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	uc004fjp.3	-	1	782	c.254A>G	c.(253-255)tAt>tGt	p.Y85C		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	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	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	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	uc001mes.1	-	0	463	c.263G>C	c.(262-264)gGa>gCa	p.G88A		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	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	284802	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	uc010ztl.1	+	2	226	c.194G>A	c.(193-195)gGg>gAg	p.G65E	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.G17E					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I64T(2)		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	uc002zij.3	-	19	2042	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	LSS_uc002zil.2_Missense_Mutation_p.A655T|LSS_uc011afv.1_Missense_Mutation_p.A644T|LSS_uc002zik.2_Missense_Mutation_p.A575T	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	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	uc021yzh.1	+	55	8271	c.8162A>C	c.(8161-8163)aAg>aCg	p.K2721T	DNAH8_uc003ooe.2_Missense_Mutation_p.K2504T	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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	uc001gtj.4	+	20	3558	c.3318A>G	c.(3316-3318)acA>acG	p.T1106T	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	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
ANKRD20A2	441430	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	uc010fhp.3	-	0		c.35A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.K44K(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGGCGTCGCCTTTGACAGCTG	0.687000													9	97					0	0	1	0	0
COX6A1	1337	broad.mit.edu	37	12	120876300	120876300	+	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.chr12:120876300C>T	uc001tyf.1	+	1	248	c.222C>T	c.(220-222)taC>taT	p.Y74Y		NM_004373	NP_004364	P12074	CX6A1_HUMAN	Homo sapiens cytochrome c oxidase subunit VIa polypeptide 1 (COX6A1), nuclear gene encoding mitochondrial protein, mRNA.	74					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					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	uc002otl.4	+	40	8678	c.8043A>G	c.(8041-8043)ggA>ggG	p.G2681G	MEGF8_uc002otm.4_Silent_p.G2289G|MEGF8_uc002otn.4_Silent_p.G342G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	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	uc021ozc.1	+	0	236	c.236G>A	c.(235-237)cGt>cAt	p.R79H	LCE2C_uc001fah.3_Missense_Mutation_p.R79H	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	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	uc001knh.3	+	1	412	c.374C>T	c.(373-375)cCg>cTg	p.P125L	PGAM1_uc010qov.2_Missense_Mutation_p.P110L	NM_002629	NP_002620	P18669	PGAM1_HUMAN	Homo sapiens phosphoglycerate mutase 1 (brain) (PGAM1), mRNA.	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	uc001nzy.3	+	7	842	c.793G>A	c.(793-795)Gct>Act	p.A265T	CCDC88B_uc009ypo.2_Missense_Mutation_p.A262T|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	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	uc001srp.1	-	18	2062	c.1881C>G	c.(1879-1881)atC>atG	p.I627M	DPY19L2_uc010sso.1_Missense_Mutation_p.I74M	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	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	uc003xxo.2	-	5	1232	c.842A>G	c.(841-843)gAg>gGg	p.E281G		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	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	uc002awv.3	+	8	2050	c.1910G>C	c.(1909-1911)cGc>cCc	p.R637P	PML_uc002awu.3_Missense_Mutation_p.R589P|PML_uc010ule.2_Missense_Mutation_p.R198P	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	637					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|PML body organization|cell cycle arrest|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|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	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|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	uc002nyy.2	+	10	2013	c.1815G>T	c.(1813-1815)cgG>cgT	p.R605R	MAG_uc002nyx.2_3'UTR|MAG_uc010eds.2_Silent_p.R580R|MAG_uc002nyz.2_Silent_p.R605R	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	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					0	0	1	0	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	uc001yks.2	+	9	2959	c.2795A>G	c.(2794-2796)gAt>gGt	p.D932G		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	932	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|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	uc002eqv.3	+	10	1485	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H	CES4A_uc010vix.2_Intron|CES4A_uc002eqw.3_Intron|CES4A_uc010viy.2_Intron|CES4A_uc002eqx.3_Missense_Mutation_p.R310H|CES4A_uc002eqy.3_Missense_Mutation_p.R406H	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	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	uc002fbr.4	+	6	1156	c.1112C>G	c.(1111-1113)gCg>gGg	p.A371G	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Missense_Mutation_p.A312G|HP_uc021tld.1_Missense_Mutation_p.A312G|HP_uc002fbt.4_Missense_Mutation_p.A312G|HPR_uc002fby.3_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	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	p.A371A(1)		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	uc002tle.3	+	21	2049	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	DPP10_uc002tla.2_Silent_p.S672S|DPP10_uc002tlb.2_Silent_p.S622S|DPP10_uc002tlc.2_Silent_p.S668S|DPP10_uc002tlf.2_Silent_p.S665S	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	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	uc001lfv.3	+	2	474	c.114G>T	c.(112-114)acG>acT	p.T38T	TACC2_uc001lfw.3_Silent_p.T38T|TACC2_uc009xzx.3_Silent_p.T38T|TACC2_uc010qtv.2_Silent_p.T38T	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	38						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.T38M(1)		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					0	0	1	0	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	uc001aoc.3	+	4	507	c.348G>A	c.(346-348)gcG>gcA	p.A116A	THAP3_uc001aod.3_Silent_p.A115A|THAP3_uc001aoe.2_Silent_p.A123A	NM_001195753	NP_001182682	Q8WTV1	THAP3_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA.	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	uc001uje.3	+	26	3284	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	1006					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.R1006C(2)		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	uc003pfg.4	-	22	1721	c.1562C>A	c.(1561-1563)gCt>gAt	p.A521D	COL9A1_uc003pfe.4_Missense_Mutation_p.A94D|COL9A1_uc003pff.4_Missense_Mutation_p.A278D	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	521	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G520E(1)		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	0	1	0	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	uc002llw.2	+	0	828	c.775T>A	c.(775-777)Ttg>Atg	p.L259M	ZNF407_uc010xfc.2_Missense_Mutation_p.L259M|ZNF407_uc010dqu.2_Missense_Mutation_p.L259M|ZNF407_uc002llu.2_Missense_Mutation_p.L258M	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	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	59					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	uc002gkr.3	+	1	271	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	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
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	uc010rkv.2	+	0	100	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	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					0	0	1	0	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	uc002gim.2	-	5	807	c.613T>A	c.(613-615)Tat>Aat	p.Y205N	TP53_uc002gig.1_Missense_Mutation_p.Y205N|TP53_uc002gih.3_Missense_Mutation_p.Y205N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y73N|TP53_uc010cnf.1_Missense_Mutation_p.Y73N|TP53_uc002gii.1_Missense_Mutation_p.Y73N|TP53_uc010cni.1_Missense_Mutation_p.Y205N|TP53_uc010cnh.1_Missense_Mutation_p.Y205N|TP53_uc002gij.2_Missense_Mutation_p.Y205N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112N|TP53_uc002gio.2_Missense_Mutation_p.Y73N|TP53_uc010vug.2_Missense_Mutation_p.Y166N|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(59)|p.Y205D(27)|p.E204*(27)|p.Y205H(13)|p.Y205S(12)|p.Y205N(12)|p.Y205F(8)|p.0?(8)|p.?(5)|p.Y205*(4)|p.E204fs*5(3)|p.E204fs*43(3)|p.Y205fs*42(2)|p.Y205fs*43(2)|p.E204fs*39(2)|p.E204_N210delEYLDDRN(2)|p.Y73N(2)|p.Y112N(2)|p.E204K(2)|p.E204G(2)|p.E204D(2)|p.E204E(2)|p.K164_P219del(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.G199fs*42(1)|p.V203_E204>LV(1)|p.E204A(1)|p.E204V(1)|p.E204Q(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
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	uc001jli.3	-	6	1589	c.1151A>C	c.(1150-1152)gAa>gCa	p.E384A	RHOBTB1_uc009xpe.2_Missense_Mutation_p.E322A|RHOBTB1_uc001jlh.3_Missense_Mutation_p.E384A|RHOBTB1_uc001jlj.3_Missense_Mutation_p.E384A|RHOBTB1_uc001jlk.3_Missense_Mutation_p.E384A	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	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
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	uc001tii.3	+	15	1704	c.1564C>A	c.(1564-1566)Cct>Act	p.P522T	MYBPC1_uc001tig.3_Missense_Mutation_p.P547T|MYBPC1_uc010svr.2_Missense_Mutation_p.P522T|MYBPC1_uc010svs.2_Missense_Mutation_p.P522T|MYBPC1_uc001tij.3_Missense_Mutation_p.P522T|MYBPC1_uc010svt.2_Missense_Mutation_p.P510T|MYBPC1_uc010svu.2_Missense_Mutation_p.P503T|MYBPC1_uc001tik.3_Missense_Mutation_p.P496T|MYBPC1_uc001tih.3_Missense_Mutation_p.P547T|MYBPC1_uc010svq.2_Missense_Mutation_p.P509T	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	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					0	0	1	0	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	uc002eeo.2	-	6	994	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	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	uc001kxl.3	-	5	666	c.591C>T	c.(589-591)ggC>ggT	p.G197G	OBFC1_uc001kxm.3_Silent_p.G197G	NM_024928	NP_079204	Q9H668	STN1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA.	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	110					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	uc001jlo.2	-	3	860	c.491C>A	c.(490-492)cCc>cAc	p.P164H	TMEM26_uc001jlq.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	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	832					0	0	1	0	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	uc002ylx.4	+	9	1404	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	GABPA_uc002yly.4_Silent_p.V418V	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	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	uc003kha.2	+	17	2751	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	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	Rho guanyl-nucleotide exchange factor activity|protein binding			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	108					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	uc011mmb.1	+	5	1150	c.1064C>A	c.(1063-1065)gCc>gAc	p.A355D	TBC1D25_uc004dka.1_Missense_Mutation_p.A351D|TBC1D25_uc011mly.1_Missense_Mutation_p.A293D|TBC1D25_uc004dkb.1_Missense_Mutation_p.A97D|TBC1D25_uc011mlz.1_Missense_Mutation_p.A97D|TBC1D25_uc011mma.1_Missense_Mutation_p.A97D|TBC1D25_uc004dkc.1_Missense_Mutation_p.A97D|TBC1D25_uc011mmd.1_Missense_Mutation_p.A97D|TBC1D25_uc011mmc.1_Missense_Mutation_p.A97D	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	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					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	38799	38799	+	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.chrGL000218.1:38799T>C	uc011mfn.2	-	4	753	c.664A>G	c.(664-666)Att>Gtt	p.I222V	LOC100233156_uc003jah.2_3'UTR					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		AGAAAGCTAATGCACTGTTTA	0.592000													2	1					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	uc002hif.3	+	8	2047	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	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	uc001srp.1	-	18	1951	c.1770C>G	c.(1768-1770)atC>atG	p.I590M	DPY19L2_uc010sso.1_Missense_Mutation_p.I37M	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	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	uc003uew.3	+	2	628	c.473C>T	c.(472-474)tCc>tTc	p.S158F	HSPB1_uc010ldj.2_Non-coding_Transcript|AX747594_uc003uey.1_5'Flank	NM_001540	NP_001531	P04792	HSPB1_HUMAN	Homo sapiens heat shock 27kDa protein 1 (HSPB1), mRNA.	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
ANKRD20A2	441430	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	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						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	uc021rve.1	-	2	1272	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*	ZFP36L1_uc001xki.2_Nonsense_Mutation_p.S324*|ZFP36L1_uc001xkh.2_Nonsense_Mutation_p.S324*	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	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	uc001kta.3	+	1	252	c.139G>A	c.(139-141)Gca>Aca	p.A47T	BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.3_Intron|BTRC_uc001ktc.3_Missense_Mutation_p.A47T	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	47					Wnt receptor signaling pathway|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	SCF ubiquitin ligase complex|cytosol|nucleus		p.G46G(1)		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
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	uc010wfn.2	+	0	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											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	uc001nqi.3	+	1	334	c.141G>A	c.(139-141)ccG>ccA	p.P47P	TMEM132A_uc001nqj.3_Silent_p.P47P|TMEM132A_uc001nqk.3_Silent_p.P60P|TMEM132A_uc001nql.1_Silent_p.P60P	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	47						Golgi membrane|endoplasmic reticulum 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													32	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	uc021vhh.1	-	14	3991	c.3070_splice	c.e14+1	p.S1024_splice	NRXN1_uc002rxb.4_Splice_Site_p.S696_splice|NRXN1_uc021vhg.1_Splice_Site_p.S1064_splice|NRXN1_uc021vhi.1_Splice_Site_p.S1060_splice|NRXN1_uc021vhj.1_Splice_Site_p.S1020_splice|NRXN1_uc002rxc.1_Splice_Site	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1024	Laminin G-like 5.				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					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195692349	195692349	+	Missense_Mutation	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	uc003fvy.3	-	2	308	c.194A>T	c.(193-195)gAg>gTg	p.E65V	SDHAP1_uc003fvx.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		CCTCCAGTGCTCCTCAAAGGG	0.572000													5	67					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	uc002yaz.3	-	10	947	c.808G>T	c.(808-810)Ggc>Tgc	p.G270C	SYCP2_uc010gju.1_Missense_Mutation_p.G171C	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	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					0	0	1	0	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	uc001mlh.2	-	15	2268	c.2022G>A	c.(2020-2022)atG>atA	p.M674I	COPB1_uc001mli.2_Missense_Mutation_p.M674I|COPB1_uc001mlg.2_Missense_Mutation_p.M674I	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	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|ER-Golgi intermediate compartment|cytosol|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	uc010fmh.2	-	16	2441	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	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													36	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	uc001srp.1	-	18	2003	c.1822C>G	c.(1822-1824)Caa>Gaa	p.Q608E	DPY19L2_uc010sso.1_Missense_Mutation_p.Q55E	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	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	728233	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	uc010gsf.1	-	12		c.2078T>C			PI4KAP1_uc010gsg.2_Non-coding_Transcript					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 (PI4KAP1), non-coding RNA.																		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	uc001syp.3	+	4	803	c.630G>A	c.(628-630)tcG>tcA	p.S210S	NAV3_uc001syo.3_Silent_p.S210S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	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	uc002ohk.3	+	11	4025	c.3516C>G	c.(3514-3516)taC>taG	p.Y1172*		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	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	uc001dhh.2	+	2	427	c.264G>C	c.(262-264)caG>caC	p.Q88H	ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.Q88H|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.Q23H	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	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
MYCL1	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	uc001cer.2	-	1	640_642	c.513_515delGCC	c.(511-516)gcgccc>gcc	p.P172del	MYCL1_uc001ces.2_In_Frame_Del_p.P142del|MYCL1_uc001cet.2_In_Frame_Del_p.P172del	NM_001033082	NP_001028253	P12524	MYCL1_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA.	142						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			liver(1)|lung(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGGGCGGCGGGCGCCGGGTTGC	0.749			A		small cell lung								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	uc001ezu.1	-	2	10930_10931	c.10894_10895insTCC	c.(10894-10896)cag>cTCCag	p.3631_3632insL		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	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	1291	---	---	---	---					
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	uc001gbv.2	+	7	1288_1290	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase 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	151	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149516839	149516839	+	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.chr7:149516839delC	uc010lpk.3	+	84	12032	c.12032delC	c.(12031-12033)tccfs	p.S4011fs	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4014	TSP type-1 18.				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	---	---	---	---					
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	uc001kaf.2	+	22	3324	c.2752delC	c.(2752-2754)cccfs	p.P918fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.P794fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.P71fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	918	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	573	---	---	---	---					
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	uc001kaf.2	+	23	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_uc001kag.2_In_Frame_Del_p.P862del|ZMIZ1_uc010qlq.1_Intron	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	986	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	uc001ndf.4	+	0	51_52	c.8_9insCGTC	c.(7-9)cacfs	p.H3fs		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	3					STAT protein import into nucleus|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|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|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	---	---	---	---					
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	uc002xow.3	-	5	706	c.627delC	c.(625-627)accfs	p.T209fs	WFDC8_uc002xox.3_Frame_Shift_Del_p.T209fs	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	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	---	---	---	---					
