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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CAPN9	10753	broad.mit.edu	37	1	230903289	230903289	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr1:230903289T>C	uc001htz.1	+	5	652	c.539T>C	c.(538-540)CTA>CCA	p.L180P	CAPN9_uc009xfg.1_Missense_Mutation_p.L117P|CAPN9_uc001hua.1_Missense_Mutation_p.L180P	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	180	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CCTTGCAGGCTAAATGGGAGC	0.567000													3	95					0	0	0.009096	0	0
ACP2	53	broad.mit.edu	37	11	47264838	47264838	+	Silent	SNP	G	A	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr11:47264838G>A	uc001nei.2	-	8	924	c.807C>T	c.(805-807)ACC>ACT	p.T269T	ACP2_uc010rhe.1_Silent_p.T241T|ACP2_uc009ylj.2_Silent_p.T197T|ACP2_uc010rhf.1_Silent_p.T237T|ACP2_uc010rhg.1_Silent_p.T206T|ACP2_uc010rhh.1_Silent_p.T82T|ACP2_uc010rhi.1_Silent_p.T82T|ACP2_uc009ylk.2_Silent_p.T236T	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1	269	Lumenal (Potential).					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						TCGCCATTAGGGTCAGGTTCT	0.562000													6	62					0	0	0.029380	0	0
DIXDC1	85458	broad.mit.edu	37	11	111865764	111865764	+	Missense_Mutation	SNP	A	T	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr11:111865764A>T	uc001pml.2	+	16	1756	c.1459A>T	c.(1459-1461)AAC>TAC	p.N487Y	DIXDC1_uc001pmm.2_Missense_Mutation_p.N276Y|DIXDC1_uc001pmn.2_Missense_Mutation_p.N193Y|DIXDC1_uc010rwq.1_Missense_Mutation_p.N152Y	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	487					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAACAGTCACAACTCTCAAAG	0.413000													79	152					0	0	0.048971	0	0
KIF23	9493	broad.mit.edu	37	15	69714351	69714351	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr15:69714351G>A	uc002asb.2	+	5	454	c.337G>A	c.(337-339)GTG>ATG	p.V113M	KIF23_uc002asc.2_Missense_Mutation_p.V113M|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_5'Flank|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	113	ATP (By similarity).|Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						TACATATGGTGTGACGGGAAG	0.408000													6	51					0	0	0.021553	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857957	9857957	+	Silent	SNP	C	T	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr16:9857957C>T	uc002czo.3	-	13	3992	c.3444G>A	c.(3442-3444)CCG>CCA	p.P1148P	GRIN2A_uc010uym.1_Silent_p.P1148P|GRIN2A_uc010uyn.1_Silent_p.P991P|GRIN2A_uc002czr.3_Silent_p.P1148P	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1148	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTAGGGGTCCGGGAAGTCCA	0.527000													5	213					0	0	0.014758	0	0
SLC47A2	146802	broad.mit.edu	37	17	19606453	19606453	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:19606453A>G	uc002gwe.3	-	12	1329	c.1154T>C	c.(1153-1155)CTG>CCG	p.L385P	SLC47A2_uc002gwg.3_Missense_Mutation_p.L349P|SLC47A2_uc002gwf.3_Missense_Mutation_p.L363P|SLC47A2_uc002gwh.3_Intron|SLC47A2_uc002gwi.2_Intron|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	385	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GATGCTTATCAGGGTGCCCAG	0.483000													3	48					0	0	0.009096	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253956	39253956	+	Silent	SNP	G	A	A	rs139720993	by1000genomes	TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:39253956G>A	uc010wfo.1	-	1	420	c.381C>T	c.(379-381)CCC>CCT	p.P127P		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4.8	127	21.|25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament					0						tgctgcagctggggcggcagc	0.104000													5	25					0	0	0.069234	0	0
SGCA	6442	broad.mit.edu	37	17	48246530	48246530	+	Missense_Mutation	SNP	G	A	A	rs138254713	by1000genomes	TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:48246530G>A	uc002iqi.2	+	6	698	c.662G>A	c.(661-663)CGC>CAC	p.R221H	SGCA_uc010wmh.1_Missense_Mutation_p.R119H|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	221	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						AGCCACGCCCGCTGTGCCCAG	0.577000											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	55					0	0	0.039052	0	0
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr18:14513734C>T	uc010dln.2	-	10	1914	c.1460G>A	c.(1459-1461)GGA>GAA	p.G487E	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	487										skin(3)	3						TTGTGATATTCCAGTGTTCTG	0.323000													4	98					0	0	0.014758	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14843023	14843023	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr18:14843023C>G	uc010dlo.2	+	33	2932	c.2752C>G	c.(2752-2754)CCT>GCT	p.P918A	ANKRD30B_uc010xal.1_Missense_Mutation_p.P60A	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1003										ovary(1)|skin(1)	2						ACCCGTTTAGCCTGCCACTGA	0.289000													3	21					0	0	0.004672	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996739	19996739	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr18:19996739G>A	uc002ktv.1	-	1	1140	c.1036C>T	c.(1036-1038)CAG>TAG	p.Q346*		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	346	Potential.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGAAGCTTCTGATTCTCACTT	0.323000													4	90					0	0	0.021553	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998072	72998072	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr18:72998072G>A	uc002lly.2	+	2	1138	c.575G>A	c.(574-576)GGC>GAC	p.G192D		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGCTCTACGGCTCCGTCTTC	0.617000													5	50					0	0	0.029380	0	0
S1PR5	53637	broad.mit.edu	37	19	10624526	10624526	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr19:10624526C>T	uc002mot.1	-	2	1219	c.1162G>A	c.(1162-1164)GCC>ACC	p.A388T	S1PR5_uc002mou.1_Missense_Mutation_p.A388T	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	388	Cytoplasmic (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						AGAGTCCGGGCGGCTGTGGGT	0.612000													12	91					0	0	0.080935	0	0
ANTXR1	84168	broad.mit.edu	37	2	69329991	69329991	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr2:69329991G>A	uc002sfg.2	+	10	1077	c.721G>A	c.(721-723)GTG>ATG	p.V241M	ANTXR1_uc002sfe.2_Missense_Mutation_p.V241M|ANTXR1_uc002sff.2_Missense_Mutation_p.V241M|ANTXR1_uc002sfd.2_Missense_Mutation_p.V241M|hsa-mir-3126|MI0014143_5'Flank	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	241	Extracellular (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						TCAAGTTGTCGTGAGAGGAAA	0.473000									Familial_Infantile_Hemangioma				25	359					0	0	0.030593	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		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(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								23	53					0	0	0.083992	0	0
AQP12B	653437	broad.mit.edu	37	2	241622318	241622318	+	Splice_Site	SNP	C	T	T	rs139037294	by1000genomes	TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr2:241622318C>T	uc010fzj.2	-	1	1	c.-62_splice	c.e1-1		AQP12B_uc002vzt.2_RNA	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	aquaporin 12B							integral to membrane	transporter activity				0		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		AGGAGCTGGCCGGTTCCCACA	0.672000													3	36					0	0	0.009096	0	0
PLCB1	23236	broad.mit.edu	37	20	8665706	8665706	+	Silent	SNP	G	A	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:8665706G>A	uc002wnb.2	+	10	993	c.990G>A	c.(988-990)TCG>TCA	p.S330S	PLCB1_uc010zrb.1_Silent_p.S229S|PLCB1_uc002wna.2_Silent_p.S330S|PLCB1_uc002wnc.1_Silent_p.S229S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	330	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TTAATTCCTCGCACAACACCT	0.418000													12	156					0	0	0.105934	0	0
BPI	671	broad.mit.edu	37	20	36953197	36953197	+	Nonsense_Mutation	SNP	C	T	T	rs150749170		TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:36953197C>T	uc002xib.2	+	9	1029	c.967C>T	c.(967-969)CGA>TGA	p.R323*		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	323					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				GTCCAAATTTCGACTGACAAC	0.507000													6	103					0	0	0.029380	0	0
C20orf20	55257	broad.mit.edu	37	20	61428541	61428541	+	Silent	SNP	C	G	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:61428541C>G	uc002ydi.2	+	2	299	c.228C>G	c.(226-228)GTC>GTG	p.V76V		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	MRG-binding protein	76					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex					0	Breast(26;3.65e-08)					CATCCAAGGTCATCTGGGACC	0.632000													23	43					0	0	0.069288	0	0
BOD1L	259282	broad.mit.edu	37	4	13604944	13604944	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr4:13604944C>T	uc003gmz.1	-	10	3697	c.3580G>A	c.(3580-3582)GAA>AAA	p.E1194K	BOD1L_uc010idr.1_Missense_Mutation_p.E531K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1194							DNA binding			ovary(5)|breast(1)	6						GCATGCTTTTCAGAATTACTA	0.428000													9	295					0	0	0.058154	0	0
ZNF827	152485	broad.mit.edu	37	4	146813423	146813423	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr4:146813423C>T	uc003ikn.2	-	3	1286	c.1238G>A	c.(1237-1239)CGC>CAC	p.R413H	ZNF827_uc003ikm.2_Missense_Mutation_p.R413H|ZNF827_uc010iox.2_Missense_Mutation_p.R63H	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	413	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					ATTGTCCTTGCGAGCACACCG	0.512000													25	82					0	0	0.030593	0	0
SMAD5	4090	broad.mit.edu	37	5	135510116	135510116	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:135510116A>G	uc003lbj.1	+	8	1493	c.1049A>G	c.(1048-1050)GAC>GGC	p.D350G	SMAD5_uc003lbk.1_Missense_Mutation_p.D350G|SMAD5_uc003lbl.1_Missense_Mutation_p.D350G	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	SMAD family member 5	350	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCTCAGTGACAGCAGCATA	0.418000													6	137					0	0	0.021553	0	0
TRIM7	81786	broad.mit.edu	37	5	180622600	180622600	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:180622600C>T	uc003mmz.1	-	7	1169	c.1102G>A	c.(1102-1104)GAG>AAG	p.E368K	TRIM7_uc003mmv.1_Missense_Mutation_p.E186K|TRIM7_uc003mmw.1_Missense_Mutation_p.E160K|TRIM7_uc003mmx.1_Missense_Mutation_p.E160K|TRIM7_uc003mmy.1_Missense_Mutation_p.E160K	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	368	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGGGCCCGCTCGCCGAGGCGC	0.667000													20	76					0	0	0.049695	0	0
OR2H2	7932	broad.mit.edu	37	6	29556539	29556539	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:29556539G>C	uc003nmr.1	+	1	857	c.818G>C	c.(817-819)GGT>GCT	p.G273A	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	273	Helical; Name=7; (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAGTTCTTTGGTCTCTTCTAT	0.512000													4	75					0	0	0.009096	0	0
MDC1	9656	broad.mit.edu	37	6	30679448	30679448	+	Silent	SNP	C	T	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:30679448C>T	uc003nrg.3	-	6	2564	c.2124G>A	c.(2122-2124)CTG>CTA	p.L708L	MDC1_uc003nrf.3_Silent_p.L362L|MDC1_uc011dmp.1_Silent_p.L580L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	708				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CCTCACCTTCCAGGCCCTGAT	0.468000								Other_conserved_DNA_damage_response_genes					6	131					0	0	0.047766	0	0
MET	4233	broad.mit.edu	37	7	116397529	116397529	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr7:116397529T>C	uc003vij.2	+	7	2088	c.1901T>C	c.(1900-1902)TTC>TCC	p.F634S	MET_uc010lkh.2_Missense_Mutation_p.F634S|MET_uc011knd.1_Missense_Mutation_p.F634S|MET_uc011kne.1_Missense_Mutation_p.F606S|MET_uc011knf.1_Missense_Mutation_p.F634S|MET_uc011kng.1_Missense_Mutation_p.F634S|MET_uc011knh.1_Missense_Mutation_p.F634S|MET_uc011kni.1_Missense_Mutation_p.F634S|MET_uc011knj.1_Missense_Mutation_p.F204S	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	634	Extracellular (Potential).|IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATAAGCATTTCAATATGTCC	0.343000			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				48	58					0	0	0.048971	0	0
MLL3	58508	broad.mit.edu	37	7	151945175	151945175	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr7:151945175A>G	uc003wla.2	-	14	2563	c.2344T>C	c.(2344-2346)TCT>CCT	p.S782P		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	782					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGGAGGAAGACACATCTGCC	0.428000			N		medulloblastoma								10	417					0	0	0.062417	0	0
SULF1	23213	broad.mit.edu	37	8	70513977	70513977	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr8:70513977G>C	uc010lza.1	+	10	1691	c.974G>C	c.(973-975)GGA>GCA	p.G325A	SULF1_uc003xyd.2_Missense_Mutation_p.G325A|SULF1_uc003xye.2_Missense_Mutation_p.G325A|SULF1_uc003xyf.2_Missense_Mutation_p.G325A|SULF1_uc003xyg.2_Missense_Mutation_p.G325A|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	325					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGGCAGTTTGGACTGGTCAAG	0.448000													9	258					0	0	0.047766	0	0
CA1	759	broad.mit.edu	37	8	86244738	86244738	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr8:86244738A>G	uc003ydh.2	-	7	694	c.494T>C	c.(493-495)CTC>CCC	p.L165P	CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Missense_Mutation_p.L165P|CA1_uc003ydi.2_Missense_Mutation_p.L165P	NM_001738	NP_001729	P00915	CAH1_HUMAN	carbonic anhydrase I	165					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	AATTGCTTGGAGGGCATCAAG	0.328000													28	31					0	0	0.064281	0	0
ATRX	546	broad.mit.edu	37	X	76912104	76912104	+	Nonsense_Mutation	SNP	G	C	C			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chrX:76912104G>C	uc004ecp.3	-	13	4392	c.4160C>G	c.(4159-4161)TCA>TGA	p.S1387*	ATRX_uc004ecq.3_Nonsense_Mutation_p.S1349*|ATRX_uc004eco.3_Nonsense_Mutation_p.S1172*|ATRX_uc004ecr.2_Nonsense_Mutation_p.S1319*	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1387					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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ACTAACTCCTGATTCCTGAAA	0.279000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						23	14					0	0	0.091800	0	0
ATRX	546	broad.mit.edu	37	X	76938860	76938860	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chrX:76938860C>A	uc004ecp.3	-	9	2120	c.1888G>T	c.(1888-1890)GGA>TGA	p.G630*	ATRX_uc004ecq.3_Nonsense_Mutation_p.G592*|ATRX_uc004eco.3_Nonsense_Mutation_p.G415*|ATRX_uc004ecr.2_Nonsense_Mutation_p.G562*|ATRX_uc010nlx.1_Nonsense_Mutation_p.G601*|ATRX_uc010nly.1_Nonsense_Mutation_p.G575*	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	630					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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTTTCCTGTCCAAGTCCACAT	0.388000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						55	252					6.60958e-23	7.6532e-23	0.048971	1	0
CTRL	1506	broad.mit.edu	37	16	67963919	67963919	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr16:67963919delT	uc002euw.2	-	7	723	c.713delA	c.(712-714)AACfs	p.N238fs		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	238	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552													8	268	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579346	7579348	+	In_Frame_Del	DEL	AAG	-	-			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:7579346_7579348delAAG	uc002gim.2	-	4	533_535	c.339_341delCTT	c.(337-342)TTCTTG>TTG	p.F113del	TP53_uc002gig.1_In_Frame_Del_p.F113del|TP53_uc002gih.2_In_Frame_Del_p.F113del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_In_Frame_Del_p.F113del|TP53_uc010cni.1_In_Frame_Del_p.F113del|TP53_uc002gij.2_In_Frame_Del_p.F113del|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_In_Frame_Del_p.F74del|TP53_uc010cnk.1_In_Frame_Del_p.F128del	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	113	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).		F -> L (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> S (in sporadic cancers; somatic mutation).|F -> I (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F113C(8)|p.0?(7)|p.F113S(4)|p.F113V(4)|p.F113L(3)|p.G59fs*23(3)|p.F113del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.L114*(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.L114fs*30(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CCCAGAATGCAAGAAGCCCAGAC	0.601		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			31	79	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579589	7579590	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:7579589_7579590insA	uc002gim.2	-	4	291_292	c.97_98insT	c.(97-99)TCCfs	p.S33fs	TP53_uc002gig.1_Frame_Shift_Ins_p.S33fs|TP53_uc002gih.2_Frame_Shift_Ins_p.S33fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.S33fs|TP53_uc010cni.1_Frame_Shift_Ins_p.S33fs|TP53_uc002gij.2_Frame_Shift_Ins_p.S33fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Ins_p.S48fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	33	Transcription activation (acidic).|Interaction with HRMT1L2.		S -> T (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.L35fs*9(1)|p.?(1)|p.S33fs*23(1)|p.S33fs*11(1)|p.S33fs*10(1)|p.S33T(1)|p.P13fs*18(1)|p.S33fs*6(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CGGCAAGGGGGACTGTAGATGG	0.381		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			132	228	---	---	---	---					
KATNA1	11104	broad.mit.edu	37	6	149959574	149959574	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08									Somatic	Phase_I	Capture				Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:149959574delT	uc003qmr.1	-	1	155	c.110delA	c.(109-111)AACfs	p.N37fs	KATNA1_uc003qms.2_Frame_Shift_Del_p.N37fs|KATNA1_uc003qmt.2_Frame_Shift_Del_p.N37fs|KATNA1_uc011eed.1_Frame_Shift_Del_p.N37fs	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	37	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CAGATACTTGTTCATTTGGTC	0.403													78	197	---	---	---	---					
