Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BHLHE41	79365	broad.mit.edu	37	12	26276075	26276075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr12:26276075G>A	ENST00000242728.4	-	5	720	c.373C>T	c.(373-375)Cag>Tag	p.Q125*		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	125					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						AAGTCGGACTGAATGGGCGAT	0.552000											OREG0021711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352473	20352473	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr16:20352473C>T	ENST00000396134.2	-	8	1739	c.1616G>A	c.(1615-1617)tGc>tAc	p.C539Y	UMOD_ENST00000302509.4_Missense_Mutation_p.C506Y|UMOD_ENST00000570689.1_Missense_Mutation_p.C506Y|UMOD_ENST00000396138.4_Missense_Mutation_p.C555Y|UMOD_ENST00000424589.1_Missense_Mutation_p.C539Y|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Missense_Mutation_p.C506Y	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	506	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTGGCATAGCAGTTGGTCAT	0.542000													9	44					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940601	36940601	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr19:36940601T>C	ENST00000454319.1	-	5	672	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	ZNF566_ENST00000424129.2_Missense_Mutation_p.T179A|ZNF566_ENST00000392170.2_Missense_Mutation_p.T180A|ZNF566_ENST00000434377.2_Missense_Mutation_p.T179A|ZNF566_ENST00000493391.1_Missense_Mutation_p.T75A	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGTCTAAAGGTTTTCCTATAT	0.373000													5	42					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691688	31691688	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr6:31691688C>A	ENST00000375809.3	+	2	345	c.334C>A	c.(334-336)Cac>Aac	p.H112N	C6orf25_ENST00000480039.1_Missense_Mutation_p.H112N|C6orf25_ENST00000375805.2_Missense_Mutation_p.H112N|C6orf25_ENST00000375810.4_Missense_Mutation_p.H112N	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	112						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CAAGGGCCGCCACGAGGACGA	0.657000													70	76					7.25294e-45	8.20192e-45	1	1	0
CST9L	128821	broad.mit.edu	37	20	23546710	23546710	+	Silent	SNP	A	A	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr20:23546710A>G	ENST00000376979.3	-	2	553	c.255T>C	c.(253-255)acT>acC	p.T85T		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	85						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTGAGAATACAGTCTTGGACT	0.458000													20	70					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115750	168115750	+	Silent	SNP	T	T	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr2:168115750T>A	ENST00000409728.1	+	11	2882	c.2793T>A	c.(2791-2793)ggT>ggA	p.G931G	XIRP2_ENST00000409043.1_Silent_p.G898G|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Silent_p.G676G|XIRP2_ENST00000409756.2_Silent_p.G898G|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Silent_p.G931G	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAACACAGGTTTTGATGCTC	0.413000													24	28					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59515824	59515824	+	Silent	SNP	G	G	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr8:59515824G>C	ENST00000038176.3	-	13	1202	c.990C>G	c.(988-990)ctC>ctG	p.L330L	NSMAF_ENST00000427130.2_Silent_p.L361L|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	330	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GGTACTGGGAGAGGTCGTTGC	0.517000													23	121					0	0	1	0	0
ROPN1B	152015	broad.mit.edu	37	3	125701190	125701190	+	Silent	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr3:125701190C>T	ENST00000514116.1	+	6	789	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ROPN1B_ENST00000505382.1_Silent_p.F66F|ROPN1B_ENST00000511082.1_Silent_p.F66F|ROPN1B_ENST00000251776.4_Silent_p.F158F			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	158					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GAATCCCATTCAGCACCTTCC	0.428000													15	59					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80772197	80772197	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr2:80772197C>A	ENST00000466387.1	+	14	2105	c.1381C>A	c.(1381-1383)Cag>Aag	p.Q461K	CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q140K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q461K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q461K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q461K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q461K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q495K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	461					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCTGTGTCCCCAGGTAAGCCT	0.483000													8	21					0.000274275	0.000286097	1	1	0
TTN	7273	broad.mit.edu	37	2	179605437	179605437	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr2:179605437G>C	ENST00000589042.1	-	48	12747	c.12523C>G	c.(12523-12525)Cag>Gag	p.Q4175E	TTN_ENST00000342175.6_Missense_Mutation_p.Q4004E|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q3858E|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q3937E|TTN_ENST00000460472.2_Missense_Mutation_p.Q3812E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3858							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)			AGAACTGCCTGTGTCTCAGGC	0.428000													28	10					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647740	20647740	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr2:20647740G>A	ENST00000272233.4	+	1	906	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	172					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGAGGTCTTCGAGACGGCCAC	0.687000													28	67					0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96124104	96124104	+	Silent	SNP	A	A	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr11:96124104A>T	ENST00000458427.1	+	1	947	c.291A>T	c.(289-291)atA>atT	p.I97I	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Silent_p.I97I	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	97	HTH CENPB-type.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GGAATCCCATATCTGGACCAA	0.443000													8	27					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63282349	63282349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:63282349G>A	ENST00000317868.4	+	4	471	c.264G>A	c.(262-264)tgG>tgA	p.W88*	ATG4C_ENST00000371120.3_Nonsense_Mutation_p.W88*	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	88					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						CTAGAATATGGCTGACCTACA	0.438000													4	23					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61503822	61503822	+	Splice_Site	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr11:61503822G>A	ENST00000257215.5	+	13	1487	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	457					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGCGAGACCTGGTGAGGAATT	0.562000													12	48					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	53					0	0	1	0	0
TRAV3	28690	broad.mit.edu	37	14	22192349	22192349	+	RNA	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr14:22192349T>C	ENST00000390425.2	+	0	300																											GACTGTGAAATGCACCTATTC	0.473000													39	16					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57737776	57737776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:57737776G>T	ENST00000269122.3	+	7	1268	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Nonsense_Mutation_p.E332*	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	332	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGTGGAAGAAGAAAACATAAT	0.373000			T	"""ALK, TFE3"""	"""ALCL, renal """								10	80					0.000442599	0.000453852	1	1	0
PIGA	5277	broad.mit.edu	37	X	15343168	15343168	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chrX:15343168C>A	ENST00000333590.4	-	4	1039	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L	PIGA_ENST00000428964.1_Missense_Mutation_p.V4L|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Missense_Mutation_p.V85L	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	319					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GCTGCTTCCACGATCGCCATG	0.383000													3	25					0.00909568	0.00917148	1	1	0
TTN	7273	broad.mit.edu	37	2	179665393	179665393	+	Silent	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr2:179665393G>A	ENST00000589042.1	-	4	536	c.312C>T	c.(310-312)ccC>ccT	p.P104P	TTN_ENST00000342175.6_Silent_p.P104P|TTN_ENST00000342992.6_Silent_p.P104P|TTN_ENST00000591111.1_Silent_p.P104P|TTN_ENST00000360870.5_Silent_p.P104P|TTN_ENST00000359218.5_Silent_p.P104P|TTN_ENST00000460472.2_Silent_p.P104P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	104	Ig-like 2.						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)			GAACGAAGTTGGGTGGTGCTG	0.498000													30	14					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43237072	43237072	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr19:43237072G>T	ENST00000327495.5	-	3	757	c.573C>A	c.(571-573)caC>caA	p.H191Q	PSG3_ENST00000595140.1_Missense_Mutation_p.H191Q	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	191	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ACTGCAAGCTGTGAGTCATAG	0.502000													24	283					3.6726e-16	4.07693e-16	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	53					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33893707	33893707	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr15:33893707C>T	ENST00000389232.4	+	17	1946	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	RYR3_ENST00000415757.3_Missense_Mutation_p.R626W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	626	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTGCTGCCCCGGAGAAACCT	0.522000													11	16					0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57618770	57618770	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr12:57618770C>T	ENST00000349394.5	+	2	342	c.167C>T	c.(166-168)tCg>tTg	p.S56L	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	56	II.			S -> T (in Ref. 3; AAH36679).	neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						CCAAGGTCTTCGGACGGCCTA	0.776000													2	2					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436765	248436765	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:248436765A>G	ENST00000318021.2	-	1	373	c.352T>C	c.(352-354)Tat>Cat	p.Y118H		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TAGCGGTCATAGGCCATGGCT	0.602000													13	55					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73609545	73609545	+	Silent	SNP	C	C	T	rs138158412		TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:73609545C>T	ENST00000265753.8	+	7	793	c.654C>T	c.(652-654)gtC>gtT	p.V218V	EIF4H_ENST00000353999.6_Silent_p.V198V	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	218					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						CTCGAACAGTCGCGACGCCCC	0.532000													8	75					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93530797	93530797	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr11:93530797G>C	ENST00000251871.3	+	8	1527	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	414					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCAAGCTTTTGATAAAAATGA	0.373000													35	115					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585919	82585919	+	Silent	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:82585919C>T	ENST00000333891.9	-	5	4687	c.4350G>A	c.(4348-4350)gaG>gaA	p.E1450E	PCLO_ENST00000423517.2_Silent_p.E1450E	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGAGTTTTCTCTTGGTCTT	0.363000													9	30					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66942339	66942339	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr16:66942339G>A	ENST00000299752.4	-	18	2639	c.2446C>T	c.(2446-2448)Ccg>Tcg	p.P816S	CDH16_ENST00000568632.1_Missense_Mutation_p.P719S|CDH16_ENST00000565796.1_Missense_Mutation_p.P777S|CDH16_ENST00000570262.1_Missense_Mutation_p.P736S|CDH16_ENST00000394055.3_Missense_Mutation_p.P794S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	816					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTTGATCCGGGTCCTTCTTC	0.592000													29	52					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9854684	9854684	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr3:9854684C>T	ENST00000547186.1	+	3	322	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.R130W|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000426895.4_Missense_Mutation_p.R179W|TTLL3_ENST00000397241.1_5'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	36					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TCTCTTGCGCCGGAGGGGCTG	0.537000													9	27					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51331030	51331030	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr19:51331030C>A	ENST00000326856.4	-	3	211	c.82G>T	c.(82-84)Gca>Tca	p.A28S	KLK15_ENST00000301421.2_Missense_Mutation_p.A29S|KLK15_ENST00000598239.1_Missense_Mutation_p.A29S|KLK15_ENST00000416184.1_Missense_Mutation_p.A29S|KLK15_ENST00000596931.1_Missense_Mutation_p.A28S	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	29	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GAGTGGGGTGCACACTCGTCA	0.587000													10	56					0.000442599	0.000453852	1	1	0
DCTN2	10540	broad.mit.edu	37	12	57929310	57929310	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr12:57929310C>G	ENST00000548249.1	-	4	488	c.221G>C	c.(220-222)gGa>gCa	p.G74A	DCTN2_ENST00000537439.1_Missense_Mutation_p.G51A|DCTN2_ENST00000434715.3_Missense_Mutation_p.G79A|DCTN2_ENST00000551400.1_5'UTR|DCTN2_ENST00000543672.1_Missense_Mutation_p.G79A	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	74					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CTTGGTTTTTCCAATACGATC	0.463000													14	36					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206651603	206651603	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:206651603A>G	ENST00000367120.3	+	9	1286	c.913A>G	c.(913-915)Atc>Gtc	p.I305V	IKBKE_ENST00000537984.1_Missense_Mutation_p.I220V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	305	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GACCAGTGACATCCTGCAGCG	0.612000													21	72					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437138	120437138	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:120437138C>A	ENST00000369400.1	-	1	1980	c.1822G>T	c.(1822-1824)Gat>Tat	p.D608Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	608	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GAGGTGCCATCATTTATCATA	0.438000													11	60					1.58986e-06	1.68749e-06	1	1	0
PARP4	143	broad.mit.edu	37	13	25066624	25066624	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr13:25066624G>A	ENST00000381989.3	-	9	1093	c.988C>T	c.(988-990)Cac>Tac	p.H330Y		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	330	PARP alpha-helical.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTGCCTTTGTGAGGTATCAGT	0.413000													16	21					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996707	98996707	+	Silent	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr2:98996707G>A	ENST00000393504.1	+	4	702	c.285G>A	c.(283-285)ccG>ccA	p.P95P	CNGA3_ENST00000436404.2_Silent_p.P95P|CNGA3_ENST00000409937.1_Silent_p.P99P|CNGA3_ENST00000272602.2_Silent_p.P95P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	95					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACCAGGGACCGGACTCTTTTC	0.602000													10	54					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62164040	62164040	+	Splice_Site	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr20:62164040T>C	ENST00000217185.2	-	5	698	c.671A>G	c.(670-672)gAc>gGc	p.D224G	PTK6_ENST00000542869.1_Splice_Site_p.D123G	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	224	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CAGGAGGTTGTCTGCGGGGAC	0.662000													15	37					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48500447	48500447	+	Silent	SNP	G	G	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr20:48500447G>T	ENST00000417961.1	+	14	1593	c.1383G>T	c.(1381-1383)cgG>cgT	p.R461R	SLC9A8_ENST00000539601.1_Silent_p.R226R|SLC9A8_ENST00000361573.2_Silent_p.R445R|SLC9A8_ENST00000541138.1_Silent_p.R145R	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	445						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGAGAAGCGGCAGCTCATCG	0.622000													31	51					2.47511e-08	2.674e-08	1	1	0
CHST5	23563	broad.mit.edu	37	16	75563650	75563650	+	Silent	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr16:75563650G>A	ENST00000336257.3	-	3	2027	c.633C>T	c.(631-633)agC>agT	p.S211S	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S217S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	211					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCGCGGGGTCGCTGAGCAGCG	0.706000													7	138					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2102436	2102436	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr12:2102436C>A	ENST00000280665.6	-	3	392	c.313G>T	c.(313-315)Gcc>Tcc	p.A105S	DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	105					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TCACATCTGGCATTTCTGTAG	0.388000													35	75					5.43694e-19	6.09138e-19	1	1	0
CALD1	800	broad.mit.edu	37	7	134617837	134617837	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:134617837G>C	ENST00000361388.2	+	5	783	c.317G>C	c.(316-318)aGa>aCa	p.R106T	CALD1_ENST00000543443.1_Missense_Mutation_p.R111T|CALD1_ENST00000361675.2_Missense_Mutation_p.R106T|CALD1_ENST00000495522.1_Missense_Mutation_p.R100T|CALD1_ENST00000422748.1_Missense_Mutation_p.R106T|CALD1_ENST00000417172.1_Missense_Mutation_p.R106T|CALD1_ENST00000424922.1_Missense_Mutation_p.R100T|CALD1_ENST00000361901.2_Missense_Mutation_p.R106T|CALD1_ENST00000393118.2_Missense_Mutation_p.R100T	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	313	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CGTGAGGAAAGACGCCAAAAA	0.552000													11	47					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535182	15535182	+	Silent	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr19:15535182T>C	ENST00000389282.4	-	9	4821	c.4608A>G	c.(4606-4608)gaA>gaG	p.E1536E	WIZ_ENST00000599910.2_Silent_p.E853E|WIZ_ENST00000599686.3_Silent_p.E720E|WIZ_ENST00000263381.7_Silent_p.E679E|WIZ_ENST00000545156.1_Silent_p.E850E			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1536						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTTGTCGGCGTTCAAATTCTA	0.612000													12	35					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120809280	120809280	+	Silent	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr8:120809280G>A	ENST00000378164.2	-	8	1339	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	347					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCAAGGATTGGGCTAAACACC	0.363000													6	44					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510385	9510385	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr20:9510385C>T	ENST00000246070.2	+	6	1253	c.761C>T	c.(760-762)gCg>gTg	p.A254V	LAMP5_ENST00000427562.2_Missense_Mutation_p.A210V	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	254						integral to membrane		p.A254V(1)									GTAACACTCGCGATTTACCAC	0.547000													20	31					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858613	149858613	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:149858613G>A	ENST00000331380.2	+	1	89	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	30					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGGTAGGGCGAGTGCACCGC	0.672000													17	77					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13891183	13891183	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr5:13891183G>A	ENST00000265104.4	-	17	2583	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	827	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATCAATGCGGAACTCAATC	0.413000									Kartagener syndrome				9	140					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20072067	20072067	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:20072067T>C	ENST00000294543.6	-	10	1076	c.835A>G	c.(835-837)Atc>Gtc	p.I279V	TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000375127.1_Missense_Mutation_p.I279V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	279						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCGATGGTGATGTGCAGCTGC	0.592000													33	96					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25181943	25181943	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:25181943G>A	ENST00000409280.1	-	9	1176	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	C7orf31_ENST00000283905.3_Missense_Mutation_p.P290S			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	290										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGGTCCATGGGCCCCAGACCT	0.408000													7	27					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846129	55846129	+	Silent	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr12:55846129C>T	ENST00000322678.1	+	1	132	c.132C>T	c.(130-132)atC>atT	p.I44I	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I44I(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGACTATTATCACCCTCACAT	0.423000													16	21					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237919	56237919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr11:56237919G>A	ENST00000312240.2	-	1	95	c.55C>T	c.(55-57)Cga>Tga	p.R19*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGCCATTCTCGACGGCTCGTT	0.403000													5	37					0	0	1	0	0
SPATA31D4	389761	broad.mit.edu	37	9	84547984	84547984	+	RNA	SNP	A	A	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr9:84547984A>G	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							TCTAAGTCTCATAGACGAAGC	0.453000													3	15					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76502866	76502866	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:76502866C>T	ENST00000389840.5	-	30	4851	c.4727G>A	c.(4726-4728)cGg>cAg	p.R1576Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1577Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAAATAGAACCGGGGGAAAGC	0.552000													11	113					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605142	142605142	+	Splice_Site	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chrX:142605142C>T	ENST00000370503.2	-	1	161	c.78G>A	c.(76-78)gaG>gaA	p.E26E		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	26										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					acaATCTTACCTCATCATTTT	0.463000													36	12					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100484750	100484750	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr3:100484750C>A	ENST00000471714.1	-	62	4867	c.4758G>T	c.(4756-4758)aaG>aaT	p.K1586N	ABI3BP_ENST00000383691.4_Missense_Mutation_p.K838N|ABI3BP_ENST00000284322.5_Missense_Mutation_p.K884N			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	884						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGGACTTGTTCTTCCCACTGA	0.373000													4	7					1.024e-07	1.0965e-07	1	1	0
C11orf35	256329	broad.mit.edu	37	11	555006	555006	+	Missense_Mutation	SNP	T	T	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr11:555006T>G	ENST00000329451.3	-	14	1941	c.1879A>C	c.(1879-1881)Acc>Ccc	p.T627P		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	627										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGTCCGCGGTGACCGGCAGG	0.756000													4	1					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132985	7132985	+	Silent	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:7132985G>A	ENST00000005340.5	-	6	951	c.669C>T	c.(667-669)tcC>tcT	p.S223S	DVL2_ENST00000575458.1_Silent_p.S217S|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	223					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTGCTCCGTGGAGCTGCTGA	0.607000													22	56					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411007	130411007	+	Silent	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chrX:130411007C>T	ENST00000370904.1	-	20	3397	c.2487G>A	c.(2485-2487)tcG>tcA	p.S829S	IGSF1_ENST00000370903.3_Silent_p.S843S|IGSF1_ENST00000361420.3_Silent_p.S838S|IGSF1_ENST00000370910.1_Silent_p.S829S|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	838	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.S838S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAATGCCCACCGAAATGATTA	0.493000													60	206					0	0	1	0	0
ARF3	377	broad.mit.edu	37	12	49332745	49332745	+	Silent	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr12:49332745G>A	ENST00000256682.4	-	5	865	c.531C>T	c.(529-531)ctC>ctT	p.L177L	AC073610.5_ENST00000537495.1_Silent_p.L52L|ARF3_ENST00000447318.2_Silent_p.L140L|ARF3_ENST00000541959.1_Silent_p.L177L|RP11-302B13.5_ENST00000398092.4_Intron	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	177					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						TCTTGTTTTTGAGCTGATTGG	0.582000													4	29					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44121325	44121325	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:44121325C>G	ENST00000372396.3	+	3	336	c.202C>G	c.(202-204)Cct>Gct	p.P68A	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	68					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTTGGTCATTCCTGCCCCCAT	0.468000													14	35					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2141890	2141890	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr16:2141890G>T	ENST00000262304.4	-	41	11637	c.11429C>A	c.(11428-11430)tCc>tAc	p.S3810Y	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.S3809Y	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3810					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACGGCACAGGAGCCCCAGGA	0.721000													16	18					1.5739e-10	1.71569e-10	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7681476	7681476	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:7681476G>A	ENST00000572933.1	+	34	6789	c.5329G>A	c.(5329-5331)Gtc>Atc	p.V1777I	DNAH2_ENST00000389173.2_Missense_Mutation_p.V1777I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1777	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGCCGGCTCGTCATCACCCC	0.557000													8	22					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72040576	72040576	+	RNA	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:72040576G>A	ENST00000343721.5	-	0	1097				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ATAATGCCCAGTGAGGAGTTC	0.423000													10	39					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149681715	149681715	+	Silent	SNP	C	C	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr5:149681715C>A	ENST00000328668.7	-	1	801	c.222G>T	c.(220-222)ctG>ctT	p.L74L		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	74						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCCTGTCCAGCGTAGGGG	0.617000													5	7					0.00116845	0.00118808	1	1	0
PSPN	5623	broad.mit.edu	37	19	6375860	6375860	+	Translation_Start_Site	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr19:6375860T>C	ENST00000597721.1	-	1	3209	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PSPN_ENST00000245810.1_Start_Codon_SNP_p.M1V			O60542	PSPN_HUMAN	persephin	1					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						CCTACGGCCATTGTGACGGGC	0.672000													10	24					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	917214	917214	+	Missense_Mutation	SNP	T	T	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr5:917214T>A	ENST00000166345.3	+	13	1651	c.1295T>A	c.(1294-1296)aTc>aAc	p.I432N	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	432					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCAGCTTACATCTGATCCTGG	0.557000													9	54					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232384	117232384	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:117232384G>A	ENST00000003084.6	+	14	2295	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	CFTR_ENST00000454343.1_Missense_Mutation_p.M660I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	721					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CCTTACAAATGAATGGCATCG	0.433000									Cystic Fibrosis				7	23					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090120	50090120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr5:50090120G>T	ENST00000281631.5	+	11	975	c.817G>T	c.(817-819)Gag>Tag	p.E273*	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Nonsense_Mutation_p.E252*|PARP8_ENST00000514342.2_Nonsense_Mutation_p.E26*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.E273*|PARP8_ENST00000514067.2_Nonsense_Mutation_p.E273*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.E273*	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	273						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AAAGTTGTCAGAGAAGAAAGT	0.398000													5	21					0.0215528	0.0215528	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44555565	44555565	+	Splice_Site	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:44555565C>T	ENST00000289547.4	-	19	3770		c.e19-1		NPC1L1_ENST00000546276.1_Splice_Site|NPC1L1_ENST00000381160.3_Splice_Site	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1						cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGCAAACACCTGGGGGGTTC	0.642000													9	15					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13709067	13709067	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr20:13709067C>G	ENST00000202816.1	-	11	2103	c.1996G>C	c.(1996-1998)Gat>Cat	p.D666H		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	666	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCATTCAAATCAACATCAGAG	0.328000													3	15					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39832814	39832814	+	Missense_Mutation	SNP	A	A	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr6:39832814A>C	ENST00000538976.1	+	5	574	c.392A>C	c.(391-393)gAa>gCa	p.E131A	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.E131A|DAAM2_ENST00000398904.2_Missense_Mutation_p.E131A	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	131	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAAGTCGTGGAAGACCTGAAG	0.562000											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72367943	72367943	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:72367943C>T	ENST00000335666.4	+	4	641	c.593C>T	c.(592-594)gCg>gTg	p.A198V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	198						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TACCTTCTGGCGCTCACAGCC	0.667000													5	30					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198685816	198685816	+	Missense_Mutation	SNP	G	G	A	rs140403368	byFrequency	TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:198685816G>A	ENST00000367376.2	+	13	1462	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	PTPRC_ENST00000348564.6_Missense_Mutation_p.D272N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D433N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D270N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D383N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	431	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTCAGAAAAAGATTGCCTCAA	0.299000													3	22					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102915967	102915967	+	RNA	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:102915967G>A	ENST00000312132.4	-	0	812																											AAATTAATTCGTTAGAAGAAG	0.453000													4	9					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912486	32912486	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr13:32912486C>G	ENST00000544455.1	+	11	4221	c.3994C>G	c.(3994-3996)Cat>Gat	p.H1332D	BRCA2_ENST00000380152.3_Missense_Mutation_p.H1332D	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1332					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGAAATTCTCATAACTTAGA	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	10					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6935421	6935421	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr12:6935421G>A	ENST00000311268.3	+	4	1905	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	GPR162_ENST00000382315.3_Missense_Mutation_p.G69E|GPR162_ENST00000428545.2_Missense_Mutation_p.G89E	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	373						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GATGCTAACGGAGCCACAGGA	0.562000											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	30					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757895	17757895	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr11:17757895G>A	ENST00000379472.3	+	1	376	c.346G>A	c.(346-348)Gag>Aag	p.E116K	KCNC1_ENST00000265969.6_Missense_Mutation_p.E116K	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	116						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCGCGACGCCGAGGAGGCTCT	0.716000													4	18					0	0	1	0	0
STAR	6770	broad.mit.edu	37	8	38006246	38006246	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr8:38006246T>C	ENST00000276449.4	-	2	537	c.91A>G	c.(91-93)Atc>Gtc	p.I31V		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	31					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TCCTGGCTGATGGCCATCACA	0.612000													28	22					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829005	72829005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr16:72829005G>A	ENST00000268489.5	-	9	8248	c.7576C>T	c.(7576-7578)Cag>Tag	p.Q2526*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q1612*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2526					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGATTAGCTGAGGAGGTAGG	0.582000													15	89					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69323998	69323998	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr15:69323998G>C	ENST00000260364.5	+	5	713	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	NOX5_ENST00000530406.2_Missense_Mutation_p.E128Q|NOX5_ENST00000388866.3_Missense_Mutation_p.E156Q|NOX5_ENST00000448182.3_Missense_Mutation_p.E110Q|NOX5_ENST00000455873.3_Missense_Mutation_p.E121Q			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	156	EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTGTCTGCGCGAGAGCGCCAT	0.667000													11	16					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44098978	44098978	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:44098978G>C	ENST00000494774.1	+	10	885	c.864G>C	c.(862-864)caG>caC	p.Q288H	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Missense_Mutation_p.Q239H|DBNL_ENST00000452943.1_Missense_Mutation_p.Q263H|DBNL_ENST00000440166.1_Missense_Mutation_p.Q184H|DBNL_ENST00000490734.2_Missense_Mutation_p.Q193H|DBNL_ENST00000448521.1_Missense_Mutation_p.Q287H|DBNL_ENST00000468694.1_Missense_Mutation_p.Q296H	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	287					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CCTTCCTGCAGAAGCAGCTCA	0.597000													11	42					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103268775	103268775	+	Silent	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr13:103268775T>C	ENST00000376052.3	+	4	436	c.420T>C	c.(418-420)ccT>ccC	p.P140P	TPP2_ENST00000376065.4_Silent_p.P140P			P29144	TPP2_HUMAN	tripeptidyl peptidase II	140					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGGGACCCTGTTCACAGAG	0.408000													16	31					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66356136	66356136	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr4:66356136G>A	ENST00000273854.3	-	5	1961	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	EPHA5_ENST00000511294.1_Missense_Mutation_p.A454V|EPHA5_ENST00000354839.4_Missense_Mutation_p.A454V|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	454	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.A454D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATACTGCCGGGCTCCTGGGCT	0.463000										TSP Lung(17;0.13)			26	37					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729877	237729877	+	Silent	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:237729877C>T	ENST00000366574.2	+	28	3542	c.3225C>T	c.(3223-3225)gcC>gcT	p.A1075A	RYR2_ENST00000360064.6_Silent_p.A1073A|RYR2_ENST00000542537.1_Silent_p.A1059A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1075	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCCAGAGCCGAAGTGTGCA	0.483000													12	18					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73967273	73967273	+	Missense_Mutation	SNP	A	A	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr14:73967273A>C	ENST00000553558.1	-	12	2588	c.2267T>G	c.(2266-2268)cTg>cGg	p.L756R	HEATR4_ENST00000334988.2_Missense_Mutation_p.L756R|HEATR4_ENST00000560393.1_Missense_Mutation_p.L709R	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCGGATCTGCAGGGCACCAGC	0.532000													7	52					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139748775	139748775	+	Silent	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr9:139748775C>T	ENST00000445819.1	+	7	833	c.783C>T	c.(781-783)aaC>aaT	p.N261N	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.N261N			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	261	LDL-receptor class A 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGATGAGAACCCACTCACCT	0.667000													3	13					0	0	1	0	0
RNGTT	8732	broad.mit.edu	37	6	89479549	89479549	+	Silent	SNP	A	A	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr6:89479549A>G	ENST00000369485.4	-	13	1569	c.1383T>C	c.(1381-1383)ccT>ccC	p.P461P	RNGTT_ENST00000538899.1_Silent_p.P378P|RNGTT_ENST00000265607.6_Silent_p.P438P|RNGTT_ENST00000369475.3_Silent_p.P461P	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	461	GTase.				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)		TCAGACTGGGAGGCTTCCATT	0.323000													3	14					0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171632	153171632	+	Silent	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chrX:153171632C>T	ENST00000358927.2	+	3	881	c.672C>T	c.(670-672)tgC>tgT	p.C224C	AVPR2_ENST00000337474.5_Silent_p.C224C|AVPR2_ENST00000370049.1_Silent_p.C224C			P30518	V2R_HUMAN	arginine vasopressin receptor 2	224					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCGCCGCCTGCCAGGTGCTCA	0.677000													73	11					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39570477	39570477	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr18:39570477A>G	ENST00000262039.4	+	6	759	c.673A>G	c.(673-675)Aag>Gag	p.K225E	PIK3C3_ENST00000398870.3_Missense_Mutation_p.K162E	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	225					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TCGATGTGTCAAGTGTGATGA	0.299000										TSP Lung(28;0.18)			6	13					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104147103	104147103	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr12:104147103C>T	ENST00000388887.2	+	61	6890	c.6686C>T	c.(6685-6687)aCc>aTc	p.T2229I	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2229	Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCATGGCAACCTACAACCAG	0.547000													13	32					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647259	33647259	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr16:33647259T>C	ENST00000558425.1	-	2	340	c.341A>G	c.(340-342)tAc>tGc	p.Y114C																								TTTCACACAGTAATACACAGC	0.557000													52	159					0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102799279	102799279	+	Silent	SNP	G	G	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr10:102799279G>C	ENST00000393459.1	+	12	1376	c.903G>C	c.(901-903)ctG>ctC	p.L301L	SFXN3_ENST00000466982.1_3'UTR|SFXN3_ENST00000224807.5_Silent_p.L305L			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	305					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AACCAGAGCTGAGAGCTCAGA	0.547000													34	70					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324258	152324258	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr1:152324258C>T	ENST00000388718.5	-	3	6076	c.6004G>A	c.(6004-6006)Gca>Aca	p.A2002T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2002							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGTATCTGCTGTTTGTCCA	0.512000													65	261					0	0	1	0	0
TRIM74	378108	broad.mit.edu	37	7	72430563	72430563	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:72430563C>G	ENST00000285805.3	-	4	914	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	TRIM74_ENST00000395244.1_Missense_Mutation_p.E239Q	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	239						intracellular	zinc ion binding			prostate(1)	1						CAGATGAACTCATGGTGGTCC	0.632000													15	64					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425800	49425800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr12:49425800G>A	ENST00000301067.7	-	39	12687	c.12688C>T	c.(12688-12690)Cag>Tag	p.Q4230*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGCTGCAGCTGCCGCTGCATG	0.632000													17	15					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97851743	97851743	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:97851743C>T	ENST00000447648.2	-	22	3318	c.3019G>A	c.(3019-3021)Ggc>Agc	p.G1007S	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.G1009S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1007						integral to membrane	protein binding	p.G1008S(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAGGCGGAGCCGTCCCTTGCC	0.682000													4	13					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175174	112175174	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr5:112175174G>A	ENST00000457016.1	+	16	4263	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.E1295K|APC_ENST00000508376.2_Missense_Mutation_p.E1295K			P25054	APC_HUMAN	adenomatous polyposis coli	1295	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1295*(4)|p.T1293fs*2(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GACGACACAGGAAGCAGATTC	0.378000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	15					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17079788	17079788	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:17079788A>G	ENST00000395811.5	+	20	2847	c.2758A>G	c.(2758-2760)Att>Gtt	p.I920V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.I920V|MPRIP_ENST00000395804.3_Missense_Mutation_p.I920V|MPRIP_ENST00000444976.1_Missense_Mutation_p.I882V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	920						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAAACAGGAGATTAGCTCCCT	0.532000													20	56					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83945958	83945958	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr16:83945958G>A	ENST00000262430.4	+	4	953	c.934G>A	c.(934-936)Gtc>Atc	p.V312I	RP11-505K9.4_ENST00000566309.1_Missense_Mutation_p.V82I|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	312					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	p.V312>?(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AAAGCGAGTCGTCAAGGAGTT	0.562000													15	40					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171614993	171614993	+	Silent	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr5:171614993T>C	ENST00000176763.5	-	1	397	c.54A>G	c.(52-54)agA>agG	p.R18R		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	18							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCGGGACTTTCTCTTCTCGA	0.677000													8	26					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107824215	107824215	+	Silent	SNP	T	T	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chrX:107824215T>C	ENST00000328300.6	+	16	1138	c.894T>C	c.(892-894)ggT>ggC	p.G298G	COL4A5_ENST00000361603.2_Silent_p.G298G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	298	Triple-helical region.		G -> S (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTATAGGGTAAACCAGGCA	0.378000									Alport syndrome with Diffuse Leiomyomatosis				30	10					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30325880	30325880	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:30325880C>T	ENST00000322652.5	+	16	2307	c.2078C>T	c.(2077-2079)tCt>tTt	p.S693F	SUZ12_ENST00000580398.1_Missense_Mutation_p.S670F	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	693					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGGGGGAATCTGCTTCCCCT	0.363000			T	JAZF1	endometrial stromal tumours								8	14					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768575	88768575	+	RNA	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr10:88768575C>T	ENST00000444431.1	+	0	3175				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTAGCCACATCGGCCTGCGCA	0.478000													35	72					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97088047	97088047	+	Silent	SNP	G	G	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr9:97088047G>C	ENST00000335456.7	-	2	206	c.186C>G	c.(184-186)acC>acG	p.T62T	NUTM2F_ENST00000341207.4_Silent_p.T62T|NUTM2F_ENST00000253262.4_Silent_p.T62T					NUT family member 2F																		CCACTAGAGGGGTGCTGGGGA	0.682000													22	14					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2953006	2953006	+	Silent	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:2953006G>A	ENST00000396946.4	-	22	3337	c.2934C>T	c.(2932-2934)ctC>ctT	p.L978L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	978	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGGGTGTGAAGAGCACGGGCC	0.647000			Mis		DLBCL								18	84					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569369	11569369	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr19:11569369C>A	ENST00000359227.3	-	4	815	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	ELAVL3_ENST00000438662.2_Missense_Mutation_p.G131W	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	131	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGGAGCCCGCTGACGTAC	0.602000													23	56					1.10513e-12	1.21565e-12	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25181401	25181401	+	Silent	SNP	C	C	T	rs146969490	byFrequency	TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr8:25181401C>T	ENST00000276440.7	+	17	1697	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	551	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGGTGGCCTTCGTGAAGCTGA	0.512000													4	4					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107822277	107822277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:107822277G>A	ENST00000379028.3	-	24	3105	c.2635C>T	c.(2635-2637)Caa>Taa	p.Q879*	NRCAM_ENST00000425651.2_Nonsense_Mutation_p.Q879*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.Q863*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.Q879*|NRCAM_ENST00000413765.2_Nonsense_Mutation_p.Q860*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.Q860*			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	879	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGATAGCCTTGTAGGTGTCCT	0.527000													8	7					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123150002	123150002	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:123150002G>A	ENST00000466202.1	-	3	1061	c.485C>T	c.(484-486)tCa>tTa	p.S162L	IQUB_ENST00000324698.6_Missense_Mutation_p.S162L|IQUB_ENST00000434450.1_Missense_Mutation_p.S162L|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	162	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TAATAAGTGTGAAAAATGGTC	0.313000													24	92					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33591589	33591589	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:33591589C>T	ENST00000299977.4	+	4	1674	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	509					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTTTACAGTTCGTATTTACAA	0.473000													20	40					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2140903	2140903	+	Silent	SNP	G	G	C			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr16:2140903G>C	ENST00000262304.4	-	43	12193	c.11985C>G	c.(11983-11985)ctC>ctG	p.L3995L	PKD1_ENST00000423118.1_Silent_p.L3994L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3995					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGCAGGAAGAGCAGCGAGG	0.706000													8	24					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119721	3119721	+	Silent	SNP	C	C	T			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:3119721C>T	ENST00000304094.1	+	1	807	c.807C>T	c.(805-807)gaC>gaT	p.D269D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCTAAAAGACGCAGTGATCA	0.478000													13	46					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347218	71347218	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr4:71347218G>A	ENST00000413702.1	+	4	1045	c.757G>A	c.(757-759)Gct>Act	p.A253T	MUC7_ENST00000456088.1_Missense_Mutation_p.A253T|MUC7_ENST00000304887.5_Missense_Mutation_p.A253T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	253	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ATCTTCCTCAGCTCCACCAGA	0.592000													51	180					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041335	107041337	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr2:107041335_107041337delTCT	ENST00000409886.3	-	20	3173_3175	c.3086_3088delAGA	c.(3085-3090)aagact>act	p.K1029del	RGPD3_ENST00000304514.7_In_Frame_Del_p.K1029del	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1029					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGTCCTCAGTCTTATAGGCATC	0.379													13	67	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	152008976	152008979	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr7:152008976_152008979delCTGT	ENST00000355193.2	-	5	861_864	c.643_646delACAG	c.(643-648)acagctfs	p.TA215fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.TA215fs					lysine (K)-specific methyltransferase 2C																		TCATCTGAAGCTGTCTGGGTGCTT	0.392													20	54	---	---	---	---					
KIAA1432	57589	broad.mit.edu	37	9	5774103	5774104	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr9:5774103_5774104insGC	ENST00000414202.2	+	26	4320_4321	c.4129_4130insGC	c.(4129-4131)agcfs	p.S1377fs	KIAA1432_ENST00000418622.3_Frame_Shift_Ins_p.S1298fs|KIAA1432_ENST00000449720.2_Frame_Shift_Ins_p.S1261fs	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1377						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGCAGAGGAGAGCAGGGGCTCC	0.559													34	31	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579849	7579849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr17:7579849delG	ENST00000420246.2	-	2	196	c.64delC	c.(64-66)ctafs	p.L22fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.L22fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L22fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L22fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L22fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L22fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	22	Interaction with HRMT1L2.|Transcription activation (acidic).				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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P13fs*18(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)		AGTTTCCATAGGTCTGAAAAT	0.592		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)			11	15	---	---	---	---					
ZNF521	25925	broad.mit.edu	37	18	22805859	22805860	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HQ-A5ND-01A-11D-A26M-08	TCGA-HQ-A5ND-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eba0abbc-a672-4dad-a27c-c5e397fa2438	806fbef0-8f13-4abe-92cb-ba4cbf3e88c8	g.chr18:22805859_22805860insA	ENST00000361524.3	-	4	2170_2171	c.2022_2023insT	c.(2020-2025)cccaacfs	p.N675fs	ZNF521_ENST00000538137.2_Frame_Shift_Ins_p.N675fs|ZNF521_ENST00000584787.1_Frame_Shift_Ins_p.N455fs	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	675					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GATTCTTGGTTGGGGAATTCCT	0.421			T	PAX5	ALL								23	104	---	---	---	---					
