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
HCFC1	3054	broad.mit.edu	37	X	153230117	153230117	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:153230117T>C	ENST00000310441.7	-	2	1220	c.254A>G	c.(253-255)tAt>tGt	p.Y85C	HCFC1_ENST00000354233.3_Missense_Mutation_p.Y85C|HCFC1_ENST00000369984.4_Missense_Mutation_p.Y85C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	85					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACGAAGCCATAGGCTGCACA	0.582000											OREG0003629	type=REGULATORY REGION|Gene=HCFC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	60	17					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816677	6816677	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:6816677C>G	ENST00000332601.3	-	1	451	c.263G>C	c.(262-264)gGa>gCa	p.G88A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGTTTGGATCCAACAAAGCC	0.463000													47	40					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000													5	131					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47614430	47614430	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr21:47614430C>T	ENST00000397728.3	-	20	2041	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	LSS_ENST00000522411.1_Missense_Mutation_p.A644T|LSS_ENST00000457828.2_Missense_Mutation_p.A575T|LSS_ENST00000356396.4_Missense_Mutation_p.A655T	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	655					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCCATCATGGCCCAGCATGTG	0.637000													22	31					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38851677	38851677	+	Missense_Mutation	SNP	A	A	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr6:38851677A>C	ENST00000359357.3	+	54	7765	c.7511A>C	c.(7510-7512)aAg>aCg	p.K2504T	DNAH8_ENST00000441566.1_Missense_Mutation_p.K2468T|DNAH8_ENST00000449981.2_Missense_Mutation_p.K2721T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACGTGGATAAGCGAATTGGA	0.363000													27	101					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196714954	196714954	+	Silent	SNP	A	A	G	rs1137971		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:196714954A>G	ENST00000367429.4	+	21	3558	c.3318A>G	c.(3316-3318)acA>acG	p.T1106T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1106					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAGATTCTACAGGAAAATGTG	0.393000													5	158					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													9	97					0	0	1	0	0
AL021546.6	0	broad.mit.edu	37	12	120876300	120876300	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:120876300C>T	ENST00000551806.1	+	2	151	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	COX6A1_ENST00000229379.2_Silent_p.Y74Y																							TCATCGCCTACCCCCATCTCC	0.547000													74	71					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880633	42880633	+	Silent	SNP	A	A	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:42880633A>G	ENST00000334370.4	+	41	8678	c.8043A>G	c.(8041-8043)ggA>ggG	p.G2681G	MEGF8_ENST00000378073.4_Silent_p.G342G|MEGF8_ENST00000251268.6_Silent_p.G2748G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2748						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GACCCATGGGAGGGGGCTGCT	0.721000													5	8					0	0	1	0	0
LCE2C	353140	broad.mit.edu	37	1	152648727	152648727	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:152648727G>A	ENST00000368783.1	+	2	291	c.236G>A	c.(235-237)cGt>cAt	p.R79H	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	79	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGGCCCCGTCTCTTCCAC	0.682000													127	132					0	0	1	0	0
PGAM1	5223	broad.mit.edu	37	10	99190370	99190370	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:99190370C>T	ENST00000334828.5	+	2	522	c.374C>T	c.(373-375)cCg>cTg	p.P125L	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	125	Pro-rich.				gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CCACCACCTCCGATGGAGCCC	0.527000													20	84					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109583	64109583	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:64109583G>A	ENST00000356786.5	+	8	837	c.793G>A	c.(793-795)Gct>Act	p.A265T	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	265					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAACGCCAAGGCTCAGCTGCG	0.677000													17	9					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63974461	63974461	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974461G>C	ENST00000324472.4	-	19	2064	c.1881C>G	c.(1879-1881)atC>atG	p.I627M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I74M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	627					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TACTGTATTTGATCCACTGTA	0.318000													20	100					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68204156	68204156	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr8:68204156T>C	ENST00000262215.3	-	6	1231	c.842A>G	c.(841-843)gAg>gGg	p.E281G		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	281					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTTTCAGGCTCTGTGTCATC	0.423000													43	53					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74336610	74336610	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr15:74336610G>C	ENST00000565898.1	+	8	1850	c.1766G>C	c.(1765-1767)cGc>cCc	p.R589P	PML_ENST00000268058.3_Missense_Mutation_p.R637P			P29590	PML_HUMAN	promyelocytic leukemia	637					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAAGTTCCGCGTGGTCATC	0.612000			T	"""RARA, PAX5"""	"""APL, ALL"""								25	94					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35804291	35804291	+	Silent	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:35804291G>T	ENST00000392213.3	+	11	1974	c.1815G>T	c.(1813-1815)cgG>cgT	p.R605R	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Silent_p.R580R	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	605					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGGGAAACGGCCCACCAAGG	0.642000													105	72					1.21621e-70	1.38995e-70	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102455116	102455116	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:102455116A>G	ENST00000360184.4	+	10	2959	c.2795A>G	c.(2794-2796)gAt>gGt	p.D932G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	932	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAAGCTGAAGATAAAGCAGAA	0.458000													43	30					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67040714	67040714	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:67040714G>A	ENST00000326686.5	+	13	1511	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CES4A_ENST00000397205.2_Intron|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000338718.4_Intron			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	504						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AACTTTGCCCGCACAGGGTGA	0.567000													5	176					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094680	72094680	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:72094680C>G	ENST00000355906.5	+	7	1170	c.1112C>G	c.(1111-1113)gCg>gGg	p.A371G	HP_ENST00000570083.1_Missense_Mutation_p.A312G|HP_ENST00000565574.1_Missense_Mutation_p.A312G|HP_ENST00000398131.2_Missense_Mutation_p.A312G|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	371	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACCTGGTATGCGACTGGGATC	0.522000													38	153					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116593798	116593798	+	Silent	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:116593798C>T	ENST00000410059.1	+	22	2496	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	DPP10_ENST00000393147.2_Silent_p.S676S|DPP10_ENST00000409163.1_Silent_p.S622S|DPP10_ENST00000310323.8_Silent_p.S665S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	672					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATGTGGATCCGTGGTTGCAC	0.328000													8	20					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123810033	123810033	+	Silent	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:123810033G>T	ENST00000369005.1	+	3	454	c.114G>T	c.(112-114)acG>acT	p.T38T	TACC2_ENST00000515273.1_Silent_p.T38T|TACC2_ENST00000453444.2_Silent_p.T38T|TACC2_ENST00000334433.3_Silent_p.T38T|TACC2_ENST00000515603.1_Silent_p.T38T|TACC2_ENST00000358010.1_Silent_p.T38T|TACC2_ENST00000513429.1_Silent_p.T38T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	38						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGGACACGCCCGGAAGCC	0.577000													21	31					2.4624e-09	2.56946e-09	1	1	0
THAP3	90326	broad.mit.edu	37	1	6692465	6692465	+	Silent	SNP	G	G	A	rs146637042	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:6692465G>A	ENST00000377627.3	+	4	396	c.369G>A	c.(367-369)gcG>gcA	p.A123A	THAP3_ENST00000307896.6_Silent_p.A115A|THAP3_ENST00000054650.4_Silent_p.A116A	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	116							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTGAGGCGGGGGCCGGAG	0.597000													5	65					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132405699	132405699	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:132405699C>T	ENST00000321867.4	+	27	3367	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C	ULK1_ENST00000540647.1_Missense_Mutation_p.R251C	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1006					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.R1006C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTGCGTCCCACGCTACCACAA	0.672000													20	39					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964902	70964902	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr6:70964902G>T	ENST00000357250.6	-	23	1720	c.1562C>A	c.(1561-1563)gCt>gAt	p.A521D	COL9A1_ENST00000370499.4_Missense_Mutation_p.A278D|COL9A1_ENST00000320755.7_Missense_Mutation_p.A278D|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	521	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCACCTTCAGCCCCCTGCAG	0.448000													7	128					0.00198382	0.00198382	1	1	0
ZNF407	55628	broad.mit.edu	37	18	72343750	72343750	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr18:72343750T>A	ENST00000299687.5	+	1	775	c.775T>A	c.(775-777)Ttg>Atg	p.L259M	ZNF407_ENST00000309902.6_Missense_Mutation_p.L259M|ZNF407_ENST00000577538.1_Missense_Mutation_p.L259M|ZNF407_ENST00000582337.1_Missense_Mutation_p.L259M	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAAAACTTGTTGAATGCACA	0.413000													39	58					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8157385	8157385	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:8157385G>A	ENST00000314666.6	+	2	263	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	44					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGCTACAACGTGAACTGGAC	0.602000													47	63					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	rs62556589		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423000													3	20					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282485	59282485	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:59282485G>T	ENST00000329328.3	+	1	100	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCTGTTTTTGGTGTACATGAC	0.438000													50	101					1.47099e-08	1.51302e-08	1	1	0
TP53	7157	broad.mit.edu	37	17	7578236	7578236	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:7578236A>T	ENST00000420246.2	-	6	745	c.613T>A	c.(613-615)Tat>Aat	p.Y205N	TP53_ENST00000455263.2_Missense_Mutation_p.Y205N|TP53_ENST00000359597.4_Missense_Mutation_p.Y205N|TP53_ENST00000269305.4_Missense_Mutation_p.Y205N|TP53_ENST00000413465.2_Missense_Mutation_p.Y205N|TP53_ENST00000445888.2_Missense_Mutation_p.Y205N|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)		TCATCCAAATACTCCACACGC	0.542000		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)			46	6					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32409007	32409007	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr18:32409007C>T	ENST00000315456.6	+	13	1421	c.1097C>T	c.(1096-1098)tCg>tTg	p.S366L	DTNA_ENST00000399121.5_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000399113.3_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.S363L|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000601125.1_Intron	NM_001392.4	NP_001383.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	366					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CATTTCAGCTCGGACGGTGCT	0.398000													23	28					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648275	62648275	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:62648275T>G	ENST00000337910.5	-	6	1488	c.1151A>C	c.(1150-1152)gAa>gCa	p.E384A	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E384A	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	384	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GACTTGCATTTCCCTGTGCAT	0.572000													42	1867					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61447758	61447758	+	Translation_Start_Site	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:61447758G>C	ENST00000261249.6	-	0	318				RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5							cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CTCCGGTACCGATCGGATGTG	0.637000													33	26					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102046898	102046898	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:102046898C>A	ENST00000549145.1	+	17	1703	c.1603C>A	c.(1603-1605)Cct>Act	p.P535T	MYBPC1_ENST00000545503.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P423T|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P510T|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P503T|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P508T|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P496T|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P509T|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P522T			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	522	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTAGATCCTCCTAAGATCAT	0.413000													24	18					5.45024e-15	6.03719e-15	1	1	0
DNAJA2	10294	broad.mit.edu	37	16	46993254	46993254	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:46993254G>A	ENST00000317089.5	-	7	1067	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	284					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GCTTAAATGTGAACTGAAATC	0.368000													45	46					0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105657468	105657468	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:105657468G>A	ENST00000224950.3	-	7	758	c.591C>T	c.(589-591)ggC>ggT	p.G197G	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.G197G	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	197					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTCCAGGGCGCCTGGATTGC	0.453000													31	109					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63188798	63188798	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:63188798G>T	ENST00000399298.3	-	4	859	c.491C>A	c.(490-492)cCc>cAc	p.P164H	TMEM26_ENST00000399293.1_Missense_Mutation_p.P164H	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	164						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCTCCAATGGGTAGAAGCCA	0.423000													25	831					1.1804e-14	1.28771e-14	1	1	0
GABPA	2551	broad.mit.edu	37	21	27141432	27141432	+	Silent	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr21:27141432C>T	ENST00000354828.3	+	10	1781	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	GABPA_ENST00000400075.3_Silent_p.V418V	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	418					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ACCGTTTGGTCACAGAATGTG	0.443000													35	114					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80476008	80476008	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr5:80476008G>A	ENST00000265080.4	+	18	2768	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	901					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TAACAACACCGAGAGAACATG	0.443000													22	107					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418348	48418348	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:48418348C>A	ENST00000376771.4	+	6	1393	c.1052C>A	c.(1051-1053)gCc>gAc	p.A351D	TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Missense_Mutation_p.A97D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	351	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.A351G(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAGGGCCATGCCTTTGTTTGC	0.582000													27	10					9.86323e-18	1.10961e-17	1	1	0
FRG1B	0	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													4	64					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32963037	32963037	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:32963037G>A	ENST00000321639.5	+	9	2047	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	573						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGTGTCTCCGCTGACGGAGG	0.652000													8	7					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63974572	63974572	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974572G>C	ENST00000324472.4	-	19	1953	c.1770C>G	c.(1768-1770)atC>atG	p.I590M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	590					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGCCAAAGATAACCTTCT	0.373000													18	77					0	0	1	0	0
HSPB1	3315	broad.mit.edu	37	7	75933345	75933345	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr7:75933345C>T	ENST00000248553.6	+	3	642	c.473C>T	c.(472-474)tCc>tTc	p.S158F	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	158	Interaction with TGFB1I1 (By similarity).				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding			large_intestine(1)|lung(3)	4						TCCTCCCTGTCCCCTGAGGGC	0.637000													14	43					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													10	97					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256296	69256296	+	Nonsense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:69256296G>C	ENST00000439696.2	-	2	1272	c.971C>G	c.(970-972)tCa>tGa	p.S324*	ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.S324*|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	324					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGGCGTCTTGAGTTGTCCAA	0.607000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	104	86					0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103190192	103190192	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:103190192G>A	ENST00000370187.3	+	2	257	c.139G>A	c.(139-141)Gca>Aca	p.A47T	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.A32T	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AGGGACTGGCGCACTCACAGC	0.537000													26	42					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													3	29					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240661	39240661	+	Missense_Mutation	SNP	C	C	G	rs11650484	by1000genomes	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:39240661C>G	ENST00000391417.4	+	1	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCGCCCCACCTGCTGTGAG	0.657000													4	72					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60694716	60694716	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:60694716G>A	ENST00000005286.4	+	2	294	c.141G>A	c.(139-141)ccG>ccA	p.P47P	TMEM132A_ENST00000453848.2_Silent_p.P47P	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	47						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCTACCTGCCGGCAGCCCTGG	0.632000													31	103					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50723042	50723042	+	Splice_Site	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:50723042C>A	ENST00000404971.1	-	16	4530		c.e16+1		NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000401710.1_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATGCACTTACTCTTGAGGTC	0.473000													18	7					2.35188e-11	2.52739e-11	1	1	0
SDHAP1	0	broad.mit.edu	37	3	195692349	195692349	+	RNA	SNP	T	T	A	rs139762755	by1000genomes	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr3:195692349T>A	ENST00000427841.1	-	0	2153					NR_003264.2																						CCTCCAGTGCTCCTCAAAGGG	0.572000													5	67					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803490	142803490	+	RNA	SNP	T	T	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:142803490T>G	ENST00000423385.1	-	0	1475																											TTCTGTACATTTATTATTGAT	0.323000													18	73					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58489052	58489052	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:58489052C>A	ENST00000357552.3	-	12	1033	c.808G>T	c.(808-810)Ggc>Tgc	p.G270C	SYCP2_ENST00000371001.2_Missense_Mutation_p.G270C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	270					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CCAAGCATGCCATTTACAAGG	0.299000													10	10					2.74318e-10	2.90454e-10	1	1	0
COPB1	1315	broad.mit.edu	37	11	14490350	14490350	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:14490350C>T	ENST00000249923.3	-	16	2322	c.2022G>A	c.(2020-2022)atG>atA	p.M674I	COPB1_ENST00000439561.2_Missense_Mutation_p.M674I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	674					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGTTAGTTGCATGAAGGAAA	0.398000													37	147					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833004	130833004	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:130833004C>T	ENST00000357462.5	-	15	2134	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Missense_Mutation_p.E681K|POTEF_ENST00000360967.5_3'UTR			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	681						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTCACACTTTCAATATCCTCC	0.398000													35	37					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63974520	63974520	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974520G>C	ENST00000324472.4	-	19	2005	c.1822C>G	c.(1822-1824)Caa>Gaa	p.Q608E	DPY19L2_ENST00000413230.2_Missense_Mutation_p.Q55E	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	608					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGCTCCATTGATTACGGAGG	0.373000													15	93					0	0	1	0	0
PI4KAP1	0	broad.mit.edu	37	22	20385733	20385733	+	RNA	SNP	A	A	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr22:20385733A>G	ENST00000430523.3	-	0	2078					NR_003563.1																						TACTTCAAGAACTTGATTGTC	0.537000													3	39					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78362441	78362441	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:78362441G>A	ENST00000397909.2	+	5	803	c.630G>A	c.(628-630)tcG>tcA	p.S210S	NAV3_ENST00000536525.2_Silent_p.S210S|NAV3_ENST00000228327.6_Silent_p.S210S|NAV3_ENST00000266692.7_Silent_p.S210S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	210			S -> W (in dbSNP:rs34195711).			nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCCTCCATCGGAAGCCAGCC	0.458000										HNSCC(70;0.22)			18	34					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38633333	38633333	+	Nonsense_Mutation	SNP	C	C	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:38633333C>G	ENST00000222345.6	+	12	4025	c.3516C>G	c.(3514-3516)taC>taG	p.Y1172*		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1172					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGTGAGATACAAGCCATCCC	0.567000											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	322	248					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877743	76877743	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:76877743G>C	ENST00000328299.3	+	3	412	c.264G>C	c.(262-264)caG>caC	p.Q88H	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	88					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACTCAGGTCAGATGGTTGGCC	0.443000													31	30					0	0	1	0	0
MYCL	4610	broad.mit.edu	37	1	40366682	40366684	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:40366682_40366684delGGC	ENST00000397332.2	-	2	637_639	c.513_515delGCC	c.(511-516)gcc>gc	p.AP171del	MYCL_ENST00000429311.1_In_Frame_Del_p.AP141del|MYCL_ENST00000372815.1_In_Frame_Del_p.AP171del|MYCL_ENST00000372816.2_In_Frame_Del_p.AP141del	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		GGGGGCGGCGGGCGCCGGGTTGC	0.749													2	4	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)gtc>TCCgtc	p.3631_3632insS	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	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)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis				9	1290	---	---	---	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)del	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													8	150	---	---	---	---					
RP11-615J4.3	0	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													4	7	---	---	---	---					
AC007255.7	0	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366					NR_024278.1																						CTCTCAGATCAGTGATGCCCTG	0.485													12	34	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149516839	149516839	+	RNA	DEL	C	C	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr7:149516839delC	ENST00000378016.2	+	0	12041							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGTCCCTGGTCCTGGTGTGAC	0.697													6	1	---	---	---	---					
CELP	0	broad.mit.edu	37	9	135962494	135962494	+	RNA	DEL	C	C	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr9:135962494delC	ENST00000411440.2	+	0	1001					NR_001275.2																						TCTGAGGCTGCCCCCGTGTCC	0.677													3	3	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81067245	81067245	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:81067245delC	ENST00000334512.5	+	23	3324	c.2752delC	c.(2752-2754)ccfs	p.P919fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.P72fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	919	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CATGCACGGGCCCCCCCAGCT	0.597													7	571	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													15	1209	---	---	---	---					
F2	2147	broad.mit.edu	37	11	46740793	46740794	+	Frame_Shift_Ins	INS	-	-	CGTC			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:46740793_46740794insCGTC	ENST00000311907.5	+	1	64_65	c.8_9insCGTC	c.(7-9)cgtfs	p.R3fs	F2_ENST00000530231.1_Frame_Shift_Ins_p.R3fs	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	3					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACTATGGCGCACGTCCGAGGCT	0.579													39	10	---	---	---	---					
OTX2-AS1	0	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													3	6	---	---	---	---					
CHEK2P2	0	broad.mit.edu	37	15	20490835	20490835	+	RNA	DEL	G	G	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr15:20490835delG	ENST00000555186.1	+	0	568					NR_038836.1																						tctgcaccctgggttcaagtg	0.463													3	5	---	---	---	---					
ANP32BP1	0	broad.mit.edu	37	15	75614966	75614987	+	RNA	DEL	GGCGGCGCGGTCCTGGGTGGCG	GGCGGCGCGGTCCTGGGTGGCG	-	rs115991344	by1000genomes	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr15:75614966_75614987delGGCGGCGCGGTCCTGGGTGGCG	ENST00000564205.1	-	0	47_68																											GGCAGAGGCCGGCGGCGCGGTCCTGGGTGGCGGGCGGCGTGG	0.577													2	4	---	---	---	---					
CTB-91J4.1	0	broad.mit.edu	37	17	34445620	34445621	+	RNA	INS	-	-	G	rs138115784		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:34445620_34445621insG	ENST00000592460.1	+	0	41																											TGCCCCCCACCCCCCCACCCCC	0.609													4	9	---	---	---	---					
WFDC8	90199	broad.mit.edu	37	20	44180764	44180764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:44180764delG	ENST00000357199.4	-	6	705	c.627delC	c.(625-627)acfs	p.T209fs	WFDC8_ENST00000289953.2_Frame_Shift_Del_p.T209fs	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	209	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TATCAATCTTGGTACATAGCA	0.433													56	68	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411													6	4	---	---	---	---