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
HPX	3263	broad.mit.edu	37	11	6452483	6452483	+	Silent	SNP	C	C	T	rs143855789		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:6452483C>T	ENST00000265983.3	-	10	1447	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	449					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TCTGGGGTTGCGGAAGGGCCT	0.542000													6	69					0	0	0.001168	0	0
OR52D1	390066	broad.mit.edu	37	11	5509984	5509984	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:5509984C>T	ENST00000322641.5	+	1	70	c.48C>T	c.(46-48)ttC>ttT	p.F16F	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACCTTCTTCTTAACAGGGA	0.488000													18	67					0	0	0.008871	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092703	151092703	+	Silent	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:151092703C>G	ENST00000360243.2	+	3	834	c.567C>G	c.(565-567)ggC>ggG	p.G189G	MAGEA4_ENST00000370340.3_Silent_p.G189G|MAGEA4_ENST00000370335.1_Silent_p.G189G|MAGEA4_ENST00000370337.4_Silent_p.G189G|MAGEA4_ENST00000393921.1_Silent_p.G189G|MAGEA4_ENST00000276344.2_Silent_p.G189G|MAGEA4_ENST00000393920.1_Silent_p.G189G	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	189	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATGATGGCCTGCTGGGTA	0.537000													15	161					0	0	0.002450	0	0
RBP3	5949	broad.mit.edu	37	10	48388751	48388751	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:48388751C>T	ENST00000224600.4	-	1	2240	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	709	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTTCCTCTACCACCAGCTCGC	0.627000													15	51					0	0	0.004007	0	0
WDR62	284403	broad.mit.edu	37	19	36572390	36572390	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:36572390C>T	ENST00000401500.2	+	10	1324	c.1289C>T	c.(1288-1290)aCt>aTt	p.T430I	WDR62_ENST00000388999.3_Missense_Mutation_p.T430I|WDR62_ENST00000270301.7_Missense_Mutation_p.T430I	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	430					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCTTTCTGACTTGTTCTTCA	0.468000													15	115					0	0	0.003163	0	0
SNTG1	54212	broad.mit.edu	37	8	51571204	51571204	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:51571204T>C	ENST00000522124.1	+	15	1680	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	SNTG1_ENST00000276467.5_Missense_Mutation_p.I340T|SNTG1_ENST00000518864.1_Missense_Mutation_p.I340T|SNTG1_ENST00000517473.1_Missense_Mutation_p.I340T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	340	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTTATGAGATTATGTGCAAG	0.358000													26	30					0	0	0.007291	0	0
LANCL3	347404	broad.mit.edu	37	X	37431412	37431412	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:37431412A>T	ENST00000378621.3	+	1	591	c.289A>T	c.(289-291)Aag>Tag	p.K97*	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Nonsense_Mutation_p.K97*	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	97							catalytic activity			lung(4)|pancreas(1)	5						GCGCTCGGCTAAGCGCCTCAT	0.716000													4	13					0	0	0.000248	0	0
SPATA17	128153	broad.mit.edu	37	1	217856693	217856693	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:217856693G>T	ENST00000366933.4	+	5	440	c.385G>T	c.(385-387)Gat>Tat	p.D129Y		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	129						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAGACCAATGATGCAATTAG	0.343000													61	60					4.09171e-25	1.10677e-24	0.003610	1	0
SERPINB9	5272	broad.mit.edu	37	6	2900802	2900802	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:2900802A>G	ENST00000380698.4	-	2	133	c.44T>C	c.(43-45)cTt>cCt	p.L15P		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	15					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TATCTTTAAAAGGCGTATGGC	0.473000													3	162					0	0	0.000248	0	0
SPTAN1	6709	broad.mit.edu	37	9	131367378	131367378	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:131367378G>C	ENST00000358161.5	+	30	3898	c.3785G>C	c.(3784-3786)gGa>gCa	p.G1262A	SPTAN1_ENST00000372731.4_Missense_Mutation_p.G1262A|SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1262A			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1262					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GACAATTATGGACATGATCTC	0.488000													5	42					0	0	0.000602	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351652	89351652	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:89351652A>C	ENST00000301030.4	-	9	1758	c.1298T>G	c.(1297-1299)aTa>aGa	p.I433R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.I433R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	433						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACCAGGCAATATCGTATGTGC	0.488000													6	89					0	0	0.001984	0	0
PRG4	10216	broad.mit.edu	37	1	186277190	186277190	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:186277190G>A	ENST00000445192.2	+	7	2384	c.2339G>A	c.(2338-2340)gGg>gAg	p.G780E	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.G739E|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367485.4_Missense_Mutation_p.G687E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	780	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGGGACTGCTCCA	0.607000													5	231					0	0	0.000602	0	0
SFR1	119392	broad.mit.edu	37	10	105882813	105882813	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:105882813C>T	ENST00000336358.5	+	1	809	c.290C>T	c.(289-291)tCa>tTa	p.S97L	SFR1_ENST00000463224.1_3'UTR|SFR1_ENST00000369729.3_Missense_Mutation_p.S22L|SFR1_ENST00000369727.3_Missense_Mutation_p.S35L			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	35					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	p.S22L(1)									GCGAATCCATCATCTCCCTAT	0.398000													13	105					0	0	0.004007	0	0
MKI67	4288	broad.mit.edu	37	10	129913712	129913712	+	Silent	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:129913712T>C	ENST00000368654.3	-	7	1335	c.960A>G	c.(958-960)ggA>ggG	p.G320G	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	320					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCACGTCTCTTCCCTTCCCCT	0.547000													18	79					0	0	0.004990	0	0
IGSF10	285313	broad.mit.edu	37	3	151161398	151161398	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:151161398C>A	ENST00000282466.3	-	5	5336	c.5337G>T	c.(5335-5337)tgG>tgT	p.W1779C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1779	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCAAGAATCCAGGTAACTG	0.498000													16	93					9.16793e-09	2.35136e-08	0.004990	1	0
SULF1	23213	broad.mit.edu	37	8	70476367	70476367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:70476367C>T	ENST00000260128.4	+	5	874	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	SULF1_ENST00000402687.4_Nonsense_Mutation_p.Q53*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.Q53*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.Q53*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	53					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACCGATGATCAAGATGTGGA	0.468000													26	108					0	0	0.005443	0	0
PGM5	5239	broad.mit.edu	37	9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:71098810C>T	ENST00000396396.1	+	9	1554	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATCCCAAGACGACATATTAT	0.512000													15	51					0	0	0.002450	0	0
SETMAR	6419	broad.mit.edu	37	3	4355272	4355272	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:4355272C>G	ENST00000358065.4	+	2	914	c.847C>G	c.(847-849)Cta>Gta	p.L283V	SETMAR_ENST00000430981.1_Missense_Mutation_p.L283V|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	270	Histone-lysine N-methyltransferase.|Post-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCATGGGAAACTAAGGAAACC	0.403000								Chromatin Structure					10	34					0	0	0.008291	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	24					0	0	0.003080	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378780	31378780	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:31378780C>G	ENST00000297142.3	-	2	425	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	35					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAAAGCTTTCTGGCTTCTTA	0.448000													37	121					0	0	0.004289	0	0
BAGE2	85319	broad.mit.edu	37	21	11047519	11047519	+	RNA	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr21:11047519T>A	ENST00000470054.1	-	0	735									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATTTCATAATTCGTTGAAGA	0.348000													7	325					0	0	0.003080	0	0
FOXG1	2290	broad.mit.edu	37	14	29237757	29237757	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:29237757G>A	ENST00000382535.3	+	2	1641	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	FOXG1_ENST00000313071.4_Silent_p.P424P			P55316	FOXG1_HUMAN	forkhead box G1	424					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCCGCACCCGTCAATGACTT	0.657000													15	47					0	0	0.004990	0	0
FOXRED2	80020	broad.mit.edu	37	22	36900343	36900343	+	Missense_Mutation	SNP	G	G	A	rs142793535		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:36900343G>A	ENST00000397224.4	-	4	944	c.851C>T	c.(850-852)aCg>aTg	p.T284M	FOXRED2_ENST00000216187.6_Missense_Mutation_p.T284M|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T284M	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	284					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCCAGATCCGTCAGGTCAGA	0.562000													24	46					0	0	0.002780	0	0
CDON	50937	broad.mit.edu	37	11	125848248	125848248	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:125848248T>A	ENST00000392693.3	-	18	3434	c.3307A>T	c.(3307-3309)Att>Ttt	p.I1103F	CDON_ENST00000531738.1_Missense_Mutation_p.I480F|CDON_ENST00000263577.7_Missense_Mutation_p.I1103F	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1103					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AGAGGGTCAATCTGAGGCACG	0.453000													5	20					0	0	0.001168	0	0
MED23	9439	broad.mit.edu	37	6	131917269	131917269	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:131917269G>A	ENST00000403834.3	-	22	3004	c.2831C>T	c.(2830-2832)gCg>gTg	p.A944V	MED23_ENST00000545957.1_Missense_Mutation_p.A579V|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Missense_Mutation_p.A938V|MED23_ENST00000354577.4_Missense_Mutation_p.A944V|MED23_ENST00000368068.3_Missense_Mutation_p.A938V|MED23_ENST00000368058.1_Missense_Mutation_p.A944V			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	938					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CACCTGTTCCGCGAGGCCCTC	0.383000													25	70					0	0	0.003954	0	0
TMC4	147798	broad.mit.edu	37	19	54666830	54666830	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:54666830G>A	ENST00000376591.4	-	9	1489	c.1358C>T	c.(1357-1359)aCt>aTt	p.T453I	TMC4_ENST00000301187.4_Missense_Mutation_p.T447I|TMC4_ENST00000416963.1_Missense_Mutation_p.T35I	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	453						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCCCACAAGTGATCTGATT	0.582000													25	48					0	0	0.002780	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	53					0	0	0.000602	0	0
SYNRG	11276	broad.mit.edu	37	17	35880712	35880712	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:35880712G>A	ENST00000339208.6	-	20	3846	c.3706C>T	c.(3706-3708)Cgg>Tgg	p.R1236W	SYNRG_ENST00000502449.2_Missense_Mutation_p.R1113W|SYNRG_ENST00000591288.1_Missense_Mutation_p.R1030W|SYNRG_ENST00000585472.1_Missense_Mutation_p.R1157W|SYNRG_ENST00000346661.4_Missense_Mutation_p.R1236W|SYNRG_ENST00000345615.4_Missense_Mutation_p.R1158W|SYNRG_ENST00000394378.2_Missense_Mutation_p.R1181W	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1236					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						ATCCCAGGCCGTAACATACAG	0.517000													14	52					0	0	0.004007	0	0
HHLA2	11148	broad.mit.edu	37	3	108072558	108072558	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:108072558G>A	ENST00000357759.5	+	4	763	c.349G>A	c.(349-351)Gga>Aga	p.G117R	HHLA2_ENST00000467562.1_Missense_Mutation_p.G53R|HHLA2_ENST00000491820.1_Missense_Mutation_p.G117R|HHLA2_ENST00000489514.2_Missense_Mutation_p.G117R|HHLA2_ENST00000467761.1_Missense_Mutation_p.G117R	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	117	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCTGGACGAAGGAATTTACAC	0.403000													15	34					0	0	0.003163	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328941	6328941	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:6328941G>A	ENST00000344545.5	+	1	593	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	TPD52L3_ENST00000381428.1_Missense_Mutation_p.A116T|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A116T	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	116							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GAAGAAGTCGGCCACATTCAG	0.517000													12	74					0	0	0.000978	0	0
USP32	84669	broad.mit.edu	37	17	58329765	58329765	+	Silent	SNP	C	C	T	rs61751977	byFrequency	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:58329765C>T	ENST00000300896.4	-	11	1307	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	USP32_ENST00000592339.1_Silent_p.P41P|USP32_ENST00000393003.3_Silent_p.P371P	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	371	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTCTTCTTCCGGAGTAGCTG	0.328000													6	22					0	0	0.001168	0	0
ITK	3702	broad.mit.edu	37	5	156668657	156668657	+	Splice_Site	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:156668657C>T	ENST00000422843.3	+	11	1139	c.985_splice	c.e11-1	p.G329_splice	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	329	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAACCCAGGCCTGGTGACTC	0.448000			T	SYK	peripheral T-cell lymphoma								9	24					0	0	0.006214	0	0
TRAM1	23471	broad.mit.edu	37	8	71520380	71520380	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:71520380C>T	ENST00000262213.2	-	1	224	c.55G>A	c.(55-57)Gtc>Atc	p.V19I	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	19					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTCTGCAGGACGAATTCGTGG	0.662000													24	103					0	0	0.003954	0	0
PTPRU	10076	broad.mit.edu	37	1	29650167	29650167	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:29650167C>T	ENST00000323874.8	+	29	4107	c.3997C>T	c.(3997-3999)Cgg>Tgg	p.R1333W	PTPRU_ENST00000345512.3_Missense_Mutation_p.R1337W|PTPRU_ENST00000356870.3_Missense_Mutation_p.R1333W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R1331W|PTPRU_ENST00000428026.2_Missense_Mutation_p.R1324W|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1327W			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1337	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCTGGTGCGGCACTTCCA	0.642000													31	26					0	0	0.001786	0	0
F8	2157	broad.mit.edu	37	X	154159320	154159320	+	Silent	SNP	T	T	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:154159320T>G	ENST00000360256.4	-	14	2945	c.2745A>C	c.(2743-2745)gcA>gcC	p.A915A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	915	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATCAGTACCTGCTGCCAAAT	0.378000													5	82					0	0	0.001168	0	0
FOXR2	139628	broad.mit.edu	37	X	55650595	55650595	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:55650595G>A	ENST00000339140.3	+	1	763	c.451G>A	c.(451-453)Gac>Aac	p.D151N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	151					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TTCCCCCAGTGACTTTGAGCT	0.502000													9	54					0	0	0.004482	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841969	27841969	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:27841969G>A	ENST00000318304.8	+	26	2819	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.V815I|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.V693I|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.V840I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	846	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCGTTTTAACGTAGAAACAAT	0.378000													15	72					0	0	0.003163	0	0
TENM1	10178	broad.mit.edu	37	X	123518065	123518065	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:123518065C>G	ENST00000422452.2	-	30	6779	c.6716G>C	c.(6715-6717)gGc>gCc	p.G2239A	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G2232A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGCAGCAGGCCATTAGAATT	0.463000													9	82					0	0	0.004482	0	0
MGEA5	10724	broad.mit.edu	37	10	103558656	103558656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:103558656C>T	ENST00000361464.3	-	9	2147	c.1752G>A	c.(1750-1752)tgG>tgA	p.W584*	MGEA5_ENST00000357797.5_Nonsense_Mutation_p.W531*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.W531*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.W584*|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	584	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGCTCGAAGCCATTGAAATT	0.443000													11	91					0	0	0.000978	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													3	85					0	0	0.000248	0	0
MED13L	23389	broad.mit.edu	37	12	116434432	116434432	+	Missense_Mutation	SNP	T	T	C	rs35760315		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:116434432T>C	ENST00000281928.3	-	16	3051	c.2845A>G	c.(2845-2847)Atg>Gtg	p.M949V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	949					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAGCAAACATGGAGGATCCC	0.438000													10	41					0	0	0.001368	0	0
NECAB1	64168	broad.mit.edu	37	8	91929759	91929759	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:91929759A>T	ENST00000417640.2	+	6	734	c.397A>T	c.(397-399)Aga>Tga	p.R133*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	133					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATTCGTAACTAGATTTTTATT	0.403000													14	28					0	0	0.001855	0	0
HSPG2	3339	broad.mit.edu	37	1	22173889	22173889	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:22173889A>G	ENST00000374695.3	-	62	8201	c.8122T>C	c.(8122-8124)Tcc>Ccc	p.S2708P	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2708	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATGACGATGGAGGCCTCCAGG	0.627000													3	99					0	0	0.004672	0	0
POTEC	388468	broad.mit.edu	37	18	14537869	14537869	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:14537869G>T	ENST00000358970.5	-	3	740	c.741C>A	c.(739-741)gtC>gtA	p.V247V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	247										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTCATTGTGGACAGCATAGT	0.353000													40	82					4.34086e-07	1.09629e-06	0.005524	1	0
MPP1	4354	broad.mit.edu	37	X	154013398	154013398	+	Missense_Mutation	SNP	C	C	T	rs146674414		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:154013398C>T	ENST00000413259.3	-	8	1014	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	MPP1_ENST00000393531.1_Missense_Mutation_p.E218K|MPP1_ENST00000369534.3_Missense_Mutation_p.E238K|MPP1_ENST00000462825.1_5'UTR	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	238	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCGGGGCTTCGCTAGGAGCT	0.552000													4	25					0	0	0.000602	0	0
NXF3	56000	broad.mit.edu	37	X	102337969	102337969	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:102337969C>T	ENST00000395065.3	-	7	755	c.654G>A	c.(652-654)caG>caA	p.Q218Q	NXF3_ENST00000425463.2_Silent_p.Q129Q|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	218						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAAGAGCTTCCTGGGAGACAT	0.498000													33	308					0	0	0.002445	0	0
RPRD2	23248	broad.mit.edu	37	1	150445676	150445676	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:150445676C>T	ENST00000401000.4	+	10	4239	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R1418W			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1418	Pro-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						ACGGAGTCCCCGGCCAGACTT	0.582000													76	47					0	0	0.003610	0	0
KSR2	283455	broad.mit.edu	37	12	118406030	118406030	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:118406030C>A	ENST00000339824.5	-	1	758	c.31G>T	c.(31-33)Gag>Tag	p.E11*				Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	11					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGCTGCTCCTCGCTTTTC	0.522000													7	110					0.00198382	0.00483739	0.001984	1	0
PLEC	5339	broad.mit.edu	37	8	145012832	145012832	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:145012832G>T	ENST00000322810.4	-	2	721	c.552C>A	c.(550-552)acC>acA	p.T184T	PLEC_ENST00000357649.2_Silent_p.T51T|PLEC_ENST00000356346.3_Silent_p.T33T|PLEC_ENST00000354958.2_Silent_p.T25T|PLEC_ENST00000354589.3_Silent_p.T47T|PLEC_ENST00000398774.2_Silent_p.T15T|PLEC_ENST00000527096.1_Silent_p.T74T|PLEC_ENST00000345136.3_Silent_p.T47T|PLEC_ENST00000436759.2_Silent_p.T74T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	184	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTTGGTGAAGGTTTTCTTCT	0.637000													17	85					6.94344e-10	1.81852e-09	0.006122	1	0
EPB42	2038	broad.mit.edu	37	15	43503700	43503700	+	Missense_Mutation	SNP	G	G	A	rs146473183		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:43503700G>A	ENST00000300215.3	-	4	1010	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	EPB42_ENST00000540029.1_Missense_Mutation_p.R77C|EPB42_ENST00000441366.2_Missense_Mutation_p.R155C			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	155					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TACTCCATGCGCTGAGCCTCA	0.582000													29	56					0	0	0.008361	0	0
KMT2D	8085	broad.mit.edu	37	12	49447796	49447796	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:49447796A>G	ENST00000301067.7	-	5	637	c.638T>C	c.(637-639)cTa>cCa	p.L213P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCTGGGCATAGCAGCTGCAG	0.542000													18	69					0	0	0.004990	0	0
ATP1A4	480	broad.mit.edu	37	1	160141474	160141474	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:160141474T>C	ENST00000368081.4	+	12	2252	c.1781T>C	c.(1780-1782)cTc>cCc	p.L594P	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	594					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTGTGGGCCTCATATCCATG	0.488000													3	192					0	0	0.000248	0	0
OR5H6	79295	broad.mit.edu	37	3	97983841	97983841	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:97983841T>C	ENST00000383696.2	+	1	754	c.713T>C	c.(712-714)cTc>cCc	p.L238P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAATTATCCTCTTTACAATC	0.353000													4	35					0	0	0.000248	0	0
BNC1	646	broad.mit.edu	37	15	83932492	83932492	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:83932492G>A	ENST00000345382.2	-	4	1596	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.T497M	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	504					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TATCCCAGGCGTGTTTGCTAC	0.512000													27	67					0	0	0.005443	0	0
ARMCX3	51566	broad.mit.edu	37	X	100879979	100879979	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:100879979G>A	ENST00000341189.4	+	5	876	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	ARMCX3_ENST00000537169.1_Missense_Mutation_p.A4T|ARMCX3_ENST00000471229.2_Missense_Mutation_p.A4T	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	4						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						CATGGGCTACGCCAGGAAAGT	0.557000													15	80					0	0	0.004007	0	0
MKL1	57591	broad.mit.edu	37	22	40815260	40815260	+	Silent	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:40815260A>G	ENST00000396617.3	-	12	1772	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	MKL1_ENST00000407029.1_Silent_p.P394P|MKL1_ENST00000402042.1_Silent_p.P344P|MKL1_ENST00000355630.3_Silent_p.P394P			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	394					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AGGTGGCGGCAGGGGCCTTGG	0.657000			T	RBM15	acute megakaryocytic leukemia								6	16					0	0	0.001984	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432010	117432010	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:117432010C>T	ENST00000160373.3	-	4	1331	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	414	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGAGCTATGCCTGGTGTTTGA	0.527000													4	142					0	0	0.000248	0	0
ZMYM3	9203	broad.mit.edu	37	X	70461117	70461117	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:70461117G>A	ENST00000373998.1	-	24	4541	c.3844C>T	c.(3844-3846)Cgc>Tgc	p.R1282C	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1294C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1296C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1204C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1294C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1294					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACAGGGCAGCGGAGGGGATTC	0.507000													5	39					0	0	0.001168	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													3	12					0	0	0.000248	0	0
SUV39H1	6839	broad.mit.edu	37	X	48564736	48564736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:48564736C>A	ENST00000376687.3	+	4	1099	c.909C>A	c.(907-909)taC>taA	p.Y303*	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000453214.2_Missense_Mutation_p.T151K|SUV39H1_ENST00000337852.6_Nonsense_Mutation_p.Y314*	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	303	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	p.Y303Y(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACCTGGACTACGTGGAGGACG	0.612000													13	69					6.31663e-08	1.60345e-07	0.003163	1	0
OSER1	51526	broad.mit.edu	37	20	42825851	42825851	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr20:42825851C>T	ENST00000372970.2	-	6	900	c.720G>A	c.(718-720)tcG>tcA	p.S240S	OSER1_ENST00000255174.2_Silent_p.S240S					oxidative stress responsive serine-rich 1																		TGGCGTGCAGCGACTGAGAGT	0.532000													8	102					0	0	0.003080	0	0
ALS2	57679	broad.mit.edu	37	2	202625656	202625656	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:202625656T>A	ENST00000264276.6	-	4	1433	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	ALS2_ENST00000467448.1_Missense_Mutation_p.D354V	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	354					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TACTGAATGATCTGACAGTTT	0.413000													17	74					0	0	0.006122	0	0
SLMAP	7871	broad.mit.edu	37	3	57898145	57898145	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:57898145C>T	ENST00000295951.3	+	18	2852	c.1635C>T	c.(1633-1635)ctC>ctT	p.L545L	SLMAP_ENST00000442599.2_Silent_p.L30L|SLMAP_ENST00000494088.1_Silent_p.L55L|SLMAP_ENST00000295952.3_Silent_p.L545L|SLMAP_ENST00000495364.1_Silent_p.L96L|SLMAP_ENST00000428312.1_Silent_p.L562L|SLMAP_ENST00000449503.2_Silent_p.L524L|SLMAP_ENST00000416870.1_Silent_p.L55L|SLMAP_ENST00000472546.1_3'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	562					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTGAGAATCTCCGGGAGGAGA	0.413000													11	56					0	0	0.008291	0	0
ZNF99	7652	broad.mit.edu	37	19	22941431	22941431	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:22941431C>A	ENST00000397104.3	-	5	1006	c.1007G>T	c.(1006-1008)tGt>tTt	p.C336F	ZNF99_ENST00000596209.1_Missense_Mutation_p.C427F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTCTTCACATTTGCAGGG	0.373000													29	65					1.75199e-13	4.63761e-13	0.007291	1	0
MAN2B1	4125	broad.mit.edu	37	19	12763060	12763060	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:12763060G>A	ENST00000456935.2	-	16	1993	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	MAN2B1_ENST00000221363.4_Silent_p.N650N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	651					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTCACTTTCGTTGTCACCTA	0.602000													22	94					0	0	0.002780	0	0
FAM83H	286077	broad.mit.edu	37	8	144811234	144811234	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:144811234G>T	ENST00000388913.3	-	4	765	c.640C>A	c.(640-642)Ccc>Acc	p.P214T		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	214					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TAGTAGGTGGGGCCCGCCACA	0.627000													31	112					3.90053e-15	1.03804e-14	0.002445	1	0
KERA	11081	broad.mit.edu	37	12	91449289	91449289	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:91449289C>T	ENST00000266719.3	-	2	1017	c.770G>A	c.(769-771)aGa>aAa	p.R257K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	257					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATCAAATCCTCTTGATGGGAG	0.398000													19	63					0	0	0.007413	0	0
TMC7	79905	broad.mit.edu	37	16	19047109	19047109	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:19047109G>A	ENST00000421369.3	+	7	1197	c.639G>A	c.(637-639)gcG>gcA	p.A213A	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000304381.5_Silent_p.A323A|TMC7_ENST00000569532.1_Silent_p.A323A	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	323						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCAGCATGGCGGATCTGAAGC	0.542000													24	51					0	0	0.005443	0	0
AHR	196	broad.mit.edu	37	7	17349613	17349613	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:17349613G>C	ENST00000242057.4	+	2	762	c.119G>C	c.(118-120)aGa>aCa	p.R40T		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	40					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAGCGGCATAGAGACCGACTT	0.383000													8	38					0	0	0.004482	0	0
SORCS1	114815	broad.mit.edu	37	10	108389086	108389086	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:108389086C>T	ENST00000263054.6	-	19	2543	c.2536G>A	c.(2536-2538)Gtc>Atc	p.V846I	SORCS1_ENST00000369698.1_Missense_Mutation_p.V381I|SORCS1_ENST00000344440.6_Missense_Mutation_p.V846I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	846	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGAGATTGACGTAAGACACC	0.488000													8	41					0	0	0.004482	0	0
MAGI3	260425	broad.mit.edu	37	1	114215339	114215339	+	Silent	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:114215339A>G	ENST00000369615.1	+	18	3083	c.3021A>G	c.(3019-3021)tcA>tcG	p.S1007S	MAGI3_ENST00000369617.4_Silent_p.S1032S|MAGI3_ENST00000369611.4_Silent_p.S1007S|MAGI3_ENST00000307546.9_Silent_p.S1007S	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1032					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTAATTTCAGTTGTAGGCA	0.448000													4	261					0	0	0.000248	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134661	81134661	+	RNA	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:81134661G>A	ENST00000533478.1	-	0	5501				PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTATAGAGTCGCTGGTAAGCG	0.473000													12	18					0	0	0.001368	0	0
HEATR5A	25938	broad.mit.edu	37	14	31762629	31762629	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:31762629C>T	ENST00000543095.2	-	36	6207	c.6023G>A	c.(6022-6024)cGc>cAc	p.R2008H	RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1927H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1715H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R2002H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	2002							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGCCTCAAGGCGGGCTTTTAG	0.378000													50	145					0	0	0.003610	0	0
LBP	3929	broad.mit.edu	37	20	36992665	36992665	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr20:36992665A>T	ENST00000217407.2	+	7	850	c.689A>T	c.(688-690)tAt>tTt	p.Y230F		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	230					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)				GACATTGATTATAGCTTAGTG	0.557000													16	40					0	0	0.004990	0	0
PHF3	23469	broad.mit.edu	37	6	64422707	64422707	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:64422707G>A	ENST00000262043.3	+	16	5563	c.5223G>A	c.(5221-5223)gaG>gaA	p.E1741E	PHF3_ENST00000393387.1_Silent_p.E1741E			Q92576	PHF3_HUMAN	PHD finger protein 3	1741					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTTACAGGAGGATATTTTAA	0.388000													10	41					0	0	0.006214	0	0
CCDC107	203260	broad.mit.edu	37	9	35658694	35658694	+	Silent	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:35658694C>G	ENST00000421582.2	+	2	291	c.228C>G	c.(226-228)gtC>gtG	p.V76V	CCDC107_ENST00000327351.2_Silent_p.V76V|CCDC107_ENST00000378407.3_Silent_p.V76V|CCDC107_ENST00000426546.2_Silent_p.V76V|CCDC107_ENST00000378406.1_Silent_p.V76V|CCDC107_ENST00000378409.3_Silent_p.V76V			Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	76						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGCGGCCGTCGCGGCTTTTG	0.731000													11	32					0	0	0.001855	0	0
MIR548M	100313772	broad.mit.edu	37	X	94318214	94318214	+	RNA	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:94318214C>G	ENST00000408260.1	-	0	11					NR_031667.1																						tacctttgcaccaacctaata	0.313000													3	16					0	0	0.004672	0	0
RUNDC1	146923	broad.mit.edu	37	17	41142894	41142894	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:41142894C>T	ENST00000361677.1	+	5	1015	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	335										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAGAAAGTCCGGGAGACGGG	0.557000													23	77					0	0	0.003330	0	0
DCC	1630	broad.mit.edu	37	18	50929242	50929242	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:50929242G>A	ENST00000442544.2	+	19	3530	c.2914G>A	c.(2914-2916)Gaa>Aaa	p.E972K	DCC_ENST00000412726.1_Missense_Mutation_p.E800K|DCC_ENST00000581580.1_Missense_Mutation_p.E607K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	972	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCTCCCTTGGAAGCCAATGG	0.532000													5	151					0	0	0.000602	0	0
FBN1	2200	broad.mit.edu	37	15	48760184	48760184	+	Silent	SNP	C	C	G	rs143544916		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:48760184C>G	ENST00000316623.5	-	38	5153	c.4698G>C	c.(4696-4698)ctG>ctC	p.L1566L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1566	TB 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGCTTTACCCAGAGAACAGC	0.453000													17	63					0	0	0.004990	0	0
SLC43A3	29015	broad.mit.edu	37	11	57175311	57175311	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:57175311T>G	ENST00000395123.2	-	14	1734	c.1430A>C	c.(1429-1431)tAt>tCt	p.Y477S	SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y477S|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y477S|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y477S|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y490S	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	477					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCATTCCCGATATACCAGAAA	0.473000													3	69					0	0	0.004672	0	0
NECAB1	64168	broad.mit.edu	37	8	91929771	91929771	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:91929771A>T	ENST00000417640.2	+	6	746	c.409A>T	c.(409-411)Aag>Tag	p.K137*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	137					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATTTTTATTGAAGGAAACCCT	0.393000													16	30					0	0	0.003163	0	0
PRDM9	56979	broad.mit.edu	37	5	23522511	23522511	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:23522511C>A	ENST00000296682.3	+	7	789	c.607C>A	c.(607-609)Ctc>Atc	p.L203I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	203					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGATGATTACCTCTGTAAGTG	0.438000										HNSCC(3;0.000094)			32	110					9.65963e-10	2.51659e-09	0.003271	1	0
NAA25	80018	broad.mit.edu	37	12	112506764	112506764	+	Nonsense_Mutation	SNP	T	T	A	rs149344901		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:112506764T>A	ENST00000261745.4	-	11	1317	c.1069A>T	c.(1069-1071)Aaa>Taa	p.K357*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	357						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCAAACTTTTTAAAATACTGG	0.353000													13	51					0	0	0.001855	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798090	55798090	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:55798090T>G	ENST00000313555.1	+	1	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTTAGCAACTTATCTTTCTT	0.348000													6	43					0	0	0.001168	0	0
KRT14	3861	broad.mit.edu	37	17	39740574	39740574	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:39740574C>A	ENST00000167586.6	-	3	786	c.700G>T	c.(700-702)Gac>Tac	p.D234Y		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	234	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ATCTCCAGGTCAGCTCTGGCC	0.522000													6	172					0.00307968	0.00747275	0.003080	1	0
CDKN2A	1029	broad.mit.edu	37	9	21968242	21968242	+	Splice_Site	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_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.?(6)|p.0(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)		TCGGGGATGTCTGCAGAGGGC	0.542000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	24					0	0	0.007413	0	0
CTC1	80169	broad.mit.edu	37	17	8132760	8132760	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:8132760G>A	ENST00000315684.8	-	19	3023	c.3016C>T	c.(3016-3018)Ccc>Tcc	p.P1006S		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1006					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGGGGCAGGGGAATGCTAAAT	0.527000													10	61					0	0	0.006214	0	0
FBXW7	55294	broad.mit.edu	37	4	153247226	153247226	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:153247226A>G	ENST00000281708.4	-	10	2805	c.1576T>C	c.(1576-1578)Tgg>Cgg	p.W526R	FBXW7_ENST00000296555.5_Missense_Mutation_p.W408R|FBXW7_ENST00000393956.3_Missense_Mutation_p.W350R|FBXW7_ENST00000603841.1_Missense_Mutation_p.W526R|FBXW7_ENST00000603548.1_Missense_Mutation_p.W526R|FBXW7_ENST00000263981.5_Missense_Mutation_p.W446R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	526					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.W526R(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTGGATCCCACACCTTTACC	0.428000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								16	89					0	0	0.008871	0	0
BLM	641	broad.mit.edu	37	15	91346818	91346818	+	Silent	SNP	C	C	T	rs147148171		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:91346818C>T	ENST00000355112.3	+	18	3544	c.3426C>T	c.(3424-3426)gcC>gcT	p.A1142A	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1142					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GACACAATGCCGAAAGACTTT	0.373000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				21	61					0	0	0.001882	0	0
PRMT3	10196	broad.mit.edu	37	11	20409618	20409618	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:20409618G>A	ENST00000331079.6	+	2	299	c.82G>A	c.(82-84)Ggg>Agg	p.G28R	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	28							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTCGGACAGCGGGGACGAGGC	0.647000													5	39					0	0	0.000602	0	0
ERBB4	2066	broad.mit.edu	37	2	212488657	212488657	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:212488657G>A	ENST00000342788.4	-	18	2502	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	ERBB4_ENST00000402597.1_Missense_Mutation_p.T721M|ERBB4_ENST00000436443.1_Missense_Mutation_p.T731M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	731	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTTATAAACCGTTCCAAAAGC	0.363000										TSP Lung(8;0.080)			11	49					0	0	0.008291	0	0
RB1	5925	broad.mit.edu	37	13	49027134	49027134	+	Silent	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr13:49027134A>T	ENST00000267163.4	+	18	1839	c.1701A>T	c.(1699-1701)tcA>tcT	p.S567S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	567	Domain A.|Pocket; binds T and E1A.		S -> L (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATAGGATTCACCTTTATTTG	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			3	32					0	0	0.004672	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84690198	84690198	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:84690198C>G	ENST00000286744.5	+	26	4534	c.4310C>G	c.(4309-4311)tCt>tGt	p.S1437C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1437C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1437	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			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)			TCACATTGTTCTGCCACCTGT	0.517000													14	212					0	0	0.002450	0	0
INTS8	55656	broad.mit.edu	37	8	95862216	95862216	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:95862216G>C	ENST00000523731.1	+	12	1537	c.1404G>C	c.(1402-1404)ttG>ttC	p.L468F	INTS8_ENST00000447247.1_Missense_Mutation_p.L468F	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	468					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCATTACATTGTTGAAAGATG	0.353000													8	76					0	0	0.003080	0	0
WDR17	116966	broad.mit.edu	37	4	177081214	177081214	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:177081214G>A	ENST00000393643.2	+	19	2847	c.2595G>A	c.(2593-2595)gtG>gtA	p.V865V	WDR17_ENST00000507824.2_Silent_p.V872V|WDR17_ENST00000508596.1_Silent_p.V865V|WDR17_ENST00000280190.4_Silent_p.V889V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	889										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTGGTGATGTGAAAAAGCTAG	0.378000													8	32					0	0	0.004482	0	0
ZPBP	11055	broad.mit.edu	37	7	50121443	50121443	+	Silent	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:50121443C>G	ENST00000046087.2	-	3	330	c.261G>C	c.(259-261)acG>acC	p.T87T	ZPBP_ENST00000419417.1_Silent_p.T87T	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	87					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCAGTTGTTGCGTTACACATA	0.343000													23	39					0	0	0.003954	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396213	139396213	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:139396213A>T	ENST00000277541.6	-	30	5700	c.5625T>A	c.(5623-5625)aaT>aaA	p.N1875K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1875					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)		GCCCGCGGACATTGACGTCCA	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	29					0	0	0.003080	0	0
EXPH5	23086	broad.mit.edu	37	11	108380962	108380962	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:108380962G>A	ENST00000265843.4	-	6	5382	c.5272C>T	c.(5272-5274)Ctg>Ttg	p.L1758L	EXPH5_ENST00000443411.1_Silent_p.L1570L|EXPH5_ENST00000525344.1_Silent_p.L1751L|EXPH5_ENST00000428840.1_Silent_p.L1682L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1758					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GCAGGCTCCAGTGGAAAAGGA	0.512000													15	77					0	0	0.003163	0	0
HTR2C	3358	broad.mit.edu	37	X	114141460	114141460	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:114141460C>T	ENST00000276198.1	+	6	1587	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.R287C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	287					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCAGAACGCACGCCGAAGAAA	0.493000													20	141					0	0	0.008871	0	0
DDX20	11218	broad.mit.edu	37	1	112303130	112303130	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:112303130G>A	ENST00000369702.4	+	4	1220	c.600G>A	c.(598-600)ttG>ttA	p.L200L	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	200	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGACTACTTGAACCCAGGCA	0.313000													56	64					0	0	0.003610	0	0
ABCA13	154664	broad.mit.edu	37	7	48390266	48390266	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:48390266C>T	ENST00000435803.1	+	30	10255	c.10231C>T	c.(10231-10233)Cat>Tat	p.H3411Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3411					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATGTTTAACCATGCAGGCGC	0.512000													63	103					0	0	0.003610	0	0
VSIG4	11326	broad.mit.edu	37	X	65253341	65253341	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:65253341C>A	ENST00000455586.2	-	2	513	c.387G>T	c.(385-387)aaG>aaT	p.K129N	VSIG4_ENST00000374737.4_Missense_Mutation_p.K129N|VSIG4_ENST00000412866.2_Missense_Mutation_p.K129N	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	129	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCAGTAATCTTATCTCTCA	0.473000													28	121					1.16021e-09	3.00682e-09	0.007291	1	0
SLX4	84464	broad.mit.edu	37	16	3646278	3646278	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:3646278C>T	ENST00000294008.3	-	8	2440	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	600	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCGAAGGCGACGGGCCCCTGG	0.731000								Direct reversal of damage					3	5					0	0	0.004672	0	0
DTX3	196403	broad.mit.edu	37	12	58000719	58000719	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:58000719G>A	ENST00000548198.1	+	3	1577	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	DTX3_ENST00000337737.3_Missense_Mutation_p.V25M|DTX3_ENST00000551632.1_Missense_Mutation_p.V28M|DTX3_ENST00000548804.1_Missense_Mutation_p.V25M			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	25					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GTCCAAGCCCGTGTGGGACTT	0.597000													99	227					0	0	0.003610	0	0
OTP	23440	broad.mit.edu	37	5	76932942	76932942	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:76932942G>A	ENST00000306422.3	-	2	1289	c.151C>T	c.(151-153)Cca>Tca	p.P51S		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCCTCCACTGGGTCAGAGTTG	0.716000													8	9					0	0	0.003080	0	0
NXF5	55998	broad.mit.edu	37	X	101095787	101095787	+	Silent	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:101095787G>C	ENST00000537026.1	-	9	920	c.561C>G	c.(559-561)gtC>gtG	p.V187V	NXF5_ENST00000361708.2_Silent_p.V187V|NXF5_ENST00000473265.2_Silent_p.V187V	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	187					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAGGGTCTTGACTTTGGGAG	0.478000													5	44					0	0	0.001984	0	0
HMHA1	23526	broad.mit.edu	37	19	1080465	1080465	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:1080465G>A	ENST00000313093.2	+	15	2062	c.1831G>A	c.(1831-1833)Ggg>Agg	p.G611R	HMHA1_ENST00000590577.1_Missense_Mutation_p.G246R|HMHA1_ENST00000536472.1_Missense_Mutation_p.G479R|HMHA1_ENST00000539243.2_Missense_Mutation_p.G627R|HMHA1_ENST00000586866.1_Missense_Mutation_p.G615R|HMHA1_ENST00000543365.1_Missense_Mutation_p.G494R|HMHA1_ENST00000590214.1_Missense_Mutation_p.G638R	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	611					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTCCAGCCGGGCGAGGACA	0.692000													11	57					0	0	0.001855	0	0
CLDN10	9071	broad.mit.edu	37	13	96212417	96212417	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr13:96212417C>G	ENST00000376873.3	+	2	476	c.246C>G	c.(244-246)atC>atG	p.I82M	CLDN10_ENST00000299339.2_Missense_Mutation_p.I84M|CLDN10_ENST00000376855.1_Missense_Mutation_p.I2M	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	84					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.I82I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GACTTATGATCGCTGCTGTCA	0.433000													5	64					0	0	0.001168	0	0
EIF2S1	1965	broad.mit.edu	37	14	67843302	67843302	+	Silent	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:67843302A>C	ENST00000256383.4	+	4	929	c.468A>C	c.(466-468)gcA>gcC	p.A156A	EIF2S1_ENST00000466499.2_Silent_p.A156A	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	156						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TTAAGCATGCAGTCTCGTAAG	0.428000													20	71					0	0	0.008871	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:3188908T>C	ENST00000356443.4	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000261606.7_Silent_p.T203T|MYOM1_ENST00000400569.3_Silent_p.T203T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532000													3	95					0	0	0.000248	0	0
FANCB	2187	broad.mit.edu	37	X	14861944	14861944	+	Silent	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:14861944A>C	ENST00000398334.1	-	10	2592	c.2325T>G	c.(2323-2325)tcT>tcG	p.S775S	FANCB_ENST00000324138.3_Silent_p.S775S	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	775					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAGCTATGGCAGAAGAAAGAG	0.383000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	71					0	0	0.002450	0	0
ZNF423	23090	broad.mit.edu	37	16	49764836	49764836	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:49764836C>T	ENST00000561648.1	-	3	176	c.123G>A	c.(121-123)gcG>gcA	p.A41A	ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000262383.2_Silent_p.A41A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	41					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTCTTCCAGCGCACGGCTGG	0.512000													39	248					0	0	0.002522	0	0
ERBB4	2066	broad.mit.edu	37	2	212568852	212568852	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:212568852G>A	ENST00000342788.4	-	11	1576	c.1266C>T	c.(1264-1266)acC>acT	p.T422T	ERBB4_ENST00000402597.1_Silent_p.T422T|ERBB4_ENST00000436443.1_Silent_p.T422T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	422					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCCACCAATGGTCACCAGGT	0.393000										TSP Lung(8;0.080)			21	80					0	0	0.002780	0	0
FAT4	79633	broad.mit.edu	37	4	126241670	126241670	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:126241670C>T	ENST00000394329.3	+	1	4117	c.4104C>T	c.(4102-4104)aaC>aaT	p.N1368N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1368	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAGCCCAAACACTGGGAGTA	0.378000													21	72					0	0	0.001523	0	0
LANCL3	347404	broad.mit.edu	37	X	37431414	37431414	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:37431414G>A	ENST00000378621.3	+	1	593	c.291G>A	c.(289-291)aaG>aaA	p.K97K	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Silent_p.K97K	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	97							catalytic activity			lung(4)|pancreas(1)	5						GCTCGGCTAAGCGCCTCATCG	0.716000													4	13					0	0	0.000602	0	0
LRFN2	57497	broad.mit.edu	37	6	40399668	40399668	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:40399668G>A	ENST00000338305.6	-	2	1727	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	395						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTCTGAGAGGCGGGACTTGG	0.667000													14	43					0	0	0.002450	0	0
TP53	7157	broad.mit.edu	37	17	7578522	7578522	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:7578522T>A	ENST00000420246.2	-	5	540	c.408A>T	c.(406-408)caA>caT	p.Q136H	TP53_ENST00000455263.2_Missense_Mutation_p.Q136H|TP53_ENST00000413465.2_Missense_Mutation_p.Q136H|TP53_ENST00000359597.4_Missense_Mutation_p.Q136H|TP53_ENST00000269305.4_Missense_Mutation_p.Q136H|TP53_ENST00000445888.2_Missense_Mutation_p.Q136H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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.Q136H(5)|p.Q136Q(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C42fs*9(1)|p.K132_A138delKMFCQLA(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.C3fs*9(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_A138delCQLA(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)		TCTTGGCCAGTTGGCAAAACA	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)			10	44					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444536	25444536	+	RNA	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:25444536G>A	ENST00000424208.1	+	0	1809				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ACACTGAGCTGAGGTGAGCAC	0.587000													20	145					0	0	0.007413	0	0
SELP	6403	broad.mit.edu	37	1	169580906	169580906	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:169580906C>T	ENST00000263686.6	-	7	1008	c.971G>A	c.(970-972)tGt>tAt	p.C324Y	SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C262Y|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C262Y	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	324	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGGTGCTGACACTGCACAGC	0.507000													54	61					0	0	0.003610	0	0
SHC3	53358	broad.mit.edu	37	9	91657049	91657049	+	Missense_Mutation	SNP	T	T	C	rs67020691		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:91657049T>C	ENST00000375835.4	-	10	1558	c.1252A>G	c.(1252-1254)Acg>Gcg	p.T418A	SHC3_ENST00000375831.1_5'UTR|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	418	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GCTTCTCCCGTGGGGGCCACG	0.572000													35	102					0	0	0.004289	0	0
PEX11B	8799	broad.mit.edu	37	1	145522726	145522726	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:145522726T>G	ENST00000369306.3	+	4	736	c.587T>G	c.(586-588)cTc>cGc	p.L196R	PEX11B_ENST00000537888.1_Missense_Mutation_p.L182R	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	196					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAGTCCTGCTCCTGGCTCGA	0.582000													3	92					0	0	0.000248	0	0
TTC39B	158219	broad.mit.edu	37	9	15199906	15199906	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:15199906G>A	ENST00000355694.2	-	8	813	c.579C>T	c.(577-579)aaC>aaT	p.N193N	TTC39B_ENST00000512701.1_Silent_p.N259N|TTC39B_ENST00000507993.1_Silent_p.N94N|TTC39B_ENST00000541445.1_Intron|TTC39B_ENST00000507285.1_Silent_p.N94N|TTC39B_ENST00000380850.4_Silent_p.N259N|TTC39B_ENST00000297615.5_Silent_p.N190N	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	193							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTTGATGAAGTTGATCATAT	0.274000													4	22					0	0	0.000248	0	0
HYDIN	54768	broad.mit.edu	37	16	71163606	71163606	+	Missense_Mutation	SNP	C	C	G	rs929312		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:71163606C>G	ENST00000393567.2	-	9	1314	c.1164G>C	c.(1162-1164)caG>caC	p.Q388H	HYDIN_ENST00000393550.2_Missense_Mutation_p.Q388H|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q388H|HYDIN_ENST00000448089.2_Missense_Mutation_p.Q388H|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q415H|HYDIN_ENST00000288168.10_Missense_Mutation_p.Q405H|HYDIN_ENST00000541601.1_Missense_Mutation_p.Q405H|HYDIN_ENST00000321489.5_Missense_Mutation_p.Q388H	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	388										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGCCTCCTCTGATTCGCAA	0.448000													5	40					0	0	0.001168	0	0
ZBTB10	65986	broad.mit.edu	37	8	81400004	81400004	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:81400004A>G	ENST00000430430.1	+	2	1738	c.959A>G	c.(958-960)gAa>gGa	p.E320G	ZBTB10_ENST00000426744.2_Missense_Mutation_p.E320G|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Missense_Mutation_p.E320G	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	320					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AAACTCCACGAAGCCAACGCC	0.537000													6	102					0	0	0.001984	0	0
MSX1	4487	broad.mit.edu	37	4	4864759	4864759	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:4864759G>T	ENST00000382723.4	+	2	1035	c.801G>T	c.(799-801)gcG>gcT	p.A267A		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	261					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGGCCGCGGCGGGTGCCTCGC	0.706000													6	18					5.9392e-07	1.4848e-06	0.001168	1	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													5	69					0	0	0.001168	0	0
KLHL14	57565	broad.mit.edu	37	18	30350279	30350279	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:30350279C>T	ENST00000359358.4	-	2	714	c.276G>A	c.(274-276)ccG>ccA	p.P92P	KLHL14_ENST00000358095.4_Silent_p.P92P|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	92	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						gctgctgtgacggctgctgct	0.726000													8	27					0	0	0.003080	0	0
ACSM5	54988	broad.mit.edu	37	16	20439133	20439133	+	Silent	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:20439133C>A	ENST00000331849.4	+	7	1092	c.945C>A	c.(943-945)acC>acA	p.T315T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	315					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCCCGATAACCACCCTCTGCT	0.478000													58	152					6.12789e-21	1.64854e-20	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179472661	179472661	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:179472661C>T	ENST00000589042.1	-	276	53077	c.52853G>A	c.(52852-52854)cGc>cAc	p.R17618H	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R15977H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8745H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8553H|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15050H|TTN_ENST00000359218.5_Missense_Mutation_p.R8678H|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15977	Fibronectin type-III 27.						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)			CTCTGTGCAGCGTGACCATTC	0.478000													34	103					0	0	0.003755	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													4	70					0	0	0.001168	0	0
TAF4B	6875	broad.mit.edu	37	18	23845146	23845146	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:23845146T>A	ENST00000269142.5	+	2	1354	c.356T>A	c.(355-357)aTt>aAt	p.I119N	TAF4B_ENST00000400466.2_Missense_Mutation_p.I119N|TAF4B_ENST00000578121.1_Missense_Mutation_p.I119N	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	119					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACCGTTTTGATTAAAAGTAAC	0.393000													15	116					0	0	0.004990	0	0
PGRMC1	10857	broad.mit.edu	37	X	118370576	118370576	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:118370576G>A	ENST00000217971.7	+	1	361	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	PGRMC1_ENST00000535419.1_Missense_Mutation_p.V84I	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	84	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CTTCGACGGCGTCCAGGACCC	0.721000													4	30					0	0	0.000248	0	0
KANSL1	284058	broad.mit.edu	37	17	44110824	44110824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:44110824C>T	ENST00000262419.6	-	12	3139	c.2669G>A	c.(2668-2670)tGg>tAg	p.W890*	KANSL1_ENST00000572904.1_Nonsense_Mutation_p.W890*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.W890*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.W890*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.W184*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.W826*	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	890						MLL1 complex	protein binding										AACCTCCCGCCAGCTGCAAAA	0.498000													4	36					0	0	0.001168	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999224	143999224	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:143999224C>T	ENST00000323110.2	-	1	35	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	11					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGGGCGCTGCCACGCACACCT	0.617000									Familial Hyperaldosteronism type I				41	180					0	0	0.002222	0	0
GFPT2	9945	broad.mit.edu	37	5	179740899	179740899	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:179740899C>T	ENST00000253778.8	-	14	1508	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	447	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTGTTGGTGACGCCCACGGTG	0.706000													4	14					0	0	0.000248	0	0
ZIM3	114026	broad.mit.edu	37	19	57648260	57648260	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:57648260C>T	ENST00000269834.1	-	4	607	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACTTCCCAGCACTTCCTCTT	0.517000													13	81					0	0	0.002450	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255111	15255111	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:15255111C>T	ENST00000378116.4	-	8	2482	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	826						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCAGCTGGCCACCACTTCTC	0.647000													14	68					0	0	0.001855	0	0
CLASRP	11129	broad.mit.edu	37	19	45556084	45556084	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:45556084A>G	ENST00000544944.2	+	3	925	c.233A>G	c.(232-234)gAc>gGc	p.D78G	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Missense_Mutation_p.D78G			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	78					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AACATGATTGACCGATTCGAT	0.602000													17	43					0	0	0.007413	0	0
C10orf12	26148	broad.mit.edu	37	10	98744511	98744511	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:98744511C>T	ENST00000286067.2	+	1	3471	c.3364C>T	c.(3364-3366)Cct>Tct	p.P1122S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1122										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CACCAAAACCCCTGCTGCCAA	0.517000													10	62					0	0	0.006214	0	0
SYTL1	84958	broad.mit.edu	37	1	27676942	27676942	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:27676942G>A	ENST00000543823.1	+	9	1433	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	SYTL1_ENST00000318074.5_Missense_Mutation_p.R312Q|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	324	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	p.R312Q(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGAAGAAACGGAATCTGAAT	0.602000													42	56					0	0	0.003610	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675072	81675072	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:81675072A>G	ENST00000550584.2	-	26	3471	c.3176T>C	c.(3175-3177)cTc>cCc	p.L1059P	PPFIA2_ENST00000407050.4_Missense_Mutation_p.L958P|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000443686.3_Missense_Mutation_p.L954P|PPFIA2_ENST00000549396.1_Missense_Mutation_p.L1059P|PPFIA2_ENST00000333447.7_Missense_Mutation_p.L1044P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.L1038P|PPFIA2_ENST00000541570.2_Missense_Mutation_p.L595P|PPFIA2_ENST00000541017.1_Missense_Mutation_p.L245P|PPFIA2_ENST00000548586.1_Missense_Mutation_p.L1053P|PPFIA2_ENST00000550359.2_Missense_Mutation_p.L906P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.L1044P	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	958										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGGACACGGAGATCTTTTTT	0.343000													4	26					0	0	0.000248	0	0
ACO1	48	broad.mit.edu	37	9	32407405	32407405	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:32407405C>T	ENST00000379923.1	+	4	450	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000309951.5_Missense_Mutation_p.R82C	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	82					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TAAGCCTGCTCGTGTCATCCT	0.388000													9	44					0	0	0.001855	0	0
MADD	8567	broad.mit.edu	37	11	47298327	47298327	+	Silent	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:47298327G>C	ENST00000342922.4	+	5	1365	c.1008G>C	c.(1006-1008)gtG>gtC	p.V336V	MADD_ENST00000402799.1_Silent_p.V336V|MADD_ENST00000407859.3_Silent_p.V336V|MADD_ENST00000349238.3_Silent_p.V336V|MADD_ENST00000406482.1_Silent_p.V336V|MADD_ENST00000311027.5_Silent_p.V336V|MADD_ENST00000402192.2_Silent_p.V336V|MADD_ENST00000395344.3_Silent_p.V336V|MADD_ENST00000395336.3_Silent_p.V336V|MADD_ENST00000489415.1_3'UTR	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	336	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCATGTCTGTGATGGCATTCG	0.483000													12	87					0	0	0.001855	0	0
NCOR2	9612	broad.mit.edu	37	12	124862849	124862849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:124862849C>A	ENST00000356219.3	-	19	2256	c.2101G>T	c.(2101-2103)Gag>Tag	p.E701*	NCOR2_ENST00000429285.2_Nonsense_Mutation_p.E700*|NCOR2_ENST00000405201.1_Nonsense_Mutation_p.E701*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.E700*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.E271*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.E701*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	701					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTCATCCTCCACCACGGGC	0.667000													14	53					4.3838e-07	1.10151e-06	0.001855	1	0
MACC1	346389	broad.mit.edu	37	7	20199733	20199733	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:20199733A>G	ENST00000400331.5	-	5	559	c.251T>C	c.(250-252)cTa>cCa	p.L84P	MACC1_ENST00000332878.4_Missense_Mutation_p.L84P|MACC1_ENST00000589011.1_Missense_Mutation_p.L84P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	84					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTTATTTCTTAGTTGAGTTAT	0.348000													16	37					0	0	0.004007	0	0
RPL10L	140801	broad.mit.edu	37	14	47120482	47120482	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:47120482C>T	ENST00000298283.3	-	1	546	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	153					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTGGCCCTGCGCAAGGCTTC	0.517000													12	76					0	0	0.001368	0	0
SPAG16	79582	broad.mit.edu	37	2	214149438	214149438	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:214149438T>G	ENST00000413312.1	+	1	299	c.53T>G	c.(52-54)cTt>cGt	p.L18R	SPAG16_ENST00000331683.5_Intron|SPAG16_ENST00000447990.1_Intron|SPAG16_ENST00000272898.7_Intron|SPAG16_ENST00000432529.2_Intron			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	49					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTTTTGAGCCTTGGGGCCACT	0.617000													2	0					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9085508	9085508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:9085508G>A	ENST00000397910.4	-	1	6510	c.6307C>T	c.(6307-6309)Caa>Taa	p.Q2103*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2103	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATTTCTTTGCTTAGCAGCA	0.488000													24	218					0	0	0.002299	0	0
PIPSL	266971	broad.mit.edu	37	10	95720289	95720289	+	RNA	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:95720289T>A	ENST00000480546.1	-	0	1008					NR_002319.2																						TGTGTTTCGCTGCTTAAGGGC	0.493000													8	46					0	0	0.006214	0	0
IL17REL	400935	broad.mit.edu	37	22	50439548	50439548	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:50439548C>T	ENST00000389983.2	-	4	336	c.72G>A	c.(70-72)gcG>gcA	p.A24A	IL17REL_ENST00000341280.5_Silent_p.A24A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	24										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGAGCATCGCGCAGCCGT	0.662000													6	11					0	0	0.001984	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	44					0	0	0.004672	0	0
PTPRF	5792	broad.mit.edu	37	1	44085815	44085815	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:44085815G>A	ENST00000359947.4	+	30	5501	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	PTPRF_ENST00000438120.1_Missense_Mutation_p.E1712K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1712K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1721K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1080K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1721	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E1711Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAGAGCACCGAGGACTTCTG	0.592000													70	60					0	0	0.003610	0	0
PSD4	23550	broad.mit.edu	37	2	113949982	113949982	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:113949982T>A	ENST00000245796.6	+	6	1849	c.1654T>A	c.(1654-1656)Tct>Act	p.S552T	PSD4_ENST00000441564.2_Missense_Mutation_p.S524T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	552	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCGATGAACTCTTCTTGGCT	0.547000													84	146					0	0	0.003610	0	0
PRH2	5555	broad.mit.edu	37	12	11082884	11082884	+	Silent	SNP	C	C	T	rs1130408		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:11082884C>T	ENST00000396400.3	+	2	119	c.81C>T	c.(79-81)gaC>gaT	p.D27D	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Silent_p.D27D	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	27	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space	protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						GCCAAGAAGACGTTCCCTTGG	0.388000													13	76					0	0	0.001855	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425660	71425660	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:71425660G>C	ENST00000373657.1	-	3	3190	c.2588C>G	c.(2587-2589)cCt>cGt	p.P863R	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P986R			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	986					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTGGAATTAGGTGCAGAGCC	0.393000													30	59					0	0	0.002096	0	0
MS4A2	2206	broad.mit.edu	37	11	59863040	59863040	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:59863040G>A	ENST00000278888.3	+	7	748	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	216					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GGTTCCAGAGGATCGTGTTTA	0.388000													6	31					0	0	0.001168	0	0
PRKD1	5587	broad.mit.edu	37	14	30046528	30046528	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:30046528G>T	ENST00000331968.5	-	18	2884	c.2655C>A	c.(2653-2655)atC>atA	p.I885I	PRKD1_ENST00000415220.2_Silent_p.I893I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	885					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CACTTGGATTGATCAGGTGTG	0.517000													36	104					1.36161e-19	3.64324e-19	0.004289	1	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	56					0	0	0.004672	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701285	195701285	+	RNA	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:195701285G>T	ENST00000427841.1	-	0	1539					NR_003264.2																						GCACGACTCTGCGATGCTCAG	0.537000													11	46					0.000978159	0.0024089	0.000978	1	0
SPPL2A	84888	broad.mit.edu	37	15	51031995	51031995	+	Silent	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:51031995A>G	ENST00000261854.5	-	6	889	c.615T>C	c.(613-615)gaT>gaC	p.D205D		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	205						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCATTTCTCTATCTTCAGTTG	0.318000													14	54					0	0	0.004007	0	0
OR5H14	403273	broad.mit.edu	37	3	97868899	97868899	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:97868899A>C	ENST00000437310.1	+	1	730	c.670A>C	c.(670-672)Aca>Cca	p.T224P		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTCCTCTATACAATCTTGAA	0.358000													3	38					0	0	0.000248	0	0
POTEG	404785	broad.mit.edu	37	14	19566010	19566010	+	Splice_Site	SNP	A	A	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:19566010A>T	ENST00000409832.3	+	6	1107		c.e6-1		CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTTATACATAGAATTTGCCA	0.259000													7	78					0	0	0.004482	0	0
FAT1	2195	broad.mit.edu	37	4	187628208	187628208	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:187628208G>C	ENST00000441802.2	-	2	2983	c.2774C>G	c.(2773-2775)cCt>cGt	p.P925R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	925	Cadherin 7.				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						AATAAATGTAGGTGGGTTGTC	0.458000										HNSCC(5;0.00058)			38	249					0	0	0.006999	0	0
ATP12A	479	broad.mit.edu	37	13	25275010	25275010	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr13:25275010C>T	ENST00000218548.6	+	13	2182	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	ATP12A_ENST00000381946.3_Missense_Mutation_p.R611W	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	611					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGATCCCCCTCGGTCCACCGT	0.483000													10	48					0	0	0.008291	0	0
ASB18	401036	broad.mit.edu	37	2	237172797	237172797	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:237172797G>A	ENST00000409749.3	-	1	191	c.192C>T	c.(190-192)acC>acT	p.T64T	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	64					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GCAGCATGCCGGTGGGCAGCT	0.527000													4	33					0	0	0.000602	0	0
METTL13	51603	broad.mit.edu	37	1	171753042	171753042	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:171753042A>C	ENST00000361735.3	+	2	582	c.316A>C	c.(316-318)Acg>Ccg	p.T106P	METTL13_ENST00000367737.5_Missense_Mutation_p.T106P|METTL13_ENST00000458517.1_Missense_Mutation_p.T105P|METTL13_ENST00000362019.3_Missense_Mutation_p.T20P	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	106							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GATGGACATGACGCAGATGGA	0.502000													42	32					0	0	0.007835	0	0
NTNG1	22854	broad.mit.edu	37	1	107691215	107691215	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:107691215G>A	ENST00000370067.1	+	0	627				NTNG1_ENST00000370068.1_De_novo_Start_InFrame|NTNG1_ENST00000370072.3_De_novo_Start_InFrame|NTNG1_ENST00000370073.2_De_novo_Start_InFrame|NTNG1_ENST00000370074.4_De_novo_Start_InFrame|NTNG1_ENST00000542803.1_De_novo_Start_InFrame|NTNG1_ENST00000370070.2_De_novo_Start_InFrame|NTNG1_ENST00000370061.3_De_novo_Start_InFrame|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_De_novo_Start_InFrame			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGAATTTAGAGATGTATTTGT	0.383000													41	45					0	0	0.007835	0	0
SOCS4	122809	broad.mit.edu	37	14	55509833	55509833	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:55509833A>G	ENST00000395472.2	+	2	406	c.74A>G	c.(73-75)gAc>gGc	p.D25G	SOCS4_ENST00000555846.1_Missense_Mutation_p.D25G|SOCS4_ENST00000339298.2_Missense_Mutation_p.D25G	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	25					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AGAAGTGCCGACAGAAAAGAC	0.363000													13	57					0	0	0.001855	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989074	64989074	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:64989074C>T	ENST00000358738.3	+	2	1243	c.852C>T	c.(850-852)taC>taT	p.Y284Y	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Silent_p.Y284Y|ZBTB1_ENST00000394712.2_Silent_p.Y284Y	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CGGACAAATACAGAGGAGACA	0.398000													11	44					0	0	0.000978	0	0
C10orf12	26148	broad.mit.edu	37	10	98743187	98743187	+	Silent	SNP	T	T	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:98743187T>A	ENST00000286067.2	+	1	2147	c.2040T>A	c.(2038-2040)gcT>gcA	p.A680A		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	680										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGGAGGAGGCTGTGAATGAGG	0.498000													12	58					0	0	0.001368	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577000													5	201					0	0	0.001168	0	0
SV2B	9899	broad.mit.edu	37	15	91769696	91769696	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:91769696C>T	ENST00000394232.1	+	2	673	c.203C>T	c.(202-204)cCc>cTc	p.P68L	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.P68L|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	68					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AAGATGGCGCCCTCCAGAATG	0.577000													18	44					0	0	0.004990	0	0
HGS	9146	broad.mit.edu	37	17	79658578	79658578	+	Silent	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:79658578G>A	ENST00000329138.4	+	8	774	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	213					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCGTGTGTGAGCCCTGCTACG	0.602000													34	91					0	0	0.004878	0	0
DOK6	220164	broad.mit.edu	37	18	67425109	67425109	+	Splice_Site	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:67425109G>T	ENST00000382713.5	+	7	1046	c.856_splice	c.e7+1	p.G286_splice		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	286							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGTTTGCAAGGCAAGTCACT	0.438000													5	46					0.00116845	0.00286327	0.001168	1	0
FAM160B1	57700	broad.mit.edu	37	10	116593011	116593011	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:116593011C>T	ENST00000369248.4	+	3	479	c.144C>T	c.(142-144)acC>acT	p.T48T	FAM160B1_ENST00000369250.3_Silent_p.T48T|FAM160B1_ENST00000369246.1_Silent_p.T48T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	48										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCCCAGTGACCGATACAAATA	0.338000													5	45					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179639678	179639678	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:179639678C>T	ENST00000589042.1	-	29	6984	c.6760G>A	c.(6760-6762)Gtc>Atc	p.V2254I	TTN_ENST00000360870.5_Missense_Mutation_p.V2254I|TTN_ENST00000591111.1_Missense_Mutation_p.V2254I|TTN_ENST00000342175.6_Missense_Mutation_p.V2208I|TTN_ENST00000460472.2_Missense_Mutation_p.V2208I|TTN_ENST00000342992.6_Missense_Mutation_p.V2254I|TTN_ENST00000359218.5_Missense_Mutation_p.V2208I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1977	Ig-like 11.						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)			GTCGTTTTGACATTTTCATCT	0.393000													9	38					0	0	0.006214	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54110137	54110137	+	Silent	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:54110137C>T	ENST00000548263.1	-	8	960	c.912G>A	c.(910-912)aaG>aaA	p.K304K	CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000262059.4_Silent_p.K304K|CALCOCO1_ENST00000550804.1_Silent_p.K304K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	304					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGCCAGCTCTTCGCCTCCT	0.562000													26	68					0	0	0.007291	0	0
ZNF14	7561	broad.mit.edu	37	19	19822565	19822565	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:19822565C>T	ENST00000344099.3	-	4	1663	c.1525G>A	c.(1525-1527)Ggt>Agt	p.G509S		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGGTTTTACCGCATAGTTTA	0.393000													18	122					0	0	0.004990	0	0
AIMP1	9255	broad.mit.edu	37	4	107252981	107252981	+	Missense_Mutation	SNP	G	G	A	rs148281523		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:107252981G>A	ENST00000394701.4	+	5	657	c.616G>A	c.(616-618)Gga>Aga	p.G206R	AIMP1_ENST00000358008.3_Missense_Mutation_p.G182R|AIMP1_ENST00000442366.1_Missense_Mutation_p.G182R	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	182	tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						AGTAGATGTCGGAGAAATAGC	0.428000													27	189					0	0	0.007291	0	0
ZNF101	94039	broad.mit.edu	37	19	19790618	19790618	+	Silent	SNP	A	A	C			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:19790618A>C	ENST00000592502.1	+	4	930	c.820A>C	c.(820-822)Aga>Cga	p.R274R	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.R154R			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ACATGAAATCAGATCTCACGC	0.423000													4	35					0	0	0.000248	0	0
CASP8	841	broad.mit.edu	37	2	202131228	202131228	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:202131228C>G	ENST00000358485.4	+	2	392	c.196C>G	c.(196-198)Ctt>Gtt	p.L66V	CASP8_ENST00000432109.2_Missense_Mutation_p.L7V|CASP8_ENST00000392259.2_Missense_Mutation_p.L7V|CASP8_ENST00000323492.7_Missense_Mutation_p.L7V|CASP8_ENST00000264275.5_Missense_Mutation_p.L7V|CASP8_ENST00000264274.9_Missense_Mutation_p.L7V|CASP8_ENST00000392266.3_Missense_Mutation_p.L7V|CASP8_ENST00000392258.3_Missense_Mutation_p.L7V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	7	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAGCAGAAATCTTTATGATAT	0.408000										HNSCC(4;0.00038)			16	43					0	0	0.006122	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410852	105410852	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:105410852G>A	ENST00000333244.5	-	7	11055	c.10936C>T	c.(10936-10938)Ccg>Tcg	p.P3646S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3646						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGAATGACGGCATCTTGAAT	0.592000													6	375					0	0	0.001168	0	0
CBX7	23492	broad.mit.edu	37	22	39529912	39529912	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:39529912C>A	ENST00000216133.5	-	6	945	c.740G>T	c.(739-741)cGc>cTc	p.R247L	CBX7_ENST00000401405.3_Missense_Mutation_p.R154L|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	247					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CTTCCCACTGCGGTCTCGGAA	0.577000													12	74					9.31168e-06	2.31622e-05	0.001855	1	0
ZMYND15	84225	broad.mit.edu	37	17	4647997	4647997	+	Silent	SNP	C	C	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:4647997C>G	ENST00000433935.1	+	11	1818	c.1761C>G	c.(1759-1761)ggC>ggG	p.G587G	ZMYND15_ENST00000269289.6_Silent_p.G548G|ZMYND15_ENST00000592813.1_Silent_p.G548G|ZMYND15_ENST00000573751.2_Silent_p.G587G	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	548							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGAAAGGGGGCCGCAGGGACC	0.622000													7	69					0	0	0.001984	0	0
LMF2	91289	broad.mit.edu	37	22	50943500	50943500	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:50943500A>G	ENST00000216080.5	-	9	1333	c.1165T>C	c.(1165-1167)Ttc>Ctc	p.F389L	LMF2_ENST00000474879.2_Missense_Mutation_p.F414L|LMF2_ENST00000380796.3_Intron			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	414						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTAATCAGGAACAAGGCCACG	0.647000													12	41					0	0	0.000978	0	0
RDH8	50700	broad.mit.edu	37	19	10129435	10129435	+	Silent	SNP	G	G	T			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:10129435G>T	ENST00000591589.1	+	3	540	c.351G>T	c.(349-351)ggG>ggT	p.G117G	RDH8_ENST00000171214.1_Silent_p.G97G			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	97					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCCTGGTGGGGCCCCTGGAGG	0.507000													23	138					1.10513e-12	2.90979e-12	0.002299	1	0
ZNF654	55279	broad.mit.edu	37	3	88188748	88188750	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:88188748_88188750delTAC	ENST00000309495.5	+	1	495_497	c.288_290delTAC	c.(286-291)ctt>ct	p.LT96del	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGGAGACACTTACTGCTTCTAGT	0.355													12	32	---	---	---	---					
DOK7	285489	broad.mit.edu	37	4	3494760	3494783	+	In_Frame_Del	DEL	CAGCAGCCTCTCGTCCTACGCGGG	CAGCAGCCTCTCGTCCTACGCGGG	-			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:3494760_3494783delCAGCAGCCTCTCGTCCTACGCGGG	ENST00000340083.5	+	7	1112_1135	c.1047_1070delCAGCAGCCTCTCGTCCTACGCGGG	c.(1045-1071)tcc>tc	p.SSSLSSYAG349del	DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_In_Frame_Del_p.SSSLSSYAG349del|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	349	Ser-rich.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	p.A356V(1)		kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCTTACTCCAGCAGCCTCTCGTCCTACGCGGGCAGCAGCCTG	0.714													3	5	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153259045	153259046	+	Frame_Shift_Ins	INS	-	-	TGAGT			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:153259045_153259046insTGAGT	ENST00000281708.4	-	5	1998_1999	c.769_770insACTCA	c.(769-771)tgafs	p.*257fs	FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.*177fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.*139fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.*81fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.*257fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.*257fs|RP11-461L13.2_ENST00000605147.1_RNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	257					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACAACTATCAATGAGTTCATCT	0.356			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								14	38	---	---	---	---					
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													8	168	---	---	---	---					
ITGB3	3690	broad.mit.edu	37	17	45361893	45361893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:45361893delC	ENST00000559488.1	+	4	462	c.446delC	c.(445-447)tcfs	p.S149fs	ITGB3_ENST00000435993.2_Frame_Shift_Del_p.S102fs|ITGB3_ENST00000560629.1_Frame_Shift_Del_p.L137fs|ITGB3_ENST00000571680.1_Frame_Shift_Del_p.S149fs	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	149	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTGTCTTACTCCATGAAGGAT	0.512													29	62	---	---	---	---					
CRYBB2P1	1416	broad.mit.edu	37	22	25855683	25855684	+	RNA	DEL	GT	GT	-	rs61433517		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:25855683_25855684delGT	ENST00000354451.2	+	0	366																											CTGGCAGCTGgtgtgtgtgtgt	0.525													2	4	---	---	---	---					
