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
HPS6	79803	broad.mit.edu	37	10	103826228	103826228	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:103826228G>C	ENST00000299238.5	+	1	1082	c.997G>C	c.(997-999)Gaa>Caa	p.E333Q		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	333						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTCCACATTGGAACTGCTGGA	0.627000									Hermansky-Pudlak syndrome				16	86					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452471	100452471	+	Missense_Mutation	SNP	T	T	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr12:100452471T>A	ENST00000279907.7	-	14	2796	c.2584A>T	c.(2584-2586)Att>Ttt	p.I862F	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I512F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	862										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTAAGTAAAATTCCAATACAA	0.428000													14	83					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016391	23016391	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:23016391G>A	ENST00000255008.3	+	1	335	c.271G>A	c.(271-273)Gta>Ata	p.V91I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	91					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAACCTGGCCGTAGCCGACGA	0.657000													11	280					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103826135	103826135	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:103826135G>C	ENST00000299238.5	+	1	989	c.904G>C	c.(904-906)Ggc>Cgc	p.G302R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	302						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCGGGCTGTGGGCACCCTGCA	0.647000									Hermansky-Pudlak syndrome				17	63					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206592730	206592730	+	Silent	SNP	C	C	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:206592730C>A	ENST00000414007.1	+	8	1027	c.1027C>A	c.(1027-1029)Cgg>Agg	p.R343R	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	483					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AACAGGTCAGCGGACAGATTG	0.512000													5	46					1.23904e-05	1.30204e-05	1	1	0
ALDH1A3	220	broad.mit.edu	37	15	101434212	101434212	+	Missense_Mutation	SNP	T	T	G			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr15:101434212T>G	ENST00000329841.5	+	6	1123	c.591T>G	c.(589-591)tgT>tgG	p.C197W	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	197					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CCCTCTGCTGTGGGAACACCA	0.567000													40	99					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228131136	228131136	+	Missense_Mutation	SNP	A	A	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr2:228131136A>T	ENST00000396578.3	+	22	1481	c.1319A>T	c.(1318-1320)gAc>gTc	p.D440V	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	440	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTATAGGTGACATCGTTTTT	0.388000													4	39					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20852060	20852060	+	Silent	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr14:20852060G>A	ENST00000262715.5	-	25	3592	c.3552C>T	c.(3550-3552)gcC>gcT	p.A1184A	TEP1_ENST00000556935.1_Silent_p.A1076A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1184	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGCCTGCAGGGCTGACACAA	0.557000													5	14					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	977080	977080	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:977080G>A	ENST00000379370.2	+	6	1225	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	392					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCAGGGTCGAGGTGAGCGG	0.731000													3	6					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54416165	54416165	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:54416165C>T	ENST00000391767.1	+	2	292	c.80C>T	c.(79-81)gCg>gTg	p.A27V	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.A27V|CACNG7_ENST00000391766.1_Missense_Mutation_p.A27V			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	27					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GTAGGCATCGCGGTCAGCACT	0.647000													15	44					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													4	43					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35873703	35873703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr14:35873703G>A	ENST00000216797.5	-	1	249	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Nonsense_Mutation_p.Q50*	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	50					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CGGATCTCCTGCAGCTCCTTG	0.682000													4	13					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62559377	62559377	+	Missense_Mutation	SNP	T	T	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr8:62559377T>A	ENST00000541428.1	-	6	624	c.464A>T	c.(463-465)gAt>gTt	p.D155V	ASPH_ENST00000518068.1_Intron|ASPH_ENST00000445642.3_Missense_Mutation_p.D170V|ASPH_ENST00000379454.4_Missense_Mutation_p.D184V|ASPH_ENST00000517847.2_Missense_Mutation_p.D170V|ASPH_ENST00000517903.1_Missense_Mutation_p.D170V|ASPH_ENST00000356457.5_Missense_Mutation_p.D184V|ASPH_ENST00000522835.1_Intron	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	184	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AAGAAACTCATCATCCTCTTG	0.403000													6	477					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14268118	14268118	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:14268118T>C	ENST00000340736.6	-	15	3002	c.2705A>G	c.(2704-2706)aAc>aGc	p.N902S	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N897S	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	902					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGAAGAGGTTGATGCACAG	0.617000													16	173					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122817235	122817235	+	Missense_Mutation	SNP	C	C	T	rs143699753	by1000genomes	TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:122817235C>T	ENST00000227349.2	+	6	1961	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	C11orf63_ENST00000531316.1_Missense_Mutation_p.T555M	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	555										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GACAGCCAGACGGTTAGAGCT	0.428000													22	66					0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134594354	134594354	+	Splice_Site	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:134594354C>T	ENST00000368594.3	+	14	1368	c.1089_splice	c.e14-1	p.S364_splice		NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	364					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCTTTCCAGTCGGAGAGCGAG	0.597000													18	149					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10083067	10083067	+	Splice_Site	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr4:10083067C>T	ENST00000382452.2	-	11	1480	c.1196_splice	c.e11-1	p.G400_splice	WDR1_ENST00000499869.2_Splice_Site_p.G400_splice|WDR1_ENST00000382451.2_Splice_Site_p.G260_splice|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Splice_Site_p.G260_splice	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	400					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACTCCTTGTCCGCTGTTAGAG	0.512000													7	66					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597000													5	257					0	0	1	0	0
POFUT1	23509	broad.mit.edu	37	20	30797941	30797941	+	Silent	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:30797941C>T	ENST00000375749.3	+	2	254	c.192C>T	c.(190-192)acC>acT	p.T64T	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000375730.3_Silent_p.T64T	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	64					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TAAACCGTACCTTGGCTGTCC	0.547000													84	115					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146262872	146262872	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr6:146262872G>A	ENST00000367503.3	-	10	2775	c.2377C>T	c.(2377-2379)Cgt>Tgt	p.R793C	SHPRH_ENST00000367505.2_Missense_Mutation_p.R793C|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R793C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CGTAGGCGACGCCCATCCTCA	0.468000													10	82					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125575169	125575169	+	Missense_Mutation	SNP	A	A	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr8:125575169A>C	ENST00000518547.1	-	10	1362	c.889T>G	c.(889-891)Tca>Gca	p.S297A	MTSS1_ENST00000325064.5_Missense_Mutation_p.S301A|MTSS1_ENST00000431961.2_Missense_Mutation_p.S97A|MTSS1_ENST00000354184.4_Missense_Mutation_p.S97A|MTSS1_ENST00000524090.1_Missense_Mutation_p.S187A|MTSS1_ENST00000378017.3_Missense_Mutation_p.S297A|MTSS1_ENST00000395508.2_Missense_Mutation_p.S31A|MTSS1_ENST00000523587.1_5'UTR|NDUFB9_ENST00000522532.1_Intron	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	297	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CGGTAATGTGAGCTGGGGGAA	0.622000													11	26					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61867696	61867696	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:61867696G>A	ENST00000217169.3	+	1	462	c.248G>A	c.(247-249)gGc>gAc	p.G83D	BIRC7_ENST00000342412.6_Missense_Mutation_p.G83D	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	83					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GCCTTCCCCGGCATGGGCTCT	0.677000													4	108					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435707	158435707	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:158435707G>A	ENST00000289451.2	+	1	436	c.356G>A	c.(355-357)gGc>gAc	p.G119D		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GCAGCCATGGGCTATGATCGC	0.537000													9	173					0	0	1	0	0
WDR45B	56270	broad.mit.edu	37	17	80588876	80588876	+	Silent	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr17:80588876G>A	ENST00000392325.4	-	3	359	c.165C>T	c.(163-165)ggC>ggT	p.G55G	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B																		TTTCAACATGGCCAACTCCTC	0.318000													22	189					0	0	1	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066065	153066065	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:153066065G>A	ENST00000368751.1	-	2	237	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.P55S			P22531	SPR2E_HUMAN	small proline-rich protein 2E	55					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGACATTTTTGC	0.552000													82	305					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805127	22805127	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr18:22805127C>T	ENST00000361524.3	-	4	2903	c.2755G>A	c.(2755-2757)Gtg>Atg	p.V919M	ZNF521_ENST00000538137.2_Missense_Mutation_p.V919M|ZNF521_ENST00000584787.1_Missense_Mutation_p.V699M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	919					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCTTTTTCACGATGGCACTT	0.498000			T	PAX5	ALL								8	111					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	150					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74376044	74376044	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chrX:74376044G>A	ENST00000253577.3	-	1	88	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ABCB7_ENST00000339447.4_Missense_Mutation_p.R22W|ABCB7_ENST00000373394.3_Missense_Mutation_p.R22W	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	22					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCGGAGTGCCGGCGCTTTTCG	0.617000											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136401741	136401741	+	Silent	SNP	G	G	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr9:136401741G>T	ENST00000393061.3	+	2	666	c.234G>T	c.(232-234)ctG>ctT	p.L78L	ADAMTSL2_ENST00000354484.4_5'UTR|ADAMTSL2_ENST00000393060.1_5'UTR			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	484	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CCTGGGCACTGGCTGGGCCCC	0.597000													4	29					0.000602214	0.000622288	1	1	0
TTN	7273	broad.mit.edu	37	2	179472151	179472151	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr2:179472151G>A	ENST00000589042.1	-	277	53488	c.53264C>T	c.(53263-53265)gCa>gTa	p.A17755V	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8882V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A16114V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8815V|TTN_ENST00000460472.2_Missense_Mutation_p.A8690V|TTN_ENST00000342992.6_Missense_Mutation_p.A15187V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16114	Ig-like 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGCTGCTGCAAATTTGGA	0.378000													5	211					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255256	51255256	+	Silent	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr2:51255256G>A	ENST00000404971.1	-	2	1495	c.156C>T	c.(154-156)agC>agT	p.S52S	NRXN1_ENST00000405581.1_Silent_p.S52S|NRXN1_ENST00000406859.3_Silent_p.S52S|NRXN1_ENST00000405472.3_Silent_p.S52S|NRXN1_ENST00000406316.2_Silent_p.S52S|NRXN1_ENST00000402717.3_Silent_p.S52S|NRXN1_ENST00000401669.2_Silent_p.S52S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	52	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCTCATCTCGCTCTCGCAGC	0.672000													5	12					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124693564	124693564	+	Silent	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr8:124693564C>T	ENST00000262219.6	-	12	1057	c.990G>A	c.(988-990)gaG>gaA	p.E330E	ANXA13_ENST00000419625.1_Silent_p.E289E	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	289					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTGATACTTCTCTTGGAACT	0.478000													63	248					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932785	148932785	+	RNA	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:148932785G>C	ENST00000539543.1	+	0	41					NR_027355.1																						CTCCTCTGCAGACTGCTGGCC	0.572000													9	158					0	0	1	0	0
SAA4	6291	broad.mit.edu	37	11	18254043	18254043	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:18254043C>T	ENST00000278222.4	-	3	309	c.129G>A	c.(127-129)atG>atA	p.M43I	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GATTGGATATCATTATGTCCC	0.438000													62	139					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595249	140595249	+	Silent	SNP	T	T	C	rs144959109	byFrequency	TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr5:140595249T>C	ENST00000341948.4	+	1	1741	c.1554T>C	c.(1552-1554)tcT>tcC	p.S518S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S518S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAGGTCTCTGGACTACG	0.692000													5	235					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518838	86518838	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr9:86518838G>C	ENST00000297814.2	-	4	738	c.595C>G	c.(595-597)Caa>Gaa	p.Q199E	KIF27_ENST00000334204.2_Missense_Mutation_p.Q199E|KIF27_ENST00000413982.1_Missense_Mutation_p.Q199E	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	199	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCATTCATTTGAGTGGTACCT	0.433000													64	211					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1918060	1918060	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:1918060C>T	ENST00000358771.4	+	8	1513	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	SIRPA_ENST00000400068.3_Missense_Mutation_p.A458V|SIRPA_ENST00000356025.3_Missense_Mutation_p.A454V	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	454					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGAGTATGCCAGCATTCAG	0.617000													5	163					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	44					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	90					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140433	56140433	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:56140433C>T	ENST00000319441.4	+	10	1606	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.A164V	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	481					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GACCCCTTTGCCATGCGGCCC	0.507000													4	122					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175293954	175293954	+	Silent	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:175293954C>T	ENST00000454872.1	+	10	1907	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	593					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGTTTGCTTACGAGGACATCA	0.393000													39	243					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52258570	52258570	+	Splice_Site	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr18:52258570G>A	ENST00000321600.1	+	1	181	c.135_splice	c.e1+1	p.P45_splice	DYNAP_ENST00000585973.1_Splice_Site_p.P48_splice	NM_173629.1	NP_775900.1			dynactin associated protein																		AAAACCAGCCGGTGAGTGTCC	0.368000													30	111					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153909074	153909074	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:153909074T>C	ENST00000361217.4	-	16	2801	c.2383A>G	c.(2383-2385)Aca>Gca	p.T795A		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	795										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGTAGGCTGTGTGCAGTGCC	0.632000													3	18					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28283901	28283901	+	Silent	SNP	A	A	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:28283901A>T	ENST00000305242.5	-	2	263	c.171T>A	c.(169-171)ctT>ctA	p.L57L		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	57							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGTTCCATTCAAGTGGTTCCA	0.373000													4	64					0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9764389	9764389	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:9764389G>C	ENST00000448622.1	-	6	679	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E	ZNF562_ENST00000587392.1_3'UTR|ZNF562_ENST00000293648.4_Missense_Mutation_p.Q101E|ZNF562_ENST00000453792.2_Missense_Mutation_p.Q104E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q173E|ZNF562_ENST00000541032.1_Missense_Mutation_p.Q136E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q57E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q172E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						GAAAGTTCTTGTCCAATAGAG	0.418000													55	161					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52263977	52263977	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:52263977C>G	ENST00000354831.7	-	24	2941	c.2752G>C	c.(2752-2754)Gaa>Caa	p.E918Q	RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000544028.1_Missense_Mutation_p.E718Q|NRD1_ENST00000352171.7_Missense_Mutation_p.E850Q|NRD1_ENST00000539524.1_Missense_Mutation_p.E786Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	849					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.E918*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GATTTGAATTCTTTGACGAAG	0.488000													27	80					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31092135	31092135	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr16:31092135C>T	ENST00000394979.2	+	1	4913	c.4490C>T	c.(4489-4491)cCt>cTt	p.P1497L	ZNF646_ENST00000300850.5_Missense_Mutation_p.P1497L			O15015	ZN646_HUMAN	zinc finger protein 646	1497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CACAGGAGTCCTTGCCACGCT	0.587000													14	41					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129196910	129196910	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:129196910G>A	ENST00000296266.3	+	13	1544	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	IFT122_ENST00000348417.2_Missense_Mutation_p.R400Q|IFT122_ENST00000504021.1_Missense_Mutation_p.R294Q|IFT122_ENST00000431818.2_Missense_Mutation_p.R250Q|IFT122_ENST00000507564.1_Missense_Mutation_p.R392Q|IFT122_ENST00000440957.2_Missense_Mutation_p.R191Q|IFT122_ENST00000349441.2_Missense_Mutation_p.R289Q|IFT122_ENST00000347300.2_Missense_Mutation_p.R341Q	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	400					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TACAGAAATCGATTGGCTATC	0.378000													18	189					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92130948	92130948	+	Missense_Mutation	SNP	C	C	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr7:92130948C>A	ENST00000248633.4	-	15	2551	c.2456G>T	c.(2455-2457)cGc>cTc	p.R819L	PEX1_ENST00000438045.1_Missense_Mutation_p.R497L|PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.R762L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	819					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAGAAATCCGCGGAGAGCCTT	0.368000													4	132					1	1	1	1	0
MYNN	55892	broad.mit.edu	37	3	169500368	169500368	+	Missense_Mutation	SNP	G	G	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:169500368G>T	ENST00000349841.5	+	5	1999	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y	MYNN_ENST00000392733.1_Missense_Mutation_p.D446Y|MYNN_ENST00000356716.4_Missense_Mutation_p.D446Y|MYNN_ENST00000544106.1_Missense_Mutation_p.D446Y	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	446						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTATGTATGTGATACCTGTGG	0.428000													13	189					0.00136819	0.00139062	1	1	0
RELN	5649	broad.mit.edu	37	7	103230055	103230055	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr7:103230055G>A	ENST00000424685.2	-	28	4292	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F	RELN_ENST00000428762.1_Missense_Mutation_p.S1378F|RELN_ENST00000343529.5_Missense_Mutation_p.S1378F			P78509	RELN_HUMAN	reelin	1378					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S1378F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGATGCAAGAGACCTTGGAAT	0.408000													76	129					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219055	180219079	+	Frame_Shift_Del	DEL	GGGCGTATGCAGGCCCGCCCCTGCC	GGGCGTATGCAGGCCCGCCCCTGCC	-	rs146807317		TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr5:180219055_180219079delGGGCGTATGCAGGCCCGCCCCTGCC	ENST00000446023.2	-	3	1643_1667	c.893_917delGGCAGGGGCGGGCCTGCATACGCCC	c.(892-918)ctfs	p.RQGRACIRP298fs	MGAT1_ENST00000427865.2_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000393340.3_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000307826.4_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000333055.3_Frame_Shift_Del_p.RQGRACIRP298fs	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	298					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAGATCTCAGGGCGTATGCAGGCCCGCCCCTGCCGCTGCTCCGG	0.627													18	47	---	---	---	---					
TRDN	10345	broad.mit.edu	37	6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)ttafs	p.L297fs	RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.1_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													2	4	---	---	---	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)del	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								9	186	---	---	---	---					
SFMBT2	57713	broad.mit.edu	37	10	7325965	7325965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:7325965delC	ENST00000361972.4	-	6	763	c.673delG	c.(673-675)acfs	p.D225fs	SFMBT2_ENST00000397167.1_Frame_Shift_Del_p.D225fs	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	225					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GATTCAGTGTCCTCCAATCCC	0.428													17	159	---	---	---	---					
TBC1D27	96597	broad.mit.edu	37	17	16828247	16828247	+	RNA	DEL	G	G	-			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr17:16828247delG	ENST00000261651.2	-	0	3371																											TGACATCCTTGGAGGGGCACT	0.592													2	4	---	---	---	---					
PTGIR	5739	broad.mit.edu	37	19	47127419	47127419	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:47127419delG	ENST00000291294.2	-	2	197	c.64delC	c.(64-66)tgfs	p.L22fs	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Frame_Shift_Del_p.L22fs|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	22					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	ACGAACATCAGGGTGCTGGTG	0.721													2	4	---	---	---	---					
DGCR5	26220	broad.mit.edu	37	22	18976301	18976324	+	RNA	DEL	TATTTATTTATTTATTTATTTATT	TATTTATTTATTTATTTATTTATT	-	rs139950802		TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	ENST00000438934.1	+	0	394				DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA																							TGGCTGGACAtatttatttatttatttatttatttatttattta	0.411													3	4	---	---	---	---					
SMTN	6525	broad.mit.edu	37	22	31489490	31489490	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr22:31489490delG	ENST00000404574.1	+	1	147	c.57delG	c.(55-57)ttfs	p.L19fs	SMTN_ENST00000347557.2_Intron|SMTN_ENST00000333137.7_Intron|SMTN_ENST00000358743.1_Intron			P53814	SMTN_HUMAN	smoothelin	0					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGGAGCAGTTGGGCCGGGCAC	0.711													2	4	---	---	---	---