Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LONP2	83752	broad.mit.edu	37	16	48381506	48381506	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48381506G>A	uc002efi.1	+	12	2116	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.R632Q	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	676					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGCGAGTCGAATGGATGGC	0.557000													4	100					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95027811	95027811	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:95027811C>T	uc004art.1	-	14	1713	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	IARS_uc004ars.1_Missense_Mutation_p.E331K|IARS_uc004aru.3_Missense_Mutation_p.E486K|IARS_uc010mqr.2_Missense_Mutation_p.E376K|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	486					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCTTCAAGTTCCGCCACTGAC	0.413000													7	213					0	0	1	0	0
HDAC8	55869	broad.mit.edu	37	X	71681859	71681859	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chrX:71681859G>A	uc004eau.3	-	8	1342	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	HDAC8_uc011mqe.2_Missense_Mutation_p.H191Y|HDAC8_uc011mqg.2_Missense_Mutation_p.H243Y|HDAC8_uc011mqf.2_Non-coding_Transcript	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	334					chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTTACCTCATGATCTGGGATC	0.483000													28	62					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48311247	48311247	+	Splice_Site	SNP	A	A	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48311247A>T	uc002efi.1	+	8	1331	c.1242_splice	c.e8-2	p.R414_splice	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Splice_Site|LONP2_uc002efj.1_Splice_Site_p.R370_splice	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	414					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGCTTTCTCTAGGCGCACCTA	0.463000													4	85					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74015142	74015142	+	Splice_Site	SNP	C	C	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:74015142C>G	uc010wss.1	-	11	1366	c.1138_splice	c.e11-1	p.A380_splice	EVPL_uc002jqi.2_Splice_Site_p.A380_splice|EVPL_uc010wst.1_Splice_Site	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	380	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTTCCTCTGCCTGCCGGGGGC	0.657000													12	23					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267381	107267381	+	Missense_Mutation	SNP	G	G	A	rs142994537		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:107267381G>A	uc011lvm.2	+	0	838	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGTATGCCGGACAAACCCC	0.428000													10	83					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	87					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110844602	110844602	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr13:110844602C>A	uc001vqw.4	-	23	1617	c.1495G>T	c.(1495-1497)Gac>Tac	p.D499Y		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	499	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAACCTCTGTCGCCCTTGGCC	0.498000													9	74					0	0	1	0	0
GLRX3	10539	broad.mit.edu	37	10	131943568	131943568	+	Silent	SNP	A	A	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:131943568A>G	uc001lkm.2	+	1	232	c.186A>G	c.(184-186)caA>caG	p.Q62Q	GLRX3_uc001lkn.2_Silent_p.Q62Q|GLRX3_uc001lko.3_Non-coding_Transcript	NM_006541	NP_006532	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 2, mRNA.	62	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AACTCCCTCAAGTTTCATTTG	0.428000													3	57					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97328316	97328316	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr15:97328316G>A	uc002bue.3	+	2	494	c.287G>A	c.(286-288)aGt>aAt	p.S96N	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	96										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			AACAGGAGAAGTGTCCTGTTT	0.473000													56	68					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100352918	100352918	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:100352918G>T	uc003uwj.3	+	14	3359	c.3194G>T	c.(3193-3195)aGc>aTc	p.S1065I	ZAN_uc003uwk.3_Missense_Mutation_p.S1065I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1065	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCAGGCCTAGCTGTGGGCCC	0.562000													73	186					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14015679	14015679	+	Silent	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr19:14015679G>A	uc002mxl.1	-	1	86	c.27C>T	c.(25-27)acC>acT	p.T9T	CC2D1A_uc002mxn.2_5'Flank|CC2D1A_uc002mxo.2_5'Flank|CC2D1A_uc002mxp.2_5'Flank	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	9					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACGTACCTGAGGTCCGCAGCT	0.413000													4	129					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283032	5283032	+	Missense_Mutation	SNP	C	C	T	rs146544539		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:5283032C>T	uc010zqw.2	-	1	817	c.809G>A	c.(808-810)cGc>cAc	p.R270H	PROKR2_uc010zqx.2_Missense_Mutation_p.R270H|PROKR2_uc010zqy.2_Missense_Mutation_p.R270H	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	270						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGTCTTCCTGCGGCAGCGCAG	0.597000										HNSCC(71;0.22)			9	57					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284755	62284755	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:62284755T>C	uc001ntl.3	-	4	17434	c.17134A>G	c.(17134-17136)Atc>Gtc	p.I5712V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5712					nervous system development	nucleus	protein binding	p.I5712T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCATTTTGATCTTGGACTTT	0.483000													3	149					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100409798	100409798	+	Silent	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:100409798C>T	uc004axq.3	+	6	1095	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	212	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CTCATGTACCCATGTTACAGG	0.368000													3	77					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175455163	175455163	+	Silent	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:175455163T>C	uc003fit.3	+	11	2053	c.1966T>C	c.(1966-1968)Tta>Cta	p.L656L		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	656					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATATAGCTTTAGAAGTTCA	0.313000													3	64					0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86193478	86193478	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:86193478T>G	uc003ydg.2	+	6	1031	c.689T>G	c.(688-690)cTc>cGc	p.L230R	CA13_uc003ydf.1_Intron	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	230					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						TTTCGCAGTCTCCTGTGCACA	0.458000													30	244					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27444776	27444776	+	Silent	SNP	C	C	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:27444776C>G	uc011aww.2	-	14	2396	c.2175G>C	c.(2173-2175)gtG>gtC	p.V725V	SLC4A7_uc011awx.2_Silent_p.V712V|SLC4A7_uc021wun.1_Silent_p.V601V|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Silent_p.V708V|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Silent_p.V597V|SLC4A7_uc011axb.2_Silent_p.V712V|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Silent_p.V597V|SLC4A7_uc010hfl.3_Silent_p.V266V|SLC4A7_uc003cdv.3_Silent_p.V716V|SLC4A7_uc003cdw.3_Silent_p.V592V	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	716						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TAATATAACACACAAGGCTGC	0.378000													6	145					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69758224	69758224	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr6:69758224A>T	uc010kak.3	+	12	2531	c.2255A>T	c.(2254-2256)aAa>aTa	p.K752I	BAI3_uc003pev.4_Missense_Mutation_p.K752I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	752					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTCATCAAAAGGTAAATAT	0.328000													5	47					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70522512	70522512	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:70522512C>T	uc001xly.3	-	4	2660	c.1906_splice	c.e4+1	p.D636_splice	SLC8A3_uc001xlv.3_Intron|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Splice_Site_p.D636_splice|SLC8A3_uc001xlx.3_Splice_Site_p.D637_splice|SLC8A3_uc001xlz.3_Intron|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	636					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACCTCTTACCTGGAGATAA	0.403000													15	16					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208159	113208159	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:113208159T>C	uc010mtz.3	-	25	4758	c.4421A>G	c.(4420-4422)gAt>gGt	p.D1474G	SVEP1_uc010mua.1_Missense_Mutation_p.D1474G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1474	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTGCCGTTATCAACTGCATA	0.453000													6	141					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59058923	59058923	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:59058923C>T	uc003xtj.1	+	4	1014	c.134C>T	c.(133-135)cCc>cTc	p.P45L	FAM110B_uc022auu.1_Missense_Mutation_p.P45L	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	45						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGCCCAACCCCAAGAGGCTC	0.667000													9	42					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507219	28507219	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:28507219C>T	uc002dqb.2	+	1	890	c.857C>T	c.(856-858)aCc>aTc	p.T286I	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Intron	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	286	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				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						GCCAGGACAACCCCAGGTAGG	0.632000													11	16					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871854	23871854	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:23871854G>C	uc003sws.4	+	23	2996	c.2929G>C	c.(2929-2931)Gag>Cag	p.E977Q	STK31_uc003swt.4_Missense_Mutation_p.E954Q|STK31_uc011jze.2_Missense_Mutation_p.E954Q|STK31_uc010kuq.3_Missense_Mutation_p.E954Q|STK31_uc003swv.1_Missense_Mutation_p.E143Q	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	977	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GATGCCAAAGGAGCAATCAGT	0.358000													3	95					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847272	94847272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:94847272G>A	uc001ycx.4	-	2	1114	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycy.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010auy.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001ycz.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010auz.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc010ava.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001ydb.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010avb.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001ydc.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010auw.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc010aux.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001yda.1_Nonsense_Mutation_p.Q285*	NM_000295	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 1, mRNA.	285					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TCCAGGTGCTGTAGTTTCCCC	0.507000													12	135					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128522	161128522	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr5:161128522C>T	uc003lyu.2	+	8	1443	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y	GABRA6_uc003lyv.2_Missense_Mutation_p.H140Y	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	369					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.H369Y(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCCAAATATCATCTGAAGAA	0.378000										TCGA Ovarian(5;0.080)			8	155					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7572986	7572986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:7572986G>A	uc002gim.2	-	10	1317	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.Q243*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.Q375*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	375	Basic (repression of DNA-binding).|Interaction with CARM1.				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.0?(8)|p.Q375*(2)|p.?(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)		GAGGTAGACTGACCCTTTTTG	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)			6	142					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39777757	39777757	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:39777757G>A	uc001wvi.4	+	12	1510	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	CTAGE5_uc010tqe.1_Missense_Mutation_p.E349K|CTAGE5_uc001wuy.4_Missense_Mutation_p.E307K|CTAGE5_uc001wuz.4_Missense_Mutation_p.E375K|CTAGE5_uc001wva.4_Missense_Mutation_p.E358K|CTAGE5_uc001wvb.4_Missense_Mutation_p.E358K|CTAGE5_uc001wvc.4_Missense_Mutation_p.E332K|CTAGE5_uc001wve.1_Missense_Mutation_p.E363K|CTAGE5_uc001wvf.4_Missense_Mutation_p.E312K|CTAGE5_uc001wvg.4_Missense_Mutation_p.E387K|CTAGE5_uc001wvh.4_Missense_Mutation_p.E387K|CTAGE5_uc010amz.3_Missense_Mutation_p.E3K|CTAGE5_uc001wvj.4_Missense_Mutation_p.E358K	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	387							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGTAATGACTGAATTATATCA	0.284000													5	100					0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2334910	2334910	+	Silent	SNP	C	C	T	rs147630481	by1000genomes	TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:2334910C>T	uc001lvy.1	+	4	518	c.381C>T	c.(379-381)taC>taT	p.Y127Y	TSPAN32_uc001lvx.1_Silent_p.Y186Y|TSPAN32_uc009ydk.1_Silent_p.Y137Y|TSPAN32_uc010qxk.2_Silent_p.Y162Y|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.Y97Y|TSPAN32_uc001lwb.1_Silent_p.Y97Y|TSPAN32_uc001lwc.1_Silent_p.Y72Y|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	127					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGGACACCTACGACCTGGTAT	0.672000													8	14					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973913	64973913	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:64973913T>A	uc001jmn.3	-	7	2314	c.2014A>T	c.(2014-2016)Aga>Tga	p.R672*	JMJD1C_uc001jml.3_Nonsense_Mutation_p.R453*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.R384*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.R490*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.R490*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Nonsense_Mutation_p.R384*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	672					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			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)					TTTGCCAATCTTCTTTCACCA	0.388000													21	95					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19770245	19770245	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr21:19770245A>T	uc002ykw.3	-	2	326	c.295T>A	c.(295-297)Tca>Aca	p.S99T		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	99	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGATTGCTTGATAGAAAGATC	0.244000													3	9					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58558037	58558037	+	Silent	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:58558037C>T	uc002ybe.3	+	4	764	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	151	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTTGATTTTCAACATTAGGA	0.413000													9	199					0	0	1	0	0