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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													5	12					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918783	11918783	+	Silent	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:11918783C>T	ENST00000376468.3	-	1	205	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	36					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	TTTCCAAGTCCGAGGCTGAAC	0.637000													4	173					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005409	37005409	+	Silent	SNP	T	T	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:37005409T>C	ENST00000523638.1	-	3	1853	c.732A>G	c.(730-732)ggA>ggG	p.G244G	ZNF260_ENST00000588993.1_Silent_p.G244G|ZNF260_ENST00000593142.1_Silent_p.G244G|ZNF260_ENST00000592282.1_Silent_p.G244G	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	244					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AAGGTTTCTCTCCTGTGTGAC	0.413000													32	67					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175728	143175728	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr7:143175728G>A	ENST00000408916.1	+	1	763	c.763G>A	c.(763-765)Gca>Aca	p.A255T	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	255					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATTGATGCCGCAAAATTTAT	0.493000													4	145					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376067	8376067	+	Missense_Mutation	SNP	G	G	A	rs150256213		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr12:8376067G>A	ENST00000538603.1	-	6	968	c.410C>T	c.(409-411)aCg>aTg	p.T137M	FAM90A1_ENST00000307435.6_Missense_Mutation_p.T137M	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	137							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGAAGATTCCGTGGATCCTTT	0.527000													22	50					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671681	25671681	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr13:25671681C>T	ENST00000281589.3	+	1	1382	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	449					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGTGCTATCCGCCCAGGTGC	0.498000													4	188					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905566	129905566	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:129905566C>T	ENST00000368654.3	-	13	4913	c.4538G>A	c.(4537-4539)aGa>aAa	p.R1513K	MKI67_ENST00000368653.3_Missense_Mutation_p.R1153K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1513	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGACTTCTCTTGGACTG	0.498000													27	332					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204304519	204304519	+	Missense_Mutation	SNP	G	G	A	rs146219972	byFrequency	TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:204304519G>A	ENST00000319170.5	-	14	3693	c.3394C>T	c.(3394-3396)Cgc>Tgc	p.R1132C	RAPH1_ENST00000374493.3_Missense_Mutation_p.R1184C|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1132					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGTGAGGCGGGTGCTATCA	0.517000													44	54					0	0	1	0	0
TRIM6	117854	broad.mit.edu	37	11	5624532	5624532	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:5624532G>A	ENST00000380097.3	+	2	316	c.74G>A	c.(73-75)aGa>aAa	p.R25K	TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000278302.5_5'UTR|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000515022.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000380107.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R25K	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGAGCCAGGAGAGTAGCTACA	0.483000													11	40					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325168	57325168	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:57325168G>A	ENST00000326441.9	-	10	5005	c.4642C>T	c.(4642-4644)Cgt>Tgt	p.R1548C	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1422C|PEG3_ENST00000598410.1_Missense_Mutation_p.R1424C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1548C|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1548					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGCTGGCACGTTCGATGTAG	0.522000													20	75					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047557	11047557	+	RNA	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:11047557G>A	ENST00000470054.1	-	0	697									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTGTCACACGTATCACACAC	0.333000													33	470					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38645118	38645118	+	Silent	SNP	A	A	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:38645118A>G	ENST00000254051.6	-	3	701	c.543T>C	c.(541-543)agT>agC	p.S181S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	181	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGAGGCCACCACTGCGAAGGG	0.642000													6	153					0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043851	77043851	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:77043851A>C	ENST00000339142.2	+	5	1082	c.527A>C	c.(526-528)gAc>gCc	p.D176A	C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94A|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186A|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	176	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AACCTCTACGACCACTTCAAC	0.562000													64	115					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24800571	24800571	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:24800571C>G	ENST00000395799.3	+	6	737	c.608C>G	c.(607-609)tCa>tGa	p.S203*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.S203*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	203	Ser-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CACAGTACTTCAGGATCCCAT	0.353000													5	67					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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								22	45					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030832	94030832	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr5:94030832G>A	ENST00000265140.5	+	21	3411	c.2992G>A	c.(2992-2994)Gaa>Aaa	p.E998K	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	998										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AAGTCATAAAGAAACCACCAG	0.343000													9	55					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207679428	207679428	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:207679428C>T	ENST00000367049.4	+	2	301	c.301_splice	c.e2+1	p.R101_splice	CR1_ENST00000367051.1_Splice_Site_p.R101_splice|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Splice_Site_p.R101_splice|CR1_ENST00000367053.1_Splice_Site_p.R101_splice|CR1_ENST00000400960.2_Splice_Site_p.R101_splice	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	101	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGGTGCAGACGTAAGTAACT	0.418000													10	117					0	0	1	0	0
TCP10L	140290	broad.mit.edu	37	21	33954533	33954533	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:33954533C>T	ENST00000300258.3	-	3	450	c.337G>A	c.(337-339)Gcg>Acg	p.A113T	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTGCCCCGCGTGTGGGGAC	0.498000													57	112					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7578492C>T	ENST00000420246.2	-	5	570	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	146	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> 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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)		TGGAATCAACCCACAGCTGCA	0.602000		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)			28	60					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99683121	99683121	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:99683121C>T	ENST00000370597.3	-	4	813	c.458G>A	c.(457-459)cGc>cAc	p.R153H	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R153H|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R153H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	153						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCGGTTATTGCGGAACTTGAA	0.587000													4	114					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65346835	65346835	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr3:65346835T>C	ENST00000483466.1	-	23	4001	c.3760A>G	c.(3760-3762)Atg>Gtg	p.M1254V	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.M1158V	NM_004742.2	NP_004733.2	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	0					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CATGGAGTCATGCCAGGGAAG	0.483000													19	60					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25468438	25468438	+	RNA	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr15:25468438C>T	ENST00000453082.2	+	0	885				SNORD115-29_ENST00000362834.1_RNA	NR_003343.1																						GAGGTGATGACTTAAAAATCA	0.512000													14	474					0	0	1	0	0
MIR34A	0	broad.mit.edu	37	1	9211728	9211728	+	RNA	SNP	G	G	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:9211728G>C	ENST00000385130.1	-	0	108					NR_029610.1																						TTCCCTCTTGGGCCCCACAAC	0.552000													11	428					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													3	33					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36169409	36169409	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:36169409T>G	ENST00000357641.6	+	2	1563	c.1310T>G	c.(1309-1311)gTg>gGg	p.V437G	BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	437					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGGCGGGGTGAGTGGCTCC	0.547000													8	35					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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)	GGGGATCTTCGAAGATCAGAT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						88	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412203	179412203	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:179412203T>G	ENST00000589042.1	-	339	94374	c.94150A>C	c.(94150-94152)Agt>Cgt	p.S31384R	TTN_ENST00000342992.6_Missense_Mutation_p.S28816R|TTN_ENST00000342175.6_Missense_Mutation_p.S22511R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29743R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22444R|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22319R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29743	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTGAACTGACACGGAAA	0.383000													5	12					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038930	11038930	+	RNA	SNP	G	G	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:11038930G>T	ENST00000470054.1	-	0	1273									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCTGCCTTGCTTATGTCTG	0.428000													21	528					4.59853e-10	4.96641e-10	1	1	0
NYNRIN	57523	broad.mit.edu	37	14	24884572	24884572	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr14:24884572G>A	ENST00000382554.3	+	9	3935	c.3617G>A	c.(3616-3618)gGt>gAt	p.G1206D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1206					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGTCAGGGGGTGACAGCCCC	0.617000													63	96					0	0	1	0	0
ALG1L2	0	broad.mit.edu	37	3	129817127	129817127	+	RNA	SNP	A	A	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr3:129817127A>C	ENST00000507643.1	+	0	709							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CCAGTTCCGGAAGAACCTGCG	0.522000													3	52					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3190474	3190474	+	Silent	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:3190474G>A	ENST00000380989.2	-	17	1919	c.1881C>T	c.(1879-1881)tgC>tgT	p.C627C	PITRM1_ENST00000224949.4_Silent_p.C627C|PITRM1_ENST00000380994.1_Silent_p.C185C|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	0					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CAAGAAGGCCGCAGCCCAGCC	0.517000													4	145					0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94749873	94749873	+	Silent	SNP	A	A	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr5:94749873A>G	ENST00000283357.5	+	4	562	c.516A>G	c.(514-516)aaA>aaG	p.K172K		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	172										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GCATCGTCAAAAAACTCAGCC	0.418000													4	92					0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4308138	4308138	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:4308138G>A	ENST00000204517.6	-	7	1263	c.935C>T	c.(934-936)aCc>aTc	p.T312I		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	312					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTCGGAGGCGGTGTCAGAGGT	0.692000													5	85					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105836081	105836081	+	Silent	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:105836081G>A	ENST00000353479.5	-	5	599	c.309C>T	c.(307-309)caC>caT	p.H103H	COL17A1_ENST00000393211.3_Silent_p.H103H|COL17A1_ENST00000369733.3_Silent_p.H103H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	103	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGCGGGTAACGTGAGTTTTCC	0.507000													6	156					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35545360	35545360	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:35545360C>T	ENST00000353139.5	-	39	5114	c.4633G>A	c.(4633-4635)Gtc>Atc	p.V1545I	ACACA_ENST00000394406.2_Missense_Mutation_p.V1508I|ACACA_ENST00000360679.3_Missense_Mutation_p.V1450I|ACACA_ENST00000335166.5_Missense_Mutation_p.V1430I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1508					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)	GCCTGGAGGACGCGCAATTTC	0.483000													20	61					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													4	9					0	0	1	0	0
RP1-125I3.2	0	broad.mit.edu	37	1	26186960	26186960	+	RNA	DEL	T	T	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:26186960delT	ENST00000455431.1	+	0	263																											AATTTTGTAATTTTTTTTTTT	0.552													2	4	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gct>g	p.EA716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													10	110	---	---	---	---					
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)ggcfs	p.G18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													11	139	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134072551	134072551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:134072551delC	ENST00000264360.4	+	1	2082	c.1256delC	c.(1255-1257)gcfs	p.A419fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	419	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTTACCGAAGCCCCCCTGGAC	0.592													7	429	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													12	193	---	---	---	---					
ATP8B5P	0	broad.mit.edu	37	9	35450419	35450420	+	RNA	INS	-	-	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr9:35450419_35450420insC	ENST00000430846.1	+	0	3269_3270																											GGTTTTTTTTTCCCTAGTCATT	0.342													2	4	---	---	---	---					
LRFN4	78999	broad.mit.edu	37	11	66627620	66627620	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:66627620delG	ENST00000309602.4	+	2	2105	c.1862delG	c.(1861-1863)cgfs	p.R621fs	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	621						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCAGGGTGCCGGGGGGTAGGA	0.692													2	4	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)cgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													7	329	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23333802	23333802	+	RNA	DEL	A	A	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr15:23333802delA	ENST00000560464.1	-	0	908																											CTTACAGTTCAAAAAAAAAAA	0.443													3	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577157	7577158	+	Splice_Site	DEL	TA	TA	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7577157_7577158delTA	ENST00000420246.2	-	8	915		c.e8-2		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(12)|p.0?(8)|p.E258fs*71(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)		AGATTACCACTACTCAGGATAG	0.515		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)			3	6	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155916	50155918	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:50155916_50155918delCCT	ENST00000360565.3	+	7	2394_2396	c.2270_2272delCCT	c.(2269-2274)gcc>g	p.AS757del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	757	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCGGGGGCCGCCTCCTCCTCCTC	0.690													3	3	---	---	---	---					
PI4KAP1	0	broad.mit.edu	37	22	20393578	20393578	+	RNA	DEL	T	T	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr22:20393578delT	ENST00000430523.3	-	0	703					NR_003563.1																						ACAAGCCTTCTTTCTCTGGTC	0.602													2	4	---	---	---	---