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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	167					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938562	76938562	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chrX:76938562G>C	ENST00000373344.5	-	9	2400	c.2186C>G	c.(2185-2187)tCa>tGa	p.S729*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S691*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	729					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)	ATCAGAATCTGAATTTTGATC	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						86	40					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2910030	2910030	+	Silent	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr8:2910030T>C	ENST00000602557.1	-	51	8172	c.7617A>G	c.(7615-7617)caA>caG	p.Q2539Q	CSMD1_ENST00000602723.1_Silent_p.Q2539Q|CSMD1_ENST00000537824.1_Silent_p.Q2538Q|CSMD1_ENST00000542608.1_Silent_p.Q2538Q|CSMD1_ENST00000520002.1_Silent_p.Q2539Q|CSMD1_ENST00000400186.3_Silent_p.Q2539Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2539	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCCATCTTCTTGACACACGG	0.502000													6	7					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141083421	141083421	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:141083421G>A	ENST00000389484.3	-	80	13221	c.12250C>T	c.(12250-12252)Cgc>Tgc	p.R4084C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4084					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATATATGCGTTCACTAAAA	0.378000										TSP Lung(27;0.18)			4	69					0	0	1	0	0
SSBP4	170463	broad.mit.edu	37	19	18541701	18541701	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr19:18541701C>A	ENST00000270061.7	+	5	624	c.330C>A	c.(328-330)gaC>gaA	p.D110E	SSBP4_ENST00000348495.6_Missense_Mutation_p.D110E|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CCCCAGGTGACACAATGGCCG	0.647000													3	30					2.56e-06	2.79273e-06	1	1	0
APOBEC1	339	broad.mit.edu	37	12	7805222	7805222	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:7805222G>A	ENST00000229304.4	-	3	274	c.254C>T	c.(253-255)aCc>aTc	p.T85I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	85					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAAGAACCAGGTGATGGAGCA	0.473000													9	59					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158787	102158787	+	Silent	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:102158787C>T	ENST00000299314.7	-	13	2170	c.1908G>A	c.(1906-1908)agG>agA	p.R636R		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	636					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGTCCCTCCCTTGTGTCCA	0.403000													37	64					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109357066	109357066	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:109357066C>A	ENST00000283195.6	+	7	1030	c.904C>A	c.(904-906)Cag>Aag	p.Q302K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	302					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAGATGGGTCAGCATAGTAG	0.413000													6	358					0.248553	0.253841	1	1	0
LOC101927648	101927648	broad.mit.edu	37	1	143403563	143403563	+	RNA	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453000													3	24					1.23904e-05	1.32164e-05	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													9	160					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105922110	105922110	+	Missense_Mutation	SNP	C	C	T	rs143442935	byFrequency	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr10:105922110C>T	ENST00000357060.3	-	25	3413	c.3298G>A	c.(3298-3300)Gtg>Atg	p.V1100M	WDR96_ENST00000428666.1_Missense_Mutation_p.V1101M	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1100										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCATGATTCACGATCAATTCT	0.403000													11	195					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	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	NM_001282387.1	NP_001269316.1	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								40	60					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475584	120475584	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:120475584A>G	ENST00000355622.6	+	3	1279	c.1178A>G	c.(1177-1179)cAa>cGa	p.Q393R	TLR4_ENST00000394487.4_Missense_Mutation_p.Q353R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	393					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGCTGTTCTCAAAGTGATTTT	0.388000													17	132					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899689	156899689	+	Silent	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr5:156899689C>A	ENST00000311946.7	+	6	1238	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	NIPAL4_ENST00000435489.2_Silent_p.I355I|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	374						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGTCCATCATCCTCTTCAAGG	0.512000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	49					1.7489e-18	1.99875e-18	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537142	27537142	+	RNA	SNP	A	A	G			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr10:27537142A>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CTCCGGCTCAATAGTCAGCTC	0.483000													75	123					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290002	62290002	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr11:62290002C>T	ENST00000378024.4	-	5	12161	c.11887G>A	c.(11887-11889)Gtc>Atc	p.V3963I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3963					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGTCCTGAGACGTCAAGGTCA	0.483000													24	476					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899850	156899850	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr5:156899850C>T	ENST00000311946.7	+	6	1399	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.P409L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	428						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCCCTTCTCCCGCCCCGGAA	0.517000													18	29					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79820286	79820286	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:79820286T>C	ENST00000360280.3	+	4	505	c.245T>C	c.(244-246)gTa>gCa	p.V82A	VPS13A_ENST00000376636.3_Missense_Mutation_p.V82A|VPS13A_ENST00000376634.4_Missense_Mutation_p.V82A|VPS13A_ENST00000357409.5_Missense_Mutation_p.V82A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	82					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTTGAAGCCGTATTGGAAGAA	0.229000													9	129					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	70					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523567	42523567	+	Missense_Mutation	SNP	T	T	C	rs61736517		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr22:42523567T>C	ENST00000360608.5	-	7	1169	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	352							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTAGGGCATGTGAGCCTGGTC	0.592000													5	46					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159504970	159504970	+	Silent	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:159504970C>T	ENST00000334857.2	-	1	872	c.828G>A	c.(826-828)acG>acA	p.T276T		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGATGGTGTACGTCACTGAGA	0.458000													49	62					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233391274	233391274	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:233391274C>T	ENST00000258385.3	+	2	120	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000536614.1_Missense_Mutation_p.R30W|CHRND_ENST00000543200.1_Missense_Mutation_p.R30W	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	30					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCGGCTGATCCGGCACCTGTT	0.632000													36	56					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36909834	36909834	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr13:36909834T>A	ENST00000451493.1	-	2	351	c.134A>T	c.(133-135)tAc>tTc	p.Y45F	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.Y45F|SPG20_ENST00000494062.2_Missense_Mutation_p.Y45F|SPG20_ENST00000438666.2_Missense_Mutation_p.Y45F	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	45	MIT.				cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCTTATAGTAGTTCTTTGC	0.398000													4	125					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95677044	95677044	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr14:95677044G>C	ENST00000298912.4	-	7	894	c.781C>G	c.(781-783)Ccc>Gcc	p.P261A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	261	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGGAGCCTGGGGATGTGCAGG	0.473000													46	54					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47086811	47086811	+	Silent	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr10:47086811C>T	ENST00000374312.1	+	3	447	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	NPY4R_ENST00000395716.1_Silent_p.L10L	NM_005972.4	NP_005963.4			neuropeptide Y receptor Y4																		CCTGGCCTTGCTGCTCCCAAA	0.488000													5	144					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518658	86518658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:86518658C>A	ENST00000297814.2	-	4	918	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	KIF27_ENST00000413982.1_Nonsense_Mutation_p.E259*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.E259*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	259	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTGAACCGTTCACCAGTATTC	0.438000													6	131					5.9392e-07	6.6298e-07	1	1	0
LRP1	4035	broad.mit.edu	37	12	57605713	57605713	+	Missense_Mutation	SNP	T	T	C	rs140219533		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:57605713T>C	ENST00000243077.3	+	87	13728	c.13262T>C	c.(13261-13263)aTa>aCa	p.I4421T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4421					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCAGATATAGCCTCCATC	0.612000													8	84					0	0	1	0	0
CD79B	974	broad.mit.edu	37	17	62007606	62007606	+	Silent	SNP	G	G	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:62007606G>C	ENST00000006750.3	-	3	350	c.258C>G	c.(256-258)ccC>ccG	p.P86P	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.P87P	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	86	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCAGCTGCTGGGGATTCTCGT	0.562000			"""Mis, O"""		DLBCL								4	67					0	0	1	0	0
TANK	10010	broad.mit.edu	37	2	162087928	162087928	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:162087928C>A	ENST00000392749.2	+	7	1206	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	TANK_ENST00000402568.1_Intron|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Missense_Mutation_p.L323M|AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.L323M	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	323						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAGGACAACTCTGGATAGAGC	0.428000													4	109					1	1	1	1	0
C6orf62	81688	broad.mit.edu	37	6	24718870	24718870	+	Silent	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr6:24718870T>C	ENST00000378119.4	-	1	2194	c.27A>G	c.(25-27)aaA>aaG	p.K9K	C6orf62_ENST00000378102.3_Intron|C6orf62_ENST00000540769.1_Intron	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	9						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TCAGAGCTTGTTTCTTCCGGG	0.398000													4	184					0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378928	31378928	+	Silent	SNP	C	C	T	rs41553614	by1000genomes	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr6:31378928C>T	ENST00000449934.2	+	3	459	c.405C>T	c.(403-405)taC>taT	p.Y135Y	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	135					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				ATTTCTACTACGATGGGGAGC	0.552000													7	10					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48806994	48806994	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr19:48806994C>T	ENST00000315396.7	-	8	1472	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	264										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TAGCAAAGCACCAGCCTCTCC	0.622000													11	105					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	677371	677371	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr18:677371T>C	ENST00000319815.6	-	6	1696	c.432A>G	c.(430-432)atA>atG	p.I144M	ENOSF1_ENST00000340116.7_Missense_Mutation_p.I381M|ENOSF1_ENST00000251101.7_Missense_Mutation_p.I374M|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I298M|ENOSF1_ENST00000383578.3_Missense_Mutation_p.I292M|ENOSF1_ENST00000583973.1_5'UTR			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	374					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CAGAAACTGATATGTAGTCAA	0.423000													32	56					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958545	16958546	+	RNA	INS	-	-	C	rs113787707		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:16958545_16958546insC	ENST00000412962.1	-	0	74																											ggcctcagtttcccatccgtgt	0.550													3	3	---	---	---	---					
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	RNA	INS	-	-	TG			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252													7	24	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	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)					ACGCTggtggtggcggcggcgg	0.762													6	3	---	---	---	---					
TMA16	55319	broad.mit.edu	37	4	164435271	164435272	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr4:164435271_164435272delAG	ENST00000358572.5	+	4	541_542	c.200_201delAG	c.(199-201)aagfs	p.K67fs	TMA16_ENST00000513272.1_Frame_Shift_Del_p.K67fs|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513134.1_Frame_Shift_Del_p.K67fs|TMA16_ENST00000508268.1_Frame_Shift_Del_p.K67fs	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	67																	CCCCAAAAAAAGAGATATTCAA	0.366													12	155	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578213	7578214	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:7578213_7578214delAA	ENST00000420246.2	-	6	767_768	c.635_636delTT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.F212fs*3(12)|p.0?(8)|p.?(5)|p.R213fs*35(3)|p.F212S(2)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.F212Y(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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)		CACTATGTCGAAAAGTGTTTCT	0.535		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)			52	6	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													8	48	---	---	---	---					
CYP2D6	1565	broad.mit.edu	37	22	42524176	42524178	+	Splice_Site	DEL	CTT	CTT	-	rs28371720		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr22:42524176_42524178delCTT	ENST00000360608.5	-	5	955_957	c.841_843delAAG	c.(841-843)aagdel	p.K281del	CYP2D6_ENST00000389970.3_Splice_Site_p.K281del|CYP2D6_ENST00000359033.4_Splice_Site_p.K230del|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	281							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCACTCTCACCTTCTCCATCTCT	0.640													7	11	---	---	---	---					
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chrX:21857869_21857871delTGG	ENST00000365779.2	+	1	98_100	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.V11del			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													2	4	---	---	---	---					
