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
AIFM1	9131	broad.mit.edu	37	X	129299534	129299534	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:129299534G>A	uc004evg.3	-	0	328	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	AIFM1_uc011mus.2_Missense_Mutation_p.R33W|AIFM1_uc004evh.3_Missense_Mutation_p.R33W|AIFM1_uc004evi.3_Missense_Mutation_p.R33W|AIFM1_uc004evk.3_5'UTR	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCTGGGAGCCGGTTCCTCTGC	0.672000													4	8					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521743	39521743	+	Silent	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:39521743G>A	uc002hwl.3	-	3	696	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	217	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGTCCACAGCGGGAGCAGCGT	0.562000													5	42					0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30806375	30806375	+	Missense_Mutation	SNP	A	A	G	rs1803015		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:30806375A>G	uc010cta.1	+	9	1059	c.1019A>G	c.(1018-1020)gAg>gGg	p.E340G	PSMD11_uc002hhm.3_Missense_Mutation_p.E340G	NM_002815	NP_002806	O00231	PSD11_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 (PSMD11), mRNA.	340	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CGAGTCATTGAGCCTTTTTCC	0.507000													76	8					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14517813	14517813	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:14517813T>C	uc003ssz.3	-	19	1998	c.1811A>G	c.(1810-1812)gAa>gGa	p.E604G	DGKB_uc011jxt.2_Missense_Mutation_p.E585G|DGKB_uc003sta.3_Missense_Mutation_p.E604G|DGKB_uc011jxu.2_Missense_Mutation_p.E603G	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	604					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGGTGTTTTTCTCTCATGAT	0.343000													4	5					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7867853	7867853	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:7867853G>T	uc001qtf.3	+	1	235	c.157G>T	c.(157-159)Gtt>Ttt	p.V53F		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	53						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TAGCGAATCTGTTTCCCCTCT	0.468000													28	98					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412710	105412710	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr14:105412710G>C	uc010axc.1	-	6	9198	c.9078C>G	c.(9076-9078)atC>atG	p.I3026M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.I2926M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3026						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTCAATGCTGATGTCAGTGG	0.642000													6	252					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530500	245530500	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:245530500C>T	uc001ibf.1	+	2	1270	c.830C>T	c.(829-831)gCg>gTg	p.A277V	KIF26B_uc010pyq.1_Missense_Mutation_p.A277V|KIF26B_uc010pyr.2_Missense_Mutation_p.A77V	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	277					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCAATGGGGCGGAAAAGAAG	0.617000													7	13					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73811495	73811495	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:73811495G>C	uc003uam.3	+	13	3139	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q	CLIP2_uc003uan.3_Missense_Mutation_p.E903Q	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	938						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACACAAGGCTGAGTGGCGGAT	0.637000													13	101					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	369129	369129	+	Silent	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:369129C>A	uc001qic.2	-	1	180	c.90G>T	c.(88-90)ctG>ctT	p.L30L	SLC6A13_uc009zdj.2_Silent_p.L30L|SLC6A13_uc010sdl.2_Silent_p.L30L|SLC6A13_uc001qid.2_Silent_p.L30L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	30				Missing (in Ref. 1; AAF64247).	neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCCCCCGCTCCAGGGTGCCAT	0.522000													8	361					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			9	7					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33414440	33414440	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:33414440C>T	uc002nty.3	-	11	1262	c.1173G>A	c.(1171-1173)atG>atA	p.M391I	CEP89_uc002ntx.3_Missense_Mutation_p.M144I|CEP89_uc010edg.3_Intron	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	391						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TAAACATTCTCATTTCCTCCT	0.388000													42	283					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36118007	36118007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr5:36118007C>A	uc003jkb.1	-	9	1547	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	378						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGACATTCCCAGTACCAT	0.358000													22	7					0	0	1	0	0
TCF15	6939	broad.mit.edu	37	20	590483	590483	+	Silent	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr20:590483C>T	uc002wdz.3	-	0	428	c.399G>A	c.(397-399)tcG>tcA	p.S133S		NM_004609	NP_004600	Q12870	TCF15_HUMAN	Homo sapiens transcription factor 15 (basic helix-loop-helix) (TCF15), mRNA.	133					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D132Y(1)		autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				CGTCGTCGGCCGAGTCGCCCA	0.741000													7	6					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92178081	92178081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:92178081C>A	uc001doh.3	-	12	2400	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	TGFBR3_uc009wde.3_Intron|TGFBR3_uc010osy.2_Nonsense_Mutation_p.E587*|TGFBR3_uc001doi.3_Nonsense_Mutation_p.E628*|TGFBR3_uc001doj.3_Nonsense_Mutation_p.E628*	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	629	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGTTCTTGTTCAGCCTTAGTA	0.383000													11	34					0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836425	94836425	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr10:94836425G>A	uc001kil.2	+	5	1169	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	CYP26A1_uc001kik.1_Missense_Mutation_p.R306Q	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	375					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GGAGGGTTTCGGGTTGCTCTG	0.403000													15	40					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73357694	73357694	+	Silent	SNP	T	T	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr13:73357694T>C	uc001vjc.3	+	1	392	c.87T>C	c.(85-87)gtT>gtC	p.V29V	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Silent_p.V29V|PIBF1_uc010aep.3_Intron|DIS3_uc001viy.4_5'Flank|DIS3_uc001vix.4_5'Flank|DIS3_uc001viz.3_5'Flank	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	29						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAACAACAGTTCCTACGGATG	0.348000													16	74					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103418917	103418917	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr14:103418917G>C	uc001ymi.1	-	23	3322	c.3090C>G	c.(3088-3090)atC>atG	p.I1030M	CDC42BPB_uc001ymj.1_Missense_Mutation_p.I132M	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1030					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGAAGGACTTGATGCTGAACT	0.547000													7	16					0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000													5	14					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8553429	8553429	+	Silent	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:8553429G>A	uc004csf.3	-	5	885	c.735C>T	c.(733-735)gaC>gaT	p.D245D		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	245	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	p.D245D(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GAACTCGCTCGTCTGTGGTCT	0.488000													36	39					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226065190	226065190	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:226065190A>C	uc001hpm.2	-	2	713	c.91T>G	c.(91-93)Tat>Gat	p.Y31D	TMEM63A_uc010pvi.1_Missense_Mutation_p.Y31D	NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	31						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TTGTAGCAATAGGAGTCGTTG	0.612000											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	22					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355451	56355451	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:56355451C>A	uc002ivu.1	-	6	1118	c.941G>T	c.(940-942)cGc>cTc	p.R314L		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	314					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CGGGCAGGAGCGGAAGAACGG	0.622000													75	4					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6105256	6105256	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:6105256G>A	uc001qnn.1	-	34	6225	c.5975C>T	c.(5974-5976)gCc>gTc	p.A1992V	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1992	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGGCTGCAGGCACCATTATG	0.522000													4	63					0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13873409	13873409	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:13873409G>A	uc002mxc.1	+	9	935	c.718G>A	c.(718-720)Gag>Aag	p.E240K	MRI1_uc002mxe.3_5'Flank|MRI1_uc002mxf.3_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	240					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCTAGCCTACGAGGACAAGCA	0.632000													14	15					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2685	2685	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrGL000237.1:2685G>C	uc011mgu.1	-	1		c.1_splice	c.e1-1							Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ccctaaactggcatgaggcct	0.557000													3	5					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29856318	29856318	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr6:29856318C>G	uc010jro.3	+	2	570	c.424C>G	c.(424-426)Cac>Gac	p.H142D	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Missense_Mutation_p.H140D|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	140	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GTATGAACAGCACGCCTACGA	0.672000													6	37					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37067374	37067374	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:37067374G>A	uc003cgl.3	+	11	1483	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	MLH1_uc011aye.2_Missense_Mutation_p.E188K|MLH1_uc011ayb.2_Missense_Mutation_p.E188K|MLH1_uc010hge.3_Missense_Mutation_p.E429K|MLH1_uc011ayc.2_Missense_Mutation_p.E331K|MLH1_uc011ayd.2_Missense_Mutation_p.E188K|MLH1_uc003cgo.3_Missense_Mutation_p.E188K|MLH1_uc003cgn.4_Missense_Mutation_p.E188K|MLH1_uc010hgg.1_Missense_Mutation_p.E88K|MLH1_uc010hgh.1_Missense_Mutation_p.E88K|MLH1_uc010hgi.1_Missense_Mutation_p.E71K|MLH1_uc010hgj.1_Missense_Mutation_p.E71K|MLH1_uc010hgk.3_Missense_Mutation_p.E71K|MLH1_uc010hgl.1_Intron|MLH1_uc010hgn.3_Missense_Mutation_p.E71K|MLH1_uc010hgm.3_Non-coding_Transcript|MLH1_uc010hgo.3_Missense_Mutation_p.E71K	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	429	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCAGCAAGATGAGGAGATGCT	0.517000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	150					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262839	128262839	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:128262839C>T	uc002ton.2	-	2	943	c.640G>A	c.(640-642)Gag>Aag	p.E214K	IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	214	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GGAAGCTCCTCACTTTCAGAA	0.507000													50	110					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142168367	142168367	+	Silent	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:142168367C>T	uc003eux.4	-	46	7961	c.7839G>A	c.(7837-7839)ccG>ccA	p.P2613P	XRN1_uc003eus.3_5'Flank|XRN1_uc003eut.3_5'Flank|XRN1_uc003euu.3_5'Flank|XRN1_uc003euw.3_5'Flank|XRN1_uc011bnh.2_5'Flank|ATR_uc003euy.1_3'UTR	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2613	FATC.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAATAGATAACGGCAGTCCTG	0.398000								Other conserved DNA damage response genes					19	18					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	116843	116843	+	RNA	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrGL000205.1:116843G>A	uc002kgk.4	+	0		c.221G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCATCCAAGGGAGAATCTCA	0.502000													2	0					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170648770	170648770	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr5:170648770G>A	uc003mba.3	+	21	2490	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	RANBP17_uc003mbb.3_Missense_Mutation_p.R108H|RANBP17_uc003mbd.3_Missense_Mutation_p.R146H|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	783					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGATCCCAGCGTTTGAATTTT	0.328000			T	TRD@	ALL								3	30					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284630	152284630	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:152284630G>A	uc001ezu.1	-	2	2768	c.2732C>T	c.(2731-2733)tCa>tTa	p.S911L	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	911	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G910G(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGTGACCCTGAGTG	0.572000									Ichthyosis				131	494					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184612	19184612	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:19184612C>T	uc003suo.1	-	0	433	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	125	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R125W(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CACCTTCCTCCGCAGCTGGTC	0.587000													27	20					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68700847	68700847	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr11:68700847C>T	uc001ook.1	+	8	1418	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	IGHMBP2_uc001ool.1_Missense_Mutation_p.T63M|IGHMBP2_uc001oom.1_Missense_Mutation_p.T17M	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	439					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGACACTGACGGTGCAGTAC	0.642000													5	14					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75282848	75282848	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr11:75282848T>G	uc001owr.3	+	4	1275	c.977T>G	c.(976-978)cTg>cGg	p.L326R	SERPINH1_uc009yug.3_Missense_Mutation_p.L326R|SERPINH1_uc001ows.3_Missense_Mutation_p.L326R|SERPINH1_uc001owt.3_Missense_Mutation_p.L109R	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	326					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GGGCTGGGCCTGACTGAGGCC	0.597000													23	17					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19627058	19627058	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:19627058C>T	uc021uqw.1	+	0	40	c.11C>T	c.(10-12)tCa>tTa	p.S4L	TSSK6_uc002nmq.3_5'Flank|TSSK6_uc002nmr.3_5'Flank|YJEFN3_uc021uqu.1_Missense_Mutation_p.S4L|YJEFN3_uc021uqv.1_Missense_Mutation_p.S4L			A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), transcript variant 2, mRNA.	0										NS(1)|breast(1)|lung(3)	5						ATGGCGGCGTCAAAGGTGAAG	0.612000													21	51					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6919630	6919630	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:6919630C>A	uc002mfw.3	+	12	1530	c.1492C>A	c.(1492-1494)Cac>Aac	p.H498N	EMR1_uc010dvc.3_Missense_Mutation_p.H498N|EMR1_uc010dvb.3_Missense_Mutation_p.H446N|EMR1_uc010xji.2_Missense_Mutation_p.H357N|EMR1_uc010xjj.2_Missense_Mutation_p.H321N	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	498	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCAAAGACCACCAGGCTCC	0.483000													27	57					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124985750	124985750	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr8:124985750C>G	uc003yqw.3	+	6	730	c.524C>G	c.(523-525)cCt>cGt	p.P175R		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	175						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TACAACCAACCTGGTAAGAAA	0.468000													6	33					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8555521	8555521	+	Silent	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:8555521G>A	uc002mkd.3	-	6	1926	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	669							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CATTGCTGGTGAACTCGATCA	0.662000													4	25					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97271234	97271234	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:97271234C>G	uc002swn.4	-	14	1902	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	KANSL3_uc002swh.4_Missense_Mutation_p.E474Q|KANSL3_uc002swi.4_Missense_Mutation_p.E513Q|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.E499Q|KANSL3_uc010fhz.3_Missense_Mutation_p.E406Q|KANSL3_uc002swl.4_Missense_Mutation_p.E487Q|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.E380Q|KANSL3_uc002swo.3_5'UTR|KANSL3_uc002swp.1_Missense_Mutation_p.E487Q	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	612																	TCTGGTGGTTCTGATGAAATG	0.498000													87	52					0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176944857	176944857	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:176944857T>A	uc010zeu.2	-	2	1595	c.1409A>T	c.(1408-1410)gAc>gTc	p.D470V		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	470						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGAGCCTCGTCCCTCTGGTC	0.726000													4	2					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582068	189582068	+	Silent	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:189582068C>T	uc003fry.2	+	4	716	c.627C>T	c.(625-627)tgC>tgT	p.C209C	TP63_uc003frx.2_Silent_p.C209C|TP63_uc003frz.2_Silent_p.C209C|TP63_uc010hzc.1_Silent_p.C209C|TP63_uc003fsa.2_Silent_p.C115C|TP63_uc003fsb.2_Silent_p.C115C|TP63_uc003fsc.2_Silent_p.C115C|TP63_uc003fsd.2_Silent_p.C115C|TP63_uc021xir.1_Silent_p.C115C|TP63_uc010hzd.1_Silent_p.C30C|TP63_uc003fse.1_Silent_p.C90C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	209					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAAAGACATGCCCCATCCAGA	0.512000										HNSCC(45;0.13)			5	219					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:52715971C>G	uc002pyp.3	+	4	831	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_uc010ydk.2_Missense_Mutation_p.P124R|PPP2R1A_uc010epm.1_Missense_Mutation_p.P219R|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.P179R(42)|p.P179L(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								37	43					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235472	3235472	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:3235472C>T	uc004crg.4	-	5	6407	c.6250G>A	c.(6250-6252)Ggg>Agg	p.G2084R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2084	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTACCGTCCCCGAGCACCCAG	0.642000													13	10					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170058203	170058203	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:170058203C>T	uc002ues.3	-	43	8600	c.8387G>A	c.(8386-8388)cGt>cAt	p.R2796H		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2796	LDL-receptor class A 18.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATAAACTCACGAGGTATGCA	0.433000													38	30					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000													3	16					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118173	118173	+	RNA	SNP	A	A	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrGL000205.1:118173A>G	uc002kgk.4	+	0		c.1551A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGATCCGCCAAGCCATCATA	0.493000													4	33					0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:65688807G>A	uc002jgc.3	+	8	1149	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_uc002jgb.3_3'UTR	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268I(4)|p.V268V(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557000													102	15					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161138253	161138253	+	Missense_Mutation	SNP	G	G	A	rs41270025		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:161138253G>A	uc001fyj.2	+	5	793	c.503G>A	c.(502-504)cGt>cAt	p.R168H	PPOX_uc001fyg.2_Missense_Mutation_p.R168H|PPOX_uc010pkg.1_Missense_Mutation_p.R6H|PPOX_uc001fyi.2_Missense_Mutation_p.R6H|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	168			R -> C.		heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTCTCTGCCGTGGAGTGTTT	0.512000													65	69					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564555	8564555	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:8564555T>A	uc002mkd.3	-	1	200	c.137A>T	c.(136-138)aAg>aTg	p.K46M		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	46	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGGGAGAACTTCTTCAGTTT	0.592000													21	134					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:7579591C>G	uc002gim.2	-	4	291	c.97_splice	c.e4-1	p.S33_splice	TP53_uc002gig.1_Splice_Site_p.S33_splice|TP53_uc002gih.3_Splice_Site_p.S33_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.S33_splice|TP53_uc010cnh.1_Splice_Site_p.S33_splice|TP53_uc002gij.2_Splice_Site_p.S33_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Intron	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	33	Interaction with HRMT1L2.|Transcription activation (acidic).		S -> T (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(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)		GCAAGGGGGACTGTAGATGGG	0.592000		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)			54	18					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	14					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100364805	100364805	+	Silent	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:100364805C>T	uc003duc.3	+	8	1231	c.963C>T	c.(961-963)tgC>tgT	p.C321C	GPR128_uc011bhc.2_Silent_p.C22C	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CCAAGACATGCGGCTTTGTAG	0.308000													13	20					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93603724	93603724	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:93603724T>C	uc003drb.4	-	11	1681	c.1340A>G	c.(1339-1341)gAt>gGt	p.D447G	PROS1_uc010hoo.3_Missense_Mutation_p.D316G|PROS1_uc003dqz.4_Missense_Mutation_p.D316G	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	447	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.D447H(1)|p.L446V(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TATACATCCATCTAGACGAGG	0.343000													10	27					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414292	68414292	+	RNA	SNP	G	G	A	rs142049020		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr9:68414292G>A	uc004aex.3	+	0		c.847G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		agacttgcaagtctctcactt	0.438000													3	14					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49772644	49772644	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr13:49772644G>T	uc001vcm.3	+	22	3226	c.2921G>T	c.(2920-2922)gGa>gTa	p.G974V	FNDC3A_uc001vcn.3_Missense_Mutation_p.G974V|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.G918V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	974	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGGGGAGAAGGAACTCCAAAG	0.403000													21	50					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													9	3	---	---	---	---					
GOLGA6L5	374650	broad.mit.edu	37	15	85055753	85055755	+	RNA	DEL	TCT	TCT	-			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr15:85055753_85055755delTCT	uc002bkm.2	-	5		c.805_807delAGA								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		TCACGTAGCCTCTCCTCCTGTTC	0.542													3	6	---	---	---	---					
DSN1	79980	broad.mit.edu	37	20	35399395	35399409	+	In_Frame_Del	DEL	TGAAGGGACTTCGAC	TGAAGGGACTTCGAC	-			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr20:35399395_35399409delTGAAGGGACTTCGAC	uc010gfr.3	-	2	595_609	c.222_236delGTCGAAGTCCCTTCA	c.(220-237)cagtcgaagtcccttcat>cat	p.QSKSL74del	DSN1_uc002xfz.3_In_Frame_Del_p.QSKSL74del|DSN1_uc002xfy.4_Intron|DSN1_uc010zvs.2_Intron|DSN1_uc002xga.3_In_Frame_Del_p.QSKSL74del|DSN1_uc002xgc.3_In_Frame_Del_p.QSKSL58del|DSN1_uc002xgb.3_In_Frame_Del_p.QSKSL58del	NM_001145316	NP_001138790	Q9H410	DSN1_HUMAN	Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1), transcript variant 1, mRNA.	74					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				AGGAGACAAATGAAGGGACTTCGACTGAAGTCTTT	0.498													45	141	---	---	---	---					
FANCB	2187	broad.mit.edu	37	X	14862842	14862843	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:14862842_14862843insA	uc004cwg.1	-	8	2215_2216	c.1947_1948insT	c.(1945-1950)tttgcafs	p.F649fs	FANCB_uc004cwh.1_Frame_Shift_Ins_p.F649fs	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	649					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GCAAGAAGTGCAAAAAGATCTT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	87	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	41055894	41055895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:41055894_41055895insA	uc004dfb.3	+	27	4769_4770	c.4136_4137insA	c.(4135-4137)ttafs	p.L1379fs	USP9X_uc004dfc.3_Frame_Shift_Ins_p.L1379fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1379					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTACTCTTTTAAGACACCTTC	0.347													14	42	---	---	---	---					
