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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GP9	2815	broad.mit.edu	37	3	128781018	128781018	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr3:128781018C>T	uc003elm.2	+	2	623	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	GP9_uc021xdn.1_Missense_Mutation_p.P146S	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	146					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGGGTGCGCCCGGGGGTCTT	0.726000														4			6		0	0	0.003080	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674962	3674962	+	Silent	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr20:3674962G>A	uc002wja.3	-	11	3162	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I	SIGLEC1_uc002wiz.4_Silent_p.I1054I|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1054	Ig-like C2-type 10.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TAGCCCCGTGGATCTCCAGAC	0.627000														86			51		0	0	0.014410	0	0
AP1M1	8907	broad.mit.edu	37	19	16345234	16345235	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr19:16345234_16345235CC>TT	uc002ndv.2	+	12	1469_1470	c.1296_1297CC>TT	c.(1294-1299)ctccgg>ctTTgg	p.R433W	AP1M1_uc002ndu.2_Missense_Mutation_p.R421W|AP1M1_uc010xpd.1_Missense_Mutation_p.R368W	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	421					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ATTACCAGCTCCGGACCCAGTG	0.688000														26			12		0	0	0.004672	0	0
FOSB	2354	broad.mit.edu	37	19	45974075	45974075	+	Silent	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr19:45974075C>T	uc002pbx.4	+	1	907	c.315C>T	c.(313-315)tcC>tcT	p.S105S	ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Silent_p.S105S|FOSB_uc010eka.1_Silent_p.S66S|FOSB_uc010ekb.1_Silent_p.S105S|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Silent_p.S105S|FOSB_uc010eke.3_Silent_p.S66S|FOSB_uc002pby.4_Silent_p.S105S|FOSB_uc010ekf.3_Silent_p.S66S|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_Silent_p.S56S	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	105					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CCAGCTACTCCACACCAGGCA	0.682000														99			53		0	0	0.014410	0	0
C15orf2	23742	broad.mit.edu	37	15	24924253	24924253	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr15:24924253G>A	uc001ywo.3	+	0	3713	c.3239G>A	c.(3238-3240)gGa>gAa	p.G1080E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1080					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTGTATTTGGATATACTTCT	0.537000														55			49		0	0	0.014410	0	0
SLC12A7	10723	broad.mit.edu	37	5	1060464	1060464	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr5:1060464G>C	uc003jbu.3	-	20	2908	c.2842C>G	c.(2842-2844)Cga>Gga	p.R948G		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	948					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CGTACCTCTCGCTCCTGCTCG	0.562000														230			36		0	0	0.013114	0	0
GRB14	2888	broad.mit.edu	37	2	165383625	165383625	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr2:165383625C>T	uc002ucl.3	-	3	1043	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	GRB14_uc010zcv.2_Missense_Mutation_p.E81K	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	168	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATCACCAGTTCGTGGTCTTCT	0.264000														39			19		0	0	0.002780	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														85			7		0	0	0.003080	0	0
AP3M2	10947	broad.mit.edu	37	8	42012386	42012386	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr8:42012386C>T	uc003xop.3	+	2	472	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	AP3M2_uc003xoo.3_Missense_Mutation_p.R61C|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_5'UTR	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	61					intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			AAGTGTTTACCGCCACAAGAT	0.483000														117			7		0	0	0.001984	0	0
MYOM2	9172	broad.mit.edu	37	8	2021526	2021526	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr8:2021526C>A	uc003wpx.4	+	9	1204	c.1066C>A	c.(1066-1068)Cgc>Agc	p.R356S	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	356	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTACACCCTGCGCATCGTGTC	0.617000														12			20		4.35082e-09	6.91187e-08	0.010504	1	0
IL26	55801	broad.mit.edu	37	12	68595823	68595823	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr12:68595823G>A	uc001stx.1	-	3	439	c.404C>T	c.(403-405)aCc>aTc	p.T135I		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	135					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTTCATCCTGGTAATGGATTT	0.269000														12			7		0	0	0.004482	0	0
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	G	G	rs121913492		TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr9:80409488T>G	uc004akw.3	-	4	694	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_uc011lso.2_Missense_Mutation_p.Q7P	NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(208)|p.Q209P(206)|p.Q209R(4)|p.Q209Y(2)|p.Q209H(1)|p.Q209K(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348000			Mis		uveal melanoma									38			36		0	0	0.005524	0	0
MBNL3	55796	broad.mit.edu	37	X	131573585	131573585	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chrX:131573585C>A	uc004ewv.4	-	0	758	c.55G>T	c.(55-57)Gtc>Ttc	p.V19F	MBNL3_uc004eww.3_5'UTR|MBNL3_uc010nrl.1_Non-coding_Transcript|MBNL3_uc004ewu.4_Missense_Mutation_p.V19F	NM_018388	NP_001164175	Q9NUK0	MBNL3_HUMAN	Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA.	19					RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TCTCTACAGACTTCTAAAGTC	0.428000														106			73		5.72486e-32	9.30623e-31	0.014410	1	0
MDH2	4191	broad.mit.edu	37	7	75694157	75694157	+	Silent	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr7:75694157C>T	uc003ueo.3	+	7	857	c.771C>T	c.(769-771)cgC>cgT	p.R257R	MDH2_uc011kgh.2_Silent_p.R215R|MDH2_uc003uep.3_Silent_p.R150R	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	257					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	CCGGCGCCCGCTTTGTCTTCT	0.572000														31			19		0	0	0.008871	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540452	40540452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr19:40540452G>A	uc002omu.3	-	4	2379	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	ZNF780B_uc002omv.3_Nonsense_Mutation_p.Q624*	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	772					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAATACTCTGAGGTTGAACA	0.418000														26			25		0	0	0.004656	0	0
LRP1B	53353	broad.mit.edu	37	2	141201982	141201982	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr2:141201982G>A	uc002tvj.1	-	64	11183	c.10211C>T	c.(10210-10212)aCc>aTc	p.T3404I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3404	LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGTTCTTGGTACATTTGAA	0.383000										TSP Lung(27;0.18)				41			17		0	0	0.004007	0	0
DGKG	1608	broad.mit.edu	37	3	185970917	185970917	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr3:185970917C>T	uc003fqa.3	-	17	2102	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	DGKG_uc003fqb.3_Missense_Mutation_p.G483E|DGKG_uc003fqc.3_Missense_Mutation_p.G497E|DGKG_uc011brx.2_Missense_Mutation_p.G463E	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	522	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AAGGTCATTTCCTGTTCCAAG	0.517000														46			25		0	0	0.006320	0	0
HHIP	64399	broad.mit.edu	37	4	145567871	145567871	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr4:145567871C>T	uc003ijs.2	+	0	724	c.44C>T	c.(43-45)gCt>gTt	p.A15V	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Missense_Mutation_p.A15V	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	15						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTGGCCGTGGCTCTGGGCTTC	0.617000											OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			58		0	0	0.014410	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629053	122629053	+	Silent	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr3:122629053G>A	uc003efz.1	-	22	3697	c.3393C>T	c.(3391-3393)ccC>ccT	p.P1131P	SEMA5B_uc011bju.1_Silent_p.P1037P|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003efy.1_Silent_p.P109P	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	1131					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTTTGTTCAGGGGGCTTGGGT	0.542000														57			27		0	0	0.005443	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497865	73497865	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr17:73497865C>T	uc002joc.3	-	17	3840	c.3290G>A	c.(3289-3291)gGa>gAa	p.G1097E	CASKIN2_uc010wsc.2_Missense_Mutation_p.G1015E	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	1097	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTACCTGCTCCGGGCACCTT	0.642000														73			48		0	0	0.014410	0	0
IPO13	9670	broad.mit.edu	37	1	44432250	44432250	+	Silent	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr1:44432250C>T	uc001ckx.3	+	15	3196	c.2401C>T	c.(2401-2403)Ctg>Ttg	p.L801L	IPO13_uc001cky.3_Silent_p.L19L	NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	801					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCTGCAGGCTCTGAAGCGGAA	0.607000														38			19		0	0	0.012319	0	0
CDC27	996	broad.mit.edu	37	17	45234323	45234323	+	Silent	SNP	T	C	C			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr17:45234323T>C	uc002ile.4	-	6	925	c.798A>G	c.(796-798)cgA>cgG	p.R266R	CDC27_uc002ild.4_Silent_p.R266R|CDC27_uc002ilf.4_Silent_p.R266R|CDC27_uc010wkp.2_Silent_p.R205R|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.G265D(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTAATAAACTTCGACCAGTTT	0.358000														63			6		0	0	0.001984	0	0
COL23A1	91522	broad.mit.edu	37	5	177683870	177683870	+	Silent	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr5:177683870C>T	uc021yiz.1	-	13	1192	c.834G>A	c.(832-834)ccG>ccA	p.P278P	COL23A1_uc021yiy.1_Silent_p.P54P|COL23A1_uc010jkt.2_Missense_Mutation_p.R126Q	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	278	Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		ATGTCACCTTCGGTCCTGGGG	0.632000														10			7		0	0	0.003080	0	0
DCDC5	100506627	broad.mit.edu	37	11	31086649	31086649	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr11:31086649C>T	uc009yjk.1	-	6	763	c.694G>A	c.(694-696)Gat>Aat	p.D232N	DCDC5_uc009yjl.1_Missense_Mutation_p.D160N|DCDC5_uc001msu.2_Missense_Mutation_p.D403N	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	275					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TGGGTCACATCTACTTGTGCA	0.438000														24			5		0	0	0.000602	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15582857	15582857	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr19:15582857C>T	uc002nbg.3	-	2	1320	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	PGLYRP2_uc002nbf.4_Missense_Mutation_p.R396H	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	396					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGCTTCGGGCGGCCCCGATA	0.657000														17			14		0	0	0.006122	0	0
MC5R	4161	broad.mit.edu	37	18	13826737	13826737	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr18:13826737G>A	uc010xaf.2	+	0	1195	c.973G>A	c.(973-975)Gat>Aat	p.D325N		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	325					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCCAGAAGGGATTAAGCACA	0.522000														47			31		0	0	0.012213	0	0
TEX101	83639	broad.mit.edu	37	19	43922418	43922418	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr19:43922418G>A	uc002owk.3	+	8	1234	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	TEX101_uc010xwo.2_Missense_Mutation_p.E207K	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	207						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GTTTGTGAGGGAAGCGTGCCC	0.527000														58			40		0	0	0.007835	0	0
VAV1	7409	broad.mit.edu	37	19	6821684	6821684	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr19:6821684G>A	uc002mfu.1	+	2	470	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	VAV1_uc010xjh.1_Missense_Mutation_p.G125R|VAV1_uc010dva.1_Missense_Mutation_p.G125R|VAV1_uc002mfv.1_Missense_Mutation_p.G70R	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	125					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCAGAACAGGGGGATCATGTG	0.642000														32			21		0	0	0.002780	0	0
ACAD10	80724	broad.mit.edu	37	12	112153653	112153653	+	Silent	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr12:112153653C>T	uc009zvx.3	+	7	1172	c.972C>T	c.(970-972)caC>caT	p.H324H	ACAD10_uc001tso.4_Intron|ACAD10_uc001tsp.3_Silent_p.H293H|ACAD10_uc001tsq.3_Silent_p.H293H|ACAD10_uc001tsr.3_Silent_p.H31H|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	293							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTTTGATCACGGGCAGTCAA	0.473000														92			42		0	0	0.010771	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723898	38723898	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr14:38723898C>T	uc001wum.1	-	0	1677	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	444						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGATCACTCTCCAGGCCCGGC	0.582000														24			25		0	0	0.002780	0	0
ADAM7	8756	broad.mit.edu	37	8	24358349	24358349	+	Silent	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr8:24358349C>T	uc003xeb.3	+	18	2162	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	ADAM7_uc003xec.3_Silent_p.I455I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	683					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G682C(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGTCGGTATCGGAGTTCTTA	0.383000														18			24		0	0	0.004656	0	0
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr2:198267483C>T	uc002uue.3	-	13	1922	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	625					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.R625L(21)|p.R625?(9)|p.R625C(9)|p.R625P(4)|p.R625H(3)|p.R625G(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438000			Mis		myelodysplastic syndrome									27			13		0	0	0.001855	0	0
CNTN6	27255	broad.mit.edu	37	3	1414548	1414548	+	Silent	SNP	G	A	A			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr3:1414548G>A	uc003boz.3	+	13	1962	c.1695G>A	c.(1693-1695)agG>agA	p.R565R	CNTN6_uc011asj.2_Silent_p.R493R|CNTN6_uc003bpa.3_Silent_p.R565R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	565	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGATGATAAGGAATATTCAGT	0.373000														38			32		0	0	0.003755	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41430339	41430339	+	Silent	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr19:41430339C>T	uc010ehg.1	+	0	170	c.162C>T	c.(160-162)tcC>tcT	p.S54S	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.S54S|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TACTCAAATCCTTTCTGAGGG	0.562000														33			21		0	0	0.012319	0	0
MTOR	2475	broad.mit.edu	37	1	11272938	11272938	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr1:11272938C>T	uc001asd.3	-	21	3434	c.3313G>A	c.(3313-3315)Gcc>Acc	p.A1105T		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1105					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.A1105T(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCCAGGTTGGCGCCAAACAGC	0.512000														52			23		0	0	0.003330	0	0
PPIL2	23759	broad.mit.edu	37	22	22049076	22049076	+	Silent	SNP	C	T	T	rs148599036		TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr22:22049076C>T	uc010gtj.1	+	17	1418	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	PPIL2_uc002zvh.4_Silent_p.F434F|PPIL2_uc002zvi.4_Silent_p.F434F|PPIL2_uc002zvg.4_Silent_p.F434F|PPIL2_uc011aij.2_Silent_p.F413F|PPIL2_uc002zvk.4_Silent_p.F180F	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	434					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CTACAGTGTTCGTGGACCCCT	0.647000														42			17		0	0	0.006122	0	0
RARS	5917	broad.mit.edu	37	5	167943886	167943887	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr5:167943886_167943887CC>TT	uc003lzx.3	+	12	1597_1598	c.1556_1557CC>TT	c.(1555-1557)tcc>tTT	p.S519F	RARS_uc011deo.2_Missense_Mutation_p.S313F	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	519					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TACATCTTCTCCTTTGACAAAA	0.411000														99			72		0	0	0.004672	0	0
BCAR1	9564	broad.mit.edu	37	16	75276399	75276399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr16:75276399C>T	uc002fdv.3	-	1	748	c.602G>A	c.(601-603)cGc>cAc	p.R201H	BCAR1_uc010vna.2_Missense_Mutation_p.R199H|BCAR1_uc010cgu.3_Missense_Mutation_p.R201H|BCAR1_uc010vnb.2_Missense_Mutation_p.R247H|BCAR1_uc002fdw.3_Missense_Mutation_p.R201H|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Missense_Mutation_p.R219H|BCAR1_uc002fdx.3_Missense_Mutation_p.R219H	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	201	Substrate for kinases (By similarity).				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity	p.R201C(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCCAGCTGCGTGTGTCCAT	0.637000														69			21		0	0	0.003330	0	0
GIGYF2	26058	broad.mit.edu	37	2	233708909	233708910	+	In_Frame_Ins	INS	-	AGC	AGC			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr2:233708909_233708910insAGC	uc002vtj.4	+	25	3373_3374	c.3106_3107insAGC	c.(3106-3108)aag>aAGCag	p.1043_1044insQ	GIGYF2_uc002vti.4_In_Frame_Ins_p.1022_1023insQ|GIGYF2_uc002vtk.4_In_Frame_Ins_p.1022_1023insQ|GIGYF2_uc002vth.4_In_Frame_Ins_p.1016_1017insQ|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_In_Frame_Ins_p.864_865insA|GIGYF2_uc002vtq.4_In_Frame_Ins_p.355_356insQ	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1022					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAAATGCAAAagcagcagcag	0.490													---	4	---	---	2	---					
FAM86HP	729375	broad.mit.edu	37	3	129817351	129817351	+	RNA	DEL	C	-	-			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr3:129817351delC	uc003ene.2	-	2		c.1160delG			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		TGGTGAATGACCCGGGAAGCT	0.547													---	4	---	---	2	---					
NTN5	126147	broad.mit.edu	37	19	49173724	49173724	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A2NF-06A-11D-A19A-08	TCGA-ER-A2NF-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15daadb0-6b24-4248-9225-470dc08f1552	f0d22e58-5486-47c4-a316-e974e2bcbae6	g.chr19:49173724delG	uc002pkb.3	-	1	616	c.520delC	c.(520-522)cgcfs	p.R174fs	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Frame_Shift_Del_p.R174fs	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	174	Laminin EGF-like 1.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CAGTGGCAGCGGGGGGGCCGG	0.766													---	4	---	---	2	---