2167	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	ACSL1_ENST00000504342.1_Missense_Mutation_p.K614N|ACSL1_ENST00000454703.2_Missense_Mutation_p.K443N|ACSL1_ENST00000437665.3_Missense_Mutation_p.K443N|ACSL1_ENST00000281455.2_Missense_Mutation_p.K614N|ACSL1_ENST00000507295.1_Missense_Mutation_p.K580N|ACSL1_ENST00000513317.1_Missense_Mutation_p.K614N			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	614					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAATCCTCTCTTTTGGGCCC	0.408000													6	127					0	0	0.307466	0	0
LGSN	51557	broad.mit.edu	37	6	63990534	63990534	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:63990534A>G	ENST00000370657.4	-	4	955	c.922T>C	c.(922-924)Ttt>Ctt	p.F308L	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	308					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GAATCACAAAATCCAGTCTCA	0.428000													10	50					0	0	0.361761	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													6	28					0	0	0.248553	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18139760	18139760	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:18139760C>T	ENST00000278816.2	+	5	1183	c.533C>T	c.(532-534)gCa>gTa	p.A178V	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A50V|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.A178V|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.A178V			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	178					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGCACCGTGGCAGGTTGCCTC	0.468000													13	34					0	0	0.539581	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													6	98					0	0	0.248553	0	0
C3orf70	285382	broad.mit.edu	37	3	184870438	184870438	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:184870438G>A	ENST00000335012.2	-	1	364	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	58										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CTAGGTGACAGCACCAGTGCA	0.692000													2	6					0	0	0.115264	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106474027	106474027	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:106474027C>A	ENST00000420470.2	+	1	249	c.105C>A	c.(103-105)gaC>gaA	p.D35E	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.D35E	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	35					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GGAAGACTGACACTGTGGTTG	0.468000													3	41					0.115264	0.118297	0.115264	1	0
TRIP4	9325	broad.mit.edu	37	15	64716294	64716294	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr15:64716294A>T	ENST00000261884.3	+	10	1483	c.1423A>T	c.(1423-1425)Aaa>Taa	p.K475*		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	475					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CACAGCTAAAAAACCCTCCCC	0.448000													21	43					0	0	0.575678	0	0
OAS2	0	broad.mit.edu	37	12	113447044	113447044	+	Missense_Mutation	SNP	C	C	T	rs147522268	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:113447044C>T	ENST00000392583.2	+	10	2255	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	OAS2_ENST00000342315.4_Splice_Site_p.P683_splice|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGAAAGTGCCGGTAAAAGTC	0.458000													11	255					0	0	0.411799	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101576203	101576203	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:101576203C>A	ENST00000326172.5	+	11	2118	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A568D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A546D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	668	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAATTAGATGCTGTCCGCCTG	0.502000													5	59					0.014758	0.0155557	0.184627	1	0
NECAB3	63941	broad.mit.edu	37	20	32246615	32246615	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:32246615A>C	ENST00000246190.6	-	9	960	c.905T>G	c.(904-906)gTc>gGc	p.V302G	NECAB3_ENST00000375238.4_Missense_Mutation_p.V268G|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	302					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	p.V302G(1)		large_intestine(3)|lung(5)|skin(2)	10						TGCCACCTGGACCTGCCTCTG	0.672000													5	15					0	0	0.278610	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	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								17	60					0	0	0.520397	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													3	38					0	0	0.150653	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571395	155571395	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:155571395G>A	ENST00000392845.2	-	1	772	c.392C>T	c.(391-393)gCg>gTg	p.A131V	SLC33A1_ENST00000359479.3_Missense_Mutation_p.A131V	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	131					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACGTAGACCGCATCAACCAA	0.438000													3	43					0	0	0.115264	0	0
FOXP1	27086	broad.mit.edu	37	3	71096104	71096104	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:71096104G>A	ENST00000318789.4	-	10	1178	c.653C>T	c.(652-654)cCt>cTt	p.P218L	FOXP1_ENST00000484350.1_Missense_Mutation_p.P142L|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000498215.1_Missense_Mutation_p.P218L|FOXP1_ENST00000491238.1_Missense_Mutation_p.P220L|FOXP1_ENST00000468577.1_Missense_Mutation_p.P218L|FOXP1_ENST00000493089.1_Missense_Mutation_p.P218L|FOXP1_ENST00000475937.1_Missense_Mutation_p.P218L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	218	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTGAGCAAGAGGTTGAAGGGG	0.502000			T	PAX5	ALL								18	281					0	0	0.520397	0	0
UNC45B	146862	broad.mit.edu	37	17	33475300	33475300	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:33475300G>A	ENST00000268876.5	+	2	115	c.18G>A	c.(16-18)gcG>gcA	p.A6A	UNC45B_ENST00000591048.1_Silent_p.A6A|UNC45B_ENST00000394570.2_Silent_p.A6A|UNC45B_ENST00000433649.1_Silent_p.A6A|UNC45B_ENST00000378449.1_Silent_p.A6A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	6					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTGGAAGCGGTACAGCTGA	0.612000													15	32					0	0	0.500413	0	0
CR2	1380	broad.mit.edu	37	1	207648381	207648381	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:207648381C>T	ENST00000367057.3	+	14	2725	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	CR2_ENST00000367059.3_Missense_Mutation_p.R787C|CR2_ENST00000367058.3_Missense_Mutation_p.R787C|CR2_ENST00000458541.2_Missense_Mutation_p.R760C	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	911					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.R846S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCTGTGACTCGCTGCCCTAA	0.463000													28	78					0	0	0.706142	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132638	59132638	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr11:59132638C>A	ENST00000313940.2	+	1	754	c.707C>A	c.(706-708)tCc>tAc	p.S236Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AAAGGCAGGTCCAAGGCATTC	0.423000													9	187					0.000673444	0.000750409	0.361761	1	0
IL22RA1	58985	broad.mit.edu	37	1	24447958	24447958	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:24447958G>A	ENST00000270800.1	-	7	1100	c.1062C>T	c.(1060-1062)aaC>aaT	p.N354N		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	354						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGGGGCAGCGTTTGGGGCAT	0.607000													47	66					0	0	0.870114	0	0
CEP104	9731	broad.mit.edu	37	1	3740070	3740070	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:3740070G>A	ENST00000378230.3	-	19	2745	c.2421C>T	c.(2419-2421)gaC>gaT	p.D807D		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	807						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTCCAAACCCGTCTTTTTTGT	0.493000													32	57					0	0	0.740014	0	0
MYH2	4620	broad.mit.edu	37	17	10432154	10432154	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:10432154C>G	ENST00000245503.5	-	27	3981	c.3597G>C	c.(3595-3597)agG>agC	p.R1199S	MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1199S|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1199					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGCTTCTTCCTCAGGGTGG	0.552000													5	88					0	0	0.184627	0	0
HSPA1L	0	broad.mit.edu	37	6	31778479	31778479	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:31778479G>T	ENST00000375654.4	-	2	1460	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	HSPA1L_ENST00000417199.3_Missense_Mutation_p.T424N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	424				T -> P (in Ref. 1; AAA63228).	response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCTGCTTGGTGGGGATGGT	0.602000													15	116					2.23348e-06	2.63957e-06	0.500413	1	0
JAG1	182	broad.mit.edu	37	20	10622192	10622192	+	Silent	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:10622192C>T	ENST00000254958.5	-	23	3347	c.2832G>A	c.(2830-2832)gtG>gtA	p.V944V	JAG1_ENST00000423891.2_Silent_p.V785V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	944					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTTGTCTTCACCGGCTGGA	0.537000									Alagille Syndrome				5	160					0	0	0.217242	0	0
PIH1D1	55011	broad.mit.edu	37	19	49954795	49954795	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:49954795C>A	ENST00000262265.5	-	1	272	c.37G>T	c.(37-39)Gag>Tag	p.E13*	PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.E13*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	13					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCCGCCTCGCTTAGCCCC	0.607000													7	34					0.00400662	0.00434051	0.500413	1	0
XAB2	56949	broad.mit.edu	37	19	7686177	7686177	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:7686177C>T	ENST00000358368.4	-	13	1661	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	XAB2_ENST00000534844.1_Missense_Mutation_p.E539K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	542					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATGCCGCGCTCGTACGCCTGT	0.607000								Direct reversal of damage;Nucleotide excision repair (NER)					11	35					0	0	0.387290	0	0
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr21:10944697delA	ENST00000298232.7	-	10	850	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299													10	302	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													4	4	---	---	---	---