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
GOLGA2P5	55592	broad.mit.edu	37	12	100559710	100559710	+	RNA	SNP	T	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:100559710T>G	uc001tgy.4	-	3		c.710A>C			GOLGA2P5_uc021rcm.1_Intron|GOLGA2P5_uc001tgz.4_Non-coding_Transcript|DQ571064_uc001tha.3_5'Flank					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 2, non-coding RNA.																		CAGAGGCTGGTGCCCGCCTTC	0.602000														70			9		0	0	0.038395	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:4228226G>A	uc003ghp.1	-	0	396	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000														88			3		0	0	0.009096	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22960677	22960677	+	Missense_Mutation	SNP	G	A	A	rs147367612	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:22960677G>A	uc003xcy.3	+	0	351	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TNFRSF10C_uc003xcx.3_Non-coding_Transcript|TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	15					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CGTCGTCATCGTCGCGGTCCT	0.701000														60			6		0	0	0.021553	0	0
PCSK1N	27344	broad.mit.edu	37	X	48690597	48690597	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:48690597C>T	uc004dkz.3	-	1	295	c.269G>A	c.(268-270)cGg>cAg	p.R90Q		NM_013271	NP_037403	Q9UHG2	PCSK1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 inhibitor (PCSK1N), mRNA.	90	ProSAAS(1-180) (By similarity).				neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding										GGCCCGCGCCCGCTCCTGACG	0.766000														40			3		0	0	0.009096	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316442	40316442	+	Silent	SNP	T	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:40316442T>G	uc002omj.3	-	10	2083	c.1803A>C	c.(1801-1803)ccA>ccC	p.P601P	DYRK1B_uc002omi.3_Silent_p.P573P|DYRK1B_uc002omk.3_Silent_p.P561P	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	601					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCGGGAGGGGTGGACGACCTC	0.716000														55			8		0	0	0.013537	0	0
NISCH	11188	broad.mit.edu	37	3	52505887	52505887	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:52505887C>T	uc003ded.4	+	4	601	c.467C>T	c.(466-468)gCc>gTc	p.A156V	NISCH_uc003dec.1_Missense_Mutation_p.A156V	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	156	Necessary for homooligomerization and targeting to endosomes.				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)		CAGCTGTATGCCGTCACGGAG	0.627000											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		318			5		0	0	0.021553	0	0
RPSA	3921	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567000														216			6		0	0	0.058154	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031576	110031576	+	Silent	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110031576G>A	uc001dxr.3	+	6	906	c.891G>A	c.(889-891)gaG>gaA	p.E297E	ATXN7L2_uc001dxs.3_5'UTR	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	297	SCA7.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCCAAGGAGAAGAGCCCAG	0.652000														268			12		0	0	0.010729	0	0
DCT	1638	broad.mit.edu	37	13	95095781	95095781	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:95095781G>T	uc010afh.3	-	8	1816	c.1389C>A	c.(1387-1389)taC>taA	p.Y463*	DCT_uc001vlv.4_Nonsense_Mutation_p.Y430*	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	430					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GAACCATGTTGTACATCCGAT	0.463000														245			33		1.71298e-08	1.77527e-08	0.064281	1	0
COG3	83548	broad.mit.edu	37	13	46066374	46066374	+	Silent	SNP	A	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:46066374A>T	uc001vak.3	+	10	1318	c.1176A>T	c.(1174-1176)acA>acT	p.T392T	COG3_uc001vai.3_Silent_p.T392T|COG3_uc010tfv.2_Silent_p.T229T|COG3_uc010aci.3_Silent_p.T168T	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	Homo sapiens component of oligomeric golgi complex 3 (COG3), mRNA.	392					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi cisterna membrane|Golgi transport complex|cis-Golgi network	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CAAAACCAACATCAAAATTAG	0.353000														158			15		0	0	0.028581	0	0
LRRN2	10446	broad.mit.edu	37	1	204589069	204589069	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204589069C>T	uc021phy.1	-	0	52	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.A18T|LRRN2_uc001hbf.1_Missense_Mutation_p.A18T|LRRN2_uc009xbf.1_Missense_Mutation_p.A18T|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	18					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACAGCGGCAGTGGCACCA	0.647000														98			9		0	0	0.047766	0	0
PTPRO	5800	broad.mit.edu	37	12	15673188	15673188	+	Silent	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673188G>A	uc001rcv.2	+	9	2303	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	PTPRO_uc001rcw.2_Silent_p.V611V	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	611						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTACCATGGTGACGTGGGGAG	0.483000														463			121		0	0	0.048971	0	0
CDK3	1018	broad.mit.edu	37	17	73997474	73997474	+	Missense_Mutation	SNP	G	A	A	rs2069528	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:73997474G>A	uc002jqg.4	+	3	1804	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	CDK3_uc010dgt.3_Intron	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	0	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CAAATTGCCCGGTGCCTTCTG	0.622000														131			5		0	0	0.021553	0	0
NPY2R	4887	broad.mit.edu	37	4	156135813	156135813	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:156135813G>A	uc003ioq.3	+	1	1211	c.722G>A	c.(721-723)cGc>cAc	p.R241H	NPY2R_uc003ior.3_Missense_Mutation_p.R241H|NPY2R_uc021xtm.1_Missense_Mutation_p.R241H	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	241					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TCCTACACTCGCATTTGGAGT	0.448000														344			8		0	0	0.038147	0	0
MN1	4330	broad.mit.edu	37	22	28194933	28194933	+	Silent	SNP	T	C	C	rs34890218		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr22:28194933T>C	uc003adj.3	-	0	2554	c.1599A>G	c.(1597-1599)caA>caG	p.Q533Q		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	533	Poly-Gln.						binding	p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgct	0.652000			T	ETV6	"""AML, meningioma"""									43			3		0	0	0.004672	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														262			7		0	0	0.029380	0	0
SVIP	258010	broad.mit.edu	37	11	22849412	22849412	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:22849412T>G	uc001mqp.4	-	1	151	c.63A>C	c.(61-63)aaA>aaC	p.K21N		NM_148893	NP_683691	Q8NHG7	SVIP_HUMAN	Homo sapiens small VCP/p97-interacting protein (SVIP), mRNA.	21						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						GCTTTGCTCTTTTCTCTTCCT	0.274000														221			12		0	0	0.016723	0	0
FERMT1	55612	broad.mit.edu	37	20	6093196	6093196	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:6093196T>G	uc002wmr.3	-	3	1249	c.460A>C	c.(460-462)Aaa>Caa	p.K154Q	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.K154Q	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	154	FERM.|Poly-Lys.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTATTATTTTTGTCTTTTTTC	0.318000														526			26		0	0	0.021523	0	0
HECW1	23072	broad.mit.edu	37	7	43540839	43540839	+	Silent	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:43540839C>T	uc003tid.1	+	20	4154	c.3549C>T	c.(3547-3549)taC>taT	p.Y1183Y	HECW1_uc011kbi.1_Silent_p.Y1149Y	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1183					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTATGTCCTACGTCCCCCTGC	0.438000														379			46		0	0	0.042209	0	0
GRM6	2916	broad.mit.edu	37	5	178413312	178413312	+	Missense_Mutation	SNP	G	A	A	rs61733863	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:178413312G>A	uc003mjr.3	-	7	2122	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.A231V|GRM6_uc003mjs.1_Missense_Mutation_p.A268V	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	648					detection of visible light|visual perception	integral to plasma membrane		p.A648V(2)|p.A647D(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCACAGACCGCGGCCCCAGG	0.642000														142			7		0	0	0.029380	0	0
CCT6P3	643180	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:64498737C>A	uc003ttt.1	+	0		c.6C>A			CCT6P3_uc010kzt.1_Non-coding_Transcript					Homo sapiens chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 (CCT6P3), non-coding RNA.																		gaggcggtggcggcggcggca	0.786000														62			8		9.70103e-10	1.0146e-09	0.008291	1	0
TTLL9	164395	broad.mit.edu	37	20	30526969	30526969	+	Silent	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:30526969C>T	uc010gdx.1	+	13	1396	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Silent_p.V283V|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	381					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAAGCGAGTCGGGGGCTTTG	0.577000														395			43		0	0	0.048971	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000														35			4		0	0	0.014758	0	0
CDYL2	124359	broad.mit.edu	37	16	80667060	80667060	+	Silent	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:80667060G>A	uc002ffs.3	-	2	795	c.690C>T	c.(688-690)taC>taT	p.Y230Y		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	230						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGTCAAAGACGTAGTCCTTCT	0.502000														650			22		0	0	0.014323	0	0
AACS	65985	broad.mit.edu	37	12	125612743	125612743	+	Missense_Mutation	SNP	A	C	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:125612743A>C	uc001uhc.3	+	12	1552	c.1346A>C	c.(1345-1347)aAt>aCt	p.N449T	AACS_uc001uhd.3_Missense_Mutation_p.N449T|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Missense_Mutation_p.N47T	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	449					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATGGGCCACAATTTTTCTCTT	0.493000														133			24		0	0	0.024334	0	0
SHPRH	257218	broad.mit.edu	37	6	146207836	146207836	+	Silent	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:146207836C>T	uc003qlf.3	-	29	5442	c.5043G>A	c.(5041-5043)gaG>gaA	p.E1681E	SHPRH_uc003qle.3_Intron	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1681					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCATTCAAGCTCTTCAGTTT	0.398000														215			6		0	0	0.029380	0	0
CLCNKA	1187	broad.mit.edu	37	1	16356526	16356526	+	Missense_Mutation	SNP	G	A	A	rs71587743		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:16356526G>A	uc001axu.3	+	13	1444	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.G412E|CLCNKA_uc001axv.3_Missense_Mutation_p.G455E|CLCNKA_uc010obx.1_Missense_Mutation_p.G102E|CLCNKA_uc010oby.1_Missense_Mutation_p.G191E|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	455					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATTGTGACTGGAGGGGTTACC	0.662000														298			15		0	0	0.028581	0	0
CNOT3	4849	broad.mit.edu	37	19	54646728	54646728	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:54646728G>A	uc002qdj.2	+	1	338	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_uc010yel.2_Missense_Mutation_p.R5H|CNOT3_uc002qdi.3_5'UTR|CNOT3_uc002qdk.2_Missense_Mutation_p.R5H|CNOT3_uc010ere.2_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	5					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527000														536			8		0	0	0.047766	0	0
GLI3	2737	broad.mit.edu	37	7	42005706	42005706	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:42005706G>A	uc011kbh.2	-	14	3056	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	GLI3_uc011kbg.2_Missense_Mutation_p.R930W	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	989					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGTGGCGCCGCCCGTAGCCG	0.766000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					60			12		0	0	0.010729	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:106820987C>T	uc001tlp.3	+	12	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_uc001tlq.3_Missense_Mutation_p.L314F	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000														85			13		0	0	0.049695	0	0
YAP1	10413	broad.mit.edu	37	11	101984938	101984938	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:101984938C>T	uc001pgt.3	+	1	773	c.385C>T	c.(385-387)Cca>Tca	p.P129S	YAP1_uc001pgu.3_Missense_Mutation_p.P129S|YAP1_uc001pgv.3_Missense_Mutation_p.P129S|YAP1_uc021qpf.1_Missense_Mutation_p.P129S|YAP1_uc010ruo.2_5'UTR|YAP1_uc001pgw.2_5'UTR	NM_001130145	NP_001181974	P46937	YAP1_HUMAN	Homo sapiens Yes-associated protein 1 (YAP1), transcript variant 1, mRNA.	129					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCATTCCTCTCCAGCTTCTCT	0.507000														295			10		0	0	0.058154	0	0
MED12	9968	broad.mit.edu	37	X	70356862	70356862	+	Missense_Mutation	SNP	A	C	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:70356862A>C	uc004dyy.3	+	37	5733	c.5534A>C	c.(5533-5535)aAc>aCc	p.N1845T	MED12_uc011mpq.1_Missense_Mutation_p.N1845T|MED12_uc004dyz.3_Missense_Mutation_p.N1845T|MED12_uc004dza.3_Missense_Mutation_p.N1692T|MED12_uc010nla.3_Missense_Mutation_p.N471T	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							60			15		0	0	0.024334	0	0
PCDH17	27253	broad.mit.edu	37	13	58208534	58208534	+	Silent	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:58208534C>T	uc001vhq.1	+	0	2746	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	PCDH17_uc010aec.1_Silent_p.G618G	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	618	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGACTTCGGCGAGAGCGGGC	0.657000														451			8		0	0	0.038147	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2641	2641	+	RNA	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrGL000237.1:2641G>A	uc011mgu.1	-	0		c.46C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		cctctaagccgggaacagagc	0.602000														32			4		0	0	0.009096	0	0
C17orf101	79701	broad.mit.edu	37	17	80361874	80361874	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:80361874C>T	uc002ket.2	-	6	790	c.638G>A	c.(637-639)cGc>cAc	p.R213H	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.R213H	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	213	Fe2OG dioxygenase.					integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTGTTTATGCGGGAGAAGAA	0.642000														46			3		0	0	0.004672	0	0
RAD17	5884	broad.mit.edu	37	5	68669707	68669707	+	Silent	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:68669707C>T	uc003jwo.3	+	1	155	c.93C>T	c.(91-93)ggC>ggT	p.G31G	RAD17_uc003jwg.3_Silent_p.G20G|RAD17_uc003jwi.3_Silent_p.G20G|RAD17_uc003jwh.3_Silent_p.G20G|RAD17_uc003jwj.3_Silent_p.G20G|RAD17_uc003jwk.3_Silent_p.G20G|RAD17_uc003jwl.3_Silent_p.G20G|RAD17_uc003jwm.3_5'UTR|RAD17_uc003jwn.3_Intron	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	31					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGTGTAGTGGCGTCTCTACTA	0.363000								Other conserved DNA damage response genes						324			47		0	0	0.048971	0	0
ATP2A2	488	broad.mit.edu	37	12	110765385	110765385	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:110765385A>G	uc001tqk.4	+	7	1221	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	ATP2A2_uc001tql.4_Missense_Mutation_p.M220V|ATP2A2_uc021rdt.1_Missense_Mutation_p.M68V	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	220					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding	p.A219A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGGGAAAGCTATGGGAGTGGT	0.463000														844			30		0	0	0.050027	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338030	72338030	+	RNA	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:72338030G>A	uc010lal.1	-	0		c.1626C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		acttgaacccgggaggcatcg	0.463000														33			3		0	0	0.009096	0	0
CXXC11	285093	broad.mit.edu	37	2	242815481	242815481	+	Splice_Site	SNP	A	C	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:242815481A>C	uc010fzu.1	+	2	1798	c.1775_splice	c.e2+1			NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.							integral to membrane											CCTCTGAGACACCCCCCAACC	0.697000														232			19		0	0	0.030466	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847402	47847402	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:47847402G>A	uc011dwm.2	-	2	1212	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	PTCHD4_uc011dwn.2_Missense_Mutation_p.A140V	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	393						integral to membrane	hedgehog receptor activity										TAGTTGGCCAGCAAAGACCAG	0.453000														153			4		0	0	0.009096	0	0
ZNF687	57592	broad.mit.edu	37	1	151259324	151259324	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:151259324G>A	uc001exq.3	+	1	655	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	ZNF687_uc001exp.1_Missense_Mutation_p.R195Q|ZNF687_uc009wmo.3_Missense_Mutation_p.R186Q|ZNF687_uc009wmp.3_Missense_Mutation_p.R186Q	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	186	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCCCACTCGGGAGGGGGCT	0.622000														429			6		0	0	0.021553	0	0
ST13P4	145165	broad.mit.edu	37	13	50746695	50746695	+	Silent	SNP	A	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:50746695A>G	uc001vej.3	+	0	542	c.471A>G	c.(469-471)ttA>ttG	p.L157L	BCMS_uc010adl.1_Intron|BCMS_uc001vee.1_Intron|BCMS_uc010adm.1_Intron|BCMS_uc010adn.1_Intron|BCMS_uc001vef.1_Intron|BCMS_uc001veg.1_Intron|BCMS_uc010tgn.1_Intron|BCMS_uc001vei.1_Intron|BCMS_uc010ado.1_Intron|BCMS_uc010adp.1_Intron					Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4 (ST13P4), non-coding RNA.																		TCGTCAAATTACAGAAGCCAA	0.478000														680			30		0	0	0.045705	0	0
CPM	1368	broad.mit.edu	37	12	69260780	69260780	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:69260780G>A	uc001sup.3	-	6	897	c.836C>T	c.(835-837)aCg>aTg	p.T279M	CPM_uc001sur.3_Missense_Mutation_p.T279M|CPM_uc001suq.3_Missense_Mutation_p.T279M	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	279					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CAGCTCCAACGTAATTTCAAA	0.383000														404			50		0	0	0.048971	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299463	125299463	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:125299463C>T	uc004euk.2	-	0	618	c.445G>A	c.(445-447)Ggc>Agc	p.G149S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	149										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATGCCGCAGCCCTGGTGGGCC	0.642000														858			9		0	0	0.058154	0	0
SMG1	23049	broad.mit.edu	37	16	18896929	18896929	+	Silent	SNP	A	G	G	rs140363576	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:18896929A>G	uc002dfm.3	-	6	1245	c.882T>C	c.(880-882)tgT>tgC	p.C294C	SMG1_uc010bwb.3_Silent_p.C154C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	294	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAACACATTTACAAAGCAATT	0.373000														320			5		0	0	0.029380	0	0
MEX3B	84206	broad.mit.edu	37	15	82335639	82335639	+	Silent	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr15:82335639G>A	uc002bgq.1	-	1	1887	c.1572C>T	c.(1570-1572)agC>agT	p.S524S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	524					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CAATCACTTCGCTCTCGAAGC	0.637000														394			21		0	0	0.062417	0	0
CPS1	1373	broad.mit.edu	37	2	211532923	211532923	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:211532923G>T	uc010fur.3	+	34	4116	c.4034G>T	c.(4033-4035)gGt>gTt	p.G1345V	CPS1_uc002vee.4_Missense_Mutation_p.G1339V|CPS1_uc010fus.3_Missense_Mutation_p.G888V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1339					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCTTGCTTTGGTGAAGGTATT	0.368000														366			26		2.44723e-14	2.60733e-14	0.024334	1	0
DCHS1	8642	broad.mit.edu	37	11	6652947	6652947	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:6652947C>T	uc001mem.1	-	6	3976	c.3575G>A	c.(3574-3576)aGc>aAc	p.S1192N		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1192	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGTGGTGCTGCGGGGTGG	0.617000														93			5		0	0	0.021553	0	0
RNGTT	8732	broad.mit.edu	37	6	89388128	89388128	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:89388128G>C	uc003pmr.2	-	13	1670	c.1450C>G	c.(1450-1452)Cag>Gag	p.Q484E	RNGTT_uc003pms.2_Missense_Mutation_p.Q461E|RNGTT_uc011dzu.1_Missense_Mutation_p.Q401E|RNGTT_uc003pmt.2_Missense_Mutation_p.Q484E	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	484	GTase.			Q -> P (in Ref. 1; AAB91559).	interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCAACATTCTGAGGAAGTAAC	0.294000														164			6		0	0	0.021553	0	0
OCM	654231	broad.mit.edu	37	7	5923595	5923595	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:5923595C>T	uc003spe.4	+	2	361	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN	Homo sapiens oncomodulin (OCM), mRNA.	90	EF-hand 2.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ATGGCTGCGGCGGATAATGAT	0.498000														129			7		0	0	0.038147	0	0
PSG4	5672	broad.mit.edu	37	19	43411981	43411981	+	Silent	SNP	G	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:43411981G>T	uc002ovj.1	-	3	831	c.732C>A	c.(730-732)acC>acA	p.T244T	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.T84T|PSG4_uc002ovg.1_Silent_p.T244T	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	245	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGTTGTTGATGGTGATGTAAG	0.478000														814			81		4.01556e-35	4.48798e-35	0.048971	1	0
USH2A	7399	broad.mit.edu	37	1	216144050	216144050	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:216144050G>A	uc001hku.1	-	35	7261	c.6874C>T	c.(6874-6876)Cgt>Tgt	p.R2292C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2292	Fibronectin type-III 9.		R -> H (in dbSNP:rs41277210).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCGTAAGCACGATAGCTGAGT	0.418000										HNSCC(13;0.011)				433			6		0	0	0.021553	0	0
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:132458560G>A	uc004exc.1	-	2	536	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_uc011mvg.1_Silent_p.F38F	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	108					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294000														492			26		0	0	0.059317	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673951	20673951	+	Silent	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:20673951C>T	uc001mqd.3	+	14	2460	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	SLC6A5_uc009yic.3_Silent_p.I494I	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	729					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCATCTGGATCCCAATTATGT	0.488000														770			25		0	0	0.024334	0	0
WDR1	9948	broad.mit.edu	37	4	10080533	10080533	+	Silent	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:10080533C>T	uc021xlv.1	-	11	1660	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	WDR1_uc021xlw.1_Silent_p.T319T|WDR1_uc010idm.3_Non-coding_Transcript|MIR3138_uc021xlx.1_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	459					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CAATTGCCACCGTGTCCCCGC	0.592000														259			5		0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179576918	179576918	+	Silent	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179576918C>T	uc021vsy.1	-	92	24132	c.23907G>A	c.(23905-23907)ccG>ccA	p.P7969P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P4630P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8896	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCTTAACCGGCTCCAACT	0.443000														328			15		0	0	0.020292	0	0
ENPP5	59084	broad.mit.edu	37	6	46129388	46129388	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:46129388G>T	uc003oxz.1	-	3	1317	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	ENPP5_uc010jzc.1_3'UTR|ENPP5_uc011dvz.1_Missense_Mutation_p.S276Y|ENPP5_uc003oya.1_Missense_Mutation_p.S370Y	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	370						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CAAATCTGTGGAGTTCATGGC	0.448000														892			33		7.26314e-15	7.8113e-15	0.034045	1	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:20414373G>A	uc003zoe.2	-	4	730	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_uc011lne.1_Silent_p.S125S|MLLT3_uc011lnf.1_Silent_p.S154S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	157	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S157S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527000			T	MLL	ALL									211			5		0	0	0.029380	0	0
APOBR	55911	broad.mit.edu	37	16	28509280	28509280	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:28509280G>A	uc002dqb.2	+	1	2951	c.2918G>A	c.(2917-2919)gGc>gAc	p.G973D	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.G502D	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	964					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GAGGCCATGGGCAGTGCCAGA	0.672000														181			29		0	0	0.034045	0	0
CD209	30835	broad.mit.edu	37	19	7810584	7810584	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:7810584G>A	uc002mht.2	-	3	635	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Nonsense_Mutation_p.Q166*|CD209_uc002mhr.2_Nonsense_Mutation_p.Q166*|CD209_uc002mhs.2_Nonsense_Mutation_p.Q166*|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Nonsense_Mutation_p.Q190*|CD209_uc002mhq.2_Nonsense_Mutation_p.Q190*|CD209_uc002mhv.2_Nonsense_Mutation_p.Q166*|CD209_uc002mhx.2_Nonsense_Mutation_p.Q146*|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	190	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.Q189L(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGATCTCCTGCTGCTTAGAT	0.547000														616			32		0	0	0.021022	0	0
COL2A1	1280	broad.mit.edu	37	12	48372412	48372412	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:48372412C>T	uc001rqu.3	-	41	3044	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.E886K	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	955	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTCCCTTCTCGCCAGGGGGT	0.637000														241			24		0	0	0.016522	0	0
KRT7	3855	broad.mit.edu	37	12	52639214	52639214	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:52639214G>A	uc001saa.1	+	6	1130	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	335	Coil 2.|Rod.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GTTGGAGGCCGCCATTGCCGA	0.657000														134			4		0	0	0.009096	0	0
FLRT2	23768	broad.mit.edu	37	14	86089264	86089264	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:86089264G>A	uc021rxf.1	+	0	1406	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	FLRT2_uc001xvr.3_Missense_Mutation_p.R469H|FLRT2_uc010atd.3_Missense_Mutation_p.R469H	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	469	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTTCAGGAGCGCATAGTCAGC	0.507000														559			9		0	0	0.047766	0	0
ZNF784	147808	broad.mit.edu	37	19	56133798	56133798	+	Silent	SNP	A	C	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:56133798A>C	uc002qll.1	-	1	305	c.291T>G	c.(289-291)ggT>ggG	p.G97G	ZNF784_uc010etb.1_Non-coding_Transcript	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	Homo sapiens zinc finger protein 784 (ZNF784), mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCGGGTCCCCACCCTGCCCGC	0.711000														57			6		0	0	0.047766	0	0
TTN	7273	broad.mit.edu	37	2	179643640	179643640	+	Missense_Mutation	SNP	G	A	A	rs144011561		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179643640G>A	uc021vsy.1	-	23	4394	c.4169C>T	c.(4168-4170)cCg>cTg	p.P1390L	TTN_uc021vsz.1_Missense_Mutation_p.P1344L|TTN_uc021vta.1_Missense_Mutation_p.P1344L|TTN_uc021vtb.1_Missense_Mutation_p.P1344L|TTN_uc002unb.2_Missense_Mutation_p.P1390L|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1390							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGTAAGTCGGAGCTCCAAG	0.388000														318			17		0	0	0.033300	0	0
abParts	0	broad.mit.edu	37	14	107062359	107062359	+	RNA	SNP	G	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:107062359G>T	uc021ser.1	-	150		c.6627C>A								Parts of antibodies, mostly variable regions.																		AGACAGCGCAGATGAGGGACA	0.607000														214			6		2.68362e-12	2.83271e-12	0.013537	1	0
SDK1	221935	broad.mit.edu	37	7	4153009	4153009	+	Missense_Mutation	SNP	G	A	A	rs149058628	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:4153009G>A	uc003smx.3	+	23	3662	c.3523G>A	c.(3523-3525)Gtg>Atg	p.V1175M	SDK1_uc010kso.3_Missense_Mutation_p.V451M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1175	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACCCGACGTGGCTCCAAC	0.612000														689			200		0	0	0.048971	0	0
CALML6	163688	broad.mit.edu	37	1	1848280	1848280	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:1848280G>A	uc001aih.1	+	3	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T		NM_138705	NP_619650	Q8TD86	CALL6_HUMAN	Homo sapiens calmodulin-like 6 (CALML6), mRNA.	115	EF-hand 3.					cytoplasm|nucleus	calcium ion binding	p.A115T(4)|p.A114V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597000														649			7		0	0	0.029380	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76681226	76681226	+	RNA	SNP	G	C	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:76681226G>C	uc003ufy.2	+	4		c.1203G>C								Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA.																		TGTCACACTTGAAGGAGGCAG	0.453000														31			5		0	0	0.058154	0	0
MST1	4485	broad.mit.edu	37	3	49723522	49723522	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:49723522G>A	uc003cxg.3	-	8	1192	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	MST1_uc011bcs.1_Silent_p.G412G|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	360	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R360C(2)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTACAACGCCGGATCTGG	0.697000														115			7		0	0	0.010729	0	0
SYNE1	23345	broad.mit.edu	37	6	152469332	152469332	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:152469332G>A	uc021zhb.1	-	134	25047	c.24824C>T	c.(24823-24825)cCg>cTg	p.P8275L	SYNE1_uc003qos.4_Missense_Mutation_p.P2799L|SYNE1_uc003qot.4_Missense_Mutation_p.P8204L|SYNE1_uc003qou.4_Missense_Mutation_p.P8275L|SYNE1_uc011eez.2_Missense_Mutation_p.P477L|SYNE1_uc003qoq.4_Missense_Mutation_p.P477L|SYNE1_uc003qor.4_Missense_Mutation_p.P1175L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8275					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACACTAGCCGGGGTGTCTCG	0.617000										HNSCC(10;0.0054)				253			6		0	0	0.021553	0	0
CSMD2	114784	broad.mit.edu	37	1	34285425	34285425	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34285425C>T	uc001bxm.1	-	8	1390	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	CSMD2_uc001bxn.1_Missense_Mutation_p.V365I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	365	CUB 3.					integral to membrane|plasma membrane	protein binding	p.C405Y(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGAACTGGACGCTGGATCCT	0.592000														246			13		0	0	0.016723	0	0
HMGB4	127540	broad.mit.edu	37	1	34329991	34329991	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34329991G>A	uc021oky.1	+	0	199	c.199G>A	c.(199-201)Gac>Aac	p.D67N	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.D67N|HMGB4_uc001bxq.3_5'UTR	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	67						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCCAAACTCGACAAAGCCCG	0.458000														584			62		0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:7578413C>G	uc002gim.2	-	4	711	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_uc002gig.1_Missense_Mutation_p.V173L|TP53_uc002gih.3_Missense_Mutation_p.V173L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V41L|TP53_uc010cnf.1_Missense_Mutation_p.V41L|TP53_uc002gii.1_Missense_Mutation_p.V41L|TP53_uc010cni.1_Missense_Mutation_p.V173L|TP53_uc010cnh.1_Missense_Mutation_p.V173L|TP53_uc002gij.2_Missense_Mutation_p.V173L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V80L|TP53_uc002gio.2_Missense_Mutation_p.V41L|TP53_uc010vug.2_Missense_Mutation_p.V134L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(125)|p.V173M(88)|p.V172F(13)|p.V173A(12)|p.V173V(8)|p.V173fs*1(8)|p.V172D(8)|p.0?(8)|p.V172I(7)|p.V173G(6)|p.V80L(6)|p.V41L(6)|p.V172A(4)|p.V173fs*59(4)|p.V172fs*2(4)|p.V172V(4)|p.V172G(4)|p.V80M(3)|p.V41M(3)|p.V157_C176del20(2)|p.V172_R174delVVR(2)|p.V173fs*69(2)|p.P151_V173del23(2)|p.V173fs*23(2)|p.V172_E180delVVRRCPHHE(2)|p.V173W(2)|p.V173fs*8(2)|p.E171_H179delEVVRRCPHH(2)|p.K164_P219del(1)|p.E171fs*61(1)|p.V173E(1)|p.E171fs*1(1)|p.V173fs*7(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.S149fs*72(1)|p.E171_V172delEV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCCTCACAACCTCCGTC	0.662000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				239			36		0	0	0.059317	0	0
AMBRA1	55626	broad.mit.edu	37	11	46568662	46568662	+	Splice_Site	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:46568662C>T	uc001ncv.2	-	4	692	c.378_splice	c.e4+1	p.H126_splice	AMBRA1_uc009ylc.1_Splice_Site_p.H126_splice|AMBRA1_uc001ncu.1_Splice_Site_p.H126_splice|AMBRA1_uc010rgu.1_Splice_Site_p.H126_splice|AMBRA1_uc001ncw.2_Splice_Site_p.H126_splice|AMBRA1_uc001ncx.2_Splice_Site_p.H126_splice	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	126					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAATACTCACGTGTAAATCC	0.463000														347			6		0	0	0.029380	0	0
ASB2	51676	broad.mit.edu	37	14	94405527	94405527	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:94405527T>G	uc001ycd.3	-	7	1914	c.1544A>C	c.(1543-1545)cAc>cCc	p.H515P	ASB2_uc001ycb.2_Missense_Mutation_p.H161P|ASB2_uc001ycc.2_Missense_Mutation_p.H467P|ASB2_uc001yce.1_Missense_Mutation_p.H413P	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	467					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGCCGGCGGGTGCGGGCCGTT	0.692000														47			9		0	0	0.048971	0	0
AVIL	10677	broad.mit.edu	37	12	58207947	58207947	+	Silent	SNP	G	A	A	rs141365699		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:58207947G>A	uc001sqj.2	-	1	158	c.129C>T	c.(127-129)taC>taT	p.Y43Y	AVIL_uc009zqe.2_Silent_p.Y36Y|AVIL_uc001sql.4_Silent_p.Y20Y	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	43	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGGATGACGTAGCAGTCCC	0.607000														111			8		0	0	0.047766	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:1266085C>G	uc001lta.3	+	30	8034	c.7975C>G	c.(7975-7977)Ccc>Gcc	p.P2659A		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).|P -> A (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000														121			3		0	0	0.009096	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454976	66454976	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:66454976G>A	uc001ojd.3	-	33	6716	c.6644C>T	c.(6643-6645)cCa>cTa	p.P2215L	SPTBN2_uc001ojc.1_Missense_Mutation_p.H76Y	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2215					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGGGCAGATGGCTCTGGGCC	0.667000														506			56		0	0	0.048971	0	0
GNE	10020	broad.mit.edu	37	9	36217507	36217507	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:36217507T>C	uc010mlh.3	-	11	2245	c.2024A>G	c.(2023-2025)tAt>tGt	p.Y675C	GNE_uc010mlg.3_Missense_Mutation_p.Y601C|GNE_uc011lpl.2_Missense_Mutation_p.Y565C|GNE_uc010mli.3_Missense_Mutation_p.Y706C|GNE_uc010mlj.3_Missense_Mutation_p.Y670C	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	675	N-acetylmannosamine kinase.		Y -> H (in IBM2).		N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	p.H674H(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AATGTGGATATAGTGACTGGC	0.552000														229			8		0	0	0.047766	0	0
PTPRO	5800	broad.mit.edu	37	12	15673198	15673198	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673198G>C	uc001rcv.2	+	9	2313	c.1843G>C	c.(1843-1845)Gat>Cat	p.D615H	PTPRO_uc001rcw.2_Missense_Mutation_p.D615H	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	615						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GACGTGGGGAGATCCAGAATT	0.478000														452			107		0	0	0.048971	0	0
ZNF618	114991	broad.mit.edu	37	9	116812071	116812071	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:116812071G>T	uc004bid.3	+	14	2588	c.2489G>T	c.(2488-2490)tGt>tTt	p.C830F	ZNF618_uc004bic.3_Missense_Mutation_p.C737F|ZNF618_uc011lxi.2_Missense_Mutation_p.C797F|ZNF618_uc011lxj.2_Missense_Mutation_p.C798F|ZNF618_uc010mvb.3_Missense_Mutation_p.C420F	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGCAAGGTCTGTGAGCTCATC	0.652000														251			57		4.96213e-28	5.49207e-28	0.048971	1	0
SEPT12	124404	broad.mit.edu	37	16	4836091	4836091	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:4836091C>T	uc002cxq.3	-	2	446	c.182G>A	c.(181-183)gGc>gAc	p.G61D	SEPT12_uc002cxr.3_Missense_Mutation_p.G61D|SEPT12_uc010bty.3_Non-coding_Transcript|LOC440335_uc021tcl.1_5'Flank|LOC440335_uc002cxt.3_5'Flank	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	61					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTGGACTTGCCCAGCCCGCT	0.522000														172			16		0	0	0.049695	0	0
BCOR	54880	broad.mit.edu	37	X	39933048	39933048	+	Silent	SNP	G	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:39933048G>A	uc004den.4	-	3	1843	c.1551C>T	c.(1549-1551)aaC>aaT	p.N517N	BCOR_uc004dep.4_Silent_p.N517N|BCOR_uc004deo.4_Silent_p.N517N|BCOR_uc004dem.4_Silent_p.N517N|BCOR_uc004deq.4_Silent_p.N517N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	517					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.N517N(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTCTCTTCGTTAGGACTTG	0.527000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							330			11		0	0	0.008291	0	0
LRRC33	375387	broad.mit.edu	37	3	196387199	196387199	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:196387199C>T	uc003fwv.3	+	2	789	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	229						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CACGCGGCTGCGGGTCCTCAA	0.647000														305			13		0	0	0.020292	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204416603	204416603	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204416603C>T	uc001haw.3	-	15	2929	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	PIK3C2B_uc010pqv.2_Missense_Mutation_p.R817H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	817					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTTAAGCTTGCGCTGGTCTTC	0.557000														245			52		0	0	0.048971	0	0
MAGT1	84061	broad.mit.edu	37	X	77112307	77112307	+	Missense_Mutation	SNP	T	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:77112307T>A	uc004fof.3	-	4	753	c.691A>T	c.(691-693)Att>Ttt	p.I231F	MAGT1_uc004fog.4_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	199					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTCCACCAATAACAGCCAAA	0.363000														482			34		0	0	0.054565	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				117			21		0	0	0.062417	0	0
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													---	28	---	---	10	---					
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110300579_110300580insT	uc001dyr.2	-	8	1043_1044	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_uc001dys.2_Frame_Shift_Ins_p.N273fs|EPS8L3_uc001dyq.2_Frame_Shift_Ins_p.N274fs|EPS8L3_uc009wfm.2_Frame_Shift_Ins_p.N240fs|EPS8L3_uc009wfn.2_Frame_Shift_Ins_p.N248fs|EPS8L3_uc009wfo.2_Frame_Shift_Ins_p.N220fs	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	273						cytoplasm	protein binding	p.N274fs*33(2)|p.K272E(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545													---	863	---	---	7	---					
ALMS1	7840	broad.mit.edu	37	2	73613032	73613037	+	In_Frame_Del	DEL	GGAGGA	-	-	rs72319667		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:73613032_73613037delGGAGGA	uc002sje.1	+	0	147_152	c.36_41delGGAGGA	c.(34-42)ctggaggag>ctg	p.EE27del	ALMS1_uc002sjf.1_In_Frame_Del_p.EE27del	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	27	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E27_E28delEE(2)|p.E28_A29insE(2)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CGGGCGAGCTggaggaggaggaggag	0.694													---	3	---	---	5	---					
DUSP2	1844	broad.mit.edu	37	2	96809973	96809973	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:96809973delA	uc002svk.4	-	2	736	c.650delT	c.(649-651)ttcfs	p.F217fs		NM_004418	NP_004409	Q05923	DUS2_HUMAN	Homo sapiens dual specificity phosphatase 2 (DUSP2), mRNA.	217					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CTTGTAGCGGAAAAGGCCCTC	0.602													---	598	---	---	7	---					
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:160801441_160801442insT	uc002ube.2	-	27	4331_4332	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.K1373fs	PLA2R1_uc010zcp.2_Frame_Shift_Ins_p.K1371fs	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1373	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401													---	835	---	---	9	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	-	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:186544620_186544622delGGT	uc003iyg.3	-	12	2323_2325	c.2291_2293delACC	c.(2290-2295)caccgc>cgc	p.H764del	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_In_Frame_Del_p.H750del|SORBS2_uc003iyl.3_In_Frame_Del_p.H650del|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_In_Frame_Del_p.H554del|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	650						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													---	370	---	---	8	---					
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:43323502delT	uc003oux.3	-	3	1648	c.1570delA	c.(1570-1572)aggfs	p.R524fs	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	524					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													---	1769	---	---	8	---					
HOXA11	3207	broad.mit.edu	37	7	27222462	27222462	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:27222462delT	uc003syx.3	-	1	967	c.895delA	c.(895-897)attfs	p.I299fs	HOXA9_uc022aar.1_5'Flank|HOXA10_uc003syw.4_5'Flank|HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	299					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCTCTGTTAATTTTTTTTTCC	0.448			T	NUP98	CML								---	743	---	---	7	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	-	-	rs11277659		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:131241030_131241035delGGCGAC	uc003vqw.4	-	0	342_347	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													---	11	---	---	7	---					
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:74507471delT	uc003xzm.3	-	10	1432	c.1091delA	c.(1090-1092)aatfs	p.N364fs	STAU2_uc011lfh.2_Frame_Shift_Del_p.N260fs|STAU2_uc003xzn.3_Frame_Shift_Del_p.N332fs|STAU2_uc011lfg.2_Frame_Shift_Del_p.N192fs|STAU2_uc003xzo.3_Frame_Shift_Del_p.N364fs|STAU2_uc003xzq.3_Frame_Shift_Del_p.N144fs|STAU2_uc003xzp.3_Frame_Shift_Del_p.N332fs|STAU2_uc011lfi.2_Frame_Shift_Del_p.N326fs|STAU2_uc010lzk.3_Frame_Shift_Del_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Del_p.N192fs	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)|p.G364V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328													---	494	---	---	10	---					
GRHPR	9380	broad.mit.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	G	G	rs150805048		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:37424907_37424908insG	uc003zzu.1	+	1	190_191	c.149_150insG	c.(148-150)gcgfs	p.A50fs	GRHPR_uc010mlu.3_5'UTR|GRHPR_uc010mlv.1_5'UTR|GRHPR_uc003zzt.1_5'UTR	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN	Homo sapiens glyoxylate reductase/hydroxypyruvate reductase (GRHPR), mRNA.	50					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	NAD binding|glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658													---	330	---	---	10	---					
LYZL1	84569	broad.mit.edu	37	10	29599965	29599965	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:29599965delA	uc001iul.3	+	4	619	c.562delA	c.(562-564)aaafs	p.K188fs		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	Homo sapiens lysozyme-like 1 (LYZL1), mRNA.	142					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GTCCGAGTGGAAAAAAGGCTG	0.512													---	1022	---	---	7	---					
PCDH15	65217	broad.mit.edu	37	10	55582841	55582842	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:55582841_55582842insA	uc010qhy.1	-	34	5060_5061	c.4665_4666insT	c.(4663-4668)tttgtafs	p.F1555fs	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Frame_Shift_Ins_p.F1550fs|PCDH15_uc021pqz.1_Frame_Shift_Ins_p.F1525fs|PCDH15_uc010qhv.1_Frame_Shift_Ins_p.F1545fs|PCDH15_uc010qhw.1_Frame_Shift_Ins_p.F1508fs|PCDH15_uc010qhx.1_Frame_Shift_Ins_p.F1479fs|PCDH15_uc010qhz.1_Frame_Shift_Ins_p.F1550fs|PCDH15_uc010qia.1_Frame_Shift_Ins_p.F1528fs|PCDH15_uc001jju.1_Frame_Shift_Ins_p.F1548fs|PCDH15_uc010qib.1_Frame_Shift_Ins_p.F1525fs	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1548					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1554P(2)|p.I1556M(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATGGGTCTACAAAATCTGTTC	0.411										HNSCC(58;0.16)			---	752	---	---	61	---					
MKI67	4288	broad.mit.edu	37	10	129904534	129904535	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:129904534_129904535insT	uc001lke.3	-	12	5764_5765	c.5569_5570insA	c.(5569-5571)atafs	p.I1857fs	MKI67_uc001lkf.3_Frame_Shift_Ins_p.I1497fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.I1432fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.I1007fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1857	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGCAGAGTATTTTTTTGGTA	0.480													---	1379	---	---	7	---					
USP36	57602	broad.mit.edu	37	17	76800004	76800004	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:76800004delT	uc002jvz.1	-	15	2598	c.2273delA	c.(2272-2274)cacfs	p.H758fs	USP36_uc002jwa.1_Frame_Shift_Del_p.H758fs|USP36_uc002jwb.1_Intron|USP36_uc002jwc.1_Frame_Shift_Del_p.H458fs|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	758					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAATGTGGGGTGGGGGCTGAA	0.627													---	341	---	---	7	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	-	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:1009186_1009188delAGC	uc002lqo.1	+	8	2717_2719	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del	FLJ00277_uc002lqp.1_Non-coding_Transcript	NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	912					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													---	11	---	---	8	---					
PLEKHA4	57664	broad.mit.edu	37	19	49355519	49355530	+	In_Frame_Del	DEL	GTCTCTCTTAAG	-	-	rs147150671	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:49355519_49355530delGTCTCTCTTAAG	uc002pkx.3	-	12	1931_1942	c.1380_1391delCTTAAGAGAGAC	c.(1378-1392)accttaagagagacg>acg	p.460_464TLRET>T	PLEKHA4_uc010eml.3_In_Frame_Del_p.435_439TLRET>T	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	460						cytoplasm|membrane	1-phosphatidylinositol binding	p.G459D(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTACTCCAGCGTCTCTCTTAAGGTGCCCAGCT	0.566													---	464	---	---	22	---					
PLXNA3	55558	broad.mit.edu	37	X	153688565	153688565	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:153688565delG	uc004flm.3	+	1	215	c.42delG	c.(40-42)gtgfs	p.V14fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTTGCCGTGGGGGGGGCCC	0.682													---	690	---	---	8	---					
