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
NEO1	4756	broad.mit.edu	37	15	73536774	73536774	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:73536774T>C	ENST00000339362.5	+	10	1988	c.1541T>C	c.(1540-1542)aTg>aCg	p.M514T	NEO1_ENST00000558964.1_Missense_Mutation_p.M514T|NEO1_ENST00000560262.1_Missense_Mutation_p.M514T|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Missense_Mutation_p.M514T			Q92859	NEO1_HUMAN	neogenin 1	514	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTTAGAGTTATGGCTCAAAAT	0.473000													19	58					0	0	1	0	0
FAM167B	84734	broad.mit.edu	37	1	32713141	32713141	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:32713141G>A	ENST00000373582.3	+	1	308	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	40										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGACTCGGCGGCCCTCATAT	0.627000													3	44					0	0	1	0	0
PIM2	11040	broad.mit.edu	37	X	48772535	48772535	+	Silent	SNP	A	A	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772535A>T	ENST00000376509.4	-	4	546	c.357T>A	c.(355-357)ccT>ccA	p.P119P		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	119	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GGGCGGGCAAAGGCCGCTCGA	0.597000													12	30					0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075684	106075684	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr10:106075684C>G	ENST00000278071.2	-	3	578	c.126G>C	c.(124-126)caG>caC	p.Q42H	ITPRIP_ENST00000337478.1_Missense_Mutation_p.Q42H|ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q42H	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	42						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCTGGTGCGCCTGCATCTTGC	0.657000													39	52					0	0	1	0	0
NSL1	25936	broad.mit.edu	37	1	212957773	212957773	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:212957773G>A	ENST00000366977.3	-	3	394	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Missense_Mutation_p.R126C|NSL1_ENST00000422588.2_Missense_Mutation_p.R126C|NSL1_ENST00000366975.6_Missense_Mutation_p.R126C|NSL1_ENST00000366978.1_Missense_Mutation_p.R23C	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	126					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TACTGCTTACGTTTTGTGGCT	0.303000													26	86					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3937135	3937135	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:3937135G>A	ENST00000324333.10	-	4	1493	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	GLIS3_ENST00000381971.3_Missense_Mutation_p.R589W|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	434					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGTGGCTCCGCAAGTGGATC	0.498000													4	109					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49583444	49583444	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:49583444C>T	ENST00000371175.4	-	4	559	c.533G>A	c.(532-534)gGg>gAg	p.G178E	RHAG_ENST00000229810.7_Missense_Mutation_p.G178E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	178					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGTAGGCCCCAAAGGCATG	0.468000													5	69					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2012755	2012755	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:2012755G>A	ENST00000529806.1	-	3	627	c.441C>T	c.(439-441)ccC>ccT	p.P147P	RPS2_ENST00000343262.4_Silent_p.P177P|RPS2_ENST00000526522.1_Intron|RPS2_ENST00000530225.1_Silent_p.P177P			P15880	RS2_HUMAN	ribosomal protein S2	177	S5 DRBM.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGACAGTGTGGGGCTTGCCGA	0.672000													8	12					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129906767	129906767	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:129906767A>G	ENST00000222481.4	+	1	101	c.46A>G	c.(46-48)Atc>Gtc	p.I16V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	16					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TTTTGGGCATATCTACTGTCT	0.403000													20	160					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57136753	57136753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:57136753G>A	ENST00000439986.4	-	4	389	c.352C>T	c.(352-354)Cga>Tga	p.R118*	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	118					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGTCATATCGGTATCCCGGA	0.517000													54	92					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7578395G>C	ENST00000420246.2	-	5	667	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D	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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(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.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(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)		CAGCGCTCATGGTGGGGGCAG	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)			29	45					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	284541	284541	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:284541C>T	ENST00000534750.1	+	7	2641	c.2436C>T	c.(2434-2436)gcC>gcT	p.A812A	NLRP6_ENST00000312165.5_Silent_p.A813A	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	813						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGAGCCCTGCCCTGACCACCC	0.672000													5	18					0	0	1	0	0
GAR1	54433	broad.mit.edu	37	4	110739221	110739221	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:110739221A>C	ENST00000226796.6	+	3	608	c.344A>C	c.(343-345)gAa>gCa	p.E115A	GAR1_ENST00000394631.3_Missense_Mutation_p.E115A	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	115					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AAAGTGGATGAAATATTTGGA	0.333000													31	51					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150790022	150790022	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:150790022G>A	ENST00000370357.4	+	6	621	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	126						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGCTTACGAAAACGTGAA	0.303000													15	32					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843026	4843026	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:4843026T>G	ENST00000322110.5	+	1	476	c.411T>G	c.(409-411)ttT>ttG	p.F137L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGATCGTTTTGTGGCCATCT	0.453000													63	124					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41961363	41961363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:41961363C>T	ENST00000219905.7	+	2	452	c.271C>T	c.(271-273)Cga>Tga	p.R91*	MGA_ENST00000566586.1_Nonsense_Mutation_p.R91*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R91*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R91*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.R91*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	91						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTTCTATCATCGAAGCACAGA	0.383000													5	88					0	0	1	0	0
LPPR4	0	broad.mit.edu	37	1	99753613	99753613	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:99753613C>T	ENST00000370185.3	+	2	812	c.315C>T	c.(313-315)gaC>gaT	p.D105D	LPPR4_ENST00000457765.1_Silent_p.D105D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		105							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCTGCTATGACCGGAGTCTTA	0.458000													4	137					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	35					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27256953	27256953	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:27256953G>A	ENST00000238788.9	+	2	232	c.170G>A	c.(169-171)aGc>aAc	p.S57N	TMEM214_ENST00000404032.3_Missense_Mutation_p.S57N	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	57						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAGACCACAAGCACCCTTTAT	0.542000													8	116					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152706891	152706891	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:152706891T>C	ENST00000367255.5	-	55	9171	c.8570A>G	c.(8569-8571)cAt>cGt	p.H2857R	SYNE1_ENST00000448038.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2896R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2857R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2857					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGCTGAATGGAGCCAATC	0.388000										HNSCC(10;0.0054)			34	113					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													6	14					0	0	1	0	0
NOL12	79159	broad.mit.edu	37	22	38084873	38084873	+	Silent	SNP	G	G	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:38084873G>C	ENST00000359114.4	+	4	325	c.255G>C	c.(253-255)ctG>ctC	p.L85L	NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	85						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAGATGAGCTGGACCGGTTGG	0.637000													4	95					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225591028	225591028	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:225591028G>A	ENST00000338179.2	-	14	1950	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	LBR_ENST00000272163.4_Missense_Mutation_p.R609C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	609					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGAAATATACGGTAGGGCACA	0.438000													23	61					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	8					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50297602	50297602	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:50297602G>T	ENST00000330817.5	-	10	1624	c.1351C>A	c.(1351-1353)Ctg>Atg	p.L451M		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	451					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCTGGCCAGGACCCGGTGT	0.637000													3	38					0.115264	0.115264	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33498419	33498419	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:33498419A>G	ENST00000268876.5	+	13	1871	c.1774A>G	c.(1774-1776)Atc>Gtc	p.I592V	UNC45B_ENST00000591048.1_Missense_Mutation_p.I511V|UNC45B_ENST00000433649.1_Missense_Mutation_p.I590V|UNC45B_ENST00000394570.2_Missense_Mutation_p.I590V|UNC45B_ENST00000378449.1_Missense_Mutation_p.I511V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	592					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)				CAAGGAGGTCATCCCAGAGCT	0.607000											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	63					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	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								27	57					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	8					0.00024832	0.000260335	1	1	0
TWSG1	57045	broad.mit.edu	37	18	9359985	9359985	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:9359985C>T	ENST00000262120.5	+	3	330	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	TWSG1_ENST00000581641.1_Missense_Mutation_p.R47W	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	47	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CTGCCAGTGCCGGCCGGGAGA	0.448000													4	39					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70514290	70514290	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:70514290T>C	ENST00000535149.1	+	3	938	c.295T>C	c.(295-297)Tca>Cca	p.S99P	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.S188P|NONO_ENST00000373856.3_Missense_Mutation_p.S188P|NONO_ENST00000276079.8_Missense_Mutation_p.S188P	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	188	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGGAAGGCCCTCAGGAAAAGG	0.522000			T	TFE3	papillary renal cancer								17	41					0	0	1	0	0
PIM2	11040	broad.mit.edu	37	X	48772458	48772458	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772458C>G	ENST00000376509.4	-	4	623	c.434G>C	c.(433-435)gGc>gCc	p.G145A		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	145	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						CACTACTTGGCCAAAGAAGCA	0.572000													18	48					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	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													6	35					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7577102C>T	ENST00000420246.2	-	8	968	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G279E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(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)		CCGGTCTCTCCCAGGACAGGC	0.547000		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)			7	20					0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66243444	66243444	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:66243444C>T	ENST00000349459.6	+	7	1428	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	PELI3_ENST00000320740.7_Silent_p.L406L|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_3'UTR	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	406						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGGCCTCTGCCTGGACCCTGG	0.692000													15	39					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24387782	24387782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:24387782C>T	ENST00000330966.7	-	34	4123	c.3961G>A	c.(3961-3963)Gct>Act	p.A1321T	MYOM3_ENST00000374434.3_Missense_Mutation_p.A1318T|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.A211T			Q5VTT5	MYOM3_HUMAN	myomesin 3	1318										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGTGTTCAGCCATTGCATCC	0.512000													3	34					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55270224	55270224	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:55270224C>T	ENST00000275493.2	+	27	3354	c.3177C>T	c.(3175-3177)ccC>ccT	p.P1059P	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.P1006P|EGFR_ENST00000455089.1_Silent_p.P1014P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1059	Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGCTGTCCCATCAAGGAAG	0.547000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	13					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785379	10785379	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:10785379T>G	ENST00000361367.2	+	9	1573	c.1147T>G	c.(1147-1149)Tct>Gct	p.S383A		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	383					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AATTCTCGGCTCTCTCTATGC	0.353000													25	87					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	9					0.004672	0.00482032	1	1	0
ZNF347	84671	broad.mit.edu	37	19	53644840	53644840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:53644840G>T	ENST00000452676.2	-	5	1670	c.1244C>A	c.(1243-1245)tCa>tAa	p.S415*	ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S415*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.S414*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTGTGAATTTTGAGT	0.428000													10	181					1.58986e-06	1.69412e-06	1	1	0
SSSCA1	10534	broad.mit.edu	37	11	65337966	65337966	+	Missense_Mutation	SNP	G	G	A	rs139666819		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:65337966G>A	ENST00000526877.1	+	1	9	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.A2T|SSSCA1_ENST00000527920.1_5'UTR			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	2					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CGGCAACATGGCCCTGAACGG	0.677000													5	61					0	0	1	0	0
PSMB10	5699	broad.mit.edu	37	16	67970346	67970346	+	Silent	SNP	A	A	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:67970346A>T	ENST00000358514.4	-	2	436	c.99T>A	c.(97-99)ccT>ccA	p.P33P		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	33					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		TGCGTGCGTGAGGGACCTTGA	0.637000													6	24					0	0	1	0	0
CELP	0	broad.mit.edu	37	9	135962226	135962226	+	RNA	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:135962226C>T	ENST00000411440.2	+	0	733					NR_001275.2																						CCCTACACTACGGAAAACAGC	0.607000													9	15					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296628	28296628	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:28296628C>T	ENST00000284987.5	-	8	2658	c.2537G>A	c.(2536-2538)cGt>cAt	p.R846H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	846	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AAAGCTATAACGGACATCTAA	0.468000													8	110					0	0	1	0	0
RELT	84957	broad.mit.edu	37	11	73103387	73103387	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:73103387G>A	ENST00000064780.2	+	6	760	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	RELT_ENST00000393580.2_Missense_Mutation_p.A167T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	167						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CGCGGTCATCGCCATCGTCCC	0.677000													4	30					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46007981	46007981	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:46007981G>A	ENST00000296137.2	-	8	3050	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	FYCO1_ENST00000535325.1_Missense_Mutation_p.R949C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	949					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTACTTGGCGCTCCAGGCCC	0.652000													4	93					0	0	1	0	0
COX7B	1349	broad.mit.edu	37	X	77160727	77160727	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:77160727G>C	ENST00000481445.1	+	3	328	c.212G>C	c.(211-213)aGa>aCa	p.R71T		NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	71					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CCTGTTGGCAGAGTTACCCCA	0.398000													4	119					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156555850	156555850	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:156555850G>A	ENST00000353442.4	-	7	807	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	LMBR1_ENST00000540390.1_Missense_Mutation_p.P170S|LMBR1_ENST00000359422.4_Missense_Mutation_p.P39S|LMBR1_ENST00000354505.4_Missense_Mutation_p.P191S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	191						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TATAAATAGGGTAGATAGAAC	0.279000													4	48					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707378	50707378	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:50707378C>T	ENST00000330943.4	-	4	1061	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGTGGGCCTCCGGAGCTGGCT	0.667000													30	79					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101343193	101343193	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:101343193T>C	ENST00000370114.3	-	3	1708	c.272A>G	c.(271-273)aAt>aGt	p.N91S	EXTL2_ENST00000535414.1_Missense_Mutation_p.N78S|EXTL2_ENST00000370113.3_Missense_Mutation_p.N91S	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	91					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTGTGCAGATTTGGTACAGC	0.418000													4	136					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281245	142281245	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:142281245C>T	ENST00000350721.4	-	4	1120	c.999G>A	c.(997-999)gtG>gtA	p.V333V	ATR_ENST00000383101.3_Silent_p.V333V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	333					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCCGCATGAGCACACCGTCTT	0.388000								Other conserved DNA damage response genes					4	93					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10921985	10921985	+	Silent	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:10921985T>C	ENST00000298232.7	-	17	1351	c.984A>G	c.(982-984)ggA>ggG	p.G328G	TPTE_ENST00000361285.4_Silent_p.G346G|TPTE_ENST00000342420.5_Silent_p.G308G|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	Phosphatase tensin-type.				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)		AAACCATAGTTCCTGTTCTAT	0.328000													7	84					0	0	1	0	0
ERAS	3266	broad.mit.edu	37	X	48687675	48687675	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48687675G>A	ENST00000338270.1	+	1	393	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	48					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						TGTGGTGGTGGGCGCCAGTGG	0.642000													6	27					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50910398	50910398	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:50910398G>A	ENST00000440232.2	+	13	1706	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	POLD1_ENST00000599857.1_Silent_p.Q551Q|POLD1_ENST00000595904.1_Silent_p.Q551Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	551					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTCGTGGCCAGCAGGTCAAGG	0.662000								DNA polymerases (catalytic subunits)					11	45					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155176790	155176790	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:155176790G>A	ENST00000357232.3	-	21	5456	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1819	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAATCAGGCCGTTCAAACCAC	0.408000													4	53					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283076	152283076	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:152283076C>T	ENST00000368799.1	-	3	4321	c.4286G>A	c.(4285-4287)gGc>gAc	p.G1429D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1429	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGACTGGCCACGTGCGGA	0.557000									Ichthyosis				5	298					0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62500710	62500710	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:62500710C>T	ENST00000217121.5	+	2	153	c.81C>T	c.(79-81)gtC>gtT	p.V27V	TPD52L2_ENST00000348257.5_Silent_p.V27V|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000346249.4_Silent_p.V27V|TPD52L2_ENST00000351424.4_Silent_p.V27V|TPD52L2_ENST00000352482.4_Silent_p.V27V|TPD52L2_ENST00000358548.4_Silent_p.V27V	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	27					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ATGTTCCTGTCGACACAGGTG	0.532000													4	109					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53849149	53849149	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr12:53849149G>A	ENST00000603815.1	+	3	438	c.88G>A	c.(88-90)Gga>Aga	p.G30R	PCBP2_ENST00000359282.5_Missense_Mutation_p.G30R|PCBP2_ENST00000437231.1_Missense_Mutation_p.G30R|PCBP2_ENST00000541275.1_Missense_Mutation_p.G30R|PCBP2_ENST00000552296.2_Missense_Mutation_p.G30R|PCBP2_ENST00000552819.1_Missense_Mutation_p.G30R|PCBP2_ENST00000548933.1_Missense_Mutation_p.G30R|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Missense_Mutation_p.G30R|PCBP2_ENST00000447282.1_Missense_Mutation_p.G30R|PCBP2_ENST00000439930.3_Missense_Mutation_p.G30R|PCBP2_ENST00000549863.1_Missense_Mutation_p.G30R|PCBP2_ENST00000359462.5_Missense_Mutation_p.G30R|PCBP2_ENST00000546463.1_Missense_Mutation_p.G30R	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	30	KH 1.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAGTATCATCGGAAAGGTAAG	0.338000													18	37					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140728828	140728828	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:140728828C>T	ENST00000460843.1	+	26	3595	c.3568C>T	c.(3568-3570)Cgg>Tgg	p.R1190W		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1190	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CATCGACGCGCGGTTCTACGG	0.682000													12	64					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667524	72667524	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:72667524G>A	ENST00000373514.2	+	1	435	c.435G>A	c.(433-435)aaG>aaA	p.K145K		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCGCCGCCAAGGCCAGTTCCC	0.637000													9	28					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15472604	15472604	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:15472604A>C	ENST00000269701.2	-	11	1392	c.1332T>G	c.(1330-1332)atT>atG	p.I444M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	444					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCCGCTTCTCAATTTTCTTAT	0.448000													15	78					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16537944	16537944	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:16537944C>T	ENST00000311331.7	-	4	371	c.280_splice	c.e4+1	p.G94_splice	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	94	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTATCCTTACCCAGGGAGACC	0.433000													21	69					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99137191	99137191	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:99137191delT	ENST00000074304.5	+	4	541	c.148delT	c.(148-150)tafs	p.L50fs	INPP4A_ENST00000409463.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409540.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409016.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000523221.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.L50fs	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	50	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGAATTTAGCTTAGGTAGGTA	0.303													2	4	---	---	---	---					
PTMA	5757	broad.mit.edu	37	2	232574924	232574924	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:232574924delG	ENST00000410064.1	+	1	434	c.36delG	c.(34-36)gtfs	p.V12fs	PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409683.1_Intron|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000409115.3_Intron|PTMA_ENST00000341369.7_Intron			P06454	PTMA_HUMAN	prothymosin, alpha	0					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGCGGCAGTGGGGCGTCGAG	0.721													2	4	---	---	---	---					
SEMA3B	7869	broad.mit.edu	37	3	50308562	50308563	+	RNA	INS	-	-	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:50308562_50308563insG	ENST00000418948.1	+	0	728_729							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGGATGGCAAGGGGAAGAGTC	0.604													2	4	---	---	---	---					
TRBV29-1	0	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													4	8	---	---	---	---					
KCNMA1	3778	broad.mit.edu	37	10	78729785	78729786	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr10:78729785_78729786insT	ENST00000286627.5	-	19	3084_3085	c.2132_2133insA	c.(2131-2133)acafs	p.T711fs	KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.T711fs|KCNMA1_ENST00000286628.8_Frame_Shift_Ins_p.T769fs|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.T769fs|KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.T772fs|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.T773fs|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.T711fs|KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.T711fs	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	706					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.K711fs*17(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CATTCCGTTGCTTTTTTTTTGG	0.505													7	124	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118344185	118344186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:118344185_118344186insC	ENST00000534358.1	+	3	2334_2335	c.2311_2312insC	c.(2311-2313)cccfs	p.P771fs	KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.P771fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.P771fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTCACCTCTCACCCCCCCGTCT	0.450													7	194	---	---	---	---					
SNORD3B-2	0	broad.mit.edu	37	17	18967234	18967234	+	RNA	DEL	C	C	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:18967234delC	ENST00000364880.1	-	0	215																											GAAGGAAAAaccactcagacc	0.537													21	215	---	---	---	---					
NKX2-2	4821	broad.mit.edu	37	20	21492758	21492759	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:21492758_21492759delCC	ENST00000377142.4	-	2	980_981	c.624_625delGG	c.(622-627)tttcfs	p.LV208fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	208					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGTCCCTGACCAAGACGGGCA	0.668													11	35	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76909650	76909659	+	Frame_Shift_Del	DEL	AGCTCCGCTG	AGCTCCGCTG	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:76909650_76909659delAGCTCCGCTG	ENST00000373344.5	-	14	4460_4469	c.4246_4255delCAGCGGAGCT	c.(4246-4257)atfs	p.QRSY1416fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QRSY1378fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1416					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.R1417L(2)|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)	TTCTGTTTATAGCTCCGCTGATTTTCTTCC	0.314			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	115	---	---	---	---					
