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
SMPDL3A	10924	broad.mit.edu	37	6	123127429	123127429	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:123127429G>A	uc003pzg.3	+	6	1492	c.971G>A	c.(970-972)aGt>aAt	p.S324N	SMPDL3A_uc003pzh.3_Missense_Mutation_p.S193N	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3A (SMPDL3A), mRNA.	324					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	p.S324N(2)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CCAGTGAAGAGTGTTTTAGAA	0.358000													14	124					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48202015	48202015	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:48202015C>T	uc002phh.4	+	11	3567	c.3373C>T	c.(3373-3375)Ccc>Tcc	p.P1125S	GLTSCR1_uc002phi.4_Missense_Mutation_p.P883S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	1125							protein binding	p.P1125S(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGGCGCCCTCCCCTCCCCCAG	0.682000											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101938639	101938639	+	Silent	SNP	A	A	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr15:101938639A>C	uc002bxa.2	-	7	1277	c.963T>G	c.(961-963)gcT>gcG	p.A321A	PCSK6_uc010bpd.3_Silent_p.A192A|PCSK6_uc002bwy.3_Silent_p.A321A|PCSK6_uc010bpe.3_Silent_p.A318A|PCSK6_uc002bxb.2_Silent_p.A321A|PCSK6_uc002bxc.1_Silent_p.A321A|PCSK6_uc002bxd.1_Silent_p.A321A|PCSK6_uc002bxe.3_Silent_p.A321A|PCSK6_uc002bxg.1_Silent_p.A321A	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	322	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.A321A(4)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCCTGCTTAGCCAGTCGGC	0.552000													7	171					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7174736	7174736	+	Silent	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:7174736C>A	uc002mgd.1	-	3	1090	c.981G>T	c.(979-981)ctG>ctT	p.L327L	INSR_uc002mge.1_Silent_p.L327L|INSR_uc002mgf.3_Silent_p.L327L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	327	Cys-rich.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity	p.L327L(4)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGGGTGCACAGCAAGCTAA	0.587000													3	37					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004290	248004290	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:248004290C>A	uc001idn.1	-	0	909	c.909G>T	c.(907-909)aaG>aaT	p.K303N		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K303N(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCATGACCTTTCTAACAG	0.378000													49	57					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038884	75038884	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:75038884C>A	uc001dgg.3	-	13	2729	c.2510G>T	c.(2509-2511)aGg>aTg	p.R837M		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	837	Glu-rich.							p.R837M(2)|p.R837K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGCCCCCCTTTCTATGCC	0.562000													21	227					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125398090	125398090	+	Silent	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr12:125398090C>T	uc001ugs.4	-	1	686	c.228G>A	c.(226-228)ggG>ggA	p.G76G	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Silent_p.G76G|UBC_uc001ugu.1_Silent_p.G76G|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Silent_p.G76G|UBC_uc001ugw.3_Intron	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	76	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G76G(2)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGATTTGCATCCCACCTCTGA	0.532000													8	346					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42852443	42852443	+	Missense_Mutation	SNP	C	C	T	rs139092674		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr21:42852443C>T	uc010gor.3	-	5	704	c.643G>A	c.(643-645)Gag>Aag	p.E215K	TMPRSS2_uc002yzj.3_Missense_Mutation_p.E178K|TMPRSS2_uc010gos.1_Missense_Mutation_p.E178K	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	178	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.E178K(3)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CCGTAGTTCTCGTTCCAGTCG	0.572000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								40	68					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870862	207870862	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207870862C>A	uc001hga.4	+	5	998	c.877C>A	c.(877-879)Cca>Aca	p.P293T	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	293	Sushi 5.					cytoplasm|extracellular region|membrane		p.P293T(1)|p.P301T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGCCACCTCCAGATGTCCT	0.478000													110	249					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670197	7670197	+	Silent	SNP	G	G	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:7670197G>T	uc002mgu.4	+	1	335	c.234G>T	c.(232-234)ctG>ctT	p.L78L	CAMSAP3_uc002mgv.4_Silent_p.L78L	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	78					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	p.L78L(5)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACGGCTGCTGCTCTCAGCCG	0.667000													10	102					0	0	1	0	0
FLJ00322	0	broad.mit.edu	37	16	15023280	15023280	+	Splice_Site	SNP	T	T	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr16:15023280T>C	uc010uzk.2	+	6	1123	c.847_splice	c.e6+2	p.G283_splice	NPIP_uc002dcx.4_Splice_Site					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGCTGGCGGGTGAGGAGATCG	0.701000													3	13					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028387	100028387	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100028387A>C	uc003uuw.3	+	0	1134	c.746A>C	c.(745-747)cAt>cCt	p.H249P	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	249							methyltransferase activity	p.H249P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCCATGTAGTTCTT	0.582000													18	291					0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5016888	5016888	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:5016888C>T	uc003gig.3	-	3	426	c.401G>A	c.(400-402)cGt>cAt	p.R134H		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	Homo sapiens cytokine-like 1 (CYTL1), mRNA.	134					signal transduction	extracellular space|soluble fraction	receptor binding	p.R134H(2)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTAGCGCTGACGATCTGGCAG	0.493000													37	66					0	0	1	0	0
LCE2D	353141	broad.mit.edu	37	1	152636733	152636733	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:152636733G>T	uc021ozb.1	+	0	152	c.152G>T	c.(151-153)aGc>aTc	p.S51I	LCE2D_uc001fag.3_Missense_Mutation_p.S51I	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	Homo sapiens late cornified envelope 2D (LCE2D), mRNA.	51	Cys-rich.				keratinization			p.S51I(2)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTCCCAGCTCTGGGAGC	0.647000													109	191					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111969101	111969101	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:111969101T>C	uc001eba.3	-	2	274	c.218A>G	c.(217-219)gAt>gGt	p.D73G	OVGP1_uc001eaz.3_Missense_Mutation_p.D13G|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.D63G	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	73					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.D73G(2)|p.Q72H(1)|p.D115G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AATTTTCTCATCCTGGAGATC	0.428000													11	201					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76604978	76604978	+	Splice_Site	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:76604978G>A	uc003pih.1	+	29	3416	c.3137_splice	c.e29+1	p.P1046_splice	MYO6_uc003pig.1_Intron|MYO6_uc003pii.1_Intron|MYO6_uc003pij.1_Splice_Site_p.P3_splice	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	1055					DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAATGACACCGTATGTCACTT	0.289000													42	91					0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130786002	130786002	+	RNA	SNP	G	G	A	rs34238944		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr2:130786002G>A	uc002tpy.1	-	0		c.3490C>T			LOC440905_uc002tpz.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		ATATGGCCTCGTCAAAGCTCT	0.468000													3	23					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720826	89720826	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr10:89720826A>G	uc001kfb.3	+	7	2009	c.977A>G	c.(976-978)gAc>gGc	p.D326G	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	326	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.D326G(4)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L325H(1)|p.D326fs*4(1)|p.L325V(1)|p.L325P(1)|p.L325R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATGATCTTGACAAAGCAAAT	0.333000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	161					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30904102	30904102	+	Nonsense_Mutation	SNP	C	C	T	rs149015672		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr20:30904102C>T	uc002wxq.3	+	2	1666	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	KIF3B_uc010ztw.2_Nonsense_Mutation_p.R434*	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	496					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity	p.R496*(2)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGCAGAAACGACAGGAAAT	0.408000													63	128					0	0	1	0	0
POLDIP2	26073	broad.mit.edu	37	17	26680002	26680002	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr17:26680002G>A	uc002haz.3	-	6	682	c.552C>T	c.(550-552)tcC>tcT	p.S184S	POLDIP2_uc010wag.2_Non-coding_Transcript	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	186						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCTGATCAGTGGAGGTGTAGG	0.488000													17	41					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515854	195515854	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:195515854G>A	uc021xjp.1	-	1	2753	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S748L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	871	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S866L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGACGATCGAAGACGCCAT	0.592000													4	54					0	0	1	0	0
LINC00518	221718	broad.mit.edu	37	6	10430010	10430010	+	RNA	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:10430010G>A	uc003myz.2	-	2		c.1026C>T								Homo sapiens long intergenic non-protein coding RNA 518 (LINC00518), non-coding RNA.																		GTAGAGGCTAGAACTGGAATT	0.368000											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	1	0	0
SPC24	147841	broad.mit.edu	37	19	11258496	11258496	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:11258496C>A	uc002mql.2	-	3	517	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_182513	NP_872319	Q8NBT2	SPC24_HUMAN	Homo sapiens SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC24), mRNA.	162	Interaction with the C-terminus of SPBC25.				cell division|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding	p.G162V(2)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						AAGGATACTGCCTTTGACCAT	0.438000													3	37					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52285247	52285247	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:52285247G>A	uc003pap.4	+	0	254	c.39G>A	c.(37-39)ccG>ccA	p.P13P	EFHC1_uc011dwv.1_5'UTR|EFHC1_uc011dww.2_5'Flank	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	13						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.P13P(2)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CCTTTCTTCCGGGCACGTCCT	0.622000													3	72					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:114442814G>A	uc001eeb.3	-	4	1012	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	LOC100287722_uc001edv.1_Non-coding_Transcript|AP4B1_uc001eec.3_Missense_Mutation_p.R108W|AP4B1_uc010owp.2_Missense_Mutation_p.R177W|AP4B1_uc001eed.3_Missense_Mutation_p.R276W|AP4B1_uc001eea.1_Missense_Mutation_p.R70W|AP4B1_uc010owq.2_Missense_Mutation_p.R183W	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.R276W(4)|p.R276L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483000													5	128					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207932991	207932991	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207932991T>G	uc001hgc.3	+	3	572	c.397T>G	c.(397-399)Tta>Gta	p.L133V	CD46_uc001hgg.3_Missense_Mutation_p.L133V|CD46_uc001hgh.3_Missense_Mutation_p.L133V|CD46_uc001hgi.3_Missense_Mutation_p.L133V|CD46_uc001hgj.3_Missense_Mutation_p.L133V|CD46_uc001hgm.3_Missense_Mutation_p.L133V|CD46_uc001hgl.3_Missense_Mutation_p.L133V|CD46_uc001hgp.3_Missense_Mutation_p.L133V	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	133	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	p.L133V(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TAGTTATTACTTAATTGGTGA	0.279000													23	45					0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103664291	103664291	+	Splice_Site	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:103664291T>A	uc011lhk.1	-	3	425	c.271_splice	c.e3-1	p.C91_splice	KLF10_uc011lhj.1_Splice_Site_p.C80_splice	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	91					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTCAAACACTAAAGAAAAGG	0.333000											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	74					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73186511	73186511	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:73186511C>G	uc003hgk.2	-	6	1059	c.1022G>C	c.(1021-1023)aGa>aCa	p.R341T		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	341	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R341T(3)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGATCAGATCTTTGCTGTTG	0.443000													10	227					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373735	126373735	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:126373735C>T	uc003ifj.4	+	8	11564	c.11564C>T	c.(11563-11565)gCg>gTg	p.A3855V	FAT4_uc011cgp.2_Missense_Mutation_p.A2153V|FAT4_uc003ifi.1_Missense_Mutation_p.A1333V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3855	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A3855V(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGGATATGCGGGTAGCTGG	0.473000													3	73					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79981645	79981645	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:79981645A>T	uc004akr.3	+	60	8588	c.8328A>T	c.(8326-8328)ttA>ttT	p.L2776F	VPS13A_uc004akp.4_Missense_Mutation_p.L2776F|VPS13A_uc004akq.4_Missense_Mutation_p.L2776F|VPS13A_uc004aks.3_Missense_Mutation_p.L2737F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2776					Golgi to endosome transport|protein transport	intracellular	protein binding	p.L2776F(3)|p.K2775K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTTTAGTTACATTTAAGTG	0.269000													4	79					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584459	30584459	+	Silent	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr20:30584459C>T	uc002wxe.3	+	2	1113	c.939C>T	c.(937-939)cgC>cgT	p.R313R		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	313						integral to membrane		p.R313R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGCCGCCCGCGGCCTGGCCT	0.637000													26	57					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159033301	159033301	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:159033301G>A	uc001ftj.1	-	4	1225	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	327	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.T327I(2)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AACTCCAGATGTCAGCTGTAG	0.423000													91	348					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168807995	168807995	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:168807995delT	uc011bpj.1	-	14	3597	c.3194delA	c.(3193-3195)aagfs	p.K1065fs	MECOM_uc010hwk.1_Frame_Shift_Del_p.K891fs|MECOM_uc003ffj.3_Frame_Shift_Del_p.K942fs|MECOM_uc003ffi.3_Frame_Shift_Del_p.K877fs|MECOM_uc011bpi.1_Frame_Shift_Del_p.K869fs|MECOM_uc003ffn.3_Frame_Shift_Del_p.K877fs|MECOM_uc003ffk.2_Frame_Shift_Del_p.K868fs|MECOM_uc003ffl.2_Frame_Shift_Del_p.K1028fs|MECOM_uc011bpk.1_Frame_Shift_Del_p.K877fs	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACCAAAGCCTTTTCATCTTT	0.318													38	286	---	---	---	---					
CEP57L1	285753	broad.mit.edu	37	6	109476463	109476466	+	Frame_Shift_Del	DEL	AAGG	-	-			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:109476463_109476466delAAGG	uc010kdk.3	+	7	1187_1190	c.610_613delAAGG	c.(610-615)aaggaafs	p.K204fs	CEP57L1_uc003psw.4_Frame_Shift_Del_p.K204fs|CEP57L1_uc003psx.4_Frame_Shift_Del_p.K204fs|CEP57L1_uc010kdl.3_Frame_Shift_Del_p.K204fs|CEP57L1_uc003psy.4_Frame_Shift_Del_p.K204fs	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN	Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.	204						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AGAAAAACTTAAGGAAGAAGAACA	0.275													33	134	---	---	---	---					
VRK3	51231	broad.mit.edu	37	19	50511057	50511058	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:50511057_50511058insG	uc002prg.2	-	4	413_414	c.315_316insC	c.(313-318)cccaaafs	p.P105fs	VRK3_uc002prh.1_Frame_Shift_Ins_p.P105fs|VRK3_uc002pri.1_Frame_Shift_Ins_p.P55fs|VRK3_uc010ens.2_Frame_Shift_Ins_p.P105fs|VRK3_uc010ybl.1_Frame_Shift_Ins_p.P55fs|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prk.2_Frame_Shift_Ins_p.P105fs|VRK3_uc010ent.2_5'UTR|VRK3_uc002prl.3_Frame_Shift_Ins_p.P105fs|VRK3_uc010ybn.1_Frame_Shift_Ins_p.P105fs	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	105			P -> T (in dbSNP:rs11547882).			nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCTGCTTTTGGGGGTTGGGG	0.564													7	251	---	---	---	---					
