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
AGMO	392636	broad.mit.edu	37	7	15458208	15458208	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr7:15458208A>C	ENST00000342526.3	-	5	753	c.584T>G	c.(583-585)cTt>cGt	p.L195R		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	195					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAATTGGTAAAGAAGATTGAA	0.333000													7	19					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77266953	77266953	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:77266953C>T	ENST00000341514.6	+	9	2109	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	ATP7A_ENST00000343533.5_Missense_Mutation_p.R652W|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	652					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAGATGGAGACGGTCTTTTCT	0.343000													9	66					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196723412	196723412	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:196723412A>G	ENST00000312428.6	-	43	7953	c.7853T>C	c.(7852-7854)gTt>gCt	p.V2618A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2618	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCTAGCAACTTTTAATTG	0.378000													6	84					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098450	144098450	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr7:144098450G>T	ENST00000467773.1	-	4	532	c.533C>A	c.(532-534)cCc>cAc	p.P178H	NOBOX_ENST00000483238.1_Missense_Mutation_p.P178H|NOBOX_ENST00000223140.5_Missense_Mutation_p.P93H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	178					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTGAGTCTGGGGCCTGGAGCG	0.617000													8	8					0.00307968	0.00316767	1	1	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(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)		AGGACAGGCACAAACACGCAC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	2					4.35082e-09	4.89467e-09	1	1	0
PRSS12	8492	broad.mit.edu	37	4	119216997	119216997	+	Missense_Mutation	SNP	C	C	G	rs145983533		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:119216997C>G	ENST00000296498.3	-	10	2134	c.1852G>C	c.(1852-1854)Gtt>Ctt	p.V618L	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	618						membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGCCACAAACAGATGAGAGG	0.403000													32	47					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411755	43411755	+	Missense_Mutation	SNP	T	T	C	rs141394564		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr21:43411755T>C	ENST00000310826.5	-	3	2633	c.2450A>G	c.(2449-2451)aAt>aGt	p.N817S	ZBTB21_ENST00000398499.1_Missense_Mutation_p.N817S|ZBTB21_ENST00000398511.3_Missense_Mutation_p.N817S|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398505.3_Missense_Mutation_p.N616S	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CACATCACCATTGTGGTCCAA	0.483000													5	78					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46736447	46736447	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:46736447A>G	ENST00000371975.4	+	10	1833	c.1159A>G	c.(1159-1161)Att>Gtt	p.I387V	RAD54L_ENST00000442598.1_Missense_Mutation_p.I387V	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	387					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GCTCACCAGCATTGTGAATAG	0.512000								Direct reversal of damage;Homologous recombination					3	54					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16952974	16952974	+	RNA	SNP	C	C	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:16952974C>G	ENST00000412962.1	-	0	642																											AGAGCTCGAGCTCCATGCGGC	0.622000													6	27					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522482	97522482	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr9:97522482T>A	ENST00000375315.2	+	1	417	c.417T>A	c.(415-417)agT>agA	p.S139R	C9orf3_ENST00000297979.5_Missense_Mutation_p.S139R|C9orf3_ENST00000277198.2_Missense_Mutation_p.S139R	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	139					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ATCATGGGAGTGAGGATTTTT	0.423000													8	242					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								13	43					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98943201	98943201	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:98943201C>T	ENST00000254898.5	+	3	394	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	MATN2_ENST00000520016.1_Missense_Mutation_p.R55W|MATN2_ENST00000521689.1_Missense_Mutation_p.R55W|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R55W	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	55						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGAGAACAAGCGGGCAGACCT	0.493000													4	19					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	51					0.004672	0.004672	1	1	0
STAR	6770	broad.mit.edu	37	8	38003533	38003533	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:38003533C>G	ENST00000276449.4	-	5	1044	c.598G>C	c.(598-600)Gct>Cct	p.A200P		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	200	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCCATGCCAGCCAGCACACAG	0.622000													11	31					0	0	1	0	0
TCEAL1	9338	broad.mit.edu	37	X	102885053	102885053	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:102885053A>G	ENST00000372625.3	+	3	373	c.209A>G	c.(208-210)cAg>cGg	p.Q70R	TCEAL1_ENST00000372626.3_Missense_Mutation_p.Q70R|TCEAL1_ENST00000372624.3_Missense_Mutation_p.Q70R|TCEAL1_ENST00000469820.1_3'UTR	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	68	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCCCTCCGCAGGAGGGTCTT	0.572000													26	7					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246183	46246183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr12:46246183C>A	ENST00000334344.6	+	15	4449	c.4277C>A	c.(4276-4278)tCa>tAa	p.S1426*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1277*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.S1036*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Nonsense_Mutation_p.S34*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1426					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTGGGTGGTTCATCTGTGAGC	0.403000			"""N, S, F"""		hepatocellular carcinoma								8	96					1.06961e-07	1.16685e-07	1	1	0
PTX3	5806	broad.mit.edu	37	3	157154853	157154853	+	Splice_Site	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr3:157154853G>A	ENST00000295927.3	+	1	275		c.e1+1		VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long						inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTGAGGACCGTAAGTTCACT	0.423000													4	158					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	394869	394869	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr6:394869G>T	ENST00000380956.4	+	3	391	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	89					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CGACAAGCCGGACCCTCCCAC	0.512000			T	IGH@	MM								27	76					2.0833e-19	2.41932e-19	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198265653	198265653	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:198265653T>A	ENST00000335508.5	-	18	2595	c.2504A>T	c.(2503-2505)gAt>gTt	p.D835V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	835					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CACAGTAGTATCAACTAACTA	0.343000			Mis		myelodysplastic syndrome								14	26					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46982425	46982425	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr6:46982425G>C	ENST00000371253.2	-	9	1134	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.L110V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTGTTCAGTTCTTCAAGC	0.522000													17	31					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47888911	47888911	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr17:47888911G>A	ENST00000503935.2	+	7	1395	c.359G>A	c.(358-360)aGc>aAc	p.S120N	KAT7_ENST00000454930.2_Missense_Mutation_p.S137N|KAT7_ENST00000435742.2_Missense_Mutation_p.S90N|KAT7_ENST00000424009.2_Missense_Mutation_p.S246N|KAT7_ENST00000509773.1_Missense_Mutation_p.S166N|KAT7_ENST00000510819.1_Missense_Mutation_p.S107N|KAT7_ENST00000259021.4_Missense_Mutation_p.S276N			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	276					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TCTGGACTGAGCAAAGAACAG	0.378000													9	8					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590192	125590192	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:125590192T>C	ENST00000504087.1	-	4	5277	c.4240A>G	c.(4240-4242)Att>Gtt	p.I1414V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.I1235V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1414										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAACCTTCAATCTGAAGCTTC	0.388000													25	44					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223451	44223451	+	Silent	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr19:44223451G>A	ENST00000244314.5	+	2	940	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	247						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCCTGCTGTCGCTCCCCGACA	0.657000													6	11					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128621196	128621196	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:128621196A>G	ENST00000335251.5	+	9	1584	c.1481A>G	c.(1480-1482)gAg>gGg	p.E494G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	494										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGTGACTTGGAGGCTGCAGAT	0.303000													35	49					0	0	1	0	0
SLC12A3	0	broad.mit.edu	37	16	56906653	56906653	+	Silent	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr16:56906653G>A	ENST00000438926.2	+	8	1079	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	SLC12A3_ENST00000563236.1_Silent_p.S350S|SLC12A3_ENST00000566786.1_Silent_p.S349S|SLC12A3_ENST00000262502.5_Silent_p.S349S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	350					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCTTCCCCTCGGCCACAGGCA	0.567000													20	24					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266089	1266089	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr11:1266089C>G	ENST00000447027.1	+	31	8046	c.7988C>G	c.(7987-7989)aCa>aGa	p.T2663R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2660R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2660	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCCCACAGTGCTGACC	0.617000													6	13					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228684	57228684	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:57228684C>T	ENST00000396721.2	-	2	353	c.223G>A	c.(223-225)Gag>Aag	p.E75K	SDR16C5_ENST00000303749.3_Missense_Mutation_p.E75K|SDR16C5_ENST00000522671.1_Missense_Mutation_p.E75K			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	75					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.E75K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCATTCCCCTCCTTATTGATA	0.507000													5	85					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25228807	25228807	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:25228807C>A	ENST00000399916.1	-	6	1534	c.1096G>T	c.(1096-1098)Ggg>Tgg	p.G366W	RUNX3_ENST00000338888.3_Missense_Mutation_p.G366W|RUNX3_ENST00000308873.6_Missense_Mutation_p.G352W|RUNX3_ENST00000540420.1_Missense_Mutation_p.G259W	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	352	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGGTCGCCCCCACTGCTGCTG	0.682000													8	10					3.09899e-07	3.28128e-07	1	1	0
SETD3	84193	broad.mit.edu	37	14	99865292	99865292	+	Silent	SNP	T	T	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr14:99865292T>C	ENST00000331768.5	-	13	1668	c.1509A>G	c.(1507-1509)gaA>gaG	p.E503E		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	503					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGTTACTCTCTTCATATTTGG	0.527000													11	175					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142238509	142238509	+	Splice_Site	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr3:142238509A>G	ENST00000350721.4	-	24	4504		c.e24+1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related						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						aaGCCTACATACCTGGTATTT	0.398000								Other conserved DNA damage response genes					12	65					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764557	33764557	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr20:33764557T>C	ENST00000216968.4	+	4	740	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	220					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGTGGGCAGTTTCATCATTGC	0.567000													7	7					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs67156933	byFrequency	TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENST00000331860.3	+	3	313_336	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)del	p.EPGCTKVP95del	SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del|SPRR3_ENST00000295367.4_In_Frame_Del_p.EPGCTKVP95del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													7	26	---	---	---	---					
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)cfs	p.L418fs	FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.530													6	0	---	---	---	---					
LUZP2	338645	broad.mit.edu	37	11	24936024	24936024	+	Frame_Shift_Del	DEL	A	A	-	rs140841896		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr11:24936024delA	ENST00000533227.1	+	7	491	c.204delA	c.(202-204)tcfs	p.S68fs	LUZP2_ENST00000336930.6_Frame_Shift_Del_p.S154fs	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	154						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCTTACAGTCAAAAAAAATCC	0.348													7	53	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939652	76939652	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:76939652delT	ENST00000373344.5	-	9	1310	c.1096delA	c.(1096-1098)tgfs	p.M366fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.M328fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	366					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGGAGTTCATGTTGGCTGTG	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						62	13	---	---	---	---