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
ZNF19	7567	broad.mit.edu	37	16	71509834	71509834	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:71509834G>A	ENST00000288177.5	-	6	871	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	ZNF19_ENST00000565100.2_Missense_Mutation_p.R136W|ZNF19_ENST00000565637.1_Missense_Mutation_p.R164W|ZNF19_ENST00000564230.1_Missense_Mutation_p.R206W|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	206						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		CTCTGGTGCCGAATTAACGAA	0.443000													46	41					0	0	0.870114	0	0
WDR1	9948	broad.mit.edu	37	4	10083023	10083023	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:10083023G>A	ENST00000382452.2	-	11	1524	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	WDR1_ENST00000382451.2_Silent_p.A274A|WDR1_ENST00000499869.2_Silent_p.A414A|WDR1_ENST00000502702.1_Silent_p.A274A|WDR1_ENST00000515743.1_5'UTR	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	414					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CGGGGCCGACGGCTACGCACT	0.572000													3	70					0	0	0.150653	0	0
GCOM1	145781	broad.mit.edu	37	15	57925871	57925871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:57925871G>T	ENST00000574161.1	+	8	984	c.865G>T	c.(865-867)Gag>Tag	p.E289*	MYZAP_ENST00000380565.4_Nonsense_Mutation_p.E289*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.E289*|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.E220*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.E258*|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.E289*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.E258*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.E289*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		289					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCAAGCAGCAGAGATCAGCCT	0.473000													5	139					0.000157383	0.000172676	0.278610	1	0
FASTKD5	60493	broad.mit.edu	37	20	3128841	3128841	+	Silent	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:3128841A>C	ENST00000380266.3	-	2	1197	c.876T>G	c.(874-876)cgT>cgG	p.R292R	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	292					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGGATACCTGACGATTTTCAC	0.343000													14	150					0	0	0.457914	0	0
CARD11	84433	broad.mit.edu	37	7	2956977	2956977	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:2956977G>A	ENST00000396946.4	-	20	3053	c.2650C>T	c.(2650-2652)Cgg>Tgg	p.R884W		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	884					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)		GGGCTGACCCGGGGGTCGCTT	0.547000			Mis		DLBCL								11	63					0	0	0.387290	0	0
SEC61B	10952	broad.mit.edu	37	9	101992659	101992659	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:101992659G>C	ENST00000498603.1	+	4	349	c.82G>C	c.(82-84)Gct>Cct	p.A28P	SEC61B_ENST00000223641.4_Missense_Mutation_p.A82P			P60468	SC61B_HUMAN	Sec61 beta subunit	82					ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport	endoplasmic reticulum Sec complex|integral to membrane	epidermal growth factor binding			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				TCTGTTCATCGCTTCTGTATT	0.373000													8	401					0	0	0.307466	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370583	26370583	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:26370583G>T	ENST00000356386.2	+	5	655	c.467G>T	c.(466-468)gGt>gTt	p.G156V	BTN3A2_ENST00000377708.2_Missense_Mutation_p.G156V|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G156V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G114V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G133V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G156V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	156						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAAGTGAAGGGTTATGAGGAT	0.517000													7	146					2.7689e-08	3.26248e-08	0.248553	1	0
TTN	7273	broad.mit.edu	37	2	179436612	179436612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:179436612C>T	ENST00000589042.1	-	326	74471	c.74247G>A	c.(74245-74247)tgG>tgA	p.W24749*	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W23108*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W15684*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W15876*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W15809*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W22181*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23108	Fibronectin type-III 80.						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)			TATCTTTATGCCAGGTTACAG	0.443000													4	155					0	0	0.150653	0	0
TARS	6897	broad.mit.edu	37	5	33455798	33455798	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:33455798G>A	ENST00000265112.3	+	6	993	c.682G>A	c.(682-684)Gca>Aca	p.A228T	TARS_ENST00000541634.1_Missense_Mutation_p.A124T|TARS_ENST00000502553.1_Missense_Mutation_p.A228T|TARS_ENST00000455217.2_Missense_Mutation_p.A261T|TARS_ENST00000414361.2_Missense_Mutation_p.A107T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	228					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.A228S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AACTTTACTGGCAATGTTTAA	0.373000													16	195					0	0	0.500413	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174543	11174543	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:11174543G>A	ENST00000390673.2	-	1	676	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	210					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R210W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTATGGAGCCGCATCTTCTTG	0.403000													7	250					0	0	0.248553	0	0
RRAGC	64121	broad.mit.edu	37	1	39322630	39322630	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:39322630A>C	ENST00000373001.3	-	2	538	c.362T>G	c.(361-363)aTg>aGg	p.M121R		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	121					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AAAAAAGTCCATTTGCCCAGG	0.398000													62	177					0	0	0.870114	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768487	77768487	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:77768487C>T	ENST00000521891.2	+	10	9778	c.9330C>T	c.(9328-9330)ccC>ccT	p.P3110P	ZFHX4_ENST00000518282.1_Silent_p.P3084P|ZFHX4_ENST00000050961.6_Silent_p.P3065P|ZFHX4_ENST00000455469.2_Silent_p.P3065P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3065	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P3094P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCTTCTCCCCGGAATGAACG	0.527000										HNSCC(33;0.089)			10	97					0	0	0.361761	0	0
SIL1	64374	broad.mit.edu	37	5	138356974	138356974	+	Missense_Mutation	SNP	T	T	C	rs150156151		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:138356974T>C	ENST00000394817.2	-	7	792	c.653A>G	c.(652-654)aAt>aGt	p.N218S	SIL1_ENST00000265195.5_Missense_Mutation_p.N218S|CTB-46B19.2_ENST00000512875.2_RNA|CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.N225S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	218	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCCTGCGCATTGTCCATCTG	0.502000									Marinesco-Sjgren syndrome				20	35					0	0	0.575678	0	0
FABP3	2170	broad.mit.edu	37	1	31840248	31840248	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:31840248G>A	ENST00000373713.2	-	3	401	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	114					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ACCAGGATGAGTTTTCCATCA	0.478000													101	265					0	0	0.870114	0	0
DENND4C	55667	broad.mit.edu	37	9	19300201	19300201	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:19300201A>T	ENST00000380432.2	+	5	508	c.475A>T	c.(475-477)Acc>Tcc	p.T159S	DENND4C_ENST00000434457.2_Missense_Mutation_p.T395S|DENND4C_ENST00000602925.1_Missense_Mutation_p.T395S|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	159	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CAACTTTAGCACCTTGCTAAT	0.368000													13	187					0	0	0.457914	0	0
C8orf59	401466	broad.mit.edu	37	8	86127184	86127184	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:86127184T>A	ENST00000417663.2	-	3	268	c.197A>T	c.(196-198)aAa>aTa	p.K66I	E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000458398.2_Missense_Mutation_p.K66I|C8orf59_ENST00000518091.1_Missense_Mutation_p.K66I|C8orf59_ENST00000421308.2_Missense_Mutation_p.K66I|C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000524353.1_Missense_Mutation_p.K66I	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	66																	TGAAATGCTTTTTGCGAAATG	0.294000													9	31					0	0	0.361761	0	0
ZNF417	147687	broad.mit.edu	37	19	58420413	58420413	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:58420413C>T	ENST00000312026.5	-	3	1397	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	ZNF417_ENST00000595559.1_Silent_p.K410K|ZNF417_ENST00000536263.1_Silent_p.K212K|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCCCACATTCCTTGCACTCAT	0.453000													6	177					0	0	0.248553	0	0
RNF213	57674	broad.mit.edu	37	17	78338338	78338338	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:78338338C>T	ENST00000582970.1	+	42	11999	c.11856C>T	c.(11854-11856)gtC>gtT	p.V3952V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.V2025V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.V4001V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGAGCACGTCTTCTTACTAG	0.577000													13	63					0	0	0.435327	0	0
RPRD2	23248	broad.mit.edu	37	1	150443141	150443141	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:150443141A>G	ENST00000401000.4	+	10	1704	c.1639A>G	c.(1639-1641)Ata>Gta	p.I547V	RPRD2_ENST00000369068.4_Missense_Mutation_p.I573V|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.I547V			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	573	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTCTCTACCATAAAGGGAAG	0.478000													4	65					0	0	0.150653	0	0
TSR1	55720	broad.mit.edu	37	17	2234293	2234293	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:2234293G>C	ENST00000301364.4	-	9	2686	c.1607C>G	c.(1606-1608)aCt>aGt	p.T536S		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	536					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCTTTTCCTAGTGTTAGTAAA	0.393000													14	130					0	0	0.435327	0	0
C7orf10	79783	broad.mit.edu	37	7	40498705	40498705	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:40498705G>T	ENST00000309930.5	+	11	939	c.915G>T	c.(913-915)ttG>ttT	p.L305F	C7orf10_ENST00000335693.4_Missense_Mutation_p.L305F|C7orf10_ENST00000401647.2_Missense_Mutation_p.L257F	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	305							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTTAGATCTTGGATTTGCCTG	0.348000													35	99					9.17885e-22	1.14104e-21	0.779181	1	0
TRPV5	56302	broad.mit.edu	37	7	142630518	142630518	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:142630518G>T	ENST00000265310.1	-	1	387	c.39C>A	c.(37-39)agC>agA	p.S13R	TRPV5_ENST00000442623.1_Missense_Mutation_p.S13R	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	13					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTGGAGTTGGCTCCCGGGCC	0.517000													10	160					3.86212e-05	4.32494e-05	0.361761	1	0
KCNV2	169522	broad.mit.edu	37	9	2719000	2719000	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:2719000G>A	ENST00000382082.3	+	1	1499	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	421						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CATCGCCATGGGCATCTTCAC	0.637000													11	75					0	0	0.361761	0	0
NCOA4	8031	broad.mit.edu	37	10	51584772	51584772	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:51584772C>G	ENST00000452682.1	+	9	1171	c.919C>G	c.(919-921)Caa>Gaa	p.Q307E	NCOA4_ENST00000414907.2_Missense_Mutation_p.Q125E|NCOA4_ENST00000438493.1_Missense_Mutation_p.Q307E|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.Q291E|NCOA4_ENST00000443446.1_Missense_Mutation_p.Q291E|NCOA4_ENST00000374087.4_Missense_Mutation_p.Q291E|NCOA4_ENST00000374082.1_Missense_Mutation_p.Q291E|NCOA4_ENST00000430396.2_Missense_Mutation_p.Q191E	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	291					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GGTTGGAGATCAAGAGCTTCC	0.438000			T	RET	papillary thyroid								4	162					0	0	0.150653	0	0
HGD	3081	broad.mit.edu	37	3	120365175	120365175	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:120365175G>A	ENST00000283871.5	-	9	1047	c.588C>T	c.(586-588)acC>acT	p.T196T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	196					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGTAGCCCCTGGTCTCCTCAA	0.463000													94	65					0	0	0.870114	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24470966	24470966	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:24470966C>T	ENST00000382137.3	-	1	228	c.160G>A	c.(160-162)Gat>Aat	p.D54N	C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.D54N|C1QTNF9B-AS1_ENST00000417034.1_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	54	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTACCTGCATCGCCTTTGTCA	0.552000													6	132					0	0	0.248553	0	0
OR2M4	26245	broad.mit.edu	37	1	248402903	248402903	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:248402903G>A	ENST00000306687.1	+	1	673	c.673G>A	c.(673-675)Gtc>Atc	p.V225I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			CCTTCGAGCCGTCATCCACAT	0.473000													7	70					0	0	0.248553	0	0
XIRP2	129446	broad.mit.edu	37	2	168106123	168106123	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:168106123C>A	ENST00000409195.1	+	9	8310	c.8221C>A	c.(8221-8223)Caa>Aaa	p.Q2741K	XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2741K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2519K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2566					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						GATTGATGTTCAAACCTTTAC	0.338000													11	130					1.58986e-06	1.83342e-06	0.361761	1	0
ZNF75D	7626	broad.mit.edu	37	X	134427679	134427679	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:134427679C>G	ENST00000370766.3	-	3	3097	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.E130Q	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	130	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCATCAGGCTCCCTCTGCAAG	0.453000													56	34					0	0	0.870114	0	0
VPS13B	157680	broad.mit.edu	37	8	100155309	100155309	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:100155309G>C	ENST00000395996.1	+	13	1870	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H	VPS13B_ENST00000357162.2_Missense_Mutation_p.D587H|VPS13B_ENST00000358544.2_Missense_Mutation_p.D587H|VPS13B_ENST00000355155.1_Missense_Mutation_p.D587H			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	587					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTCGTTTGGATAGCAGTGC	0.388000													10	266					0	0	0.361761	0	0
ASH1L	55870	broad.mit.edu	37	1	155450127	155450127	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:155450127C>T	ENST00000368346.3	-	3	3173	c.2534G>A	c.(2533-2535)aGg>aAg	p.R845K	ASH1L_ENST00000392403.3_Missense_Mutation_p.R845K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	845					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTAAAGTCCTTTTAGGTGG	0.393000													8	269					0	0	0.278610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651068	84651068	+	Silent	SNP	G	G	T	rs139222116		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:84651068G>T	ENST00000286744.5	+	21	2912	c.2688G>T	c.(2686-2688)ccG>ccT	p.P896P	ADAMTSL3_ENST00000567476.1_Silent_p.P896P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	896	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.P896P(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCAGGGTCCGCAGATCCTCA	0.403000													9	97					1.12685e-05	1.2724e-05	0.307466	1	0
NDUFA12	55967	broad.mit.edu	37	12	95365236	95365236	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:95365236G>A	ENST00000327772.2	-	4	507	c.418C>T	c.(418-420)Cct>Tct	p.P140S	NDUFA12_ENST00000550187.1_5'UTR|NDUFA12_ENST00000547157.1_Missense_Mutation_p.T43I|NDUFA12_ENST00000547986.1_3'UTR	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	140					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	GGTGTTGAAGGTGGGATCCAC	0.358000													15	148					0	0	0.557998	0	0
CACNA1S	779	broad.mit.edu	37	1	201013550	201013550	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:201013550G>T	ENST00000362061.3	-	39	4929	c.4703C>A	c.(4702-4704)cCc>cAc	p.P1568H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1549H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1568					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACAGATCTCGGGGGCTGCCTC	0.602000													5	117					8.12818e-05	8.99077e-05	0.248553	1	0
MALAT1	378938	broad.mit.edu	37	11	65271029	65271029	+	RNA	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:65271029A>G	ENST00000534336.1	+	0	5797					NR_002819.2																						TAAAATTTACATGTTGTGATG	0.289000													40	150					0	0	0.834066	0	0
BRF1	2972	broad.mit.edu	37	14	105686450	105686450	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:105686450C>T	ENST00000546474.1	-	12	16292	c.1333G>A	c.(1333-1335)Ggt>Agt	p.G445S	BRF1_ENST00000446501.2_Missense_Mutation_p.G207S|BRF1_ENST00000379937.2_Missense_Mutation_p.G418S|BRF1_ENST00000327359.3_Missense_Mutation_p.G330S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.G241S|BRF1_ENST00000440513.3_Missense_Mutation_p.G330S|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000379932.4_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	445					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCCAGCTCACCGTCTCCTGAA	0.627000													8	120					0	0	0.335167	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712774	70712774	+	RNA	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:70712774G>C	ENST00000530196.1	-	0	1744					NR_003951.1																						GTTTCCCTGAGAGTTGATTTC	0.383000													124	328					0	0	0.870114	0	0
ABCC9	10060	broad.mit.edu	37	12	22063175	22063175	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:22063175C>G	ENST00000261200.4	-	8	1235	c.1236G>C	c.(1234-1236)caG>caC	p.Q412H	ABCC9_ENST00000345162.2_Missense_Mutation_p.Q412H|ABCC9_ENST00000261201.4_Missense_Mutation_p.Q412H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	412	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTTGTTGATCTGCCCCAGAG	0.378000													7	176					0	0	0.248553	0	0
NCBP1	4686	broad.mit.edu	37	9	100433449	100433449	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:100433449G>A	ENST00000375147.3	+	23	2597	c.2341G>A	c.(2341-2343)Gtg>Atg	p.V781M		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	781					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TATCTTGGCCGTGTTCCAGCA	0.423000													24	120					0	0	0.667858	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250178	140250178	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:140250178G>A	ENST00000398640.2	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1												p.R497Q(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGTTGGGCGAC	0.672000													16	119					0	0	0.479597	0	0
SASH1	23328	broad.mit.edu	37	6	148865297	148865297	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:148865297C>T	ENST00000367467.3	+	18	3166	c.2691C>T	c.(2689-2691)agC>agT	p.S897S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	897							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGACCCAAAGCAAGAGATTTT	0.537000													9	271					0	0	0.361761	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298830	125298830	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:125298830G>T	ENST00000538699.1	-	2	1158	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q360K	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	360										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATGATGTGCTGGTAGAAGCTC	0.637000													12	83					3.07112e-06	3.5117e-06	0.387290	1	0
MYO16	23026	broad.mit.edu	37	13	109817248	109817248	+	Splice_Site	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:109817248G>C	ENST00000356711.2	+	33	5224		c.e33-1		MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000357550.2_Splice_Site	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI						cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTATTTTAGGTTTTGAAAC	0.284000													25	55					0	0	0.639603	0	0
DNAH3	55567	broad.mit.edu	37	16	21014470	21014470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:21014470G>A	ENST00000261383.3	-	42	6081	c.6082C>T	c.(6082-6084)Cag>Tag	p.Q2028*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2028					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGATATACTGTGTCCACGTT	0.388000													64	202					0	0	0.870114	0	0
POU2F1	5451	broad.mit.edu	37	1	167384851	167384851	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:167384851C>T	ENST00000367862.5	+	16	2307	c.2072C>T	c.(2071-2073)cCt>cTt	p.P691L	POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367866.2_Missense_Mutation_p.P702L|POU2F1_ENST00000541643.3_Missense_Mutation_p.P679L|POU2F1_ENST00000429375.2_Missense_Mutation_p.P639L|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	679					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTCCTGAACCCTCAGAACCTC	0.572000													16	205					0	0	0.539581	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990016	39990016	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:39990016C>T	ENST00000332312.3	-	4	2385	c.2193G>A	c.(2191-2193)ctG>ctA	p.L731L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	731						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCGTACGATTCAGCTGGTCCA	0.687000													26	34					0	0	0.654019	0	0
XIRP2	129446	broad.mit.edu	37	2	168100963	168100963	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:168100963T>G	ENST00000409195.1	+	9	3150	c.3061T>G	c.(3061-3063)Ttt>Gtt	p.F1021V	XIRP2_ENST00000295237.9_Missense_Mutation_p.F1021V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F799V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	846					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						TAGGTGGCTTTTTGAAACAAG	0.368000													6	93					0	0	0.217242	0	0
RERE	473	broad.mit.edu	37	1	8616534	8616534	+	Splice_Site	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:8616534C>G	ENST00000337907.3	-	7	1359	c.725_splice	c.e7+1	p.R242_splice	RERE_ENST00000400907.2_Splice_Site_p.R242_splice|RERE_ENST00000400908.2_Splice_Site_p.R242_splice	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	242	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGTACTTACCTAAGGGCAGC	0.443000													45	320					0	0	0.870114	0	0
EP300	2033	broad.mit.edu	37	22	41545804	41545804	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:41545804A>G	ENST00000263253.7	+	14	3638	c.2419A>G	c.(2419-2421)Ata>Gta	p.I807V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	807					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAACTCTCCTATAATGCCTCC	0.458000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				21	50					0	0	0.575678	0	0
EFCAB6	64800	broad.mit.edu	37	22	44064784	44064784	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:44064784T>A	ENST00000262726.7	-	16	2035	c.1782A>T	c.(1780-1782)aaA>aaT	p.K594N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K442N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTGTTCATCTTTTTGTAAAT	0.383000													5	143					0	0	0.184627	0	0
ZNF259	8882	broad.mit.edu	37	11	116653688	116653688	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:116653688G>A	ENST00000227322.3	-	11	1098	c.1039C>T	c.(1039-1041)Ctc>Ttc	p.L347F		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	347					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTGCCCCCGAGGACTGCCATT	0.478000													118	43					0	0	0.870114	0	0
TNPO1	3842	broad.mit.edu	37	5	72187641	72187641	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:72187641A>G	ENST00000337273.5	+	15	2132	c.1706A>G	c.(1705-1707)tAt>tGt	p.Y569C	TNPO1_ENST00000506351.2_Missense_Mutation_p.Y561C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y519C|TNPO1_ENST00000523768.1_Missense_Mutation_p.Y519C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	569					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAATAGGAATATATTCAGATG	0.328000													48	114					0	0	0.870114	0	0
OR8H1	219469	broad.mit.edu	37	11	56058044	56058044	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:56058044C>A	ENST00000313022.2	-	1	522	c.495G>T	c.(493-495)ctG>ctT	p.L165L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L165L(3)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CGCAGAAATGCAGTCTGCTCA	0.433000													4	141					0.150653	0.153485	0.150653	1	0
DFNB31	25861	broad.mit.edu	37	9	117187304	117187304	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:117187304C>A	ENST00000374059.3	-	1	1047	c.114G>T	c.(112-114)agG>agT	p.R38S	DFNB31_ENST00000362057.3_Splice_Site_p.G389_splice|DFNB31_ENST00000265134.6_Splice_Site_p.G6_splice			Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	389					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCCAAGAAACCTGTGGGGAA	0.517000													8	206					0.000157383	0.000172676	0.278610	1	0
PSD3	23362	broad.mit.edu	37	8	18430163	18430163	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:18430163C>T	ENST00000440756.2	-	14	2767	c.2665G>A	c.(2665-2667)Ggg>Agg	p.G889R	PSD3_ENST00000428502.2_Missense_Mutation_p.G216R|PSD3_ENST00000523619.1_Missense_Mutation_p.G822R|PSD3_ENST00000286485.8_Missense_Mutation_p.G353R|PSD3_ENST00000327040.8_Missense_Mutation_p.G887R			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	888	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTTATCCACCCTTGCATTTCC	0.428000													18	279					0	0	0.608945	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:21971209T>A	ENST00000579755.1	-	2	486		c.e2-2		CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	4					0	0	0.307466	0	0
ZNF493	284443	broad.mit.edu	37	19	21607117	21607117	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:21607117A>T	ENST00000392288.2	+	4	1765	c.1656A>T	c.(1654-1656)aaA>aaT	p.K552N	ZNF493_ENST00000355504.4_Missense_Mutation_p.K424N|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATGTGGCAAAGCTTTTAATC	0.363000													15	62					0	0	0.479597	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14787090	14787090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr18:14787090G>A	ENST00000358984.4	+	15	1905	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Nonsense_Mutation_p.W575*	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	575										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAATTCTTGGGATTCTGAGG	0.318000													3	47					0	0	0.150653	0	0
TMEM63C	57156	broad.mit.edu	37	14	77703058	77703058	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:77703058C>T	ENST00000298351.4	+	9	778	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	212						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGGGTTTGCACCCAGGAATAG	0.547000													6	145					0	0	0.248553	0	0
MAATS1	89876	broad.mit.edu	37	3	119458167	119458167	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:119458167G>A	ENST00000273390.5	+	12	1604	c.1527G>A	c.(1525-1527)caG>caA	p.Q509Q		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GAGTCGTTCAGAACATGGTGT	0.428000													26	215					0	0	0.667858	0	0
RIF1	55183	broad.mit.edu	37	2	152324992	152324992	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:152324992A>G	ENST00000243326.4	+	31	7235	c.6752A>G	c.(6751-6753)aAt>aGt	p.N2251S	RIF1_ENST00000430328.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000428287.2_Intron|RIF1_ENST00000444746.2_Missense_Mutation_p.N2251S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2251	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATCTAGCATAATACCACTTCA	0.348000													60	205					0	0	0.870114	0	0
NASP	4678	broad.mit.edu	37	1	46073529	46073529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:46073529G>T	ENST00000350030.3	+	6	1033	c.946G>T	c.(946-948)Gag>Tag	p.E316*	NASP_ENST00000402363.3_Nonsense_Mutation_p.E318*|NASP_ENST00000537798.1_Nonsense_Mutation_p.E252*|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	316	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CGAGCCAGAGGAGAAGGTAGT	0.527000													5	57					0.00116845	0.00125158	0.217242	1	0
OR5P3	120066	broad.mit.edu	37	11	7847182	7847182	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:7847182A>T	ENST00000328375.1	-	1	337	c.338T>A	c.(337-339)tTc>tAc	p.F113Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCAGCAGGAAGCACTCGGC	0.552000													10	184					0	0	0.361761	0	0
SYNRG	11276	broad.mit.edu	37	17	35913812	35913812	+	Silent	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:35913812T>A	ENST00000339208.6	-	14	2153	c.2013A>T	c.(2011-2013)ggA>ggT	p.G671G	SYNRG_ENST00000502449.2_Silent_p.G593G|SYNRG_ENST00000394378.2_Silent_p.G593G|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Silent_p.G593G|SYNRG_ENST00000591288.1_Silent_p.G510G|SYNRG_ENST00000585472.1_Silent_p.G592G|SYNRG_ENST00000346661.4_Silent_p.G671G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	671	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCTGAATTCTCCAAAATCAT	0.418000													66	36					0	0	0.870114	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412299	139412299	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:139412299C>T	ENST00000277541.6	-	8	1421	c.1346G>A	c.(1345-1347)tGc>tAc	p.C449Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	449	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGATCTCGCATCGGGGGCC	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			80	29					0	0	0.870114	0	0
SYNE1	23345	broad.mit.edu	37	6	152523002	152523002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:152523002G>A	ENST00000367255.5	-	127	23703	c.23102C>T	c.(23101-23103)cCg>cTg	p.P7701L	SYNE1_ENST00000448038.1_Missense_Mutation_p.P7630L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2225L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7313L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7630L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7701L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7701					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTGATCCGGGAGAGACTG	0.433000										HNSCC(10;0.0054)			12	99					0	0	0.387290	0	0
TMEM53	79639	broad.mit.edu	37	1	45120269	45120269	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:45120269G>T	ENST00000372237.3	-	3	959	c.796C>A	c.(796-798)Ctc>Atc	p.L266I	TMEM53_ENST00000372235.3_Missense_Mutation_p.L236I|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	266						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					TCGACACAGAGGCTTGTGTAG	0.587000													14	87					4.7546e-09	5.70132e-09	0.500413	1	0
LNX1	84708	broad.mit.edu	37	4	54424120	54424120	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:54424120G>A	ENST00000306888.2	-	1	264	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	LNX1_ENST00000263925.7_Intron|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	101						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCAGCAACAGAAGCGCCTTC	0.537000													17	43					0	0	0.539581	0	0
EXO1	9156	broad.mit.edu	37	1	242030178	242030178	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:242030178A>C	ENST00000366548.3	+	11	1681	c.1088A>C	c.(1087-1089)aAg>aCg	p.K363T	EXO1_ENST00000518483.1_Missense_Mutation_p.K363T|EXO1_ENST00000348581.5_Missense_Mutation_p.K363T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	363	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACATGTCAAAAGTCAGCTAAT	0.378000								Editing and processing nucleases					9	168					0	0	0.387290	0	0
VEZT	55591	broad.mit.edu	37	12	95645720	95645720	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:95645720C>T	ENST00000436874.1	+	2	146	c.41C>T	c.(40-42)tCt>tTt	p.S14F	VEZT_ENST00000261219.6_5'UTR|VEZT_ENST00000356859.4_Intron	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	14						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTCAGAATTCTCCACTTTAC	0.363000													9	97					0	0	0.335167	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298829	125298829	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:125298829T>A	ENST00000538699.1	-	2	1159	c.1079A>T	c.(1078-1080)cAg>cTg	p.Q360L	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q360L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	360										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GATGATGTGCTGGTAGAAGCT	0.637000													12	85					0	0	0.387290	0	0
RYR1	6261	broad.mit.edu	37	19	38960132	38960132	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:38960132C>T	ENST00000355481.4	+	27	3875	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	RYR1_ENST00000360985.3_Silent_p.P1248P|RYR1_ENST00000359596.3_Silent_p.P1248P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1248	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCCAGTGCCCCTTGAACACC	0.552000													5	150					0	0	0.184627	0	0
USP48	84196	broad.mit.edu	37	1	22016569	22016569	+	Silent	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:22016569A>G	ENST00000308271.9	-	24	3555	c.2907T>C	c.(2905-2907)gcT>gcC	p.A969A	USP48_ENST00000400301.1_Silent_p.A917A|USP48_ENST00000529637.1_Silent_p.A981A|USP48_ENST00000374732.3_Silent_p.A455A	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	969	Ubiquitin-like.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGTCAAAAGGAGCAACTGAAA	0.358000													26	65					0	0	0.654019	0	0
TMEM53	79639	broad.mit.edu	37	1	45120270	45120270	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:45120270G>T	ENST00000372237.3	-	3	958	c.795C>A	c.(793-795)agC>agA	p.S265R	TMEM53_ENST00000372235.3_Missense_Mutation_p.S235R|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	265						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CGACACAGAGGCTTGTGTAGT	0.582000													14	88					6.31663e-08	7.41041e-08	0.479597	1	0
LARS2	23395	broad.mit.edu	37	3	45500356	45500356	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:45500356T>G	ENST00000415258.1	+	7	869	c.728T>G	c.(727-729)aTt>aGt	p.I243S	LARS2_ENST00000414984.1_Missense_Mutation_p.I200S|LARS2_ENST00000265537.3_Missense_Mutation_p.I243S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	243					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CAATGGTTTATTAAGACAACC	0.498000													24	45					0	0	0.706142	0	0
KMT2D	8085	broad.mit.edu	37	12	49425941	49425941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:49425941G>A	ENST00000301067.7	-	39	12546	c.12547C>T	c.(12547-12549)Cag>Tag	p.Q4183*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G3912fs(2)|p.G4182fs(2)									GGCAGACCCTGCCCAGACTGG	0.592000													6	127					0	0	0.248553	0	0
GCC1	79571	broad.mit.edu	37	7	127222454	127222454	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:127222454C>T	ENST00000321407.2	-	2	2366	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	648						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTCATTGGCCGCTGCAAGT	0.582000													4	131					0	0	0.217242	0	0
ASIC5	51802	broad.mit.edu	37	4	156751052	156751052	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:156751052G>T	ENST00000537611.2	-	10	1520	c.1474C>A	c.(1474-1476)Cct>Act	p.P492T		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	492						integral to membrane|plasma membrane											TGATTCTGAGGTGGAGGAGTC	0.338000													5	62					0.00116845	0.00125158	0.217242	1	0
NAA20	51126	broad.mit.edu	37	20	20013236	20013236	+	Silent	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:20013236A>T	ENST00000398602.2	+	5	989	c.354A>T	c.(352-354)gtA>gtT	p.V118V	NAA20_ENST00000334982.4_Silent_p.V130V|NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	130	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GCTACAGTGTATATAGGACGG	0.438000													12	62					0	0	0.387290	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43824171	43824171	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:43824171C>T	ENST00000389420.3	-	23	3364	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R276H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1122H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1122	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCACTGGGGCGACTAGCTTC	0.368000													5	37					0	0	0.184627	0	0
FAM120C	54954	broad.mit.edu	37	X	54209176	54209176	+	Silent	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:54209176C>G	ENST00000375180.2	-	1	512	c.456G>C	c.(454-456)gcG>gcC	p.A152A	FAM120C_ENST00000477084.1_Silent_p.A152A|FAM120C_ENST00000328235.4_Silent_p.A152A|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	152										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTGGCACAGCGCTGACAAGT	0.697000													3	15					0	0	0.115264	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782853	80782853	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:80782853A>G	ENST00000466387.1	+	16	2300	c.1576A>G	c.(1576-1578)Ata>Gta	p.I526V	CTNNA2_ENST00000541047.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.I526V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I560V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I205V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	526					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						CAAGTGTGTGATAGCCCTCCA	0.468000													3	143					0	0	0.115264	0	0
SMARCC2	6601	broad.mit.edu	37	12	56566447	56566447	+	Silent	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:56566447T>C	ENST00000394023.3	-	19	1890	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.K595K|SMARCC2_ENST00000550164.1_Silent_p.K595K|SMARCC2_ENST00000267064.4_Silent_p.K564K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	564					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTCTTTGCCTTTGTCAGGAA	0.502000													61	148					0	0	0.870114	0	0
URB2	9816	broad.mit.edu	37	1	229772124	229772124	+	Silent	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:229772124G>C	ENST00000258243.2	+	4	1900	c.1764G>C	c.(1762-1764)ccG>ccC	p.P588P		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	588						nucleolus		p.P588P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCCTTCTCCCGGACACCCCAG	0.612000													5	243					0	0	0.248553	0	0
LRIF1	55791	broad.mit.edu	37	1	111494644	111494644	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:111494644G>T	ENST00000369763.4	-	2	1252	c.862C>A	c.(862-864)Cca>Aca	p.P288T	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATTTCACTGGAGCAGCTTGA	0.358000													72	114					3.19358e-47	4.0442e-47	0.870114	1	0
FAR2P1	440905	broad.mit.edu	37	2	130792744	130792744	+	RNA	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:130792744G>T	ENST00000325390.3	-	0	2584					NR_026758.1																						TACAGCTAGTGGGAGATTGAC	0.488000													8	68					5.68852e-11	6.9441e-11	0.307466	1	0
CYB561A3	220002	broad.mit.edu	37	11	61120500	61120500	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:61120500C>T	ENST00000426130.2	-	6	1335	c.556G>A	c.(556-558)Gca>Aca	p.A186T	CYB561A3_ENST00000294072.4_Missense_Mutation_p.A169T|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A169T|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A169T	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3									p.A169T(1)									ATGACGGATGCGATGGACAGA	0.522000													16	50					0	0	0.592651	0	0
GPR123	84435	broad.mit.edu	37	10	134942077	134942077	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:134942077G>A	ENST00000607359.1	+	16	2902	c.2902G>A	c.(2902-2904)Gag>Aag	p.E968K	GPR123_ENST00000392606.2_Missense_Mutation_p.E152K|GPR123_ENST00000392607.3_Missense_Mutation_p.E249K			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	249						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCTGCAGAACGAGCACTCATT	0.726000													5	3					0	0	0.217242	0	0
CYLC2	1539	broad.mit.edu	37	9	105767514	105767514	+	Missense_Mutation	SNP	G	G	C	rs146533245	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:105767514G>C	ENST00000374798.3	+	5	671	c.601G>C	c.(601-603)Gac>Cac	p.D201H	CYLC2_ENST00000487798.1_Missense_Mutation_p.D201H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	201	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAAAGGCAAAGACTCGGCAAC	0.378000													5	39					0	0	0.184627	0	0
WDR89	112840	broad.mit.edu	37	14	64066011	64066011	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:64066011G>A	ENST00000394942.2	-	2	738	c.650C>T	c.(649-651)tCa>tTa	p.S217L	WDR89_ENST00000267522.3_Missense_Mutation_p.S217L	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	217										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GCTTACTGATGAAATTGAGTT	0.373000													53	274					0	0	0.870114	0	0
FARP1	10160	broad.mit.edu	37	13	99042216	99042216	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:99042216G>A	ENST00000376586.2	+	10	1197	c.861G>A	c.(859-861)gcG>gcA	p.A287A	FARP1_ENST00000319562.6_Silent_p.A287A|FARP1_ENST00000595437.1_Silent_p.A287A			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	287	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTAGAGTGCGTACCAGGATA	0.418000													29	272					0	0	0.750413	0	0
GAS6	2621	broad.mit.edu	37	13	114535695	114535695	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:114535695C>T	ENST00000357389.3	-	9	1146	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	GAS6_ENST00000450766.1_Missense_Mutation_p.A16T|GAS6_ENST00000327773.6_Missense_Mutation_p.A289T|GAS6_ENST00000355761.4_Missense_Mutation_p.A235T|GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000418959.3_5'UTR|GAS6-AS1_ENST00000458001.1_RNA			Q14393	GAS6_HUMAN	growth arrest-specific 6	332					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ACACTCTTGGCCACGCTGAAG	0.667000													8	160					0	0	0.335167	0	0
SEPP1	6414	broad.mit.edu	37	5	42801329	42801329	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:42801329A>T	ENST00000514985.1	-	5	895	c.639T>A	c.(637-639)caT>caA	p.H213Q	SEPP1_ENST00000507920.1_Missense_Mutation_p.M103K|SEPP1_ENST00000511224.1_Missense_Mutation_p.H213Q|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.H213Q	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	213					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GCTGATGTCCATGATTGTGAT	0.463000													12	306					0	0	0.411799	0	0
TNRC6B	23112	broad.mit.edu	37	22	40660900	40660900	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:40660900G>A	ENST00000454349.2	+	5	877	c.666G>A	c.(664-666)tcG>tcA	p.S222S	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Silent_p.S222S|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	222					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ACAGTGCCTCGAACCCTGGCT	0.498000													55	105					0	0	0.870114	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136324143	136324143	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:136324143G>A	ENST00000371929.3	+	29	4569	c.4125G>A	c.(4123-4125)caG>caA	p.Q1375Q	ADAMTS13_ENST00000356589.2_Silent_p.Q1288Q|ADAMTS13_ENST00000355699.2_Silent_p.Q1319Q|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.Q171Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1375	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGGGCAGCAGGTGCTCTACT	0.602000													4	70					0	0	0.184627	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082800	73082800	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:73082800T>G	ENST00000373189.5	+	2	341	c.289T>G	c.(289-291)Tca>Gca	p.S97A		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	97					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCCTGAGGGCTCAGACATCCT	0.547000													3	111					0	0	0.150653	0	0
COL5A2	1290	broad.mit.edu	37	2	189917666	189917666	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:189917666G>T	ENST00000374866.3	-	39	2906	c.2632C>A	c.(2632-2634)Caa>Aaa	p.Q878K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	878					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCTAAACCTTGTGGTCCAGGA	0.463000													6	115					0.0215528	0.0222084	0.217242	1	0
SRRM2	23524	broad.mit.edu	37	16	2816271	2816271	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:2816271A>T	ENST00000301740.8	+	11	6291	c.5742A>T	c.(5740-5742)agA>agT	p.R1914S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1914	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGGTCAAGAGCATCCCCAG	0.587000													4	122					0	0	0.150653	0	0
SI	6476	broad.mit.edu	37	3	164772993	164772993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:164772993C>A	ENST00000264382.3	-	13	1563	c.1501G>T	c.(1501-1503)Gga>Tga	p.G501*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	501	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATCCAAAGTCCATCATATTGC	0.328000										HNSCC(35;0.089)			8	203					0.27861	0.280682	0.278610	1	0
PLOD2	5352	broad.mit.edu	37	3	145789100	145789100	+	Silent	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:145789100T>A	ENST00000282903.5	-	18	2136	c.1959A>T	c.(1957-1959)ccA>ccT	p.P653P	PLOD2_ENST00000461497.1_Silent_p.P313P|PLOD2_ENST00000360060.3_Silent_p.P632P|PLOD2_ENST00000494950.1_Silent_p.P598P|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	632	Fe2OG dioxygenase.				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAGTGTAACTGGTGCAATGA	0.403000													4	156					0	0	0.150653	0	0
NR4A3	8013	broad.mit.edu	37	9	102606941	102606941	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:102606941C>G	ENST00000330847.1	+	5	1342	c.1298C>G	c.(1297-1299)aCt>aGt	p.T433S	NR4A3_ENST00000395097.2_Missense_Mutation_p.T422S			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	422					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TACTGTCCCACTGACCAGGCT	0.498000			T	EWSR1	extraskeletal myxoid chondrosarcoma								18	77					0	0	0.520397	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790731	194790731	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:194790731C>A	ENST00000310380.6	-	4	1003	c.895G>T	c.(895-897)Gcc>Tcc	p.A299S	XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Missense_Mutation_p.A93S|XXYLT1_ENST00000429994.1_Missense_Mutation_p.A153S|XXYLT1_ENST00000355729.4_Missense_Mutation_p.A96S|XXYLT1_ENST00000437101.1_Missense_Mutation_p.A96S	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	299						integral to membrane	transferase activity, transferring glycosyl groups										TGGCGCATGGCCTCCAGGTTC	0.706000													10	119					2.17888e-05	2.45011e-05	0.335167	1	0
LITAF	9516	broad.mit.edu	37	16	11650451	11650451	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:11650451C>T	ENST00000571688.1	-	2	366	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	LITAF_ENST00000576036.1_Missense_Mutation_p.G46R|LITAF_ENST00000574763.1_Missense_Mutation_p.G46R|LITAF_ENST00000381810.3_Missense_Mutation_p.G46R|LITAF_ENST00000574703.1_Missense_Mutation_p.G46R|LITAF_ENST00000339430.5_Missense_Mutation_p.G46R|LITAF_ENST00000571976.1_Missense_Mutation_p.G46R|LITAF_ENST00000571459.1_Missense_Mutation_p.G46R|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000413364.2_Missense_Mutation_p.G46R|LITAF_ENST00000570904.1_Missense_Mutation_p.G46R	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	46					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						GTCACAAGCCCCGTAGTTGGC	0.567000													4	106					0	0	0.150653	0	0
ZEB2	9839	broad.mit.edu	37	2	145157513	145157513	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:145157513G>T	ENST00000558170.2	-	8	2425	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	ZEB2_ENST00000409487.3_Missense_Mutation_p.P414H|ZEB2_ENST00000303660.4_Missense_Mutation_p.P414H|ZEB2_ENST00000539609.3_Missense_Mutation_p.P390H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	414						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTCATAAAGGGACTAGTGCC	0.448000													6	140					0.00198382	0.00209189	0.248553	1	0
COPG2	26958	broad.mit.edu	37	7	130295823	130295823	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:130295823C>A	ENST00000445977.2	-	9	827	c.738G>T	c.(736-738)ggG>ggT	p.G246G				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	246					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					AAGACACTTACCCATCCTCAG	0.368000													6	123					1.76689e-08	2.09095e-08	0.335167	1	0
PAN3	255967	broad.mit.edu	37	13	28854571	28854571	+	Silent	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:28854571A>C	ENST00000399613.1	+	15	1675	c.1612A>C	c.(1612-1614)Agg>Cgg	p.R538R	PAN3_ENST00000380958.3_Silent_p.R738R|PAN3_ENST00000282391.5_Silent_p.R426R			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	738	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGACCAAAACAGGATGCGAAG	0.373000													94	85					0	0	0.870114	0	0
PRMT3	10196	broad.mit.edu	37	11	20419170	20419170	+	Missense_Mutation	SNP	C	C	T	rs142076035		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:20419170C>T	ENST00000331079.6	+	7	825	c.608C>T	c.(607-609)tCg>tTg	p.S203L	PRMT3_ENST00000437750.2_Missense_Mutation_p.S141L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	203							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AGAACCTGCTCGTCATCTACT	0.413000													87	114					0	0	0.870114	0	0
ARID5A	10865	broad.mit.edu	37	2	97218002	97218002	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:97218002C>A	ENST00000454558.2	+	7	2710	c.1533C>A	c.(1531-1533)gtC>gtA	p.V511V	ARID5A_ENST00000357485.3_Silent_p.V579V			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	579					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CACCACCAGTCACAACCTATG	0.617000													36	134					1.69901e-12	2.09287e-12	0.812448	1	0
HTR7	3363	broad.mit.edu	37	10	92509030	92509030	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:92509030G>A	ENST00000371721.3	-	2	1103	c.861C>T	c.(859-861)atC>atT	p.I287I	HTR7_ENST00000336152.3_Silent_p.I287I|HTR7_ENST00000371719.2_Silent_p.I287I|HTR7_ENST00000277874.6_Silent_p.I287I			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	287					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CATTCAGGGCGATGACGCTGT	0.488000													5	61					0	0	0.184627	0	0
CCND1	595	broad.mit.edu	37	11	69462871	69462871	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:69462871C>T	ENST00000227507.2	+	4	911	c.684C>T	c.(682-684)cgC>cgT	p.R228R	CCND1_ENST00000536559.1_3'UTR	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	228					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CCTACTACCGCCTCACACGCT	0.612000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			13	522					0	0	0.435327	0	0
TP53	7157	broad.mit.edu	37	17	7577017	7577017	+	Splice_Site	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:7577017A>C	ENST00000420246.2	-	8	1052		c.e8+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(6)|p.A307fs*34(1)|p.L308fs*31(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)		CTGCTTGCTTACCTCGCTTAG	0.557000		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)			119	66					0	0	0.870114	0	0
EGFL7	51162	broad.mit.edu	37	9	139563027	139563027	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:139563027C>T	ENST00000371699.1	+	4	1010	c.99C>T	c.(97-99)gtC>gtT	p.V33V	EGFL7_ENST00000308874.7_Silent_p.V33V|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Silent_p.V33V|EGFL7_ENST00000406555.3_Silent_p.V33V			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	33	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGTGTGCTGTCCGGGCTCACG	0.677000													13	170					0	0	0.435327	0	0
RBM19	9904	broad.mit.edu	37	12	114404022	114404022	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:114404022A>C	ENST00000545145.2	-	1	89	c.11T>G	c.(10-12)cTg>cGg	p.L4R	RBM19_ENST00000392561.3_Missense_Mutation_p.L4R|RBM19_ENST00000261741.5_Missense_Mutation_p.L4R	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	4	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTTCACGATCAGTCGCGACAT	0.582000											OREG0022146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	93					0	0	0.217242	0	0
GLDN	342035	broad.mit.edu	37	15	51696666	51696666	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:51696666C>T	ENST00000335449.6	+	10	1427	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	GLDN_ENST00000396399.2_Silent_p.F333F	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	457	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGAGGACATTCTCAGTGGTGC	0.473000													13	158					0	0	0.411799	0	0
YIPF7	285525	broad.mit.edu	37	4	44631497	44631497	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:44631497C>T	ENST00000332990.5	-	4	437	c.421G>A	c.(421-423)Gat>Aat	p.D141N		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	141						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATGCTGCCATCTACTGGCTTC	0.403000													3	9					0	0	0.115264	0	0
OR13F1	138805	broad.mit.edu	37	9	107267227	107267227	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:107267227C>A	ENST00000334726.2	+	1	773	c.684C>A	c.(682-684)atC>atA	p.I228I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCCTGAGAATCAGCTCAGTGG	0.473000													147	168					1.35182e-49	1.71992e-49	0.870114	1	0
ADRA1A	148	broad.mit.edu	37	8	26627907	26627907	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:26627907C>T	ENST00000380573.3	-	3	2183	c.1160G>A	c.(1159-1161)aGg>aAg	p.R387K	ADRA1A_ENST00000380582.3_Missense_Mutation_p.R387K|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R387K|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R387K			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	387				R -> G (in Ref. 9; AAK77197).	activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGGAGATCCTGTAGAAGGT	0.562000													14	274					0	0	0.520397	0	0
PSG3	5671	broad.mit.edu	37	19	43237075	43237075	+	Silent	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:43237075A>T	ENST00000327495.5	-	3	754	c.570T>A	c.(568-570)acT>acA	p.T190T	PSG3_ENST00000595140.1_Silent_p.T190T	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	190	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)				GCAAGCTGTGAGTCATAGGGA	0.502000													128	302					0	0	0.870114	0	0
CNPY4	245812	broad.mit.edu	37	7	99720114	99720114	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:99720114C>A	ENST00000262932.3	+	3	388	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	86						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAGACAAGGCTGGAAGAGGC	0.537000													6	262					0.0215528	0.0222084	0.217242	1	0
CPT1C	126129	broad.mit.edu	37	19	50210775	50210775	+	Splice_Site	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:50210775C>T	ENST00000392518.4	+	13	1716	c.1343_splice	c.e13-1	p.R448_splice	CPT1C_ENST00000323446.5_Splice_Site_p.R448_splice|CPT1C_ENST00000354199.5_Splice_Site_p.R448_splice|CPT1C_ENST00000598293.1_Splice_Site_p.R448_splice|CPT1C_ENST00000405931.2_Splice_Site_p.R437_splice	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	448					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCCCTGACAGCTGGTTTGACA	0.562000													4	56					0	0	0.184627	0	0
ABCG8	64241	broad.mit.edu	37	2	44073294	44073294	+	Splice_Site	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:44073294G>C	ENST00000272286.2	+	3	256	c.165_splice	c.e3-1	p.V56_splice		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	56	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCCCCACAGGTGGACCTGGC	0.552000													3	111					0	0	0.115264	0	0
BST1	683	broad.mit.edu	37	4	15709251	15709251	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:15709251C>G	ENST00000382346.3	+	4	527	c.478C>G	c.(478-480)Cga>Gga	p.R160G	BST1_ENST00000265016.4_Missense_Mutation_p.R145G			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	145					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GAGCTGGTGTCGACAGAAAAA	0.438000													54	115					0	0	0.870114	0	0
RBM19	9904	broad.mit.edu	37	12	114358415	114358415	+	Splice_Site	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:114358415C>A	ENST00000545145.2	-	19	2464		c.e19+1		RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					cTTCACTTTACCTGGAGCTGC	0.517000													23	422					0.00047179	0.000513474	0.654019	1	0
ARAP3	64411	broad.mit.edu	37	5	141041799	141041799	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:141041799G>A	ENST00000239440.4	-	20	2889	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Missense_Mutation_p.R604W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	942	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCCCTTTCCGGTATACACCT	0.657000													38	88					0	0	0.827153	0	0
SNHG14	104472715	broad.mit.edu	37	15	25490683	25490683	+	RNA	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:25490683C>G	ENST00000453082.2	+	0	2719				SNORD115-41_ENST00000363608.1_RNA	NR_003343.1																						AAAAATCATGCTCAATAGGAT	0.498000													71	368					0	0	0.870114	0	0
RNF14	9604	broad.mit.edu	37	5	141358230	141358230	+	Silent	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:141358230T>C	ENST00000394520.2	+	5	978	c.669T>C	c.(667-669)tgT>tgC	p.C223C	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Silent_p.C97C|RNF14_ENST00000356143.1_Silent_p.C223C|RNF14_ENST00000347642.3_Silent_p.C223C|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Silent_p.C223C|RNF14_ENST00000540015.1_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	223					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCAGTATCTGTTTCTGTGAGA	0.413000													50	93					0	0	0.870114	0	0
HAPLN2	60484	broad.mit.edu	37	1	156594410	156594410	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:156594410G>C	ENST00000255039.1	+	6	981	c.574G>C	c.(574-576)Gac>Cac	p.D192H	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	192	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGAGGGTCTGGACTGGTGTAA	0.726000													4	34					0	0	0.248553	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327784	88327784	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:88327784C>A	ENST00000325089.6	+	2	360	c.141C>A	c.(139-141)atC>atA	p.I47I	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	47						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGGGGAAATCTGTGACAATG	0.458000													98	124					2.5264e-35	3.18444e-35	0.870114	1	0
FLT3	2322	broad.mit.edu	37	13	28599056	28599056	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:28599056C>T	ENST00000380982.4	-	18	2313	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FLT3_ENST00000241453.7_Silent_p.Q744Q|FLT3_ENST00000537084.1_Silent_p.Q744Q			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	744	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGGTGTATCTGAACTTCTC	0.308000			"""Mis, O"""		"""AML, ALL"""								143	112					0	0	0.870114	0	0
GK2	2712	broad.mit.edu	37	4	80328069	80328069	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:80328069G>T	ENST00000358842.3	-	1	1303	c.1286C>A	c.(1285-1287)aCc>aAc	p.T429N		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	429					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTTGTTGTTGGTCATTCCTCC	0.428000													45	103					1.76056e-25	2.19867e-25	0.859065	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:170198095G>A	ENST00000231706.4	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659						integral to membrane	amino acid transmembrane transporter activity	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498000													5	276					0	0	0.217242	0	0
LRCH1	23143	broad.mit.edu	37	13	47315978	47315978	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:47315978G>A	ENST00000389798.3	+	19	2379	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T	LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	728										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTCTGTCCGCATAATGTCT	0.502000													7	438					0	0	0.248553	0	0
CEP170	9859	broad.mit.edu	37	1	243354341	243354341	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:243354341C>A	ENST00000366542.1	-	8	1138	c.1087G>T	c.(1087-1089)Gtg>Ttg	p.V363L	CEP170_ENST00000366543.1_Missense_Mutation_p.V363L|CEP170_ENST00000366544.1_Missense_Mutation_p.V363L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	363						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCAAGTACACTGGAACATCA	0.363000													3	23					0.00909568	0.00944417	0.150653	1	0
TERF2	7014	broad.mit.edu	37	16	69419369	69419369	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:69419369C>T	ENST00000254942.3	-	2	416	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	TERF2_ENST00000603068.1_Missense_Mutation_p.G92R|TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Missense_Mutation_p.G134R	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	92	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TGCTCCTTCCCCAAGGGCCTG	0.587000													8	216					0	0	0.307466	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38340838	38340838	+	Silent	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:38340838A>G	ENST00000436615.3	+	4	613	c.123A>G	c.(121-123)ctA>ctG	p.L41L	RAPGEFL1_ENST00000544503.1_Silent_p.L90L|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Silent_p.L41L|RAPGEFL1_ENST00000456989.2_Silent_p.L96L	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	247	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TCCAGGATCTATACCTGCTAA	0.552000													3	15					0	0	0.115264	0	0
GCM2	9247	broad.mit.edu	37	6	10874289	10874289	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:10874289G>A	ENST00000379491.4	-	5	1607	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	487					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACTGACTGCGGAGCCCAGCCC	0.522000													10	128					0	0	0.411799	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259261	147259261	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:147259261A>T	ENST00000361727.3	+	12	2325	c.1809A>T	c.(1807-1809)aaA>aaT	p.K603N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	603	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGCCTACAAACACCTAGGAC	0.448000										HNSCC(39;0.1)			18	113					0	0	0.520397	0	0
CABIN1	23523	broad.mit.edu	37	22	24447311	24447311	+	Silent	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:24447311G>T	ENST00000398319.2	+	8	1066	c.681G>T	c.(679-681)tcG>tcT	p.S227S	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Silent_p.S227S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	227					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACGATGTTTCGGTGAGTGCAG	0.463000													3	106					0.115264	0.117874	0.115264	1	0
OR6F1	343169	broad.mit.edu	37	1	247875881	247875881	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:247875881C>A	ENST00000302084.2	-	1	224	c.177G>T	c.(175-177)atG>atT	p.M59I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAAAGAAGTACATGGGGGTAT	0.478000													8	128					1.12685e-05	1.2724e-05	0.307466	1	0
CHD7	55636	broad.mit.edu	37	8	61778180	61778180	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:61778180C>T	ENST00000423902.2	+	38	9161	c.8682C>T	c.(8680-8682)ctC>ctT	p.L2894L	CHD7_ENST00000524602.1_Silent_p.L845L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2894					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCCTTTCCTCCTGTCCACAA	0.587000													26	113					0	0	0.706142	0	0
DNAH10	196385	broad.mit.edu	37	12	124297944	124297944	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:124297944G>A	ENST00000409039.3	+	19	3049	c.3024G>A	c.(3022-3024)atG>atA	p.M1008I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1008	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTATTGTGATGGAGAAATTTG	0.403000													10	197					0	0	0.361761	0	0
PKD1L1	168507	broad.mit.edu	37	7	47933651	47933651	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:47933651C>A	ENST00000289672.2	-	15	2327	c.2277G>T	c.(2275-2277)caG>caT	p.Q759H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	759	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTTCAATCTGAACCTGCA	0.547000													23	183					2.89027e-11	3.54417e-11	0.624587	1	0
KMT2D	8085	broad.mit.edu	37	12	49425942	49425942	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:49425942C>A	ENST00000301067.7	-	39	12545	c.12546G>T	c.(12544-12546)ggG>ggT	p.G4182G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G3912fs(2)|p.G4182fs(2)									GCAGACCCTGCCCAGACTGGA	0.592000													6	127					0.248553	0.251335	0.248553	1	0
LUC7L3	51747	broad.mit.edu	37	17	48823139	48823139	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:48823139A>T	ENST00000505658.1	+	8	941	c.752A>T	c.(751-753)aAg>aTg	p.K251M	LUC7L3_ENST00000544170.1_Missense_Mutation_p.K175M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.K251M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.K251M			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	251	Arg/Ser-rich.|Glu-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAAAGGAGaagcaagaaaga	0.373000													5	13					0	0	0.184627	0	0
PCLO	27445	broad.mit.edu	37	7	82584021	82584021	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:82584021G>T	ENST00000423517.2	-	5	6585	c.6248C>A	c.(6247-6249)aCc>aAc	p.T2083N	PCLO_ENST00000333891.8_Missense_Mutation_p.T2083N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2014					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						GGGGGCCTGGGTTGGGCTAGA	0.463000													6	117					0.00116845	0.00125158	0.217242	1	0
NPC1L1	29881	broad.mit.edu	37	7	44579253	44579253	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:44579253C>A	ENST00000289547.4	-	2	798	c.743G>T	c.(742-744)gGt>gTt	p.G248V	NPC1L1_ENST00000423141.1_Missense_Mutation_p.G248V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G248V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G248V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	248					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)	CACGTCGTCACCTTGGGACTC	0.627000													7	194					0.248553	0.251335	0.248553	1	0
MYO9A	4649	broad.mit.edu	37	15	72180388	72180388	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:72180388T>C	ENST00000356056.5	-	27	5684	c.5212A>G	c.(5212-5214)Acc>Gcc	p.T1738A	MYO9A_ENST00000564571.1_Missense_Mutation_p.T1738A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T1809A|MYO9A_ENST00000444904.1_Missense_Mutation_p.T1719A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1738	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCCAACTTGGTAATCTCTCCT	0.333000													3	160					0	0	0.150653	0	0
TGFBR3	7049	broad.mit.edu	37	1	92177866	92177866	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:92177866C>A	ENST00000212355.4	-	13	2565	c.2100G>T	c.(2098-2100)ctG>ctT	p.L700L	TGFBR3_ENST00000370399.2_Silent_p.L699L|TGFBR3_ENST00000525962.1_Silent_p.L700L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	700	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTAGAAAGAGCAGTGAGGTGT	0.478000													21	49					1.22574e-08	1.46333e-08	0.624587	1	0
MUC17	140453	broad.mit.edu	37	7	100677264	100677264	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:100677264C>A	ENST00000306151.4	+	3	2631	c.2567C>A	c.(2566-2568)cCa>cAa	p.P856Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	856	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCATGCCAACCTCAACT	0.483000													8	639					1.12685e-05	1.2724e-05	0.307466	1	0
ZBTB3	79842	broad.mit.edu	37	11	62520234	62520234	+	Silent	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:62520234C>G	ENST00000394807.3	-	2	1178	c.1053G>C	c.(1051-1053)ctG>ctC	p.L351L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TCACCTGGACCAGCTCAGCTT	0.567000													5	138					0	0	0.184627	0	0
RTP2	344892	broad.mit.edu	37	3	187416695	187416695	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:187416695C>T	ENST00000358241.1	-	2	697	c.269G>A	c.(268-270)cGc>cAc	p.R90H		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	90					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CTTGAAGACGCGCATGCGCAC	0.647000													21	43					0	0	0.592651	0	0
EGF	1950	broad.mit.edu	37	4	110890205	110890205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:110890205G>T	ENST00000265171.5	+	11	2099	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	EGF_ENST00000509793.1_Nonsense_Mutation_p.E510*|EGF_ENST00000503392.1_Nonsense_Mutation_p.E552*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	552					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GCTTATTGAGGAAGGAGTAGA	0.453000													7	105					0.00198382	0.00209189	0.248553	1	0
UGT2B4	7363	broad.mit.edu	37	4	70360946	70360946	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:70360946T>C	ENST00000305107.6	-	1	680	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	UGT2B4_ENST00000512583.1_Missense_Mutation_p.K212E|UGT2B4_ENST00000381096.3_Missense_Mutation_p.K76E|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	212					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATCATATTTTTTACCCTCTCT	0.363000													19	52					0	0	0.592651	0	0
CALML5	51806	broad.mit.edu	37	10	5541247	5541247	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:5541247A>T	ENST00000380332.3	-	1	286	c.155T>A	c.(154-156)cTc>cAc	p.L52H		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	52	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CTCGGAGATGAGTTTCCTTAG	0.647000													4	126					0	0	0.150653	0	0
GPR61	83873	broad.mit.edu	37	1	110086823	110086823	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:110086823G>A	ENST00000527748.1	+	2	1862	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	393						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTCCTTCTGAGTCCTGGGTTT	0.602000													22	49					0	0	0.624587	0	0
CENPT	80152	broad.mit.edu	37	16	67865119	67865119	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:67865119T>A	ENST00000445712.2	-	6	640	c.394A>T	c.(394-396)Agt>Tgt	p.S132C	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000562787.1_Splice_Site_p.N235_splice|CENPT_ENST00000219172.3_Splice_Site_p.N235_splice|CENPT_ENST00000440851.2_Splice_Site_p.N235_splice|CENPT_ENST00000564817.1_Splice_Site_p.N235_splice			Q96BT3	CENPT_HUMAN	centromere protein T	235					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CCAACCTTACTTGGAGGAGCC	0.612000													6	283					0	0	0.217242	0	0
FMO4	2329	broad.mit.edu	37	1	171303578	171303578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:171303578G>T	ENST00000367749.3	+	8	1186	c.856G>T	c.(856-858)Gag>Tag	p.E286*		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	286					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTGAATGATGAGCTGCCAAA	0.373000													16	68					4.7546e-09	5.70132e-09	0.500413	1	0
C10orf137	26098	broad.mit.edu	37	10	127436201	127436201	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:127436201T>G	ENST00000337623.3	+	19	2914	c.2809T>G	c.(2809-2811)Tac>Gac	p.Y937D	RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.Y971D	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	971					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCCACTACTTACTTTACTAT	0.403000													60	102					0	0	0.870114	0	0
RCBTB2	1102	broad.mit.edu	37	13	49086282	49086282	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:49086282C>A	ENST00000344532.3	-	8	968	c.545G>T	c.(544-546)gGg>gTg	p.G182V	RCBTB2_ENST00000544904.1_Missense_Mutation_p.G158V|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G187V|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	182							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCCTACCTGCCCAGAGTTATT	0.408000													11	232					1.58986e-06	1.83342e-06	0.361761	1	0
CLPTM1L	81037	broad.mit.edu	37	5	1321749	1321749	+	Splice_Site	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:1321749C>A	ENST00000320895.5	-	15	1674		c.e15+1		CLPTM1L_ENST00000506641.1_Splice_Site|CLPTM1L_ENST00000320927.6_Splice_Site|CLPTM1L_ENST00000507807.1_Splice_Site	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like						apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GTCACACTCACCTTGTAGGTG	0.592000													5	129					5.9392e-07	6.9376e-07	0.217242	1	0
UMODL1	89766	broad.mit.edu	37	21	43529775	43529775	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr21:43529775C>T	ENST00000400427.1	+	10	1803	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	UMODL1_ENST00000400424.1_Silent_p.D469D|UMODL1_ENST00000408989.2_Silent_p.D541D|UMODL1_ENST00000408910.2_Silent_p.D541D	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	541	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACCAGGGACGCCACCCCCT	0.687000													4	47					0	0	0.217242	0	0
PPP2CB	5516	broad.mit.edu	37	8	30657106	30657106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:30657106C>A	ENST00000221138.4	-	2	718	c.268G>T	c.(268-270)Gga>Tga	p.G90*	PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	90					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GAATAATATCCTCTGTCTACA	0.343000													11	253					6.42651e-13	7.95244e-13	0.387290	1	0
EGFR	1956	broad.mit.edu	37	7	55231431	55231431	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:55231431C>A	ENST00000275493.2	+	14	1814	c.1637C>A	c.(1636-1638)cCa>cAa	p.P546Q	EGFR_ENST00000442591.1_Missense_Mutation_p.P546Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P546Q|EGFR_ENST00000454757.2_Missense_Mutation_p.P493Q|EGFR_ENST00000344576.2_Missense_Mutation_p.P546Q|EGFR_ENST00000455089.1_Missense_Mutation_p.P501Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	546					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTCAGTGAGCCAAGGGAGTTT	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			13	310					4.36969e-10	5.31025e-10	0.435327	1	0
FAT3	120114	broad.mit.edu	37	11	92088408	92088408	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:92088408C>A	ENST00000298047.6	+	1	3147	c.3130C>A	c.(3130-3132)Cca>Aca	p.P1044T	FAT3_ENST00000409404.2_Missense_Mutation_p.P1044T|FAT3_ENST00000541502.1_Missense_Mutation_p.P1044T|FAT3_ENST00000525166.1_Missense_Mutation_p.P894T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1044	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCCTATTTCCCAGACTTTGC	0.507000										TCGA Ovarian(4;0.039)			4	59					0.00909568	0.00944417	0.150653	1	0
CLDN17	26285	broad.mit.edu	37	21	31538876	31538876	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr21:31538876C>T	ENST00000286808.3	-	1	95	c.60G>A	c.(58-60)ggG>ggA	p.G20G		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	20					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGGCAAGAGTCCCCACCATGC	0.478000													36	91					0	0	0.812448	0	0
LMOD1	25802	broad.mit.edu	37	1	201868533	201868533	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:201868533G>A	ENST00000367288.4	-	2	1854	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	536					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGGAGGGGGTGGTGGGG	0.577000													3	38					0	0	0.115264	0	0
ZNF648	127665	broad.mit.edu	37	1	182026716	182026716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:182026716G>A	ENST00000339948.3	-	2	637	c.430C>T	c.(430-432)Cga>Tga	p.R144*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R144*(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCAGGTAGTCGGTCCCCAAGA	0.577000													68	45					0	0	0.870114	0	0
WDR91	29062	broad.mit.edu	37	7	134889075	134889075	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:134889075G>A	ENST00000354475.4	-	6	867	c.836C>T	c.(835-837)gCt>gTt	p.A279V	WDR91_ENST00000344400.5_Missense_Mutation_p.A279V|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Missense_Mutation_p.A244V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	279										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGGGCCCTGAGCAGGCGACAA	0.592000													7	92					0	0	0.248553	0	0
LOXL2	4017	broad.mit.edu	37	8	23191125	23191125	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:23191125G>A	ENST00000389131.3	-	5	1124	c.755C>T	c.(754-756)tCa>tTa	p.S252L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	252	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTTCCTCCGTGAGGCAAACAT	0.617000													6	61					0	0	0.217242	0	0
FZD1	8321	broad.mit.edu	37	7	90894572	90894572	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:90894572A>T	ENST00000287934.2	+	1	790	c.377A>T	c.(376-378)gAc>gTc	p.D126V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	126	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTGCACGGACATCGCGTAC	0.632000													17	84					0	0	0.557998	0	0
ESRRG	2104	broad.mit.edu	37	1	216850602	216850602	+	Silent	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:216850602A>T	ENST00000391890.3	-	4	736	c.219T>A	c.(217-219)ccT>ccA	p.P73P	ESRRG_ENST00000361395.2_Silent_p.P73P|ESRRG_ENST00000359162.2_Silent_p.P73P|ESRRG_ENST00000493603.1_Silent_p.P73P|ESRRG_ENST00000487276.1_Silent_p.P73P|ESRRG_ENST00000463665.1_Silent_p.P73P|ESRRG_ENST00000366938.2_Silent_p.P73P|ESRRG_ENST00000408911.3_Silent_p.P96P|ESRRG_ENST00000493748.1_Silent_p.P73P|ESRRG_ENST00000366940.2_Silent_p.P73P|ESRRG_ENST00000361525.3_Silent_p.P73P|ESRRG_ENST00000360012.3_Silent_p.P73P|ESRRG_ENST00000366937.1_Silent_p.P101P	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	96					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GTTTCCTGACAGGCCCACTAC	0.517000													18	221					0	0	0.557998	0	0
RNF213	57674	broad.mit.edu	37	17	78338337	78338337	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:78338337T>A	ENST00000582970.1	+	42	11998	c.11855T>A	c.(11854-11856)gTc>gAc	p.V3952D	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2025D|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V4001D	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCGAGCACGTCTTCTTACTA	0.577000													13	62					0	0	0.435327	0	0
COPG2	26958	broad.mit.edu	37	7	130295824	130295824	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:130295824C>A	ENST00000445977.2	-	9	826	c.737G>T	c.(736-738)gGg>gTg	p.G246V				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	246					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					AGACACTTACCCATCCTCAGT	0.368000													6	124					1.76689e-08	2.09095e-08	0.335167	1	0
LPCAT1	79888	broad.mit.edu	37	5	1488528	1488528	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:1488528G>A	ENST00000283415.3	-	5	777	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	215					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TAATTAGGCAGGTCCTGTTTG	0.303000													7	201					0	0	0.278610	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325305	150325305	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:150325305G>T	ENST00000493969.1	-	3	334	c.157C>A	c.(157-159)Cct>Act	p.P53T	GIMAP6_ENST00000328902.5_Silent_p.L127L	NM_001244071.1	NP_001231000.1	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	0							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTCACCAGGAGCACGGCGT	0.627000													7	153					0.00198382	0.00209189	0.248553	1	0
SERPINB4	6318	broad.mit.edu	37	18	61305189	61305189	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr18:61305189C>G	ENST00000341074.5	-	8	1052	c.937G>C	c.(937-939)Gac>Cac	p.D313H	SERPINB4_ENST00000356424.6_Missense_Mutation_p.D261H	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CCTGAGAGGTCTGCATCCCCA	0.502000													4	73					0	0	0.150653	0	0
NUP160	23279	broad.mit.edu	37	11	47857319	47857319	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:47857319G>A	ENST00000378460.2	-	7	1031	c.985C>T	c.(985-987)Cct>Tct	p.P329S	NUP160_ENST00000528071.1_Missense_Mutation_p.P215S|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.P215S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	329					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTCTTCACAGGGACATACTCC	0.453000													18	178					0	0	0.539581	0	0
TTC19	54902	broad.mit.edu	37	17	15929998	15929998	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:15929998G>A	ENST00000261647.5	+	9	1445	c.976G>A	c.(976-978)Gca>Aca	p.A326T	TTC19_ENST00000486880.2_Missense_Mutation_p.A447T|TTC19_ENST00000497842.2_3'UTR	NM_017775.3	NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	326					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAATCTAGCTGCAGTTTTGAT	0.428000													16	108					0	0	0.500413	0	0
SI	6476	broad.mit.edu	37	3	164772994	164772994	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:164772994A>T	ENST00000264382.3	-	13	1562	c.1500T>A	c.(1498-1500)gaT>gaA	p.D500E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	500	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCAAAGTCCATCATATTGCA	0.328000										HNSCC(35;0.089)			8	207					0	0	0.278610	0	0
LOC645166	645166	broad.mit.edu	37	1	148933357	148933357	+	RNA	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:148933357T>C	ENST00000539543.1	+	0	243					NR_027355.1																						CAAGACCTCATCAACAATTAA	0.453000													7	34					0	0	0.307466	0	0
LBP	3929	broad.mit.edu	37	20	37002604	37002604	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:37002604C>A	ENST00000217407.2	+	14	1509	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	450					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGGCTTCCCCCTTCCTCTGCT	0.483000													6	181					8.12818e-05	8.99077e-05	0.248553	1	0
EGFR	1956	broad.mit.edu	37	7	55238145	55238145	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:55238145C>T	ENST00000344576.2	+	16	2271	c.2026C>T	c.(2026-2028)Ccg>Tcg	p.P676S	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000455089.1_Intron	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	epidermal growth factor receptor	0					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTCTCTTCTGCCGTCAGAGTT	0.562000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			65	176					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:179579856C>T	ENST00000589042.1	-	90	26281	c.26057G>A	c.(26056-26058)gGc>gAc	p.G8686D	TTN_ENST00000591111.1_Missense_Mutation_p.G8369D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8369	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7442D(1)		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)			GTACTTCTTGCCGCTCCTAAG	0.443000													7	432					0	0	0.278610	0	0
GPR15	2838	broad.mit.edu	37	3	98251043	98251043	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:98251043G>A	ENST00000284311.3	+	1	301	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	56						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TGTTCTCATGGGAGCGTTGCA	0.498000													9	111					0	0	0.307466	0	0
OXER1	165140	broad.mit.edu	37	2	42991086	42991086	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:42991086G>A	ENST00000378661.2	-	1	315	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	78	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GCCCTCCAGAGGACCCCCCCA	0.627000													7	53					0	0	0.248553	0	0
MICU1	10367	broad.mit.edu	37	10	74234940	74234940	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:74234940C>T	ENST00000398761.4	-	10	989	c.857G>A	c.(856-858)gGa>gAa	p.G286E	MICU1_ENST00000401998.3_Missense_Mutation_p.G284E|MICU1_ENST00000418483.2_Missense_Mutation_p.G86E|MICU1_ENST00000361114.5_Missense_Mutation_p.G284E|MICU1_ENST00000398763.4_Missense_Mutation_p.G86E			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	284					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										CAGATCAGCTCCAAAAAAGTA	0.478000													11	18					0	0	0.387290	0	0
GABRG3	2567	broad.mit.edu	37	15	27772605	27772605	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:27772605A>G	ENST00000333743.6	+	8	1146	c.892A>G	c.(892-894)Acc>Gcc	p.T298A	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	298					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GACCATGACCACCCTGAGCAC	0.582000													11	86					0	0	0.411799	0	0
ABCD2	225	broad.mit.edu	37	12	39947881	39947881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:39947881C>A	ENST00000308666.3	-	10	2191	c.2056G>T	c.(2056-2058)Gaa>Taa	p.E686*		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	686	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCCAATTGTTCAAAGCGCCAA	0.348000													7	119					1.26484e-09	1.53024e-09	0.278610	1	0
MYH13	8735	broad.mit.edu	37	17	10233707	10233707	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:10233707C>T	ENST00000418404.3	-	20	2595	c.2432G>A	c.(2431-2433)aGg>aAg	p.R811K	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R811K|MYH13_ENST00000570743.1_Missense_Mutation_p.R811K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	811	IQ.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGTCACCTCCTCTCCATCAT	0.537000													3	31					0	0	0.150653	0	0
SFRP4	6424	broad.mit.edu	37	7	37955852	37955852	+	Silent	SNP	C	C	T	rs143563677		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:37955852C>T	ENST00000436072.2	-	1	665	c.288G>A	c.(286-288)ccG>ccA	p.P96P	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	96	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCGACTTGCACGGCTTGATAG	0.632000													10	90					0	0	0.411799	0	0
FBXL2	25827	broad.mit.edu	37	3	33427049	33427049	+	Silent	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:33427049A>G	ENST00000484457.1	+	15	1312	c.1221A>G	c.(1219-1221)acA>acG	p.T407T	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_Silent_p.T117T|FBXL2_ENST00000538892.1_Silent_p.T339T|FBXL2_ENST00000538181.1_Silent_p.T323T|FBXL2_ENST00000507198.1_Silent_p.T339T|FBXL2_ENST00000446237.3_Silent_p.T148T	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	407					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CCCCACCGACAGCAGTGGCAG	0.532000													11	220					0	0	0.435327	0	0
SNW1	22938	broad.mit.edu	37	14	78189539	78189539	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:78189539G>T	ENST00000261531.7	-	11	1177	c.1115C>A	c.(1114-1116)gCa>gAa	p.A372E	SNW1_ENST00000555761.1_Missense_Mutation_p.A372E|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.A210E	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	372					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATCAGGAGCTGCCCTGGAAAG	0.517000													35	182					7.63505e-26	9.57915e-26	0.760397	1	0
SLC6A18	348932	broad.mit.edu	37	5	1246007	1246007	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:1246007G>A	ENST00000324642.3	+	12	1824	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	567					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGGCTGGGCGCGCGCCGCCT	0.716000													4	60					0	0	0.150653	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54932700	54932700	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:54932700G>A	ENST00000293373.6	+	30	3295	c.3216G>A	c.(3214-3216)caG>caA	p.Q1072Q	NCKAP1L_ENST00000545638.2_Silent_p.Q1022Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1072					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCTGGGCCAGGAGACTGACA	0.448000													3	87					0	0	0.150653	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468481	72468481	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:72468481C>T	ENST00000373208.1	+	4	817	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R273C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	273	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTCGGTGGTTCGCTTCCATGG	0.617000													8	125					0	0	0.307466	0	0
GCAT	23464	broad.mit.edu	37	22	38209492	38209492	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:38209492C>T	ENST00000323205.6	+	4	593	c.530C>T	c.(529-531)gCa>gTa	p.A177V	GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000248924.6_Missense_Mutation_p.A151V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	151					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCAGAGGACGCAGTCCTGTCG	0.607000													5	14					0	0	0.184627	0	0
ATP2C2	9914	broad.mit.edu	37	16	84492949	84492949	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:84492949A>G	ENST00000416219.2	+	23	2379	c.2290A>G	c.(2290-2292)Atc>Gtc	p.I764V	ATP2C2_ENST00000262429.4_Missense_Mutation_p.I764V|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	764					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CGCCATGCAGATCCTATGGAT	0.637000													69	122					0	0	0.870114	0	0
DNAJC3	5611	broad.mit.edu	37	13	96412305	96412305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:96412305G>A	ENST00000602402.1	+	6	675	c.558G>A	c.(556-558)tgG>tgA	p.W186*	DNAJC3_ENST00000376795.6_Nonsense_Mutation_p.W135*	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	186					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			TTTGTGTTTGGGATGCAGAAC	0.343000													4	153					0	0	0.150653	0	0
ASXL3	80816	broad.mit.edu	37	18	31323177	31323177	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr18:31323177A>G	ENST00000269197.5	+	12	3365	c.3365A>G	c.(3364-3366)cAg>cGg	p.Q1122R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCTCTTCCAGACCTCTAAA	0.507000													3	32					0	0	0.115264	0	0
CBLN3	643866	broad.mit.edu	37	14	24900024	24900024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:24900024C>T	ENST00000555436.1	-	1	136	c.68G>A	c.(67-69)tGg>tAg	p.W23*	KHNYN_ENST00000556842.1_Missense_Mutation_p.H30Y|KHNYN_ENST00000251343.5_Missense_Mutation_p.H30Y|KHNYN_ENST00000553935.1_Missense_Mutation_p.H30Y			Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	0						cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		ACAGCAGCCCCATGTGGAGCG	0.667000													9	15					0	0	0.307466	0	0
USH2A	7399	broad.mit.edu	37	1	216073542	216073542	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:216073542G>C	ENST00000366943.2	-	40	7855	c.7469C>G	c.(7468-7470)tCt>tGt	p.S2490C	USH2A_ENST00000307340.3_Missense_Mutation_p.S2490C|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2490	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAACGATGCAGAAGGATTGGA	0.358000										HNSCC(13;0.011)			3	101					0	0	0.150653	0	0
C3orf22	152065	broad.mit.edu	37	3	126272152	126272152	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:126272152G>A	ENST00000318225.2	-	2	460	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	28										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CACCTGTACGGAAACTTCTTG	0.567000													6	467					0	0	0.217242	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19555888	19555888	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:19555888T>G	ENST00000397821.3	-	17	2193	c.1903A>C	c.(1903-1905)Aaa>Caa	p.K635Q	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.K374Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K598Q|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.K397Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	635					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AATAACTGTTTAATCTCTCGT	0.438000													61	27					0	0	0.870114	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713716	32713716	+	Missense_Mutation	SNP	G	G	C	rs35633399		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:32713716G>C	ENST00000374940.3	+	3	582	c.480G>C	c.(478-480)gaG>gaC	p.E160D		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	160	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGTTTCTGAGACCAGCTTCC	0.493000													8	376					0	0	0.335167	0	0
CUL4A	8451	broad.mit.edu	37	13	113914958	113914958	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:113914958A>C	ENST00000451881.1	+	19	2018	c.1769A>C	c.(1768-1770)cAg>cCg	p.Q590P	CUL4A_ENST00000326335.4_Missense_Mutation_p.Q590P|CUL4A_ENST00000375440.4_Missense_Mutation_p.Q690P|CUL4A_ENST00000375441.3_Missense_Mutation_p.Q590P	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	690					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGAGTGTTTCAGGATAGACAA	0.323000													3	70					0	0	0.115264	0	0
SLC11A2	4891	broad.mit.edu	37	12	51404506	51404506	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:51404506C>T	ENST00000394904.3	-	2	142	c.93G>A	c.(91-93)gtG>gtA	p.V31V	SLC11A2_ENST00000547688.1_Silent_p.V31V|SLC11A2_ENST00000541174.2_Silent_p.V2V|SLC11A2_ENST00000547198.1_Silent_p.V2V|SLC11A2_ENST00000262051.7_Silent_p.V2V|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000262052.5_Silent_p.V2V	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	2					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CAGGACCCAGCACCATGGTGG	0.363000													10	53					0	0	0.435327	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278537	7278537	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:7278537A>G	ENST00000436587.2	+	3	1095	c.872A>G	c.(871-873)tAt>tGt	p.Y291C	C1GALT1_ENST00000402468.3_Missense_Mutation_p.Y291C|C1GALT1_ENST00000223122.2_Missense_Mutation_p.Y291C	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	291					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AATTACAACTATTATCCTCCT	0.313000													107	50					0	0	0.870114	0	0
FGD4	121512	broad.mit.edu	37	12	32777925	32777925	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:32777925A>G	ENST00000427716.2	+	13	1982	c.1558A>G	c.(1558-1560)Atc>Gtc	p.I520V	FGD4_ENST00000534526.2_Missense_Mutation_p.I657V|FGD4_ENST00000525053.1_Missense_Mutation_p.I632V|FGD4_ENST00000546442.1_Missense_Mutation_p.I427V|FGD4_ENST00000266482.3_Missense_Mutation_p.I272V|FGD4_ENST00000531134.1_Missense_Mutation_p.I605V	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	520	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TCAAGAAACCATCGATGCTTT	0.308000													117	121					0	0	0.870114	0	0
RBM26	64062	broad.mit.edu	37	13	79911341	79911341	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:79911341C>A	ENST00000438737.2	-	19	3069	c.2629G>T	c.(2629-2631)Ggg>Tgg	p.G877W	RBM26_ENST00000438724.1_Missense_Mutation_p.G853W|RBM26_ENST00000267229.7_Missense_Mutation_p.G850W			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	877					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ACACCTCGCCCTCGCCCTCGC	0.557000													7	107					8.12818e-05	8.99077e-05	0.248553	1	0
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:35232200T>G	ENST00000392232.3	+	6	1214	c.1046T>G	c.(1045-1047)gTc>gGc	p.V349G	ZNF181_ENST00000459757.1_Missense_Mutation_p.V304G|ZNF181_ENST00000492450.1_Missense_Mutation_p.V305G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413000													5	124					0	0	0.184627	0	0
ZDHHC11	79844	broad.mit.edu	37	5	825360	825360	+	Silent	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGCTCTTGGCTTTGACTCTGG	0.552000													13	186					0	0	0.500413	0	0
UBXN1	51035	broad.mit.edu	37	11	62445536	62445536	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:62445536C>T	ENST00000294119.2	-	5	476	c.345G>A	c.(343-345)cgG>cgA	p.R115R	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Silent_p.R115R|UBXN1_ENST00000529640.1_Silent_p.R115R	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	115	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						CCAATGCCTCCCGTTCCTCTC	0.587000													5	124					0	0	0.217242	0	0
ABCB8	11194	broad.mit.edu	37	7	150737355	150737355	+	Splice_Site	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:150737355G>T	ENST00000358849.4	+	10	1311	c.1217_splice	c.e10-1	p.R406_splice	ABCB8_ENST00000498578.1_Splice_Site_p.R406_splice|ABCB8_ENST00000542328.1_Splice_Site_p.R318_splice|ABCB8_ENST00000356058.4_Splice_Site_p.V445_splice|ABCB8_ENST00000297504.6_Splice_Site_p.R423_splice	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	423	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCTGACAGGTCCATGGCCA	0.617000													6	158					0.00116845	0.00125158	0.217242	1	0
TMOD4	29765	broad.mit.edu	37	1	151146931	151146931	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:151146931C>T	ENST00000416280.2	-	3	315	c.216G>A	c.(214-216)ttG>ttA	p.L72L				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	124					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGTTGCTCCAAGTACTGCA	0.552000													73	288					0	0	0.870114	0	0
TBC1D12	23232	broad.mit.edu	37	10	96201765	96201765	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:96201765A>G	ENST00000225235.4	+	2	1194	c.1084A>G	c.(1084-1086)Atc>Gtc	p.I362V		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	362						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AACATCCAAAATCATTCAGCA	0.348000													3	117					0	0	0.115264	0	0
NOD1	10392	broad.mit.edu	37	7	30492295	30492295	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:30492295G>A	ENST00000423334.2	-	7	1043	c.602C>T	c.(601-603)aCa>aTa	p.T201I	NOD1_ENST00000222823.4_Silent_p.D246D			Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	201	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GACACAGCCTGTCACTTTCCT	0.617000													12	333					0	0	0.411799	0	0
TGFBR3	7049	broad.mit.edu	37	1	92177865	92177865	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:92177865G>A	ENST00000212355.4	-	13	2566	c.2101C>T	c.(2101-2103)Ctc>Ttc	p.L701F	TGFBR3_ENST00000370399.2_Missense_Mutation_p.L700F|TGFBR3_ENST00000525962.1_Missense_Mutation_p.L701F	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	701	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGTAGAAAGAGCAGTGAGGTG	0.478000													21	48					0	0	0.624587	0	0
GLP2R	9340	broad.mit.edu	37	17	9739771	9739771	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:9739771T>C	ENST00000262441.5	+	3	874	c.361T>C	c.(361-363)Tac>Cac	p.Y121H	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	121					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CTGCCCTTCATACTTACCTTG	0.448000													96	214					0	0	0.870114	0	0
PIBF1	10464	broad.mit.edu	37	13	73467981	73467981	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:73467981A>T	ENST00000326291.6	+	11	1720	c.1382A>T	c.(1381-1383)aAa>aTa	p.K461I		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	461						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CATCAAAGTAAATTAAAATCT	0.343000													32	81					0	0	0.740014	0	0
ECHS1	1892	broad.mit.edu	37	10	135182483	135182483	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:135182483T>C	ENST00000368547.3	-	4	813	c.458A>G	c.(457-459)tAt>tGt	p.Y153C		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	153					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CTCACCGGCATAGATGATATC	0.488000													17	53					0	0	0.575678	0	0
ATR	545	broad.mit.edu	37	3	142275364	142275364	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:142275364T>G	ENST00000350721.4	-	9	2060	c.1939A>C	c.(1939-1941)Ata>Cta	p.I647L	ATR_ENST00000383101.3_Missense_Mutation_p.I583L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	647					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAAGGAATATTCTTCTTGGA	0.383000								Other conserved DNA damage response genes					107	184					0	0	0.870114	0	0
NAT8	9027	broad.mit.edu	37	2	73868718	73868718	+	Missense_Mutation	SNP	T	T	C	rs74434404		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:73868718T>C	ENST00000272425.3	-	2	187	c.38A>G	c.(37-39)gAc>gGc	p.D13G		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	13					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						CCACTGGCGGTCGCTCTCCTG	0.587000													11	161					0	0	0.387290	0	0
PLOD2	5352	broad.mit.edu	37	3	145789099	145789099	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:145789099C>A	ENST00000282903.5	-	18	2137	c.1960G>T	c.(1960-1962)Gtt>Ttt	p.V654F	PLOD2_ENST00000461497.1_Missense_Mutation_p.V314F|PLOD2_ENST00000360060.3_Missense_Mutation_p.V633F|PLOD2_ENST00000494950.1_Missense_Mutation_p.V599F|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	633	Fe2OG dioxygenase.				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTCAGTGTAACTGGTGCAATG	0.408000													4	154					0.00024832	0.00027135	0.150653	1	0
MDM2	4193	broad.mit.edu	37	12	69233471	69233471	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:69233471A>G	ENST00000462284.1	+	11	1638	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V	MDM2_ENST00000360430.2_Missense_Mutation_p.I245V|MDM2_ENST00000356290.4_Missense_Mutation_p.I270V|MDM2_ENST00000350057.5_Missense_Mutation_p.I415V|MDM2_ENST00000258148.7_Missense_Mutation_p.I391V|MDM2_ENST00000348801.2_Missense_Mutation_p.I214V|MDM2_ENST00000299252.4_Missense_Mutation_p.I270V|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.I245V|MDM2_ENST00000517852.1_Missense_Mutation_p.I79V|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Missense_Mutation_p.I219V|MDM2_ENST00000258149.5_Missense_Mutation_p.I385V|MDM2_ENST00000393410.1_Missense_Mutation_p.I192V|MDM2_ENST00000393412.3_Missense_Mutation_p.I167V|MDM2_ENST00000393413.3_Missense_Mutation_p.I167V	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	440	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ACCTTGTGTGATTTGTCAAGG	0.408000			A		"""sarcoma, glioma, colorectal, other"""								9	114					0	0	0.335167	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572376	127572376	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:127572376C>T	ENST00000373580.3	+	8	1644	c.1644C>T	c.(1642-1644)atC>atT	p.I548I	OLFML2A_ENST00000288815.5_Silent_p.I334I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	548	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCGAGGTGATCGTCCTGAGTC	0.662000													47	46					0	0	0.870114	0	0
PCDH15	65217	broad.mit.edu	37	10	56138621	56138621	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:56138621T>C	ENST00000373965.2	-	4	633	c.239A>G	c.(238-240)aAt>aGt	p.N80S	PCDH15_ENST00000395440.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395432.2_Missense_Mutation_p.N80S|PCDH15_ENST00000361849.3_Missense_Mutation_p.N80S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.N80S|PCDH15_ENST00000373957.3_Missense_Mutation_p.N58S|PCDH15_ENST00000320301.6_Missense_Mutation_p.N80S|PCDH15_ENST00000437009.1_Missense_Mutation_p.N80S|PCDH15_ENST00000373955.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395430.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395433.1_Missense_Mutation_p.N58S|PCDH15_ENST00000395442.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395446.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395445.1_Missense_Mutation_p.N80S|PCDH15_ENST00000414778.1_Missense_Mutation_p.N85S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	80	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTAATCCACATTATCCTTTAA	0.423000										HNSCC(58;0.16)			37	300					0	0	0.804634	0	0
SLC19A3	80704	broad.mit.edu	37	2	228560672	228560672	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:228560672T>C	ENST00000258403.3	-	4	1176	c.1105A>G	c.(1105-1107)Atc>Gtc	p.I369V	SLC19A3_ENST00000541617.1_Missense_Mutation_p.I365V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	369					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CACGCCCAGATATTGGCTGTG	0.428000													6	109					0	0	0.217242	0	0
OR5L2	26338	broad.mit.edu	37	11	55595192	55595192	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:55595192C>A	ENST00000378397.1	+	1	498	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I166I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCTTAGGATCCTCTTCTATA	0.478000										HNSCC(27;0.073)			13	431					0.00185496	0.00197911	0.435327	1	0
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)del	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665													7	3	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141110541	141110542	+	Frame_Shift_Ins	INS	-	-	TT	rs144480841		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:141110541_141110542insTT	ENST00000389484.3	-	76	12601_12602	c.11630_11631insAA	c.(11629-11631)aaafs	p.K3877fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3877	EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.N3877S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCAGGTGTTATTTCTTTCTTG	0.307										TSP Lung(27;0.18)			12	271	---	---	---	---					
AC018359.1	0	broad.mit.edu	37	3	34317623	34317626	+	RNA	DEL	TCCT	TCCT	-	rs75774239		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:34317623_34317626delTCCT	ENST00000424786.1	+	0	159																											cctccctccctcctttccttcctt	0.520													3	6	---	---	---	---					
ZMYND10	51364	broad.mit.edu	37	3	50380780	50380781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:50380780_50380781insC	ENST00000231749.3	-	5	1739_1740	c.467_468insG	c.(466-468)gccfs	p.A156fs	ZMYND10_ENST00000360165.3_Frame_Shift_Ins_p.A156fs|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	156						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTCAGGGGGGCCACCACAGCC	0.604										TSP Lung(30;0.18)			7	120	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187542087	187542088	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:187542087_187542088insA	ENST00000441802.2	-	10	5861_5862	c.5652_5653insT	c.(5650-5655)taaagcfs	p.*S1884fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1884	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGAGATGCTTCATATAATGGCT	0.396										HNSCC(5;0.00058)			16	56	---	---	---	---					
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:32789822_32789823delGT	ENST00000326958.1	+	1	878_879	c.315_316delGT	c.(313-318)gggtfs	p.GC105fs	NPR3_ENST00000265074.8_3'UTR																							CTGATTTTGGGTGTGTGTGTGT	0.421													10	322	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggfs	p.G907fs	ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378													8	2177	---	---	---	---					
FAM153B	202134	broad.mit.edu	37	5	175540969	175540989	+	In_Frame_Del	DEL	AAGCCCAAGAAGAAAACCAGG	AAGCCCAAGAAGAAAACCAGG	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:175540969_175540989delAAGCCCAAGAAGAAAACCAGG	ENST00000253490.4	+	21	1138_1158	c.1081_1101delAAGCCCAAGAAGAAAACCAGG	c.(1081-1101)del	p.KPKKKTR361del	FAM153B_ENST00000512862.1_In_Frame_Del_p.KPKKKTR118del|FAM153B_ENST00000515817.1_In_Frame_Del_p.KPKKKTR284del|FAM153B_ENST00000510151.1_In_Frame_Del_p.KPKKKTR284del			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	361										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GAAAACCAGAAAGCCCAAGAAGAAAACCAGGAAGCCCAGCA	0.471													4	7	---	---	---	---					
HLA-DQB1	3119	broad.mit.edu	37	6	32632675	32632675	+	Frame_Shift_Del	DEL	C	C	-	rs41556424		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:32632675delC	ENST00000399084.1	-	3	457	c.279delG	c.(277-279)tgfs	p.W93fs	HLA-DQB1_ENST00000434651.2_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000374943.4_Frame_Shift_Del_p.W93fs			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	93	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGGCTGTTCCAGTACTCGG	0.637									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				8	206	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													8	664	---	---	---	---					
UBXN8	7993	broad.mit.edu	37	8	30612473	30612474	+	RNA	INS	-	-	T	rs34741520		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:30612473_30612474insT	ENST00000519246.1	+	0	604							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						GGGGTTGGTCGttttttttttt	0.391													3	5	---	---	---	---					
RP11-10H3.1	0	broad.mit.edu	37	8	50103332	50103333	+	RNA	INS	-	-	CTTC	rs79172779	by1000genomes	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:50103332_50103333insCTTC	ENST00000518222.1	+	0	271																											ttccttccttcctttcttcctt	0.416													3	4	---	---	---	---					
ERCC6L2	375748	broad.mit.edu	37	9	98718215	98718215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:98718215delT	ENST00000288985.7	+	13	2205	c.1900delT	c.(1900-1902)gtfs	p.C634fs	ERCC6L2_ENST00000437817.1_Frame_Shift_Del_p.C445fs|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	634	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GATTGGACAATGTAGAGATGT	0.358													14	170	---	---	---	---					
PGAM1	5223	broad.mit.edu	37	10	99186064	99186065	+	Translation_Start_Site	INS	-	-	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:99186064_99186065insA	ENST00000334828.5	+	0	148_149					NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)						gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		AGCCCGCCGCCATGGCCGCCTA	0.713													12	41	---	---	---	---					
KBTBD4	55709	broad.mit.edu	37	11	47594940	47594940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:47594940delC	ENST00000533290.1	-	3	1888	c.1174delG	c.(1174-1176)ctfs	p.A392fs	PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.A367fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.A367fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.A383fs|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	367										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCTGACACAGCCACCTCTAGC	0.507													9	128	---	---	---	---					
FAM111B	374393	broad.mit.edu	37	11	58892538	58892542	+	Frame_Shift_Del	DEL	AAATT	AAATT	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:58892538_58892542delAAATT	ENST00000343597.3	+	4	1159_1163	c.968_972delAAATT	c.(967-972)cfs	p.QI323fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.QI293fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.QI293fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	323							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGCAGAGAGCAAATTCTCCCACCTC	0.366													12	177	---	---	---	---					
TMPRSS13	84000	broad.mit.edu	37	11	117789435	117789449	+	In_Frame_Del	DEL	GCTGGAGATGCCTGG	GCTGGAGATGCCTGG	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:117789435_117789449delGCTGGAGATGCCTGG	ENST00000528626.1	-	2	199_213	c.126_140delCCAGGCATCTCCAGC	c.(124-141)gct>gc	p.AQASPA42del	TMPRSS13_ENST00000524993.1_In_Frame_Del_p.AQASPA42del|TMPRSS13_ENST00000526090.1_In_Frame_Del_p.AQASPA42del|TMPRSS13_ENST00000445164.2_In_Frame_Del_p.AQASPA42del|TMPRSS13_ENST00000430170.2_In_Frame_Del_p.AQASPA42del	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	42	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGGTGTCCCAGCTGGAGATGCCTGGGCTGGAGATG	0.660													51	53	---	---	---	---					
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-	rs142692092	by1000genomes	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggt>gg	p.GGAGGFG132del	KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633													10	11	---	---	---	---					
NRXN3	9369	broad.mit.edu	37	14	79933679	79933679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:79933679delG	ENST00000281127.7	+	2	1242	c.363delG	c.(361-363)gtfs	p.V121fs	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000335750.5_Frame_Shift_Del_p.V753fs|NRXN3_ENST00000557594.1_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000554719.1_Frame_Shift_Del_p.V753fs	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	121	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCACCACTGTGAAGGATGGCA	0.562													7	289	---	---	---	---					
MIR381HG	378881	broad.mit.edu	37	14	101513129	101513130	+	RNA	INS	-	-	TGG	rs60759868	by1000genomes	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:101513129_101513130insTGG	ENST00000553692.1	+	0	28																											GAAACTATCATtggtggtggtg	0.515													2	4	---	---	---	---					
IGHV3-21	28444	broad.mit.edu	37	14	106691798	106691800	+	RNA	DEL	AAC	AAC	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:106691798_106691800delAAC	ENST00000390607.2	-	0	302_304																											TAGTATATGTAACTACTACTACT	0.517													30	583	---	---	---	---					
MAPK6	5597	broad.mit.edu	37	15	52338753	52338754	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:52338753_52338754insT	ENST00000261845.5	+	2	903_904	c.96_97insT	c.(94-99)ggtggtfs	p.G33fs		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	33	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GAGGCAATGGCTTGGTTTTTTC	0.396													18	174	---	---	---	---					
LINGO1	84894	broad.mit.edu	37	15	77907760	77907760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:77907760delA	ENST00000355300.6	-	2	663	c.489delT	c.(487-489)ttfs	p.F163fs	LINGO1_ENST00000561030.1_Frame_Shift_Del_p.F157fs	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	163					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGGTCCTGAAACATGTAGT	0.552													13	283	---	---	---	---					
KCNAB3	9196	broad.mit.edu	37	17	7829006	7829007	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:7829006_7829007insT	ENST00000303790.2	-	7	531_532	c.532_533insA	c.(532-534)tgafs	p.*178fs		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	178						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CTCACCCTCAATGATGTGCTTT	0.500													70	681	---	---	---	---					
ITPKC	80271	broad.mit.edu	37	19	41223266	41223267	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:41223266_41223267insT	ENST00000263370.2	+	1	259_260	c.226_227insT	c.(226-228)cggfs	p.R76fs		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	76						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGGGCCGGCCTCGGGCCTGCG	0.757													7	29	---	---	---	---					
SUN2	25777	broad.mit.edu	37	22	39141797	39141797	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:39141797delG	ENST00000405510.1	-	9	1063	c.705delC	c.(703-705)ccfs	p.P235fs	SUN2_ENST00000216064.4_Frame_Shift_Del_p.P235fs|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Frame_Shift_Del_p.P224fs|SUN2_ENST00000406622.1_Frame_Shift_Del_p.P235fs|SUN2_ENST00000405018.1_Frame_Shift_Del_p.P256fs	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	235					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GCAGCCCATAGGGGTAGAAAT	0.622													21	39	---	---	---	---					
NUP50	10762	broad.mit.edu	37	22	45579372	45579372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:45579372delA	ENST00000347635.3	+	7	1641	c.1175delA	c.(1174-1176)cgfs	p.Q392fs	NUP50_ENST00000407019.2_Frame_Shift_Del_p.Q364fs|NUP50_ENST00000396096.2_Frame_Shift_Del_p.Q364fs|NUP50_ENST00000425733.2_Frame_Shift_Del_p.Q142fs	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	392	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGAAGACACAGCTTTTGGTG	0.383													34	84	---	---	---	---					
