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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:7578403C>A	uc002gim.2	-	4	721	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.3_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.2_Missense_Mutation_p.C137F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.R175H(807)|p.C176F(241)|p.C176Y(122)|p.C176S(27)|p.R175L(19)|p.R175G(15)|p.R175C(15)|p.C176R(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.0?(8)|p.C176*(8)|p.C176fs*71(7)|p.R175P(6)|p.C176_R181delCPHHER(6)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.C176G(4)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.C176fs*5(3)|p.V157_C176del20(2)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R175fs*5(2)|p.R174_C176delRRC(2)|p.V173fs*59(2)|p.C176del(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R81fs*24(1)|p.C176fs*6(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652000		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			13		2.61681e-11	2.88521e-11	1	1	0
HABP4	22927	broad.mit.edu	37	9	99227725	99227725	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:99227725G>T	uc010msg.3	+	2	767	c.619G>T	c.(619-621)Gct>Tct	p.A207S	HABP4_uc010msh.3_Intron	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	Homo sapiens hyaluronan binding protein 4 (HABP4), mRNA.	207					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGTTTTTGACGCTTTTGACCA	0.473000														92			4		0.000602214	0.000602214	1	1	0
NUP188	23511	broad.mit.edu	37	9	131730829	131730829	+	Silent	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:131730829A>G	uc004bws.1	+	8	652	c.630A>G	c.(628-630)gaA>gaG	p.E210E		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	210					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCCTTCGGGAACAGTCCATGC	0.388000														131			4		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035256	184035256	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:184035256T>C	uc003fnp.3	+	4	566	c.295T>C	c.(295-297)Tcc>Ccc	p.S99P	EIF4G1_uc003fno.2_Intron|EIF4G1_uc010hxw.2_Intron|EIF4G1_uc010hxx.3_Missense_Mutation_p.S106P|EIF4G1_uc003fnt.3_Intron|EIF4G1_uc010hxy.3_Missense_Mutation_p.S106P|EIF4G1_uc003fnq.3_Missense_Mutation_p.S12P|EIF4G1_uc003fnr.3_Intron|EIF4G1_uc003fns.3_Missense_Mutation_p.S59P|EIF4G1_uc010hxz.2_Missense_Mutation_p.S12P|EIF4G1_uc003fnv.4_Missense_Mutation_p.S99P|EIF4G1_uc003fnw.3_Missense_Mutation_p.S106P|EIF4G1_uc003fnx.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	99					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTACCCAGCCTCCCAGGGGGC	0.612000														94			4		0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51475088	51475088	+	Splice_Site	SNP	C	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:51475088C>T	uc003dbe.2	-	9	1212	c.1027_splice	c.e9-1	p.L343_splice	VPRBP_uc021wys.1_Splice_Site_p.L342_splice	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	343					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGGAAGTAGCTGAAATGAAC	0.378000														276			6		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3856040	3856040	+	Silent	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:3856040A>G	uc003zhx.1	-	8	3155	c.2442T>C	c.(2440-2442)tcT>tcC	p.S814S	GLIS3_uc010mhf.1_Silent_p.S208S|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Silent_p.S659S|GLIS3_uc003zhy.1_Silent_p.S592S	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	659					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTTGAAAAGAAGAGTTTGTTT	0.443000														181			5		0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30661055	30661055	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr22:30661055A>G	uc003ahb.3	-	1	154	c.113T>C	c.(112-114)cTc>cCc	p.L38P		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	38					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CTGGCCAAGGAGCACGCGGTA	0.577000														57			4		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172750382	172750382	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:172750382G>T	uc003mco.1	-	2	1656	c.346C>A	c.(346-348)Cac>Aac	p.H116N	STC2_uc003mcn.1_Missense_Mutation_p.H31N	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	116					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGAACCTGTGCCGCAGAGCG	0.592000														95			7		8.12818e-05	8.32171e-05	1	1	0
RPL13AP6	644511	broad.mit.edu	37	10	112696659	112696659	+	Silent	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:112696659A>G	uc010qrh.1	-	0	355	c.333T>C	c.(331-333)ccT>ccC	p.P111P	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.P111P(1)									TCTTGTCGTAAGGCGGTGGGA	0.577000														9			4		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127952	152127952	+	Silent	SNP	T	C	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:152127952T>C	uc001ezs.1	-	2	1688	c.1623A>G	c.(1621-1623)caA>caG	p.Q541Q		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	541	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R540K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AACTCTGGCCTTGTCTGTCCA	0.522000														204			5		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3669873	3669873	+	Splice_Site	SNP	T	C	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr20:3669873T>C	uc002wja.3	-	20	4998	c.4998_splice	c.e20-1	p.R1666_splice	SIGLEC1_uc002wiz.4_Intron|SIGLEC1_uc002wjb.1_3'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1666					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACACGCCTCCTTCTGCAAGGC	0.587000														97			4		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346309	135346309	+	Silent	SNP	T	C	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:135346309T>C	uc001lnj.1	+	4	795	c.762T>C	c.(760-762)caT>caC	p.H254H	CYP2E1_uc001lnk.1_Silent_p.H117H|CYP2E1_uc009ybl.1_Silent_p.H55H|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Silent_p.H55H	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	254					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|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|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AGGAGCACCATCAATCTCTGG	0.532000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					24			8		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748124	143748124	+	Silent	SNP	G	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:143748124G>A	uc011ktw.2	+	0	630	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTGGGGCCGCTCTGCCTGG	0.597000														137			6		0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135570529	135570529	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:135570529A>G	uc004ezv.1	+	0	405	c.256A>G	c.(256-258)Atc>Gtc	p.I86V		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	86					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAATATTTTCATCACCAGCCT	0.418000														140			22		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828559	76828559	+	Silent	SNP	G	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:76828559G>A	uc003ugb.3	-	0	592	c.552C>T	c.(550-552)gtC>gtT	p.V184V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	184					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCAAACTATTGACAACAAATG	0.343000														63			62		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118048	118048	+	RNA	SNP	G	C	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrGL000205.1:118048G>C	uc002kgk.4	+	0		c.1426G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ATGAGTCGGAGCCCTTTAGTT	0.577000														53			12		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138701	31138701	+	Silent	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:31138701A>G	uc010qdz.2	-	6	1068	c.633T>C	c.(631-633)caT>caC	p.H211H	ZNF438_uc001ivn.3_Silent_p.H162H|ZNF438_uc010qdy.2_Silent_p.H201H|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Silent_p.H211H|ZNF438_uc001ivp.4_Silent_p.H201H|ZNF438_uc010qea.2_Silent_p.H211H|ZNF438_uc010qeb.2_Silent_p.H211H|ZNF438_uc010qec.1_Intron	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCAGACTGCCATGGGTGTTGG	0.552000														70			4		0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52233380	52233380	+	Silent	SNP	C	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:52233380C>A	uc011bec.2	+	2	494	c.174C>A	c.(172-174)gcC>gcA	p.A58A	ALAS1_uc003dcx.2_Silent_p.A41A|ALAS1_uc003dcy.2_Silent_p.A41A|ALAS1_uc003dcz.2_Silent_p.A41A	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	41					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAGTTGGGGCCAAGCCAGCCC	0.527000														99			7		3.09899e-07	3.33141e-07	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1265531	1265531	+	Silent	SNP	C	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr16:1265531C>T	uc002cks.3	+	29	5430	c.5182C>T	c.(5182-5184)Ctg>Ttg	p.L1728L	CACNA1H_uc002ckt.3_Silent_p.L1722L|CACNA1H_uc002cku.3_Silent_p.L434L|CACNA1H_uc010brj.3_Silent_p.L439L|CACNA1H_uc002ckv.3_Silent_p.L428L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1728					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGTGCTGAAGCTGCTGAAGAT	0.721000														41			3		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86954776	86954776	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:86954776A>T	uc001dlt.3	+	7	1540	c.1280A>T	c.(1279-1281)cAa>cTa	p.Q427L	CLCA1_uc001dls.1_Missense_Mutation_p.Q366L	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	427	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GAGGTCAAACAAAGTGGTGCC	0.478000														39			15		0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50187922	50187922	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr22:50187922C>T	uc011arg.2	-	6	2280	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	BRD1_uc011arf.2_Missense_Mutation_p.A302T|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.A707T|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.A707T	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	707					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCTCTGTTGGCGGGGTCCAGC	0.602000														37			8		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672144	30672144	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:30672144C>A	uc003nrg.4	-	9	5256	c.4816G>T	c.(4816-4818)Gtc>Ttc	p.V1606F	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.V1213F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1606	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGGGTCTTGACAGAGGACCTA	0.602000								Other conserved DNA damage response genes						35			62		9.4991e-31	1.0749e-30	1	1	0
UNC13D	201294	broad.mit.edu	37	17	73826730	73826730	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73826730C>T	uc002jpp.3	-	27	3018	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N		NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	880	MHD2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTCCAGGTCCCTCTGCAGA	0.647000									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			6		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000														35			3		0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1236022	1236022	+	Silent	SNP	C	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:1236022C>T	uc002lrm.2	-	1	335	c.60G>A	c.(58-60)tcG>tcA	p.S20S		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	20	Thr-rich.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTGTCCCACGACGTCGTCA	0.687000										HNSCC(14;0.022)				49			15		0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158056511	158056511	+	Silent	SNP	G	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:158056511G>A	uc001frn.4	+	4	1040	c.636G>A	c.(634-636)gaG>gaA	p.E212E	KIRREL_uc010pib.2_Silent_p.E112E|KIRREL_uc009wsq.3_Intron|KIRREL_uc001fro.4_Silent_p.E10E	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	212	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GTGGCAAGGAGACTTCCATCG	0.567000														29			11		0	0	1	0	0
NEDD4L	23327	broad.mit.edu	37	18	56063457	56063457	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:56063457C>T	uc002lgy.3	+	30	3167	c.2884C>T	c.(2884-2886)Ctc>Ttc	p.L962F	NEDD4L_uc002lgz.3_Missense_Mutation_p.L898F|NEDD4L_uc002lgx.3_Missense_Mutation_p.L942F|NEDD4L_uc010xee.1_Missense_Mutation_p.L841F|NEDD4L_uc002lhc.2_Missense_Mutation_p.L954F|NEDD4L_uc002lhd.2_Missense_Mutation_p.L841F|NEDD4L_uc002lhb.2_Missense_Mutation_p.L821F|NEDD4L_uc002lhe.2_Missense_Mutation_p.L934F|NEDD4L_uc002lhf.3_Missense_Mutation_p.L821F|NEDD4L_uc002lhg.3_Missense_Mutation_p.L841F|NEDD4L_uc002lhh.2_Missense_Mutation_p.L737F	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	962	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGAGAAACTTCTCATGGCCGT	0.453000														44			19		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746533	158746533	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:158746533A>G	uc010pir.2	-	0	893	c.893T>C	c.(892-894)aTt>aCt	p.I298T		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I297I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GATAGCTTTAATGATTTCCTT	0.408000														34			16		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421569	150421569	+	Silent	SNP	T	C	C	rs142916868	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:150421569T>C	uc003eyg.3	-	0	174	c.117A>G	c.(115-117)gaA>gaG	p.E39E	FAM194A_uc003eyh.3_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	39	Glu-rich.							p.E39E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						cctccacctcttcctcctcct	0.627000														21			4		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113062943	113062943	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:113062943A>G	uc001ecb.3	+	4	1503	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	WNT2B_uc001eca.3_Missense_Mutation_p.K311E|WNT2B_uc009wgg.3_Missense_Mutation_p.K238E	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	330					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	p.S329L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGACATCAAAAGGAACAGA	0.537000														19			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497287	179497287	+	Silent	SNP	T	C	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:179497287T>C	uc021vsy.1	-	183	35967	c.35742A>G	c.(35740-35742)gaA>gaG	p.E11914E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.E5609E|TTN_uc021vta.1_Silent_p.E5542E|TTN_uc021vtb.1_Silent_p.E5417E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12841	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGCTTATCTTCAGCTTCAA	0.343000														102			4		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119731958	119731958	+	Silent	SNP	G	A	A	rs140866852	by1000genomes	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:119731958G>A	uc002tln.1	+	4	642	c.510G>A	c.(508-510)ccG>ccA	p.P170P	MARCO_uc010yyf.1_Silent_p.P92P	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	170	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCCTGGCCCGCCGGGACCAC	0.567000														38			5		0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44218791	44218791	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:44218791T>G	uc003oxa.1	+	6	1048	c.964T>G	c.(964-966)Tct>Gct	p.S322A	HSP90AB1_uc011dvr.1_Missense_Mutation_p.S312A|HSP90AB1_uc003oxb.1_Missense_Mutation_p.S322A|HSP90AB1_uc011dvs.1_Missense_Mutation_p.S142A|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	322					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAGCACTTTTCTGTAGAAGG	0.383000														58			39		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47451335	47451335	+	Missense_Mutation	SNP	C	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:47451335C>G	uc003tnw.3	-	12	1071	c.713G>C	c.(712-714)gGa>gCa	p.G238A	TNS3_uc010kyo.1_Missense_Mutation_p.G238A	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	238	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CATGACATCTCCCTTCAGAAG	0.512000														98			27		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54329718	54329718	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:54329718G>A	uc003jpl.1	+	4	803	c.759G>A	c.(757-759)tgG>tgA	p.W253*		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	253	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCAGACTTGGATCAAAAGCA	0.408000														69			26		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212578299	212578299	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:212578299T>C	uc002veg.1	-	7	1056	c.958A>G	c.(958-960)Att>Gtt	p.I320V	ERBB4_uc002veh.1_Missense_Mutation_p.I320V|ERBB4_uc010zji.1_Missense_Mutation_p.I320V|ERBB4_uc010zjj.1_Missense_Mutation_p.I320V|ERBB4_uc010fut.1_Missense_Mutation_p.I320V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	320	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.I320F(2)|p.G319E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACATTTTAATCCCATTTTCT	0.358000										TSP Lung(8;0.080)				25			46		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34724247	34724247	+	Silent	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:34724247A>G	uc003teh.1	+	1	359	c.231A>G	c.(229-231)agA>agG	p.R77R	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.R77R|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.R77R|NPSR1_uc003tei.1_Silent_p.R77R|NPSR1_uc010kww.1_Silent_p.R77R|NPSR1_uc011kar.1_Silent_p.R77R	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	77						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CATGGAGGAGAAAGAAGAAGT	0.428000														156			4		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170060758	170060758	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:170060758A>G	uc002ues.3	-	41	7952	c.7739T>C	c.(7738-7740)cTg>cCg	p.L2580P		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2580					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACGCCCGTCAGAGTGCTGCG	0.428000														21			9		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156437191	156437191	+	Splice_Site	SNP	A	G	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:156437191A>G	uc003wmo.3	+	3	246	c.16_splice	c.e3-2	p.G6_splice	RNF32_uc010lql.1_Splice_Site|RNF32_uc010lqm.3_Splice_Site_p.G6_splice|RNF32_uc003wmq.3_Splice_Site_p.G6_splice|RNF32_uc003wmr.3_Splice_Site_p.G6_splice|RNF32_uc003wms.3_Splice_Site_p.G6_splice|RNF32_uc003wmu.3_Splice_Site|RNF32_uc003wmt.3_Splice_Site_p.G6_splice	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	6						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCTACTTTTTAGGGTCACTCA	0.343000														85			58		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123282632	123282632	+	Splice_Site	SNP	A	T	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:123282632A>T	uc001udc.3	+	8	1024	c.862_splice	c.e8-1	p.I288_splice	CCDC62_uc010tah.2_Splice_Site|CCDC62_uc001ude.3_Splice_Site_p.I49_splice|CCDC62_uc021rfn.1_Splice_Site_p.I103_splice	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	288						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TCTATGACAGATTTATGTAAA	0.313000														101			32		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7504944	7504944	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:7504944G>A	uc002mgi.3	+	0	371	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	ARHGEF18_uc010xjm.1_Intron|ARHGEF18_uc002mgh.3_Intron	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	40					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AAACGGCGCAGCCCAGCCTGG	0.662000														17			3		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	T	T	rs121912664		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:7574017C>T	uc002gim.2	-	9	1204	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205H|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337H|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337L(25)|p.R337C(16)|p.0?(8)|p.R337H(7)|p.E336*(5)|p.R337G(1)|p.?(1)|p.R337fs*8(1)|p.E336fs*12(1)|p.I332fs*5(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)		CATCTCGAAGCGCTCACGCCC	0.527000		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)				19			16		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346310	135346310	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:135346310C>A	uc001lnj.1	+	4	796	c.763C>A	c.(763-765)Caa>Aaa	p.Q255K	CYP2E1_uc001lnk.1_Missense_Mutation_p.Q118K|CYP2E1_uc009ybl.1_Missense_Mutation_p.Q56K|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.Q56K	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	255					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|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|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGAGCACCATCAATCTCTGGA	0.532000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					24			8		3.07112e-06	3.22093e-06	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21904162	21904165	+	Frame_Shift_Del	DEL	AGAA	-	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:21904162_21904165delAGAA	uc003svc.3	+	70	11435_11438	c.11404_11407delAGAA	c.(11404-11409)agaaagfs	p.R3802fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3802					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTTTGTTGAGAAAGAAAGAGAT	0.387									Kartagener syndrome				---	55	---	---	10	---					
JMJD1C	221037	broad.mit.edu	37	10	64957252	64957253	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:64957252_64957253insA	uc001jmn.3	-	12	5862_5863	c.5562_5563insT	c.(5560-5565)tttaacfs	p.F1854fs	JMJD1C_uc001jml.3_Frame_Shift_Ins_p.F1635fs|JMJD1C_uc001jmm.3_Frame_Shift_Ins_p.F1566fs|JMJD1C_uc010qiq.2_Frame_Shift_Ins_p.F1672fs|JMJD1C_uc009xpi.3_Frame_Shift_Ins_p.F1672fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Frame_Shift_Ins_p.F752fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1854					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.Y1855H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGTGAATGTTAAACAATGTTG	0.381													---	72	---	---	25	---					
SLC4A8	9498	broad.mit.edu	37	12	51868953	51868954	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:51868953_51868954insA	uc001rys.1	+	15	2313_2314	c.2135_2136insA	c.(2134-2136)ttafs	p.L712fs	SLC4A8_uc001rym.3_Frame_Shift_Ins_p.L659fs|SLC4A8_uc001ryn.3_Frame_Shift_Ins_p.L659fs|SLC4A8_uc001ryo.2_Frame_Shift_Ins_p.L659fs|SLC4A8_uc010snj.2_Frame_Shift_Ins_p.L739fs|SLC4A8_uc001ryr.3_Frame_Shift_Ins_p.L712fs|SLC4A8_uc010snk.2_Frame_Shift_Ins_p.L659fs	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	712					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAAGCACCTTAAAGACGTTTA	0.441													---	261	---	---	7	---					
LLGL2	3993	broad.mit.edu	37	17	73566231	73566231	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73566231delT	uc002joh.3	+	14	1923	c.1769delT	c.(1768-1770)gtgfs	p.V590fs	LLGL2_uc002joi.3_Frame_Shift_Del_p.V590fs|LLGL2_uc010dgg.2_Frame_Shift_Del_p.V590fs|LLGL2_uc002joj.3_Frame_Shift_Del_p.V579fs|LLGL2_uc010wsd.2_Frame_Shift_Del_p.V217fs	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	590					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCCCGGCTGTGGTCACCTCC	0.672													---	36	---	---	22	---					
RPGR	6103	broad.mit.edu	37	X	38145385	38145385	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:38145385delT	uc004ded.1	-	14	3035	c.2867delA	c.(2866-2868)gagfs	p.E956fs	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	750					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ctcttccccctcccattctcc	0.617													---	5	---	---	3	---					
