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
GRM7	2917	broad.mit.edu	37	3	7188209	7188209	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:7188209G>A	uc003bqm.2	+	1	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R197H|GRM7_uc003bql.2_Missense_Mutation_p.R197H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	197					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCTTCTCTCGCGTGGTGCCA	0.522000														174			34		0	0	0.069456	0	0
CELSR1	9620	broad.mit.edu	37	22	46929761	46929761	+	Missense_Mutation	SNP	C	T	T	rs145654024		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:46929761C>T	uc003bhw.1	-	0	3307	c.3307G>A	c.(3307-3309)Gac>Aac	p.D1103N		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1103					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTGGAAGTCGGGCAGCACA	0.607000														324			32		0	0	0.069456	0	0
ABCA2	20	broad.mit.edu	37	9	139912486	139912486	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:139912486C>T	uc004ckm.1	-	14	2172	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	ABCA2_uc022bpy.1_Missense_Mutation_p.D609N|ABCA2_uc022bpz.1_Missense_Mutation_p.D679N|ABCA2_uc011mem.1_Missense_Mutation_p.D678N|ABCA2_uc004ckl.1_Missense_Mutation_p.D609N|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	678					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCACCACATCGTGCCCCACA	0.662000														36			10		0	0	0.093190	0	0
NDOR1	27158	broad.mit.edu	37	9	140110623	140110623	+	Silent	SNP	A	G	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:140110623A>G	uc004clx.3	+	12	1770	c.1659A>G	c.(1657-1659)gcA>gcG	p.A553A	NDOR1_uc004clw.3_Silent_p.A544A|NDOR1_uc011mes.2_Silent_p.A537A|NDOR1_uc004cly.3_Intron	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	544					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCAGGGTGCATACTTCTACC	0.642000														135			17		0	0	0.043863	0	0
MIB2	142678	broad.mit.edu	37	1	1563188	1563188	+	Silent	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1563188C>T	uc001agg.3	+	12	2049	c.2004C>T	c.(2002-2004)cgC>cgT	p.R668R	MIB2_uc001agh.3_Silent_p.R654R|MIB2_uc001agi.3_Silent_p.R664R|MIB2_uc001agj.3_Silent_p.R452R|MIB2_uc001agk.3_Silent_p.R603R|MIB2_uc001agl.2_Silent_p.R567R|MIB2_uc001agm.3_Silent_p.R488R|MIB2_uc010nyq.2_Silent_p.R567R|MIB2_uc009vkh.3_Silent_p.R417R|MIB2_uc001agn.3_Silent_p.R243R|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	611					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGTGAGCGCGGCTGTGACG	0.692000														12			8		0	0	0.047766	0	0
CDK11B	984	broad.mit.edu	37	1	1586881	1586881	+	RNA	SNP	G	A	A	rs139684849	by1000genomes	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1586881G>A	uc001ahc.1	-	2		c.277C>T			CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron			P21127	CD11B_HUMAN	Homo sapiens cell division cycle 2-like 1 (PITSLRE proteins), mRNA (cDNA clone IMAGE:4121554), partial cds.						apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						atctccatgcggtgatctctc	0.463000														86			3		0	0	0.004672	0	0
FAM102A	399665	broad.mit.edu	37	9	130707146	130707146	+	Missense_Mutation	SNP	T	C	C	rs11558950		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:130707146T>C	uc004bsx.2	-	8	1345	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	FAM102A_uc004bsw.1_Missense_Mutation_p.T175A|FAM102A_uc004bsy.1_Missense_Mutation_p.T45A	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	317								p.T317T(1)		breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCACCCAGGTCGGGTGGCTC	0.607000														91			3		0	0	0.004672	0	0
SCRN1	9805	broad.mit.edu	37	7	29963705	29963705	+	Silent	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:29963705G>A	uc011kaa.2	-	7	1222	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	SCRN1_uc011jzy.2_Silent_p.T303T|SCRN1_uc003tak.3_Silent_p.T371T|SCRN1_uc011jzz.2_Silent_p.T371T|SCRN1_uc011jzw.2_Silent_p.T238T|SCRN1_uc010kvp.3_Silent_p.T371T|SCRN1_uc011jzx.2_Silent_p.T194T	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	371					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GCTCCAGCATGGTGCTCCTCA	0.557000														150			17		0	0	0.033300	0	0
CEP41	95681	broad.mit.edu	37	7	130038826	130038826	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:130038826C>T	uc003vpz.3	-	10	1075	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CEP41_uc003vpy.3_Missense_Mutation_p.R105Q|CEP41_uc010lmf.3_Missense_Mutation_p.R140Q|CEP41_uc003vqa.3_Missense_Mutation_p.R271Q|CEP41_uc011kpg.2_Missense_Mutation_p.R255Q	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	343					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTGAGCGCTTCGGGCACCAGG	0.577000														480			46		0	0	0.039052	0	0
FAM182B	728882	broad.mit.edu	37	20	25848629	25848629	+	RNA	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr20:25848629C>T	uc002wvd.1	-	0		c.158G>A								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						gctgggatgccgtgctgcttc	0.667000														5			2		0	0	0.004672	0	0
CLIP4	79745	broad.mit.edu	37	2	29356592	29356592	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:29356592C>T	uc002rmv.3	+	4	678	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	CLIP4_uc002rmu.3_Missense_Mutation_p.R147C|CLIP4_uc010ezm.1_Missense_Mutation_p.R147C|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.R129C	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	147								p.R147C(2)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTGCGGAGTCGCTGGACAAA	0.368000														125			8		0	0	0.038147	0	0
MTA2	9219	broad.mit.edu	37	11	62361480	62361480	+	Missense_Mutation	SNP	A	C	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62361480A>C	uc001ntq.2	-	17	2264	c.1874T>G	c.(1873-1875)aTg>aGg	p.M625R	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.M452R	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	625					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGCTCGCCGCATTTCCAGATG	0.592000											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		237			13		0	0	0.024245	0	0
GANAB	23193	broad.mit.edu	37	11	62400156	62400156	+	Missense_Mutation	SNP	T	G	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62400156T>G	uc001nua.3	-	9	976	c.943A>C	c.(943-945)Atg>Ctg	p.M315L	GANAB_uc001nub.3_Missense_Mutation_p.M293L|GANAB_uc001nuc.3_Missense_Mutation_p.M196L|GANAB_uc010rma.2_Missense_Mutation_p.M201L|GANAB_uc010rmb.2_Missense_Mutation_p.M179L	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	293					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TACAAGGCCATTGGGTTGTAC	0.542000														554			24		0	0	0.108266	0	0
CDH19	28513	broad.mit.edu	37	18	64172539	64172539	+	Splice_Site	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:64172539C>T	uc002lkc.1	-	12	1967	c.1829_splice	c.e12-1	p.G610_splice	CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Splice_Site_p.G487_splice	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	610					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AAAAATAAACCCTGATGAAGA	0.303000														165			10		0	0	0.058154	0	0
SCN10A	6336	broad.mit.edu	37	3	38797286	38797286	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:38797286C>T	uc003ciq.3	-	9	1454	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	485					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	taccatcctgcgctGGTTGTA	0.493000														222			6		0	0	0.021553	0	0
RNF133	168433	broad.mit.edu	37	7	122338205	122338205	+	Silent	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:122338205G>A	uc003vkj.1	-	0	1004	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	256						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCAAATTACGCAGCTATCCC	0.398000														355			122		0	0	0.048971	0	0
GABRA5	2558	broad.mit.edu	37	15	27128668	27128668	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:27128668G>A	uc001zbd.2	+	5	993	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.R154Q	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	154					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGCTGCTGCGGCTGGAGGAC	0.677000														43			8		0	0	0.038147	0	0
LCLAT1	253558	broad.mit.edu	37	2	30863465	30863465	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30863465A>G	uc002rnj.3	+	6	1434	c.1225A>G	c.(1225-1227)Aat>Gat	p.N409D	LCLAT1_uc010ymp.2_Missense_Mutation_p.N247D|LCLAT1_uc002rnl.3_Missense_Mutation_p.N371D|LCLAT1_uc010ymq.2_Missense_Mutation_p.N371D	NM_182551	NP_001002257	Q6UWP7	LCLT1_HUMAN	Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA.	409					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCCACATTTAAATTCAAAGAA	0.343000														150			17		0	0	0.055883	0	0
BC139719	0	broad.mit.edu	37	16	90161057	90161057	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:90161057G>A	uc002fqq.3	+	2	287	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	BC139719_uc002fqp.3_Intron					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		CGTGAGCTGCGGGCGAGGACT	0.647000														117			10		0	0	0.069234	0	0
PLAC1L	219990	broad.mit.edu	37	11	59812148	59812148	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:59812148T>C	uc001nol.3	+	2	433	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	83						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCCTAGGTAGTTTCTGAGGAA	0.398000														135			28		0	0	0.099896	0	0
MCM9	254394	broad.mit.edu	37	6	119245149	119245149	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:119245149A>G	uc021zeh.1	-	1	463	c.448T>C	c.(448-450)Tgc>Cgc	p.C150R	MCM9_uc003pyh.3_Missense_Mutation_p.C150R	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	150					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACATGCTTGCATTTGTTACAC	0.458000														350			27		0	0	0.099896	0	0
CCDC87	55231	broad.mit.edu	37	11	66359044	66359044	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:66359044C>T	uc001oiq.4	-	0	1511	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	481										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TATCAATATCCATTTTTTCAA	0.458000														311			14		0	0	0.028581	0	0
ACAN	176	broad.mit.edu	37	15	89401845	89401845	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:89401845G>A	uc010upo.1	+	11	6403	c.6029G>A	c.(6028-6030)aGc>aAc	p.S2010N	ACAN_uc010upp.1_Missense_Mutation_p.S2010N|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2010					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATTTTGCCAGCACCACCAAT	0.522000														102			3		0	0	0.009096	0	0
CROCCP3	114819	broad.mit.edu	37	1	16809784	16809784	+	RNA	SNP	T	G	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:16809784T>G	uc001ays.2	-	6		c.937A>C			CROCCP3_uc001ayt.2_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA.																		CCCGGCACCTTCTCAGGAGCT	0.632000														10			2		0	0	0.004672	0	0
ZW10	9183	broad.mit.edu	37	11	113628513	113628513	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:113628513T>C	uc001poe.3	-	6	893	c.796A>G	c.(796-798)Ata>Gta	p.I266V	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	266	Interaction with RINT1.				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	p.V265V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGGCTTTCTATCACAGCATGA	0.378000														147			16		0	0	0.024245	0	0
LDB1	8861	broad.mit.edu	37	10	103871263	103871263	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:103871263G>A	uc009xwz.3	-	1	399	c.56C>T	c.(55-57)tCg>tTg	p.S19L	LDB1_uc001kuk.4_5'UTR|LDB1_uc001kul.3_5'UTR	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	19					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTCCTTCGGCGAGTACAGCTT	0.547000														62			42		0	0	0.104719	0	0
MAST4	375449	broad.mit.edu	37	5	66448610	66448610	+	Silent	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr5:66448610G>A	uc021xzk.1	+	24	3749	c.3441G>A	c.(3439-3441)tcG>tcA	p.S1147S	MAST4_uc003jut.2_Silent_p.S958S|MAST4_uc003juw.3_Silent_p.S886S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1150	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCACAGTTCGGGGAAGAACT	0.542000														154			7		0	0	0.038147	0	0
DOHH	83475	broad.mit.edu	37	19	3492382	3492382	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:3492382C>T	uc002lxs.3	-	3	630	c.467G>A	c.(466-468)cGt>cAt	p.R156H	DOHH_uc010xhl.2_Missense_Mutation_p.R156H	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	Homo sapiens deoxyhypusine hydroxylase/monooxygenase (DOHH), transcript variant 2, mRNA.	156					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACGTCACGCTCCTCAGC	0.746000														3			3		0	0	0.009096	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604235	13604235	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr4:13604235A>G	uc003gmz.1	-	9	4406	c.4289T>C	c.(4288-4290)gTa>gCa	p.V1430A	BOD1L1_uc010idr.1_Missense_Mutation_p.V767A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1430							DNA binding										GCCATTCTCTACTGTTGCTTT	0.378000														167			5		0	0	0.014758	0	0
TMEM109	79073	broad.mit.edu	37	11	60687346	60687346	+	Missense_Mutation	SNP	G	C	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:60687346G>C	uc001nqg.3	+	1	559	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	61						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGGTCGATCTGTGCGAGGGAC	0.542000														247			13		0	0	0.033300	0	0
IER3	8870	broad.mit.edu	37	6	30711944	30711944	+	Silent	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:30711944C>T	uc003nrn.3	-	1	272	c.240G>A	c.(238-240)ccG>ccA	p.P80P	FLOT1_uc003nrm.3_5'Flank|FLOT1_uc011dmr.2_5'Flank	NM_003897	NP_003888	P46695	IEX1_HUMAN	Homo sapiens immediate early response 3 (IER3), mRNA.	80					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						TGGCTGGGTTCGGTTCCTCGA	0.617000														167			5		0	0	0.029380	0	0
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:14513734C>T	uc010dln.3	-	9	1914	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	487								p.G487E(4)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323000														133			4		0	0	0.014758	0	0
APOBR	55911	broad.mit.edu	37	16	28507468	28507468	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:28507468G>A	uc002dqb.2	+	1	1139	c.1106G>A	c.(1105-1107)gGg>gAg	p.G369E	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	360	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.G360E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCTCAGGAGGGGACGAGGCC	0.657000														13			16		0	0	0.028581	0	0
MICALL1	85377	broad.mit.edu	37	22	38323471	38323471	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:38323471C>T	uc003aui.3	+	8	1794	c.1519C>T	c.(1519-1521)Cca>Tca	p.P507S		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	507	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.P507L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CACACCATCGCCAGCGCTCAG	0.677000														44			44		0	0	0.111260	0	0
CAPN13	92291	broad.mit.edu	37	2	30966407	30966407	+	Silent	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30966407C>T	uc021vfn.1	-	11	1319	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.S425S|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	429					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTTTCTGAACGAGGAAAAAA	0.473000														134			99		0	0	0.048971	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066417	46066417	+	Silent	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr21:46066417C>T	uc002zfr.4	+	0	87	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	14						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GCGCTTACTCCGACTCCTGGC	0.672000														129			5		0	0	0.038147	0	0
GRIN2C	2905	broad.mit.edu	37	17	72851092	72851092	+	Missense_Mutation	SNP	C	A	A	rs142837005	byFrequency	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:72851092C>A	uc002jlt.1	-	1	296	c.140G>T	c.(139-141)cGt>cTt	p.R47L	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.R47L|GRIN2C_uc002jlv.1_Missense_Mutation_p.R47L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	47					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGGCGGGCACGGAACTGGGC	0.687000														66			5		1.23904e-05	1.38481e-05	0.014758	1	0
NCAN	1463	broad.mit.edu	37	19	19337662	19337662	+	Silent	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:19337662G>A	uc002nlz.3	+	6	1539	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	NCAN_uc010ecc.1_Silent_p.R44R	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	480					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTAGGAGAAGGGGGCGCTTCA	0.667000														103			3		0	0	0.004672	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	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									92			45		0	0	0.048971	0	0
PDE1A	5136	broad.mit.edu	37	2	183095781	183095781	+	Nonsense_Mutation	SNP	A	C	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:183095781A>C	uc002uos.3	-	5	627	c.543T>G	c.(541-543)taT>taG	p.Y181*	PDE1A_uc010zfp.1_Nonsense_Mutation_p.Y77*|PDE1A_uc002uoq.1_Nonsense_Mutation_p.Y181*|PDE1A_uc010zfq.1_Nonsense_Mutation_p.Y181*|PDE1A_uc002uor.3_Nonsense_Mutation_p.Y165*|PDE1A_uc002uou.3_Nonsense_Mutation_p.Y147*	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	181					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TAAACAGTTCATAAATCATAA	0.323000														251			38		0	0	0.074837	0	0
GPR116	221395	broad.mit.edu	37	6	46826878	46826878	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:46826878C>T	uc003oyo.3	-	16	3051	c.2762G>A	c.(2761-2763)aGc>aAc	p.S921N	GPR116_uc011dwj.1_Missense_Mutation_p.S476N|GPR116_uc011dwk.1_Missense_Mutation_p.S350N|GPR116_uc003oyp.3_Missense_Mutation_p.S779N|GPR116_uc003oyq.3_Missense_Mutation_p.S921N|GPR116_uc010jzi.1_Missense_Mutation_p.S593N	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	921					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATCACTAAGCTCTCTGCAAA	0.448000														192			42		0	0	0.048971	0	0
PLD3	23646	broad.mit.edu	37	19	40883897	40883897	+	Silent	SNP	C	G	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:40883897C>G	uc002onm.4	+	12	1688	c.1290C>G	c.(1288-1290)acC>acG	p.T430T	PLD3_uc002onj.4_Silent_p.T430T|PLD3_uc002onn.3_Silent_p.T430T	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	430	PLD phosphodiesterase 2.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCTAGGAACCTCCAACTGGT	0.647000														139			23		0	0	0.076483	0	0
KLHL18	23276	broad.mit.edu	37	3	47361235	47361235	+	Silent	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:47361235C>T	uc003crd.3	+	1	348	c.222C>T	c.(220-222)tgC>tgT	p.C74C	KLHL18_uc003crc.2_Silent_p.C74C|KLHL18_uc011bav.2_Intron	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	74	BTB.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGATGGAGTGCAAGCAGGATG	0.493000														279			16		0	0	0.028581	0	0
C3	718	broad.mit.edu	37	19	6697496	6697496	+	Silent	SNP	G	A	A	rs140780068		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:6697496G>A	uc002mfm.3	-	20	2717	c.2655C>T	c.(2653-2655)acC>acT	p.T885T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	885					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGATGGTTACGGTCTGCTGGT	0.587000														117			9		0	0	0.047766	0	0
STAB2	55576	broad.mit.edu	37	12	104049284	104049284	+	Silent	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104049284C>T	uc001tjw.3	+	14	1845	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	553	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGGACCATACACCATTTTTG	0.423000														53			60		0	0	0.048971	0	0
LRP1	4035	broad.mit.edu	37	12	57577624	57577624	+	Missense_Mutation	SNP	C	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:57577624C>A	uc001snd.3	+	35	6327	c.5861C>A	c.(5860-5862)aCg>aAg	p.T1954K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1954					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGACCAGACGTGGCGTGAA	0.612000														119			3		0.004672	0.00514597	0.004672	1	0
HCN3	57657	broad.mit.edu	37	1	155257756	155257756	+	Silent	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:155257756G>A	uc001fjz.1	+	7	1835	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	HCN3_uc010pfz.1_Silent_p.A304A	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	609						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A609A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTACATGCGCCCCTTCAGG	0.627000														95			8		0	0	0.069234	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147367	26147367	+	Missense_Mutation	SNP	A	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:26147367A>T	uc002dof.3	+	1	1561	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	390					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.K390E(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TATTTCAACAAAACCAAGGGG	0.517000														85			21		0	0	0.062417	0	0
OR1C1	26188	broad.mit.edu	37	1	247920937	247920937	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:247920937C>T	uc010pza.2	-	0	772	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V258V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512000														44			51		0	0	0.048971	0	0
TDG	6996	broad.mit.edu	37	12	104374683	104374683	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104374683C>T	uc001tkg.3	+	3	644	c.421C>T	c.(421-423)Ccg>Tcg	p.P141S	TDG_uc009zuk.3_Missense_Mutation_p.P137S|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	141					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.P141P(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGGCATAAACCCGGGACTAAT	0.363000								Base excision repair (BER), DNA glycosylases						208			23		0	0	0.099896	0	0
PKD1	5310	broad.mit.edu	37	16	2147949	2147949	+	Nonsense_Mutation	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:2147949G>A	uc002cos.1	-	30	10296	c.10087C>T	c.(10087-10089)Cag>Tag	p.Q3363*	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Nonsense_Mutation_p.Q3363*|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3363					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCAGCACCTGCTGCCCGGCA	0.662000														31			3		0	0	0.004672	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904114	21904114	+	RNA	SNP	A	G	G	rs75848292		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:21904114A>G	uc002gza.2	+	0		c.53A>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tccggctgccaggagtcgcaa	0.687000														31			15		0	0	0.024245	0	0
SMC1B	27127	broad.mit.edu	37	22	45785706	45785706	+	Silent	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:45785706G>A	uc003bgc.3	-	9	1669	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	SMC1B_uc003bgd.3_Silent_p.G539G|SMC1B_uc003bge.1_Silent_p.G322G	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	539	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.G539G(3)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGATGAACCGGCCAAAAACCT	0.413000														225			5		0	0	0.021553	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501762	90501762	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:90501762G>A	uc004app.4	+	3	2395	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	FAM75E1_uc004apo.1_Missense_Mutation_p.R599H	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	787						integral to membrane											CCTGTGCGTCGCTCCTGGCTC	0.577000														178			26		0	0	0.091800	0	0
FAM154A	158297	broad.mit.edu	37	9	18928507	18928507	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:18928507C>T	uc003zni.2	-	3	1318	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	FAM154A_uc010mip.2_Missense_Mutation_p.R131Q	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	323										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGTGCAGGTCGGCAGGACTG	0.562000														147			9		0	0	0.058154	0	0
TP53	7157	broad.mit.edu	37	17	7577101	7577101	+	Frame_Shift_Del	DEL	C	-	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:7577101delC	uc002gim.2	-	7	1031	c.837delG	c.(835-837)gggfs	p.G279fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.G279fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.G147fs|TP53_uc010cnf.1_Frame_Shift_Del_p.G147fs|TP53_uc002gii.1_Frame_Shift_Del_p.G147fs|TP53_uc010cni.1_Frame_Shift_Del_p.G279fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G279fs|TP53_uc002gij.2_Frame_Shift_Del_p.G279fs|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.	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.P278L(58)|p.P278S(53)|p.G279E(32)|p.P278R(28)|p.P278T(22)|p.P278A(20)|p.P278H(12)|p.G279R(8)|p.0?(8)|p.G279G(6)|p.P278fs*67(5)|p.G279V(5)|p.P278F(4)|p.G279fs*65(4)|p.A276_R283delACPGRDRR(2)|p.G279_R280delGR(2)|p.G279W(2)|p.P278fs*28(2)|p.G279fs*59(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.G279fs*27(2)|p.A276fs*64(1)|p.V274_P278del(1)|p.R280fs*62(1)|p.C277_P278insXXXXXXX(1)|p.P278_G279insXXXXX(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.G279fs*26(1)|p.P278P(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)		GCCGGTCTCTCCCAGGACAGG	0.547		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)			---	20	---	---	90	---					
ATRX	546	broad.mit.edu	37	X	76907649	76907650	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chrX:76907649_76907650delTC	uc004ecp.4	-	14	4743_4744	c.4511_4512delGA	c.(4510-4512)cgafs	p.R1504fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.R1466fs|ATRX_uc004eco.4_Frame_Shift_Del_p.R1289fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1504					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)	CAATACGTTTTCGTCTCTCTTC	0.386			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	59	---	---	180	---					
