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
MIPEP	4285	broad.mit.edu	37	13	24444199	24444199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24444199C>T	ENST00000382172.3	-	6	837	c.739G>A	c.(739-741)Gat>Aat	p.D247N		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	247					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATGATATGATCCCCAGCAGAT	0.393000													49	51					0	0	0.870114	0	0
IGF2R	3482	broad.mit.edu	37	6	160501242	160501242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160501242C>T	ENST00000356956.1	+	39	5916	c.5768C>T	c.(5767-5769)gCg>gTg	p.A1923V		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1923	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GAGAGCAGGGCGAAGCTGTGG	0.557000													45	49					0	0	0.853193	0	0
MYO3A	53904	broad.mit.edu	37	10	26359114	26359114	+	Silent	SNP	T	T	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:26359114T>C	ENST00000265944.5	+	13	1411	c.1245T>C	c.(1243-1245)taT>taC	p.Y415Y	MYO3A_ENST00000543632.1_Silent_p.Y415Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	415	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTTAGGATATCAATCTATGA	0.318000													4	65					0	0	0.184627	0	0
GATA3	2625	broad.mit.edu	37	10	8100437	8100437	+	Silent	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:8100437G>A	ENST00000379328.3	+	3	979	c.411G>A	c.(409-411)tcG>tcA	p.S137S	GATA3_ENST00000346208.3_Silent_p.S137S|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	137	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCGGCCTCGTCCTCCTCCT	0.716000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						31	37					0	0	0.779181	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359586	72359586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:72359586C>T	ENST00000001146.2	-	6	1512	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	CYP26B1_ENST00000546307.1_Missense_Mutation_p.G362S|CYP26B1_ENST00000412253.1_Missense_Mutation_p.G246S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	437					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCGGACACCGCCACCGAAC	0.647000													16	15					0	0	0.557998	0	0
SCN1A	6323	broad.mit.edu	37	2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	rs146374754		TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166872165C>T	ENST00000423058.2	-	17	3519	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1168I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1168						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTCCACTACGGGCTGTTCT	0.413000													47	78					0	0	0.870114	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66294278	66294278	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:66294278G>A	ENST00000419755.3	+	13	1528	c.1450_splice	c.e13+1	p.A484_splice	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Splice_Site_p.A350_splice|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Splice_Site_p.A447_splice|BBS1_ENST00000393994.2_Splice_Site_p.A318_splice																							GGCTGGCACCGGTGAGCCTCA	0.622000													6	111					0	0	0.248553	0	0
HELZ	9931	broad.mit.edu	37	17	65105677	65105677	+	Silent	SNP	A	A	G			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:65105677A>G	ENST00000358691.5	-	29	4210	c.4044T>C	c.(4042-4044)gcT>gcC	p.A1348A	HELZ_ENST00000580168.1_Silent_p.A1349A	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTGCGTGGGGAGCAGGAAGGG	0.473000													43	41					0	0	0.859065	0	0
PDK1	5163	broad.mit.edu	37	2	173423525	173423525	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:173423525C>G	ENST00000410055.1	+	2	386	c.286C>G	c.(286-288)Ctc>Gtc	p.L96V	PDK1_ENST00000282077.2_Missense_Mutation_p.L96V|PDK1_ENST00000544863.1_5'UTR|PDK1_ENST00000543905.1_Missense_Mutation_p.L20V|PDK1_ENST00000392571.2_Missense_Mutation_p.L96V	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	96					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AGAAATAAGTCTCCTTCCAGA	0.393000									Autosomal Dominant Polycystic Kidney Disease				32	41					0	0	0.729181	0	0
TRIM28	10155	broad.mit.edu	37	19	59059532	59059532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:59059532G>T	ENST00000253024.5	+	7	1375	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	TRIM28_ENST00000341753.6_Missense_Mutation_p.L280F	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	362	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CAGCCCTTTTGCTTTCTAAGA	0.532000													6	195					0.0293803	0.0306861	0.248553	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69002506	69002506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69002506C>T	ENST00000295381.3	+	2	634	c.215C>T	c.(214-216)gCg>gTg	p.A72V	ARHGAP25_ENST00000544262.1_Missense_Mutation_p.A46V|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A65V|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.A65V|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.A72V|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.A72V|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.A65V	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	72	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCTGAGGGCGCAGCAGCTC	0.592000													4	92					0	0	0.150653	0	0
CLK4	57396	broad.mit.edu	37	5	178039445	178039445	+	Silent	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:178039445C>T	ENST00000316308.4	-	9	1191	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	341	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTCTGTAGTGCCGGGTAGACA	0.408000													3	58					0	0	0.115264	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	46					0	0	0.184627	0	0
PXDNL	137902	broad.mit.edu	37	8	52359639	52359639	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:52359639C>T	ENST00000356297.4	-	12	1550	c.1450G>A	c.(1450-1452)Ggc>Agc	p.G484S	PXDNL_ENST00000543296.1_Missense_Mutation_p.G484S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	484	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCATATTGGCCTTGATCGTGC	0.468000													5	221					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579362A>C	ENST00000420246.2	-	4	457	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V|TP53_ENST00000269305.4_Missense_Mutation_p.F109V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(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)		CCCAGACGGAAACCGTAGCTG	0.612000		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)			54	7					0	0	0.870114	0	0
CAMK1D	57118	broad.mit.edu	37	10	12803041	12803041	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:12803041G>A	ENST00000378847.3	+	4	731	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CAMK1D_ENST00000378845.1_Missense_Mutation_p.V132M	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	132	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CTTGGACGCCGTGTACTATCT	0.577000													12	21					0	0	0.411799	0	0
HNF1B	6928	broad.mit.edu	37	17	36059196	36059196	+	Silent	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:36059196G>A	ENST00000225893.4	-	8	1900	c.1539C>T	c.(1537-1539)taC>taT	p.Y513Y	HNF1B_ENST00000561193.1_Silent_p.Y487Y|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	513					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GCTTGTGTGCGTACACTGGAG	0.532000													6	38					0	0	0.278610	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079238	134079238	+	Silent	SNP	T	T	G			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:134079238T>G	ENST00000514516.1	-	7	1945	c.1767A>C	c.(1765-1767)ccA>ccC	p.P589P	AMOTL2_ENST00000422605.2_Silent_p.P531P|AMOTL2_ENST00000513145.1_Silent_p.P529P|AMOTL2_ENST00000249883.5_Silent_p.P531P	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	531										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCTACCACCTGGGGCACCTG	0.632000													4	10					0	0	0.217242	0	0
CBX5	23468	broad.mit.edu	37	12	54635636	54635636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54635636C>T	ENST00000209875.4	-	5	615	c.479G>A	c.(478-480)tGt>tAt	p.C160Y	CBX5_ENST00000550411.1_Missense_Mutation_p.C160Y|CBX5_ENST00000439541.2_Missense_Mutation_p.C160Y	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	160	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						AATTTGTGGACATTTCACATT	0.398000													45	71					0	0	0.847076	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	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								24	34					0	0	0.624587	0	0
FAM134B	54463	broad.mit.edu	37	5	16475174	16475174	+	Silent	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16475174C>T	ENST00000306320.9	-	9	1256	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM134B_ENST00000399793.2_Silent_p.T249T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	390					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTGCTGATTGCGTCTCTTTGC	0.493000													37	48					0	0	0.796494	0	0
WASH3P	0	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													8	10					0	0	0.278610	0	0
FPGT	8790	broad.mit.edu	37	1	74670899	74670899	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:74670899C>A	ENST00000370898.2	+	4	1205	c.1168C>A	c.(1168-1170)Cca>Aca	p.P390T	FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_Missense_Mutation_p.F117L	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TAGTATCTTTCCAGATATACC	0.388000													11	65					1.58986e-06	1.77913e-06	0.361761	1	0
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Silent_p.S191S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587000													32	66					0	0	0.750413	0	0
CXorf21	80231	broad.mit.edu	37	X	30578233	30578233	+	Silent	SNP	T	T	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:30578233T>C	ENST00000378962.3	-	3	562	c.240A>G	c.(238-240)agA>agG	p.R80R		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	80										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCACTGTGACTCTCTGACTTC	0.453000													6	183					0	0	0.248553	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010046	85010046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:85010046C>T	ENST00000313732.4	-	8	1182	c.830G>A	c.(829-831)gGg>gAg	p.G277E	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G314E	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	277						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						TGAGGGGGGCCCCCCAAAGAC	0.572000													13	20					0	0	0.500413	0	0
HPS1	3257	broad.mit.edu	37	10	100185433	100185433	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:100185433A>C	ENST00000325103.6	-	13	1433	c.1200T>G	c.(1198-1200)gaT>gaG	p.D400E	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.D400E	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	400					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGGAGAAGCCATCCATCAGCT	0.692000									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	23					0	0	0.479597	0	0
HSPG2	3339	broad.mit.edu	37	1	22174482	22174482	+	Silent	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22174482G>A	ENST00000374695.3	-	60	7921	c.7842C>T	c.(7840-7842)atC>atT	p.I2614I	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2614	Ig-like C2-type 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGATGGTGACGATGAGCGAGG	0.662000													6	40					0	0	0.217242	0	0
TAT	6898	broad.mit.edu	37	16	71610262	71610262	+	Silent	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:71610262G>A	ENST00000355962.4	-	2	190	c.57C>T	c.(55-57)gaC>gaT	p.D19D	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	19					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TGACATGCACGTCCAGAATTG	0.522000													5	56					0	0	0.184627	0	0
USP25	29761	broad.mit.edu	37	21	17246819	17246819	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:17246819T>C	ENST00000285681.2	+	23	3238	c.2869T>C	c.(2869-2871)Tca>Cca	p.S957P	USP25_ENST00000400183.2_Missense_Mutation_p.S995P|USP25_ENST00000351097.5_Missense_Mutation_p.S320P|USP25_ENST00000285679.6_Missense_Mutation_p.S925P			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	925					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S925P(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGAATTGATATCACATTATAG	0.328000													30	162					0	0	0.750413	0	0
LGI4	163175	broad.mit.edu	37	19	35616158	35616158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35616158G>A	ENST00000310123.3	-	9	2072	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	518						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AAAGCAAGCAGCAAAGAGGAA	0.647000													3	36					0	0	0.115264	0	0
CHDC2	286464	broad.mit.edu	37	X	36091355	36091355	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:36091355C>A	ENST00000378660.1	+	4	478	c.290C>A	c.(289-291)tCt>tAt	p.S97Y	CHDC2_ENST00000313548.4_Missense_Mutation_p.S97Y					calponin homology domain containing 2																		CAATTCCTTTCTCTTGAGGAA	0.433000													27	63					3.73988e-18	4.28718e-18	0.706142	1	0
TBC1D21	161514	broad.mit.edu	37	15	74178445	74178445	+	Silent	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74178445C>T	ENST00000300504.2	+	7	689	c.606C>T	c.(604-606)ggC>ggT	p.G202G	TBC1D21_ENST00000535547.2_Silent_p.G166G|TBC1D21_ENST00000562056.1_Silent_p.G165G	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	202	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TCAACATTGGCGTGGCCAAGA	0.572000													3	41					0	0	0.115264	0	0
ACACA	31	broad.mit.edu	37	17	35640173	35640173	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:35640173T>C	ENST00000353139.5	-	5	1086	c.605A>G	c.(604-606)aAt>aGt	p.N202S	ACACA_ENST00000394406.2_Missense_Mutation_p.N165S|ACACA_ENST00000360679.3_Missense_Mutation_p.N107S|ACACA_ENST00000335166.5_Missense_Mutation_p.N87S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	165	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCACCTGCATTGGCTTTAAG	0.408000													14	37					0	0	0.479597	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667035	100667035	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100667035G>T	ENST00000316594.5	+	2	137	c.59G>T	c.(58-60)tGg>tTg	p.W20L	RPL36A-HNRNPH2_ENST00000409170.3_3'UTR	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	20	RRM 1.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGCCTACCCTGGTCCTGCTCA	0.527000													5	90					0.014758	0.0157642	0.184627	1	0
RP11-544M22.1	0	broad.mit.edu	37	1	160905975	160905975	+	RNA	DEL	T	T	-			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:160905975delT	ENST00000356006.3	+	0	629																											cttcttcttcttttttttttt	0.393													2	4	---	---	---	---					
KIF1A	547	broad.mit.edu	37	2	241702180	241702180	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:241702180delT	ENST00000498729.2	-	23	2318	c.2072delA	c.(2071-2073)tcfs	p.Y692fs	KIF1A_ENST00000320389.7_Frame_Shift_Del_p.Y683fs	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	683					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGGTAGTACCTGGAGTC	0.617													2	4	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													5	7	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7191540	7191541	+	RNA	DEL	CA	CA	-			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703																											GGGGTGcacgcacacacacaca	0.530													7	47	---	---	---	---					
C16orf74	404550	broad.mit.edu	37	16	85743879	85743881	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:85743879_85743881delGCT	ENST00000602583.1	-	1	575_577	c.25_27delAGC	c.(25-27)del	p.S9del	C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000284245.4_In_Frame_Del_p.S21del|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602766.1_5'UTR			Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	21																	CCTCGTCGTGGCTGCTGCTGCTG	0.635													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939340	76939343	+	Frame_Shift_Del	DEL	CTAC	CTAC	-			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:76939340_76939343delCTAC	ENST00000373344.5	-	9	1619_1622	c.1405_1408delGTAG	c.(1405-1410)atfs	p.VD469fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.VD431fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	469					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)	TGCTCACTATCTACCTGTTTTCTT	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						132	279	---	---	---	---