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
FAM21C	253725	broad.mit.edu	37	10	46248088	46248088	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:46248088G>A	uc001jcu.3	+	11	1174	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	FAM21C_uc001jcs.2_Silent_p.S297S|FAM21C_uc010qfk.2_Silent_p.S352S|FAM21C_uc010qfi.2_Silent_p.S328S|FAM21C_uc010qfj.2_5'Flank	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	352								p.S351S(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGGACTTCTCGCCATTTGGCT	0.532000													76	117					0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93300426	93300426	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:93300426A>G	uc001doz.3	+	3	358	c.280A>G	c.(280-282)Aat>Gat	p.N94D	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.N44D|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	94					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCCTGACAAATTATGCTGC	0.453000													5	155					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44427675	44427675	+	Silent	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:44427675T>C	uc002zcq.1	+	2	314	c.126T>C	c.(124-126)ccT>ccC	p.P42P	PKNOX1_uc002zcp.1_Silent_p.P42P|PKNOX1_uc011aex.1_5'UTR|PKNOX1_uc002zcr.3_Silent_p.P42P	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	42							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GAGTGAGCCCTCCCCCTGTGG	0.522000													3	151					0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99753343	99753343	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:99753343G>A	uc003utr.3	-	8	1526	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	C7orf43_uc010lgo.3_Missense_Mutation_p.A75V|C7orf43_uc010lgp.3_Missense_Mutation_p.A71V|C7orf43_uc011kjj.2_Missense_Mutation_p.A217V|C7orf43_uc003uts.3_Missense_Mutation_p.A180V	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	449										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGGTGAGCGCGCTGCCCTT	0.657000													4	88					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80121090	80121090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr17:80121090G>A	uc002kdx.1	-	12	2063	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CCDC57_uc010dik.1_Nonsense_Mutation_p.R184*|CCDC57_uc002kdz.1_Nonsense_Mutation_p.R676*	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	676										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTGAGTCGTGTCACCAGC	0.617000													75	124					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361465	62361465	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:62361465C>G	uc001ntq.2	-	17	2279	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.R457P	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	630					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGGGTCGGCGAGCAGCTCG	0.582000											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	57					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrGL000205.1:117582C>G	uc002kgk.4	+	0		c.960C>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000													4	10					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138678882	138678882	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:138678882G>A	uc011mwn.1	-	21	2544	c.2538C>T	c.(2536-2538)agC>agT	p.S846S	MCF2_uc004fav.3_Silent_p.S717S|MCF2_uc004fau.3_Silent_p.S701S|MCF2_uc010nsh.2_Silent_p.S701S|MCF2_uc011mwm.2_Silent_p.S662S|MCF2_uc011mwl.2_Silent_p.S678S|MCF2_uc011mwo.1_Silent_p.S777S|MCF2_uc004faw.2_Silent_p.S761S|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	701					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTATCCAAACGCTGAATCCAC	0.388000													7	53					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430754	37430754	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:37430754T>C	uc021ppc.1	+	6	860	c.761T>C	c.(760-762)gTg>gCg	p.V254A	ANKRD30A_uc001iza.1_Missense_Mutation_p.V254A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	310						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L253F(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCACCCTTGGTGGAAAGAACA	0.502000													3	33					0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520902	153520902	+	Silent	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:153520902T>G	uc001fca.1	-	1	143	c.60A>C	c.(58-60)gcA>gcC	p.A20A	S100A4_uc001fby.3_5'Flank|S100A4_uc001fbz.3_5'Flank|AK307246_uc009wog.1_Non-coding_Transcript	NM_002960	NP_002951	P33764	S10A3_HUMAN	Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA.	20	EF-hand 1.						calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCGCCCTGCGTATTCCT	0.612000													15	189					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811388	7811388	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:7811388G>C	uc011bwk.1	-	8	1280	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C	AFAP1_uc003gkg.1_Missense_Mutation_p.S336C	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	336						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCGTCTGTGGACGGCTTTTT	0.507000													10	22					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190627	153190627	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:153190627C>T	uc011dcy.2	+	15	2620	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W	GRIA1_uc003lva.4_Missense_Mutation_p.R855W|GRIA1_uc003luy.4_Missense_Mutation_p.R855W|GRIA1_uc003luz.4_Missense_Mutation_p.R760W|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R775W|GRIA1_uc011dcx.2_Missense_Mutation_p.R786W|GRIA1_uc011dcz.2_Missense_Mutation_p.R865W	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	855				AGA -> TAP (in Ref. 1; AAA58613).	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGAAGCCATACGGACATCGAC	0.592000													20	34					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7624001	7624001	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:7624001C>G	uc010xjq.2	+	29	3933	c.3693C>G	c.(3691-3693)ttC>ttG	p.F1231L	PNPLA6_uc002mgq.2_Missense_Mutation_p.F1183L|PNPLA6_uc010xjp.2_Missense_Mutation_p.F1156L|PNPLA6_uc002mgr.2_Missense_Mutation_p.F1183L|PNPLA6_uc002mgs.3_Missense_Mutation_p.F1221L	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1222					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGACTGCTTCAAGACCATGG	0.567000													21	37					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123239400	123239400	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:123239400G>T	uc021pzz.1	-	17	3084	c.2437C>A	c.(2437-2439)Cca>Aca	p.P813T	FGFR2_uc021pzv.1_Missense_Mutation_p.P701T|FGFR2_uc021pzw.1_Missense_Mutation_p.P698T|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.P814T|FGFR2_uc010qtl.2_Missense_Mutation_p.P697T|FGFR2_uc010qtm.2_Missense_Mutation_p.P696T|FGFR2_uc001lfg.4_Missense_Mutation_p.P421T|FGFR2_uc001lfk.1_Non-coding_Transcript	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	813					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTTATGTGTGGATACTGAGGA	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				9	79					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52522494	52522494	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:52522494C>A	uc003ded.4	+	15	3120	c.2986C>A	c.(2986-2988)Cgc>Agc	p.R996S	NISCH_uc003dee.4_Missense_Mutation_p.R485S|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	996					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCACTTCCTGCGCGTCTACAA	0.647000													3	86					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49791063	49791063	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:49791063G>A	uc001jgu.3	-	1	466	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ARHGAP22_uc001jgt.3_Missense_Mutation_p.R57C|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R57C|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R63C|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	57	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.R57R(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAAACCAGCGCTGCTGCCAG	0.612000													93	100					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10821136	10821136	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:10821136G>T	uc001mjb.3	-	18	2821	c.1669C>A	c.(1669-1671)Cat>Aat	p.H557N	EIF4G2_uc009ygf.3_Missense_Mutation_p.H763N|EIF4G2_uc001mjc.3_Missense_Mutation_p.H557N|EIF4G2_uc001mjd.3_Missense_Mutation_p.H725N	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	763	MI.				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCTACATGAAGTTTGGGA	0.363000													5	68					0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12626634	12626634	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:12626634T>C	uc003bxf.4	-	14	2070	c.1655A>G	c.(1654-1656)aAc>aGc	p.N552S	RAF1_uc011aut.2_Missense_Mutation_p.N337S|RAF1_uc011auu.2_Missense_Mutation_p.N470S	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	552	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCTCGGTTGTTGATGTGAGA	0.517000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				3	80					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493494	170493494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:170493494C>T	uc002uez.3	+	13	1946	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PPIG_uc010fpx.3_Nonsense_Mutation_p.R561*|PPIG_uc010fpy.3_Nonsense_Mutation_p.R569*|PPIG_uc002ufb.3_Nonsense_Mutation_p.R576*|PPIG_uc002ufd.3_Nonsense_Mutation_p.R573*	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	576	Arg/Ser-rich (RS domain).				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R576*(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAGAAGAGTGCGATCAAGAAC	0.448000													3	47					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172768	51172768	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:51172768A>G	uc021tif.1	-	1	3396	c.3074T>C	c.(3073-3075)cTg>cCg	p.L1025P	SALL1_uc021tid.1_Missense_Mutation_p.L1025P|SALL1_uc021tie.1_Missense_Mutation_p.L1122P|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1122					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAGGGAGCAGAACTGGGGA	0.567000													16	37					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:186276981A>G	uc001gru.4	+	6	2181	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K669K|PRG4_uc009wyl.3_Silent_p.K617K|PRG4_uc009wym.3_Silent_p.K576K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													4	92					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266297	75266297	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr14:75266297G>A	uc001xqj.4	+	4	4421	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.P1433P(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGGGGTCCGATGCAAGCTT	0.483000													4	139					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1789573	1789573	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:1789573C>A	uc002ltw.3	-	22	2866	c.2632G>T	c.(2632-2634)Gct>Tct	p.A878S	ATP8B3_uc002ltv.3_Missense_Mutation_p.A841S|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	878					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGTGCAGCCAGCGGGAGC	0.692000													2	1					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26575312	26575312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:26575312C>G	uc001isp.2	+	12	1778	c.1275C>G	c.(1273-1275)taC>taG	p.Y425*	GAD2_uc001isq.2_Nonsense_Mutation_p.Y425*	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	425					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ATGCCTCCTACCTCTTTCAGC	0.393000													29	39					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280114	39280114	+	Silent	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr17:39280114T>C	uc002hwa.3	-	0	306	c.261A>G	c.(259-261)agA>agG	p.R87R		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	87	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.R87R(6)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGTCTGCAGCAGC	0.677000													4	155					0	0	1	0	0
MRPL47	57129	broad.mit.edu	37	3	179320488	179320488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:179320488C>A	uc003fjz.3	-	1	218	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	MRPL47_uc003fka.3_Intron|MRPL47_uc003fkb.3_Nonsense_Mutation_p.E46*|NDUFB5_uc021xhu.1_5'Flank|NDUFB5_uc003fke.3_5'Flank|NDUFB5_uc003fkd.3_5'Flank|NDUFB5_uc003fkc.3_5'Flank	NM_020409	NP_817125	Q9HD33	RM47_HUMAN	Homo sapiens mitochondrial ribosomal protein L47 (MRPL47), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	66					translation	mitochondrial ribosome	structural constituent of ribosome	p.E66D(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TCAAAAAATTCTTCTAGTCCT	0.373000													27	44					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64491145	64491145	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:64491145T>G	uc010ssp.1	+	14	1859	c.1803T>G	c.(1801-1803)atT>atG	p.I601M	SRGAP1_uc001srv.2_Missense_Mutation_p.I538M	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	601	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACGATCTGATTTCTTGTATCA	0.428000													15	29					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855364	53855364	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:53855364C>T	uc010ydv.1	+	3	1553	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	ZNF845_uc010ydw.1_Missense_Mutation_p.T479I	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTT	0.378000													4	94					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:40580552T>G	uc010xvh.2	-	5	1948	c.1800A>C	c.(1798-1800)caA>caC	p.Q600H	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.Q599H|ZNF780A_uc002omz.3_Missense_Mutation_p.Q599H	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													3	105					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:24669920T>C	uc001iru.4	+	2	880	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_uc001irs.3_Silent_p.P79P|KIAA1217_uc001irt.4_Silent_p.P159P|KIAA1217_uc010qcy.2_Silent_p.P159P|KIAA1217_uc010qcz.2_Silent_p.P159P|KIAA1217_uc001irv.1_Silent_p.P9P|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	159					embryonic skeletal system development	cytoplasm		p.P159L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542000													3	63					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900696	46900696	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:46900696G>A	uc002zhi.3	+	11	2096	c.2075G>A	c.(2074-2076)aGc>aAc	p.S692N	COL18A1_uc002zhg.3_Missense_Mutation_p.S512N	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	927	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGGTGAACAGCTCCGACGTC	0.721000													13	17					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072309	75072309	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:75072309C>T	uc001dgg.3	-	9	1684	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.D283N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	489	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTTCCTGGTCGTCTTCCAAG	0.358000													32	50					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968733	4968733	+	Silent	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrY:4968733C>T	uc004fqo.3	+	1	3848	c.3114C>T	c.(3112-3114)tcC>tcT	p.S1038S	PCDH11Y_uc010nwg.1_Silent_p.S1027S|PCDH11Y_uc004fql.1_Silent_p.S1027S|PCDH11Y_uc004fqm.1_Silent_p.S1027S|PCDH11Y_uc004fqn.1_Silent_p.S1038S|PCDH11Y_uc004fqp.1_Silent_p.S809S	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1038					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCTGTGTCCGTACACACCA	0.403000													4	67					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239096826	239096826	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:239096826G>A	uc002vxv.3	-	4	501	c.371C>T	c.(370-372)gCc>gTc	p.A124V	ILKAP_uc010zns.2_Missense_Mutation_p.A56V|ILKAP_uc002vxw.3_Missense_Mutation_p.A4V|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Intron|ILKAP_uc010znt.1_Missense_Mutation_p.A4V	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	124	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GATGACGTGGGCATCCTGCAT	0.542000													21	18					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31614196	31614196	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:31614196G>A	uc003nvg.4	-	7	1225	c.911C>T	c.(910-912)gCt>gTt	p.A304V	BAG6_uc003nvf.4_Missense_Mutation_p.A298V|BAG6_uc003nvi.4_Missense_Mutation_p.A298V|BAG6_uc003nvh.4_Missense_Mutation_p.A298V|BAG6_uc011dnw.2_Missense_Mutation_p.A298V|BAG6_uc011dnx.2_Missense_Mutation_p.A298V	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	304	4 X 29 AA approximate repeats.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGTGGTGGCAGCAGCACCCAG	0.572000													3	73					0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418675	43418675	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:43418675G>A	uc003ova.3	-	5	963	c.754C>T	c.(754-756)Cct>Tct	p.P252S	DLK2_uc003ovb.3_Missense_Mutation_p.P252S	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	252						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTGGGACAGGTAAGACAAGC	0.672000													34	60					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76532484	76532484	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:76532484T>C	uc002fex.1	+	13	2406	c.2267T>C	c.(2266-2268)cTt>cCt	p.L756P	CNTNAP4_uc002feu.1_Missense_Mutation_p.L752P|CNTNAP4_uc002fev.1_Missense_Mutation_p.L617P|CNTNAP4_uc010chb.1_Missense_Mutation_p.L680P	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	753	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTGGATTGCTTGCTTATAAA	0.393000													17	19					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6738818	6738818	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:6738818G>A	uc003jdx.1	+	2	242	c.113G>A	c.(112-114)aGt>aAt	p.S38N	PAPD7_uc011cmn.2_Missense_Mutation_p.S38N	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	38					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGCAGCTTTAGTACAGGTCTT	0.418000													84	112					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107569561	107569561	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:107569561G>A	uc003vev.2	-	28	5068	c.4907C>T	c.(4906-4908)gCa>gTa	p.A1636V	LAMB1_uc003vew.2_Missense_Mutation_p.A1612V	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1612	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTTTAATTGCCTTCTCTGC	0.418000													8	157					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119176912	119176912	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:119176912T>G	uc003eck.1	-	2	652	c.289A>C	c.(289-291)Aca>Cca	p.T97P	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	97						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACCACACTGTTTTATAAATG	0.383000													4	77					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:139266690T>C	uc003qii.3	-	2	1001	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_uc003qig.4_Missense_Mutation_p.K141R|REPS1_uc011edr.2_Missense_Mutation_p.K141R|REPS1_uc003qij.3_Missense_Mutation_p.K141R|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	141						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478000													4	188					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43654116	43654116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr15:43654116C>A	uc001zrk.1	-	4	1861	c.1714G>T	c.(1714-1716)Gaa>Taa	p.E572*	ZSCAN29_uc001zrj.1_Nonsense_Mutation_p.E452*|ZSCAN29_uc010bdg.1_Nonsense_Mutation_p.E182*|ZSCAN29_uc010bdf.1_Missense_Mutation_p.M500I|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	572					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAATTATCTTCATTCTCAAAT	0.343000													3	48					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153187219	153187219	+	Silent	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:153187219C>A	uc004fjk.2	-	1	169	c.111G>T	c.(109-111)ctG>ctT	p.L37L	ARHGAP4_uc011mzf.2_Silent_p.L14L|ARHGAP4_uc004fjl.2_Silent_p.L37L|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	37	FCH.				Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCGCCCTGCAGCTCCAGGC	0.687000													4	0					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576475	33576475	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:33576475C>A	uc003jia.1	-	18	3819	c.3656G>T	c.(3655-3657)gGa>gTa	p.G1219V	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1134V	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1219	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGCAGTCCTTCCATTAC	0.557000										HNSCC(64;0.19)			48	58					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855365	53855365	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:53855365A>G	uc010ydv.1	+	3	1554	c.1437A>G	c.(1435-1437)acA>acG	p.T479T	ZNF845_uc010ydw.1_Silent_p.T479T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGACATCATCCCTTG	0.378000													4	93					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44585032	44585032	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr22:44585032G>A	uc011aqe.2	+	5	710	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PARVG_uc003bep.3_Missense_Mutation_p.A96T|PARVG_uc011aqf.2_Missense_Mutation_p.A96T|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	96	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGAGGACATCGCCCTGACAGC	0.652000													7	64					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20067611	20067611	+	Silent	SNP	G	G	A	rs144275026		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr13:20067611G>A	uc001umd.3	-	2	253	c.42C>T	c.(40-42)acC>acT	p.T14T	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Silent_p.T14T|TPTE2_uc001ume.3_Silent_p.T14T|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	14						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGCCTCCTCGGTTGTTCCTT	0.373000													9	57					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276961	186276961	+	Missense_Mutation	SNP	A	A	C	rs145338869	byFrequency	TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:186276961A>C	uc001gru.4	+	6	2161	c.2110A>C	c.(2110-2112)Act>Cct	p.T704P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T663P|PRG4_uc009wyl.3_Missense_Mutation_p.T611P|PRG4_uc009wym.3_Missense_Mutation_p.T570P|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	704	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCTAAGGAGACTGCTCCAAC	0.597000													3	76					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71496023	71496023	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr8:71496023G>A	uc003xyo.2	-	8	1012	c.752C>T	c.(751-753)tCt>tTt	p.S251F	TRAM1_uc011lfc.2_Missense_Mutation_p.S220F	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	251	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGCCCACAGAGAAAATCTGCA	0.403000													24	24					0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91230659	91230659	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:91230659A>G	uc003hsv.4	+	1	1564	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K	FAM190A_uc003hsu.3_Silent_p.K408K|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Silent_p.K408K	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	408										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AACATGTAAAAGGGATCCATC	0.358000													3	163					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:62296070A>G	uc001ntl.3	-	4	6119	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1940					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502000													9	237					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120223462	120223462	+	Splice_Site	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:120223462G>A	uc002tma.3	-	5	632	c.406_splice	c.e5-1	p.H136_splice	SCTR_uc002tlz.3_Intron	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	136					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGTAGGAGTGCTGCAGAGAG	0.622000													3	41					0	0	1	0	0
MRAS	22808	broad.mit.edu	37	3	138117381	138117381	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:138117381C>A	uc003esh.4	+	3	1114	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	MRAS_uc011bmi.2_Missense_Mutation_p.Q64K|MRAS_uc003esi.4_Missense_Mutation_p.Q140K|MRAS_uc021xep.1_Missense_Mutation_p.Q64K|MRAS_uc011bmj.2_Missense_Mutation_p.Q64K|MRAS_uc021xeq.1_Missense_Mutation_p.Q140K	NM_012219	NP_036351	O14807	RASM_HUMAN	Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA.	140					Ras protein signal transduction|actin cytoskeleton organization|muscle organ development	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CACCAGGGAGCAAGGAAAAGA	0.512000													3	70					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:74575212_74575213insT	uc001dfy.4	-	4	924_925	c.732_733insA	c.(730-735)aaacagfs	p.K244fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	244	IQ.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													7	91	---	---	---	---					
ZNF718	255403	broad.mit.edu	37	4	195685	195686	+	RNA	INS	-	A	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:195685_195686insA	uc003fzu.1	+	4		c.778_779insA						Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ACTTCATTTCCAAAAAAAGGAC	0.386													2	4	---	---	---	---					
UGT2B10	7365	broad.mit.edu	37	4	69682325	69682326	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:69682325_69682326insC	uc003hee.3	+	0	613_614	c.588_589insC	c.(586-591)gttatgfs	p.V196fs	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	196					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACCTGTTGTTATGTCAAAATT	0.356													25	39	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	C	C	rs36063533		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:7080212_7080213insC	uc001qsh.4	+	1	269	c.126_splice	c.e1+1	p.S42_splice	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	9	---	---	---	---					
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:55759486delT	uc010spk.2	+	0	592	c.592delT	c.(592-594)tttfs	p.F198fs		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393													7	82	---	---	---	---					
USP15	9958	broad.mit.edu	37	12	62785633	62785634	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:62785633_62785634insA	uc001src.2	+	16	2346_2347	c.2271_2272insA	c.(2269-2274)ttgaaafs	p.L757fs	USP15_uc001srb.2_Frame_Shift_Ins_p.L728fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	757					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277													23	28	---	---	---	---					
CXADRP3	440224	broad.mit.edu	37	18	14479021	14479023	+	RNA	DEL	ATC	-	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr18:14479021_14479023delATC	uc010xai.2	-	2		c.541_543delGAT								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		CTGGATAGTAATCATCATAAATT	0.374													5	8	---	---	---	---					
BC128043	0	broad.mit.edu	37	20	25268988	25268995	+	Frame_Shift_Del	DEL	ATGCTGCT	-	-	rs113000806		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr20:25268988_25268995delATGCTGCT	uc010gdm.1	-	0	409_416	c.215_222delAGCAGCAT	c.(214-222)cagcagcatfs	p.Q72fs	PYGB_uc002wup.3_Intron					Homo sapiens cDNA clone IMAGE:40077439.																		TCGGCCTCTGATGCTGCTGGGCCCCAGC	0.654													10	19	---	---	---	---					
