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	ENST00000287295.3	-	1	327	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	AIFM1_ENST00000535724.1_5'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.R33W|AIFM1_ENST00000319908.3_Missense_Mutation_p.R33W	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	33					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	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	ENST00000251646.3	-	4	700	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	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	40					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	ENST00000261712.3	+	10	1282	c.1019A>G	c.(1018-1020)gAg>gGg	p.E340G	PSMD11_ENST00000457654.2_Missense_Mutation_p.E340G	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	340	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|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
NDUFA13	51079	broad.mit.edu	37	19	19626917	19626917	+	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.chr19:19626917C>T	ENST00000252576.5	+	1	119	c.119C>T	c.(118-120)tCg>tTg	p.S40L	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCCGCGCGGTCGGATAGTTAC	0.622000													13	52					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	ENST00000403951.2	-	21	2230	c.1811A>G	c.(1810-1812)gAa>gGa	p.E604G	DGKB_ENST00000402815.1_Missense_Mutation_p.E603G|DGKB_ENST00000399322.3_Missense_Mutation_p.E604G|DGKB_ENST00000444700.2_Missense_Mutation_p.E585G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E604G|DGKB_ENST00000407950.1_Missense_Mutation_p.E596G|DGKB_ENST00000406247.3_Missense_Mutation_p.E604G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	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	ENST00000345088.2	+	2	274	c.157G>T	c.(157-159)Gtt>Ttt	p.V53F		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	53						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TAGCGAATCTGTTTCCCCTCT	0.468000													28	98					4.87955e-14	5.29308e-14	1	1	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	ENST00000407071.2	+	3	1270	c.830C>T	c.(829-831)gCg>gTg	p.A277V	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	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	ENST00000223398.6	+	14	3139	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q	CLIP2_ENST00000395060.1_Missense_Mutation_p.E938Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.E903Q	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	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
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	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	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).		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|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(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					3.86212e-05	3.9867e-05	1	1	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	ENST00000305768.4	-	12	1261	c.1173G>A	c.(1171-1173)atG>atA	p.M391I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	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	282					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	ENST00000296603.4	-	10	1594	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	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					6.33239e-15	6.98746e-15	1	1	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	ENST00000246080.3	-	1	559	c.399G>A	c.(397-399)tcG>tcA	p.S133S		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	133					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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	ENST00000212355.4	-	13	2350	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E629*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E628*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	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	coreceptor activity|heparin binding|PDZ domain binding|SMAD 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					0.00010058	0.000102176	1	1	0
CYP26A1	0	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	ENST00000371531.1	+	6	1295	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	CYP26A1_ENST00000224356.4_Missense_Mutation_p.R375Q|CYP26A1_ENST00000394139.1_Missense_Mutation_p.R306Q	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	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	ENST00000326291.6	+	2	425	c.87T>C	c.(85-87)gtT>gtC	p.V29V		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	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	ENST00000361246.2	-	24	3378	c.3090C>G	c.(3088-3090)atC>atG	p.I1030M		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	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
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	ENST00000262648.3	-	6	884	c.735C>T	c.(733-735)gaC>gaT	p.D245D		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	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(1)		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	ENST00000366835.3	-	3	361	c.91T>G	c.(91-93)Tat>Gat	p.Y31D		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	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
ZNF300P1	0	broad.mit.edu	37	5	150310592	150310592	+	RNA	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.chr5:150310592C>T	ENST00000520773.1	-	0	2729																											GTTGTTCTCCCGTGTGAATTC	0.438000													13	4					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	ENST00000340482.3	-	6	1213	c.1037G>T	c.(1036-1038)cGc>cTc	p.R346L	MPO_ENST00000225275.3_Missense_Mutation_p.R314L|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	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					3.83446e-41	4.38224e-41	1	1	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	ENST00000261405.5	-	35	6229	c.5975C>T	c.(5974-5976)gCc>gTc	p.A1992V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1992	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			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	ENST00000586600.1	+	11	1221	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.E240K			P13994	CC130_HUMAN	coiled-coil domain containing 130	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
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661272	22661272	+	RNA	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.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTGGGATGTACGTCTGCGTTG	0.488000													5	31					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	ENST00000231790.2	+	12	1501	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	MLH1_ENST00000435176.1_Missense_Mutation_p.E331K|MLH1_ENST00000536378.1_Missense_Mutation_p.E188K|MLH1_ENST00000455445.2_Missense_Mutation_p.E188K|MLH1_ENST00000539477.1_Missense_Mutation_p.E188K|MLH1_ENST00000458205.2_Missense_Mutation_p.E188K	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	429	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|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	ENST00000295321.4	-	3	899	c.640G>A	c.(640-642)Gag>Aag	p.E214K	IWS1_ENST00000455721.2_Missense_Mutation_p.E221K|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	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	ENST00000350721.4	-	47	7960	c.7839G>A	c.(7837-7839)ccG>ccA	p.P2613P	ATR_ENST00000383101.3_Silent_p.P2549P	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2613	FATC.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|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
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	ENST00000523189.1	+	22	2512	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	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	ENST00000368799.1	-	3	2767	c.2732C>T	c.(2731-2733)tCa>tTa	p.S911L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	911	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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	492					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	ENST00000275461.3	-	1	432	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	125	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			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	ENST00000255078.3	+	9	1427	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	439					cell death|DNA recombination|DNA repair|DNA replication|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|transcription factor binding|tRNA 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	ENST00000524558.1	+	5	2412	c.977T>G	c.(976-978)cTg>cGg	p.L326R	SERPINH1_ENST00000525876.1_Missense_Mutation_p.L109R|SERPINH1_ENST00000358171.3_Missense_Mutation_p.L326R|SERPINH1_ENST00000533603.1_Missense_Mutation_p.L326R			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	326					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	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
CTC-260F20.3	0	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	ENST00000555938.1	+	1	23	c.11C>T	c.(10-12)tCa>tTa	p.S4L	NDUFA13_ENST00000503283.1_Missense_Mutation_p.S4L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S87L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.S4L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.S4L																							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	ENST00000312053.4	+	13	1529	c.1492C>A	c.(1492-1494)Cac>Aac	p.H498N	EMR1_ENST00000250572.8_Missense_Mutation_p.H498N|EMR1_ENST00000450315.3_Missense_Mutation_p.H321N|EMR1_ENST00000381407.5_Missense_Mutation_p.H357N|EMR1_ENST00000381404.4_Missense_Mutation_p.H446N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	498	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			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					8.24728e-16	9.26011e-16	1	1	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	ENST00000308618.4	-	3	1545	c.1409A>T	c.(1408-1410)gAc>gTc	p.D470V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	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
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	ENST00000522917.1	+	7	730	c.524C>G	c.(523-525)cCt>cGt	p.P175R	FER1L6_ENST00000399018.1_Missense_Mutation_p.P175R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	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	ENST00000423345.4	-	7	2383	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	PRAM1_ENST00000255612.3_Silent_p.F620F			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	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
MT-ND5	4540	broad.mit.edu	37	MT	12618	12618	+	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.chrM:12618G>A	ENST00000361567.2	+	1	282	c.282G>A	c.(280-282)ttG>ttA	p.L94L				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	94					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CCTGTAGCATTGTTCGTTACA	0.378000													80	1					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	ENST00000599854.1	-	15	1962	c.1495G>C	c.(1495-1497)Gaa>Caa	p.E499Q	KANSL3_ENST00000441706.2_Missense_Mutation_p.E499Q|KANSL3_ENST00000440133.1_Missense_Mutation_p.E406Q|KANSL3_ENST00000431828.1_Missense_Mutation_p.E586Q|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	612																	TCTGGTGGTTCTGATGAAATG	0.498000													87	52					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	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|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 cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|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(21)|p.P179L(5)		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	42					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	ENST00000217939.6	-	6	6404	c.6250G>A	c.(6250-6252)Ggg>Agg	p.G2084R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	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	ENST00000263816.3	-	44	8672	c.8387G>A	c.(8386-8388)cGt>cAt	p.R2796H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2796	LDL-receptor class A 18.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			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	0	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	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													3	16					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	ENST00000335257.6	+	9	1149	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268I(2)		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	ENST00000367999.4	+	6	769	c.503G>A	c.(502-504)cGt>cAt	p.R168H	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R168H|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	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	ENST00000423345.4	-	2	657	c.137A>T	c.(136-138)aAg>aTg	p.K46M	PRAM1_ENST00000255612.3_Missense_Mutation_p.K46M			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	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	133					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	ENST00000420246.2	-	4	229		c.e4-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor 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	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		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					0.115264	0.115264	1	1	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	ENST00000273352.3	+	9	1231	c.963C>T	c.(961-963)tgC>tgT	p.C321C	GPR128_ENST00000475887.1_Silent_p.C26C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	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	ENST00000394236.3	-	12	1656	c.1340A>G	c.(1339-1341)gAt>gGt	p.D447G	PROS1_ENST00000407433.1_Missense_Mutation_p.D316G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	447	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			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
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	ENST00000492622.2	+	23	3226	c.2921G>T	c.(2920-2922)gGa>gTa	p.G974V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G974V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G918V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	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					1.87028e-06	1.96226e-06	1	1	0
ESPNP	0	broad.mit.edu	37	1	17034125	17034126	+	RNA	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	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													9	3	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		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.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	3	---	---	---	---					
AC019118.2	0	broad.mit.edu	37	2	2910722	2910723	+	RNA	INS	-	-	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.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708													7	7	---	---	---	---					
RP11-262H14.1	0	broad.mit.edu	37	9	66463991	66463992	+	RNA	DEL	TT	TT	-	rs3068011		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.chr9:66463991_66463992delTT	ENST00000424345.1	+	0	224																											AGCCATTCTCTTTTCATTCCCC	0.446													2	4	---	---	---	---					
KTN1-AS1	0	broad.mit.edu	37	14	56014174	56014174	+	RNA	DEL	G	G	-	rs72015246		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.chr14:56014174delG	ENST00000554558.1	-	0	364																											aaaaaaaaaagaaTTGGCACA	0.443													5	11	---	---	---	---					
RP5-991G20.1	0	broad.mit.edu	37	16	72763869	72763869	+	RNA	DEL	A	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.chr16:72763869delA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAA	0.433													3	5	---	---	---	---					
RP11-757O6.1	0	broad.mit.edu	37	18	14249606	14249609	+	RNA	DEL	ATAT	ATAT	-			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.chr18:14249606_14249609delATAT	ENST00000580200.1	+	0	271																											TTCTCATAAAATATATAACATTAC	0.216													2	4	---	---	---	---					
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	ENST00000426836.1	-	3	594_608	c.222_236delGTCGAAGTCCCTTCA	c.(220-237)cat>ca	p.QSKSLH74del	DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_In_Frame_Del_p.QSKSLH74del|DSN1_ENST00000373750.4_In_Frame_Del_p.QSKSLH74del|DSN1_ENST00000448110.1_In_Frame_Del_p.QSKSLH58del	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	74					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|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	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11071214	11071215	+	RNA	INS	-	-	C	rs113940337		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.chr21:11071214_11071215insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagaccaattagggcttcagg	0.406													2	4	---	---	---	---					
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	ENST00000398334.1	-	9	2214_2215	c.1947_1948insT	c.(1945-1950)ttcactfs	p.T650fs	FANCB_ENST00000324138.3_Frame_Shift_Ins_p.T650fs	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	650					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	ENST00000324545.7	+	28	4769_4770	c.4136_4137insA	c.(4135-4137)tagfs	p.*1379fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.*1379fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	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	---	---	---	---					
