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
SLC39A9	55334	broad.mit.edu	37	14	69908908	69908908	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr14:69908908G>A	uc001xle.3	+	2	1030	c.328G>A	c.(328-330)Gtt>Att	p.V110I	SLC39A9_uc021rvg.1_5'UTR|SLC39A9_uc021rvh.1_5'UTR|SLC39A9_uc001xlf.4_Missense_Mutation_p.V110I|SLC39A9_uc010aqx.3_Missense_Mutation_p.V110I|SLC39A9_uc001xlg.4_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	110					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CTATATTGGTGTTTCCCTCGT	0.483000													31	193					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975791	32975791	+	Splice_Site	SNP	G	G	A	rs138032675		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:32975791G>A	uc003ocr.3	-	2	407	c.331_splice	c.e2+1	p.V111_splice	HLA-DOA_uc010juj.3_Splice_Site_p.V81_splice|HLA-DOA_uc010jui.3_Splice_Site_p.V111_splice	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	111	Alpha-2.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCGGTACCGTTGATGGCTC	0.657000													5	62					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2910516	2910516	+	Silent	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:2910516G>A	uc001qkz.3	+	8	1464	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	422					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTGAGGAGGAGAACAAGGTGA	0.557000													33	190					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41796600	41796600	+	Silent	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr15:41796600G>A	uc001zoa.3	-	18	2464	c.2286C>T	c.(2284-2286)caC>caT	p.H762H	LTK_uc001zob.3_Silent_p.H701H|LTK_uc010ucx.1_Silent_p.H632H|LTK_uc010bcg.2_Silent_p.H460H	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	762	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTCAGGCTCGTGCTGCCAAC	0.592000										TSP Lung(18;0.14)			6	67					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11012923	11012923	+	RNA	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr21:11012923T>C	uc002yis.1	-	8		c.1698A>G						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTACCTAGCTTTTTTACTTTT	0.289000													4	42					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179921	166179921	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:166179921A>G	uc002udc.3	+	11	2217	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	SCN2A_uc002udd.3_Missense_Mutation_p.K643E|SCN2A_uc002ude.3_Missense_Mutation_p.K643E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	643					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G642R(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CATGAATGGGAAGATGCATAG	0.617000													6	46					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:45390466A>G	uc011dvx.2	+	2	405	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_uc011dvy.2_Silent_p.Q65Q|RUNX2_uc003oxt.3_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													4	31					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356531	55356531	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:55356531G>A	uc010spd.1	-	8	1284	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	TESPA1_uc001sgl.3_Missense_Mutation_p.S246L|TESPA1_uc001sgm.3_Missense_Mutation_p.S131L|TESPA1_uc010spb.1_Missense_Mutation_p.S131L|TESPA1_uc010spc.1_Missense_Mutation_p.S246L|TESPA1_uc001sgn.3_Missense_Mutation_p.S384L	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	384								p.S246L(1)|p.S384L(1)									CTTGGGGTTCGAATCCAGAGT	0.507000													33	34					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72201914	72201914	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr18:72201914A>T	uc002llq.3	+	0	223	c.12A>T	c.(10-12)aaA>aaT	p.K4N		NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	4					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGGATCCCAAACTCGGGAGAA	0.537000													13	33					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142309	49142309	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:49142309C>T	uc004dnh.2	+	3	1184	c.1157C>T	c.(1156-1158)cCg>cTg	p.P386L	PPP1R3F_uc004dni.3_Missense_Mutation_p.P40L|PPP1R3F_uc011mnd.2_Missense_Mutation_p.P57L|PPP1R3F_uc004dnj.2_Missense_Mutation_p.P40L	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	386						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCTGACGTTCCGATGACTGGC	0.577000													23	38					0	0	1	0	0
IMMP2L	83943	broad.mit.edu	37	7	110303732	110303732	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:110303732G>A	uc003vfq.2	-	5	897	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	IMMP2L_uc010ljr.2_Missense_Mutation_p.P152S	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	152					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	p.W151L(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CGCTCTGGGGGCCACAGGATA	0.448000													5	93					0	0	1	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436146	113436146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:113436146C>T	uc003ias.3	-	1	813	c.486G>A	c.(484-486)tgG>tgA	p.W162*	NEUROG2_uc021xqu.1_Nonsense_Mutation_p.W162*	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	Homo sapiens neurogenin 2 (NEUROG2), mRNA.	162	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGTGAGTGCCCAGATGTAGT	0.711000													9	37					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224594	59224594	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:59224594G>A	uc010rku.2	+	0	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R54H(2)|p.R54S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTGAGTCCCGCCTACACACT	0.458000													7	112					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840572	1840572	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:1840572C>T	uc002ftp.3	-	1	563	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	182					axon regeneration	anchored to plasma membrane	receptor activity	p.H181H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGCTTGTTGCCGTGGAGAAAC	0.602000													8	63					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856443	62856443	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:62856443T>C	uc002jey.2	-	10	4437	c.3821A>G	c.(3820-3822)gAc>gGc	p.D1274G	LRRC37A3_uc010wqg.1_Missense_Mutation_p.D392G|LRRC37A3_uc002jex.1_Missense_Mutation_p.D251G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.D312G|LRRC37A3_uc010dek.1_Missense_Mutation_p.D280G|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1274						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGGGTTAAGTCTTTCCATCT	0.458000													21	154					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112327906	112327906	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:112327906T>G	uc001tta.3	+	12	1544	c.1285T>G	c.(1285-1287)Tgc>Ggc	p.C429G	MAPKAPK5_uc001tsz.3_Missense_Mutation_p.C427G	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5), transcript variant 2, mRNA.	429					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TAACCGGGAATGCAAACTCCT	0.428000													4	6					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2816330	2816330	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:2816330G>A	uc002crk.3	+	10	6350	c.5801G>A	c.(5800-5802)cGt>cAt	p.R1934H	SRRM2_uc002crj.1_Missense_Mutation_p.R1838H|SRRM2_uc002crl.1_Missense_Mutation_p.R1934H|SRRM2_uc010bsu.1_Missense_Mutation_p.R1838H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1934	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACCCGCCGTCGTTCAAGGTCT	0.582000													57	71					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511961	61511961	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511961C>T	uc002ydr.2	-	15	5659	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K	DIDO1_uc002yds.2_Missense_Mutation_p.E1783K	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1783	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATATTCTCTTCTGGAAACGGA	0.612000													16	197					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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								45	58					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			14	17					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511992	61511992	+	Silent	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511992C>T	uc002ydr.2	-	15	5628	c.5316G>A	c.(5314-5316)ccG>ccA	p.P1772P	DIDO1_uc002yds.2_Silent_p.P1772P	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1772	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCTTGGTCCCGGGAAATTGG	0.632000													11	198					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280577	105280577	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:105280577A>G	uc010npd.3	-	0	708	c.473T>C	c.(472-474)gTc>gCc	p.V158A	SERPINA7_uc004eme.2_Missense_Mutation_p.V158A|SERPINA7_uc010npe.2_Missense_Mutation_p.V158A	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	158					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V158D(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGTAGAAAAGACTTCAGTCTC	0.438000													15	281					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916511	72916511	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:72916511G>C	uc002jme.1	-	1	603	c.420C>G	c.(418-420)ttC>ttG	p.F140L	USH1G_uc010wro.1_Missense_Mutation_p.F37L	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	140					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCGCCTCGCGGAAGGCCTTGT	0.672000													4	67					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20441726	20441726	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:20441726A>G	uc003suu.3	+	9	2369	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	ITGB8_uc011jyh.2_Missense_Mutation_p.Y420C	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	555	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCTTGTCCATATCACCATGGA	0.363000													9	131					0	0	1	0	0
ZNF259	8882	broad.mit.edu	37	11	116657243	116657243	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:116657243T>C	uc001ppp.3	-	3	512	c.479A>G	c.(478-480)gAc>gGc	p.D160G		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	160					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TGCAGGCTGGTCCTGCTCCAG	0.478000													20	50					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147484546	147484546	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:147484546A>G	uc003lox.2	+	15	1535	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E	SPINK5_uc010jgs.1_Missense_Mutation_p.K460E|SPINK5_uc010jgr.2_Missense_Mutation_p.K469E|SPINK5_uc003low.2_Missense_Mutation_p.K488E|SPINK5_uc003loy.2_Missense_Mutation_p.K488E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	488	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAGGCTAAAAGAGAAGC	0.328000													4	28					0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54331952	54331952	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:54331952C>G	uc001cvu.3	-	8	1123	c.752G>C	c.(751-753)cGt>cCt	p.R251P	YIPF1_uc001cvv.3_Non-coding_Transcript|YIPF1_uc001cvx.3_Non-coding_Transcript|YIPF1_uc001cvy.3_Non-coding_Transcript	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.	251						integral to membrane|transport vesicle		p.R251H(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTATCCTCACGAACAGCTGG	0.483000													44	64					0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58030901	58030901	+	Silent	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:58030901C>T	uc002emx.1	-	1	1892	c.1269G>A	c.(1267-1269)gcG>gcA	p.A423A	ZNF319_uc021tjd.1_Silent_p.A423A	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCCGCTCGGCCGCGCCGGGCA	0.657000													14	40					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:18260436C>T	uc002nhz.4	+	26	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	1277							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTCGATGAGCCGCAGGAGGAG	0.667000													8	32					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	C	A	rs4041777		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr21:11012916C>A	uc002yis.1	-	9		c.1704_splice	c.e9+1					P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TCAAATTTTACCTAGCTTTTT	0.299000													5	42					0.014758	0.014758	1	1	0
OR4C16	219428	broad.mit.edu	37	11	55339961	55339961	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:55339961C>T	uc010rih.2	+	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GGCTGTTGACCGCTATGTGGA	0.517000													105	135					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761529	96761529	+	Silent	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:96761529A>G	uc003htr.4	+	0	291	c.228A>G	c.(226-228)gcA>gcG	p.A76A		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	76					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AATTGAAGGCAGATCAGCTGT	0.537000													6	133					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736148	12736148	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:12736148T>C	uc004cuz.2	+	15	3709	c.3203T>C	c.(3202-3204)gTg>gCg	p.V1068A	FRMPD4_uc011mij.2_Missense_Mutation_p.V1060A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1068					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTTGGTACTGTGTCTTCACGA	0.507000													7	157					0	0	1	0	0
IL29	282618	broad.mit.edu	37	19	39788648	39788648	+	Silent	SNP	G	G	A	rs150964916	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:39788648G>A	uc002okv.3	+	2	391	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	98					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGCCCTGACGCTGAAGGTCC	0.642000													5	75					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17794714	17794714	+	Silent	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr8:17794714T>C	uc022asj.1	+	1	190	c.168T>C	c.(166-168)agT>agC	p.S56S	PCM1_uc003wyi.4_Silent_p.S56S|PCM1_uc011kyh.2_Silent_p.S56S|PCM1_uc003wyj.4_Silent_p.S56S|PCM1_uc003wyg.2_Silent_p.S56S|PCM1_uc003wyh.3_Silent_p.S56S|PCM1_uc010lta.1_Silent_p.S56S	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	56					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTGTAGAAAGTGATAAAAGAG	0.373000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								4	15					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30419419	30419419	+	Silent	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr21:30419419T>C	uc002ymy.3	+	13	1990	c.1788T>C	c.(1786-1788)aaT>aaC	p.N596N	USP16_uc002ymx.3_Silent_p.N595N|USP16_uc002ymw.3_Silent_p.N596N|USP16_uc011acm.2_Silent_p.N581N|USP16_uc011acn.2_Silent_p.N262N|USP16_uc011aco.2_Silent_p.N286N	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	596					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGATTCTGAATGATAGTCATA	0.378000													25	131					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563635	140563635	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:140563635G>A	uc003liv.3	+	0	2656	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.677000													9	139					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79348733	79348733	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:79348733C>T	uc010ysd.2	+	1	177	c.110C>T	c.(109-111)cCa>cTa	p.P37L	REG1A_uc010ffx.1_Missense_Mutation_p.P37L|REG1A_uc002snz.3_Missense_Mutation_p.P37L	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	37	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.C36R(1)|p.P37A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATCAGCTGCCCAGAAGGCACC	0.527000													62	272					0	0	1	0	0
PXMP2	5827	broad.mit.edu	37	12	133277886	133277886	+	Silent	SNP	G	G	A	rs139134478	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:133277886G>A	uc001ukt.3	+	3	515	c.450G>A	c.(448-450)ccG>ccA	p.P150P	PGAM5_uc010tbr.2_Non-coding_Transcript	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	150						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCTTCTGGCCGGCGCTGAGGA	0.612000													6	115					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875777	27875777	+	Silent	SNP	C	C	T	rs151218177		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:27875777C>T	uc021ojw.1	-	0	2850	c.2850G>A	c.(2848-2850)ccG>ccA	p.P950P	AHDC1_uc009vsy.3_Silent_p.P950P|AHDC1_uc009vsz.1_Silent_p.P950P	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	950							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGCTGAGGGCGGGGGCACCA	0.672000													55	61					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152697565	152697565	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:152697565T>C	uc021zhb.1	-	55	9498	c.9275A>G	c.(9274-9276)gAt>gGt	p.D3092G	SYNE1_uc003qot.4_Missense_Mutation_p.D3099G|SYNE1_uc003qou.4_Missense_Mutation_p.D3092G|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_Missense_Mutation_p.D170G|SYNE1_uc010kjb.1_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3092					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGAGGTATATCAAAACACTT	0.358000										HNSCC(10;0.0054)			43	44					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32599062	32599062	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:32599062G>A	uc003tcv.1	+	9	1347	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	AVL9_uc011kai.2_Missense_Mutation_p.A401T|AVL9_uc010kwj.1_Missense_Mutation_p.A242T	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	401						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATGCCCCTGGCCATCTTCAC	0.388000													28	40					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120628568	120628569	+	In_Frame_Ins	INS	-	-	CGC			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:120628568_120628569insCGC	uc003eec.4	+	1	283_284	c.143_144insCGC	c.(142-144)gag>gaCGCg	p.48_48E>DA	STXBP5L_uc011bji.2_In_Frame_Ins_p.48_48E>DA	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	48					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTTCTCAGAGAGGAAATTCAGG	0.480													17	30	---	---	---	---					
PLCH1	23007	broad.mit.edu	37	3	155215187	155215187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:155215187delT	uc021xge.1	-	13	2057	c.1780delA	c.(1780-1782)accfs	p.T594fs	PLCH1_uc021xgd.1_Frame_Shift_Del_p.T594fs|PLCH1_uc021xgf.1_Frame_Shift_Del_p.T576fs	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	594					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCTTCATGGTTTTCCTTCGG	0.468													56	82	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577076	7577077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577076_7577077insC	uc002gim.2	-	7	1055_1056	c.861_862insG	c.(859-864)gagaatfs	p.E287fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.E287fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.E155fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.E155fs|TP53_uc002gii.1_Frame_Shift_Ins_p.E155fs|TP53_uc010cni.1_Frame_Shift_Ins_p.E287fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.E287fs|TP53_uc002gij.2_Frame_Shift_Ins_p.E287fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	287	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(56)|p.N288fs*13(34)|p.E286*(18)|p.E286G(16)|p.E287*(11)|p.E287E(10)|p.E286V(8)|p.0?(8)|p.E287K(6)|p.N288S(6)|p.N288Y(6)|p.E286Q(5)|p.N288fs*18(5)|p.N288fs*57(5)|p.E287D(4)|p.E286fs*17(4)|p.E285_N288delEEEN(2)|p.E287G(2)|p.E287fs*17(2)|p.R282_E287delRRTEEE(2)|p.T284_G293del10(2)|p.N288D(2)|p.?(2)|p.L265_K305del41(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.V272_K292del21(2)|p.N288fs*17(2)|p.N288fs*15(2)|p.E286fs*59(2)|p.E285_L289delEEENL(2)|p.E287V(1)|p.E287A(1)|p.N288K(1)|p.E285fs*13(1)|p.R283fs*56(1)|p.E286A(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)		TTGCGGAGATTCTCTTCCTCTG	0.569		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)			33	42	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:45247389delT	uc002ile.4	-	3	398	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_uc002ild.4_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	91					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	p.I91fs*54(2)		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						CCAGATAAGATTTGTTCCCCT	0.323													7	119	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:43969653_43969655delAGC	uc002owl.1	-	0	177_179	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L	LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													7	172	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:76939673_76939674insT	uc004ecp.4	-	8	1306_1307	c.1074_1075insA	c.(1072-1077)aaactgfs	p.K358fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K303fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	358					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	GTCTCAATCAGTTTTTTTGCCT	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						71	136	---	---	---	---					
