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
PI4KAP2	0	broad.mit.edu	37	22	21829555	21829555	+	RNA	SNP	T	T	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr22:21829555T>G	ENST00000450651.1	-	0	1783																		p.I530L(4)		endometrium(3)|urinary_tract(1)	4						TCCAACATGATAGTGACCAGG	0.607000													5	77					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39950371	39950371	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:39950371G>A	ENST00000564288.1	+	100	23157	c.22380G>A	c.(22378-22380)ccG>ccA	p.P7460P	MACF1_ENST00000567887.1_Silent_p.P7497P|MACF1_ENST00000539005.1_Silent_p.P5205P|MACF1_ENST00000545844.1_Silent_p.P5335P|MACF1_ENST00000361689.2_Silent_p.P5335P|MACF1_ENST00000289893.4_Silent_p.P5843P|MACF1_ENST00000372915.3_Silent_p.P7293P|MACF1_ENST00000317713.7_Silent_p.P5335P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7293					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTCTTCCCCGGCCTCCACAG	0.488000													106	561					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10106107	10106107	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:10106107C>T	ENST00000287647.3	+	22	2108	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	FANCD2_ENST00000419585.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383807.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383806.1_Missense_Mutation_p.P672L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	672					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGTGTTGTTCCGGAAGGGTAG	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				39	730					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185033945	185033945	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:185033945G>A	ENST00000296741.2	-	6	1014	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	291					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTCCACTGTGCTCAGTTTGT	0.398000													107	444					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505814	195505814	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:195505814C>T	ENST00000463781.3	-	2	13096	c.12637G>A	c.(12637-12639)Gac>Aac	p.D4213N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGTCGGTGACAGGA	0.597000													3	46					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44559738	44559738	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr22:44559738G>T	ENST00000338758.6	+	12	1009	c.945_splice	c.e12-1	p.V316_splice	PARVB_ENST00000404989.1_Splice_Site_p.V279_splice|PARVB_ENST00000406477.3_Splice_Site_p.V349_splice	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	316	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TCCTTGGCAGGTCCACAATGT	0.622000													8	338					0.00621372	0.00627289	1	1	0
GLB1L2	89944	broad.mit.edu	37	11	134244879	134244879	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:134244879A>C	ENST00000535456.2	+	19	2026	c.1838A>C	c.(1837-1839)gAg>gCg	p.E613A	GLB1L2_ENST00000339772.7_Missense_Mutation_p.E613A|GLB1L2_ENST00000389881.3_Missense_Mutation_p.E613A|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	613					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ATCGTTTTTGAGGAGACGATG	0.627000													21	103					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487356	248487356	+	Missense_Mutation	SNP	C	C	T	rs145948434		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:248487356C>T	ENST00000317965.2	-	1	543	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172L(1)|p.R172Q(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTATTTCCCGAGACCCACA	0.433000													313	1485					0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127316820	127316820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:127316820G>A	ENST00000487099.2	-	3	329	c.172C>T	c.(172-174)Cga>Tga	p.R58*	NR6A1_ENST00000373584.3_Nonsense_Mutation_p.R54*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R58*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R54*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	58					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AGACAGGTTCGTTGTTCAGCC	0.463000													82	357					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17026279	17026279	+	Splice_Site	SNP	C	C	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:17026279C>A	ENST00000377833.4	-	30	4416		c.e30-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCATAGATCTAACATGGGA	0.473000													48	232					2.40228e-13	2.59838e-13	1	1	0
RP11-85K15.2	0	broad.mit.edu	37	14	35409527	35409527	+	RNA	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:35409527C>T	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							TGGCAGCCAACAGAGCATGGG	0.527000													43	172					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16269204	16269204	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:16269204C>A	ENST00000375733.2	-	14	2096	c.1858G>T	c.(1858-1860)Ggg>Tgg	p.G620W	ZBTB17_ENST00000537142.1_Missense_Mutation_p.G538W|ZBTB17_ENST00000375743.4_Missense_Mutation_p.G620W			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	620					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCACGCCCACACTTATCA	0.612000													25	213					2.41591e-17	2.66757e-17	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56585592	56585592	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:56585592G>A	ENST00000336078.4	+	4	849	c.73G>A	c.(73-75)Gat>Aat	p.D25N	ZNF532_ENST00000591230.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D25N|ZNF532_ENST00000589288.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D25N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGATATGGTCGATCCTAAAGC	0.468000													70	282					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144992083	144992083	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:144992083G>A	ENST00000322810.4	-	32	12486	c.12317C>T	c.(12316-12318)gCg>gTg	p.A4106V	PLEC_ENST00000345136.3_Missense_Mutation_p.A3969V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3937V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3969V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3973V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3996V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3947V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3955V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3992V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4106	Globular 2.				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						GGCCGCCTGCGCCTCCAGGAG	0.632000													27	163					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36859706	36859706	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36859706C>T	ENST00000279024.4	-	5	2040	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	590										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAGCAGGGGCCGCCCGGCCCT	0.637000													23	85					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063129	180063129	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:180063129G>A	ENST00000367607.3	+	34	8307	c.7889G>A	c.(7888-7890)aGt>aAt	p.S2630N	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2630						centrosome|nucleus|spindle		p.S2630I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTAATAGAAGTAGAAGCCTT	0.388000													8	215					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207647654	207647654	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207647654T>A	ENST00000367057.3	+	13	2498	c.2309T>A	c.(2308-2310)aTt>aAt	p.I770N	CR2_ENST00000458541.2_Missense_Mutation_p.I684N|CR2_ENST00000367059.3_Missense_Mutation_p.I711N|CR2_ENST00000367058.3_Missense_Mutation_p.I711N	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	840	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCAAAAAGATTCCACTTTGT	0.388000													18	520					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86372901	86372901	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:86372901C>T	ENST00000370571.2	-	28	3120	c.2754G>A	c.(2752-2754)ggG>ggA	p.G918G	COL24A1_ENST00000436319.1_Silent_p.G918G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	918	Collagen-like 7.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GACCTTGACTCCCAGGTGGTC	0.348000													69	451					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													17	111					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27346443	27346443	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:27346443G>A	ENST00000429845.2	-	13	1185	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	NEK10_ENST00000341435.5_Missense_Mutation_p.R275C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	275							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAAGTAGGCGCAGCAACTCC	0.502000													6	136					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497867	73497867	+	Silent	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:73497867G>T	ENST00000321617.3	-	18	3874	c.3288C>A	c.(3286-3288)ccC>ccA	p.P1096P	CASKIN2_ENST00000433559.2_Silent_p.P1014P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1096	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACCTGCTCCGGGCACCTTGA	0.637000													15	703					2.35188e-11	2.51818e-11	1	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1																						CAGACTAAAGGCAAACAAGGA	0.498000													6	188					0	0	1	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911079	62911079	+	Missense_Mutation	SNP	G	G	C	rs1939748	by1000genomes	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:62911079G>C	ENST00000417740.1	-	1	614	c.173C>G	c.(172-174)aCt>aGt	p.T58S	SLC22A24_ENST00000326192.5_Missense_Mutation_p.T58S|SLC22A10_ENST00000525620.1_Intron	NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						GTCAGACACAGTGTCATTGTC	0.517000													6	180					0	0	1	0	0
RPLP0P2	0	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													7	213					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947235	37947235	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:37947235A>T	ENST00000373087.6	+	4	733	c.617A>T	c.(616-618)aAg>aTg	p.K206M		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	206					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	p.K206R(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGAAGAAGAAGATCCTGGTG	0.607000													72	397					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470187	10470187	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:10470187C>G	ENST00000382483.3	-	4	1644	c.1421G>C	c.(1420-1422)aGg>aCg	p.R474T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	474					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCGGGGTCCTGGGGCAGCA	0.701000													67	324					0	0	1	0	0
RP11-435B5.4	0	broad.mit.edu	37	1	143403563	143403563	+	RNA	SNP	C	C	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453000													5	115					0.000219431	0.000228037	1	1	0
SON	6651	broad.mit.edu	37	21	34925124	34925124	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:34925124C>T	ENST00000356577.4	+	3	4062	c.3587C>T	c.(3586-3588)cCt>cTt	p.P1196L	SON_ENST00000290239.6_Missense_Mutation_p.P1196L|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.P1196L|SON_ENST00000381679.4_Missense_Mutation_p.P1196L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1196					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATACTTGGCCTACAGAGGTG	0.527000													157	775					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661558	90661558	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:90661558C>T	ENST00000257749.4	-	7	974	c.267G>A	c.(265-267)ccG>ccA	p.P89P	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.P89P|BACH2_ENST00000537989.1_Silent_p.P89P	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	89	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGTAACAGCGGCCCAAAGC	0.527000													8	280					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112046027	112046027	+	Translation_Start_Site	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:112046027G>A	ENST00000241356.4	-	0	355				ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_De_novo_Start_OutOfFrame	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor						activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGCAAGATCCGTCTGTAGGGC	0.542000													11	50					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3607671	3607671	+	RNA	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:3607671C>T	ENST00000301749.7	-	0	2427				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTGGTTCTCCGCCAAGCTGC	0.527000													20	110					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	122999745	122999745	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:122999745C>T	ENST00000331738.7	-	6	777	c.632G>A	c.(631-633)aGa>aAa	p.R211K	RSRC2_ENST00000354654.2_Missense_Mutation_p.R163K	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	211										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GCTAAATCTTCTCGGCTTTTC	0.378000													70	333					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817325	45817325	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:45817325C>T	ENST00000358525.4	-	4	625	c.510G>A	c.(508-510)ccG>ccA	p.P170P	SLC6A20_ENST00000353278.4_Silent_p.P170P|SLC6A20_ENST00000456124.2_Silent_p.P170P	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	170					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGCACAGCGCCGGCTCCCACT	0.622000													107	448					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583694	179583694	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:179583694G>T	ENST00000589042.1	-	84	24457	c.24233C>A	c.(24232-24234)cCa>cAa	p.P8078Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6834Q|TTN_ENST00000591111.1_Missense_Mutation_p.P7761Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7761	Ig-like 63.						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)			TTCAAAAGATGGTGGTTCTAG	0.443000													9	82					0.00621372	0.00627289	1	1	0
POLRMT	5442	broad.mit.edu	37	19	620015	620015	+	Silent	SNP	G	G	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:620015G>C	ENST00000588649.2	-	12	2913	c.2829C>G	c.(2827-2829)tcC>tcG	p.S943S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	943	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCAGGTTGACGGAGGCGGCGC	0.697000													4	53					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52924608	52924608	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:52924608A>G	ENST00000354452.3	-	14	1695	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	TCF4_ENST00000543082.1_Missense_Mutation_p.W320R|TCF4_ENST00000356073.4_Missense_Mutation_p.W362R|TCF4_ENST00000540999.1_Missense_Mutation_p.W338R|TCF4_ENST00000561831.3_Missense_Mutation_p.W202R|TCF4_ENST00000564228.1_Missense_Mutation_p.W291R|TCF4_ENST00000565018.2_Missense_Mutation_p.W362R|TCF4_ENST00000570287.2_Missense_Mutation_p.W202R|TCF4_ENST00000561992.1_Missense_Mutation_p.W232R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000570177.2_Missense_Mutation_p.W232R|TCF4_ENST00000567880.1_Missense_Mutation_p.W302R|TCF4_ENST00000564403.2_Missense_Mutation_p.W368R|TCF4_ENST00000566279.1_Missense_Mutation_p.W302R|TCF4_ENST00000537856.3_Missense_Mutation_p.W232R|TCF4_ENST00000537578.1_Missense_Mutation_p.W338R|TCF4_ENST00000566286.1_Missense_Mutation_p.W359R|TCF4_ENST00000568740.1_Missense_Mutation_p.W337R|TCF4_ENST00000564999.1_Missense_Mutation_p.W362R|TCF4_ENST00000568673.1_Missense_Mutation_p.W338R|TCF4_ENST00000457482.3_Missense_Mutation_p.W202R|TCF4_ENST00000544241.2_Missense_Mutation_p.W291R|TCF4_ENST00000398339.1_Missense_Mutation_p.W464R	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	362					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTTCTAGACCAAACAGCTGTG	0.408000													16	609					0	0	1	0	0
SKAP2	8935	broad.mit.edu	37	7	26883668	26883668	+	Translation_Start_Site	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:26883668G>A	ENST00000539623.1	-	0	390				SKAP2_ENST00000345317.2_Silent_p.D96D			O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2						B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGGCTTCATCGTCTTTATCAT	0.408000													144	811					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:7577544A>C	ENST00000420246.2	-	7	869	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_ENST00000359597.4_Missense_Mutation_p.M246R|TP53_ENST00000269305.4_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R|TP53_ENST00000445888.2_Missense_Mutation_p.M246R|TP53_ENST00000455263.2_Missense_Mutation_p.M246R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and 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.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)		CCTCCGGTTCATGCCGCCCAT	0.572000		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)			38	215					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22928191	22928191	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:22928191G>A	ENST00000166244.3	+	17	3047	c.2975G>A	c.(2974-2976)cGg>cAg	p.R992Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	992	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGACCATGCGGGCCCAGCTG	0.682000													6	38					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207867914	207867914	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207867914C>G	ENST00000508064.2	+	5	740	c.680C>G	c.(679-681)cCt>cGt	p.P227R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	227						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGCATTATACCTAACAAATGC	0.448000													265	1150					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17660273	17660273	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:17660273G>T	ENST00000335393.4	+	15	1918	c.1780G>T	c.(1780-1782)Gcc>Tcc	p.A594S	FAM129C_ENST00000601861.1_Missense_Mutation_p.A563S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A563S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A594S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A594S|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.A527S|FAM129C_ENST00000449408.2_Missense_Mutation_p.A320S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A558S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	594										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GACCCTTGGTGCCAATGATGT	0.527000													106	721					4.07119e-57	4.69072e-57	1	1	0
MTMR12	54545	broad.mit.edu	37	5	32235181	32235181	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:32235181G>A	ENST00000382142.3	-	14	1569	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	MTMR12_ENST00000280285.5_Missense_Mutation_p.P467S|MTMR12_ENST00000264934.5_Intron	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	467	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATGCCGGGGGATGCTGGTGC	0.453000													8	268					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141200116	141200116	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:141200116G>A	ENST00000389484.3	-	66	11342	c.10371C>T	c.(10369-10371)gaC>gaT	p.D3457D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3457	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGATCCTCGTCACAAACCC	0.463000										TSP Lung(27;0.18)			81	431					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36855620	36855620	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36855620C>T	ENST00000279024.4	-	7	2259	c.1988G>A	c.(1987-1989)cGg>cAg	p.R663Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	663										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGAATAGCCCGGATAGAGGC	0.572000													21	139					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40650700	40650700	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:40650700G>A	ENST00000342449.3	-	10	1050	c.972C>T	c.(970-972)ggC>ggT	p.G324G	BRWD1_ENST00000380800.3_Silent_p.G324G|BRWD1_ENST00000333229.2_Silent_p.G324G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCATTTGAACGCCTGGCCTAG	0.333000													124	553					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32143120	32143120	+	Silent	SNP	T	T	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:32143120T>C	ENST00000375250.5	-	5	1204	c.963A>G	c.(961-963)gaA>gaG	p.E321E	ARHGAP12_ENST00000396144.4_Silent_p.E321E|ARHGAP12_ENST00000344936.2_Silent_p.E321E|ARHGAP12_ENST00000311380.4_Intron|ARHGAP12_ENST00000375245.4_Intron	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	321					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGTAGTTTTCTTCCGATGAAA	0.348000													73	296					0	0	1	0	0
NUDT9	53343	broad.mit.edu	37	4	88370318	88370318	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:88370318T>A	ENST00000473942.1	+	5	527	c.405T>A	c.(403-405)aaT>aaA	p.N135K	NUDT9_ENST00000302174.4_Missense_Mutation_p.N185K|NUDT9_ENST00000515371.1_3'UTR	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	185						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GCAGTGGAAATAAAATCATGC	0.338000													77	198					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98145915	98145915	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:98145915G>A	ENST00000357947.3	-	15	2135	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	637	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATACTCCTTCGGCCACCCAGG	0.532000													85	515					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													12	151					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100861089	100861089	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:100861089G>T	ENST00000358544.2	+	55	10214	c.10103G>T	c.(10102-10104)gGa>gTa	p.G3368V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3368					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCCCCAGAAGGAAAAGCAGGA	0.398000													16	618					1.15088e-07	1.20785e-07	1	1	0
PRL	5617	broad.mit.edu	37	6	22292852	22292852	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:22292852C>T	ENST00000306482.1	-	3	745	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	76					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AATGAACCCCCGGCCATGGGT	0.458000													51	183					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69218184	69218184	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:69218184C>G	ENST00000462284.1	+	6	702	c.400C>G	c.(400-402)Cac>Gac	p.H134D	MDM2_ENST00000299252.4_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.H103D|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	128					cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GAACAGGTGTCACCTTGAAGG	0.423000			A		"""sarcoma, glioma, colorectal, other"""								44	247					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52235424	52235424	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:52235424C>T	ENST00000282588.6	+	25	3541	c.3083C>T	c.(3082-3084)gCa>gTa	p.A1028V	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1028					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTAGAATGCAAACTGCAGA	0.383000													36	238					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			43	101					0	0	1	0	0
FAM5B	0	broad.mit.edu	37	1	177199125	177199125	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:177199125C>T	ENST00000361539.4	+	2	425	c.113C>T	c.(112-114)gCg>gTg	p.A38V		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		38						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCAGCCACGGCGGCTGCTGTG	0.687000													52	314					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87628834	87628834	+	Missense_Mutation	SNP	G	G	A	rs143353694		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:87628834G>A	ENST00000327946.7	-	6	969	c.884C>T	c.(883-885)aCg>aTg	p.T295M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	295						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GTTGTTCCTCGTGCATTTCTG	0.572000										Multiple Myeloma(13;0.14)			90	370					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796974	7796974	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:7796974C>T	ENST00000598081.1	-	1	117		c.e1+1		CLEC4G_ENST00000328853.5_Silent_p.R5R			Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G							integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACTTGCTGTACCTGGTGGTGT	0.612000													49	256					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	459	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657000													74	326					0	0	1	0	0
AC018865.8	0	broad.mit.edu	37	2	130786002	130786002	+	RNA	SNP	G	G	A	rs34238944		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:130786002G>A	ENST00000325390.3	-	0	2865					NR_026758.1																						ATATGGCCTCGTCAAAGCTCT	0.468000													10	97					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156128241	156128241	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:156128241C>T	ENST00000368285.3	+	5	693	c.426C>T	c.(424-426)tgC>tgT	p.C142C	SEMA4A_ENST00000368282.1_Silent_p.C142C|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000355014.2_Silent_p.C142C|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	142	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTACACCTGCGGCACCTTCG	0.537000													149	787					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871064	170871064	+	Silent	SNP	G	G	A	rs112748399		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:170871064G>A	ENST00000392092.2	+	3	519	c.240G>A	c.(238-240)caG>caA	p.Q80Q	TBP_ENST00000230354.6_Silent_p.Q80Q|TBP_ENST00000540980.1_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	80	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577000													15	359					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30094411	30094411	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:30094411T>G	ENST00000449726.1	+	8	1233	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.C295G|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.C295G|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.C295G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	295					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGACTCAAGTTGCTCTCCGGA	0.403000													102	548					0	0	1	0	0
VTRNA2-1	0	broad.mit.edu	37	5	135416282	135416282	+	RNA	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:135416282G>A	ENST00000602301.1	-	0	4					NR_030583.2																						AGCTAACTCCGACCCGGGTAG	0.582000													39	216					0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99947840	99947840	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:99947840A>G	ENST00000376414.4	-	2	643	c.560T>C	c.(559-561)tTt>tCt	p.F187S	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	187					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						AGTTTCTTCAAAGTTTGGATA	0.413000													88	416					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501388	55501388	+	Splice_Site	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:55501388A>G	ENST00000543010.1	+	9	2509		c.e9-1		NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2						apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTCTCCCACAGGTTGGTGTC	0.517000													52	291					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74806700	74806700	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:74806700C>G	ENST00000412021.2	-	9	1393	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	P4HA1_ENST00000394890.2_Missense_Mutation_p.D354H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D354H|P4HA1_ENST00000307116.2_Missense_Mutation_p.D354H|P4HA1_ENST00000373008.2_Missense_Mutation_p.D354H|P4HA1_ENST00000440381.1_Missense_Mutation_p.D354H	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	354						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTGCTAGGTCTTTGACGATT	0.328000													17	670					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495096	161495096	+	Silent	SNP	T	T	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:161495096T>G	ENST00000309758.4	+	1	1061	c.648T>G	c.(646-648)gcT>gcG	p.A216A		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	216					response to unfolded protein		ATP binding	p.A216A(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCATTGACGCTGGTGTCTTTG	0.597000													31	226					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780770	94780770	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:94780770C>T	ENST00000341584.3	-	2	362	c.216G>A	c.(214-216)atG>atA	p.M72I		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	72					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TAGCTAAGGCCATGGAGATGC	0.547000													61	257					0	0	1	0	0
RP11-206L10.2	0	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:700532delT	ENST00000428504.1	-	0	1021					NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453													8	69	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103355065	103355065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:103355065delT	ENST00000358392.2	-	59	4763	c.4446delA	c.(4444-4446)aafs	p.K1482fs	COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1470	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGGTCACCTTTTTCCCCTT	0.408													7	600	---	---	---	---					
TSPAN2	10100	broad.mit.edu	37	1	115601537	115601537	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:115601537delT	ENST00000369516.2	-	5	442	c.411delA	c.(409-411)aafs	p.K137fs	TSPAN2_ENST00000369515.2_Frame_Shift_Del_p.K112fs|TSPAN2_ENST00000369514.2_Frame_Shift_Del_p.K137fs	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	137						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCCCATTGCCTTTTCCCCTGT	0.418													7	1172	---	---	---	---					
APOBEC4	403314	broad.mit.edu	37	1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-	rs141411396		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aaa>aa	p.KK363del	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419													7	1174	---	---	---	---					
RHOU	58480	broad.mit.edu	37	1	228879333	228879333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:228879333delA	ENST00000366691.3	+	3	1289	c.623delA	c.(622-624)cafs	p.Q208fs		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	208					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GCCTTGACTCAAAAAAACCTC	0.493													7	848	---	---	---	---					
BRE	9577	broad.mit.edu	37	2	28521301	28521301	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:28521301delA	ENST00000344773.2	+	11	1169	c.1031delA	c.(1030-1032)cafs	p.Q344fs	BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	344	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCCCAGGCCCAAAAAAATTAT	0.448													9	907	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttc>tt	p.FR1089del	DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1089	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655													13	868	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74452025	74452025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:74452025delT	ENST00000394019.2	-	28	3585	c.3188delA	c.(3187-3189)agfs	p.K1063fs	SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1079fs|SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K982fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1079fs|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K982fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1079						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTCTGTCTCCTTTTTTTCCTT	0.517													8	664	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292													9	265	---	---	---	---					
EIF5B	9669	broad.mit.edu	37	2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:99977775_99977777delTGA	ENST00000289371.5	+	4	613_615	c.411_413delTGA	c.(409-414)agt>ag	p.SD137del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	137					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345													8	713	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)cafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													7	317	---	---	---	---					
RBM43	375287	broad.mit.edu	37	2	152112047	152112048	+	Splice_Site	INS	-	-	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:152112047_152112048insT	ENST00000331426.5	-	2	364_365	c.214_splice	c.e2+1	p.NC71_splice		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	71	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCTT	0.287													7	864	---	---	---	---					
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgg>cg	p.RE218del	EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	218							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547													7	649	---	---	---	---					
UGT1A4	0	broad.mit.edu	37	2	234627977	234627977	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:234627977delT	ENST00000373409.3	+	1	554	c.511delT	c.(511-513)ttfs	p.F172fs	UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TCCTGCTGTGTTTTTTTGGAG	0.458													7	1219	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atc>a	p.IL15del		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	15					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													8	479	---	---	---	---					
GRM7	2917	broad.mit.edu	37	3	7621012	7621013	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:7621012_7621013insT	ENST00000486284.1	+	8	2693_2694	c.2419_2420insT	c.(2419-2421)tttfs	p.F807fs	GRM7_ENST00000389336.4_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000402647.2_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000357716.4_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Frame_Shift_Ins_p.F807fs	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	807					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTTCATTCCAATTTTTTTTGGC	0.381													8	223	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aafs	p.K765fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	765	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378													9	597	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413710	138413710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:138413710delG	ENST00000477593.1	-	13	1883	c.1810delC	c.(1810-1812)ggfs	p.R604fs	PIK3CB_ENST00000544716.1_Frame_Shift_Del_p.R50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Del_p.R604fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGGGCCTCCCGGGGGGGCAGT	0.468													8	643	---	---	---	---					
RP11-85M11.2	0	broad.mit.edu	37	3	165320478	165320481	+	RNA	DEL	TATA	TATA	-	rs150429698		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:165320478_165320481delTATA	ENST00000496693.1	+	0	508																											atttttattttatatatatatata	0.314													4	5	---	---	---	---					
RNF168	165918	broad.mit.edu	37	3	196214353	196214353	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:196214353delT	ENST00000318037.3	-	3	1069	c.475delA	c.(475-477)gafs	p.R159fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	159	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TCTGCCTGTCTTTTTTCCTCT	0.458													9	1642	---	---	---	---					
C4orf26	152816	broad.mit.edu	37	4	76489680	76489680	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:76489680delA	ENST00000435974.2	+	3	486	c.468delA	c.(466-468)gcfs	p.A156fs	C4orf26_ENST00000311623.4_3'UTR	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATACTGAAGCAAAAAAAAGCC	0.363													7	675	---	---	---	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													13	435	---	---	---	---					
TICAM2	353376	broad.mit.edu	37	5	114916896	114916896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:114916896delT	ENST00000427199.2	-	2	499	c.58delA	c.(58-60)ggfs	p.R20fs	TMED7-TICAM2_ENST00000282382.4_Splice_Site|TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000408996.4_Splice_Site	NM_021649.6	NP_067681.1			toll-like receptor adaptor molecule 2											cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		ACACTGTGCCTTTTACCCCAA	0.398													8	1051	---	---	---	---					
LINC00518	0	broad.mit.edu	37	6	10430699	10430701	+	RNA	DEL	TTT	TTT	-	rs79230388		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1																						CTCTGACTAGttttttttttttt	0.448													7	16	---	---	---	---					
ZNF184	7738	broad.mit.edu	37	6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408													9	1716	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)ctfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664								p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502													7	690	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72297413	72297413	+	RNA	DEL	A	A	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:72297413delA	ENST00000438125.1	-	0	234							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ATACTCTATTAAAAAAAATAA	0.323													8	460	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151856009	151856009	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:151856009delT	ENST00000355193.2	-	44	11827	c.11609delA	c.(11608-11610)agfs	p.K3870fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K3870fs					lysine (K)-specific methyltransferase 2C																		CTCTTCGTCCTTTTTCCTTTT	0.458													8	1752	---	---	---	---					
MFHAS1	9258	broad.mit.edu	37	8	8749703	8749703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:8749703delG	ENST00000276282.6	-	1	1452	c.866delC	c.(865-867)ctfs	p.P289fs		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	289										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGCGCGGCAGGGAACTCCTC	0.627													55	229	---	---	---	---					
WHSC1L1	54904	broad.mit.edu	37	8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)gcfs	p.S200fs	WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML								7	1026	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)ggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					12	2136	---	---	---	---					
OTUD6B	51633	broad.mit.edu	37	8	92097044	92097046	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:92097044_92097046delATT	ENST00000285420.4	+	7	1019_1021	c.920_922delATT	c.(919-924)cat>c	p.HY307del	OTUD6B_ENST00000404789.3_In_Frame_Del_p.HY176del	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	277										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TTAGGAGAACATTATAATTCGGT	0.276													17	76	---	---	---	---					
HNRNPK	3190	broad.mit.edu	37	9	86586806	86586808	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:86586806_86586808delGGT	ENST00000376263.3	-	11	1165_1167	c.942_944delACC	c.(940-945)cct>cc	p.PP314del	HNRNPK_ENST00000351839.3_In_Frame_Del_p.PP314del|HNRNPK_ENST00000360384.5_In_Frame_Del_p.PP314del|HNRNPK_ENST00000376281.4_In_Frame_Del_p.PP314del|HNRNPK_ENST00000376264.2_In_Frame_Del_p.PP314del	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	314	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCCCTCTAGGTGGTGGTGGTG	0.522													9	670	---	---	---	---					
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423													9	1848	---	---	---	---					
RAB14	51552	broad.mit.edu	37	9	123954450	123954450	+	Splice_Site	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:123954450delT	ENST00000373840.4	-	3	342	c.106_splice	c.e3+1	p.K35_splice		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	35					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGAACTTACATTTTTTTTCTG	0.294													7	579	---	---	---	---					
STAM	8027	broad.mit.edu	37	10	17756616	17756618	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:17756616_17756618delCTG	ENST00000377524.3	+	14	1675_1677	c.1460_1462delCTG	c.(1459-1464)act>a	p.TA487del	STAM_ENST00000540523.1_In_Frame_Del_p.TA376del	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	487					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCCGCTACTGCTGCTGCTGC	0.493													7	653	---	---	---	---					
ARL5B	221079	broad.mit.edu	37	10	18961589	18961595	+	Frame_Shift_Del	DEL	ACTAGCT	ACTAGCT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:18961589_18961595delACTAGCT	ENST00000377275.3	+	4	527_533	c.294_300delACTAGCT	c.(292-300)cgfs	p.RLA98fs		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	98					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						ACAGGGAACGACTAGCTATTACAAAAG	0.309													43	507	---	---	---	---					
ANKRD26	22852	broad.mit.edu	37	10	27337806	27337808	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:27337806_27337808delCAT	ENST00000376087.4	-	17	1901_1903	c.1736_1738delATG	c.(1735-1740)gga>g	p.DG579del	ANKRD26_ENST00000376070.3_In_Frame_Del_p.DG136del|ANKRD26_ENST00000436985.2_In_Frame_Del_p.DG595del	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	579	Poly-Asp.					centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGAATTAATCcatcatcatcatc	0.345													7	299	---	---	---	---					
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:103345131_103345133delGGA	ENST00000370162.3	-	4	1007_1009	c.513_515delTCC	c.(511-516)ccc>cc	p.PP171del	DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000339310.3_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	171					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)					11	504	---	---	---	---					
RP11-428C19.4	0	broad.mit.edu	37	11	19296062	19296063	+	RNA	INS	-	-	A	rs34104745		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:19296062_19296063insA	ENST00000527978.1	+	0	339																											gactctgtttcaaaaaaaaaaa	0.480													7	24	---	---	---	---					
GDPD4	220032	broad.mit.edu	37	11	76928312	76928315	+	Splice_Site	DEL	ATCT	ATCT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:76928312_76928315delATCT	ENST00000376217.2	-	17	1791_1792	c.1540_splice	c.e17-1	p.514_splice	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	514					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTATGTGCAAatctatctatctat	0.471													13	516	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85437269	85437269	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:85437269delT	ENST00000359152.5	-	1	1802	c.1803delA	c.(1801-1803)aafs	p.K601fs	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	113	Ser-rich.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGCCATAACTTTTTTTGGGC	0.373													7	807	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89391931	89391932	+	RNA	INS	-	-	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:89391931_89391932insT	ENST00000532352.1	+	0	528							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAAATTATCTCTTTTTTTTCTC	0.292													25	179	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs34562444		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.230													13	25	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407177	89407177	+	RNA	DEL	C	C	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTTTTTTCCCCAATCTGG	0.303													8	188	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													7	1031	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													8	578	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													10	1378	---	---	---	---					
BRCA2	675	broad.mit.edu	37	13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-	rs80359307		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:32907421delA	ENST00000544455.1	+	10	2033	c.1806delA	c.(1804-1806)ggfs	p.G602fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTATAAAGGAAAAAAAATAC	0.303			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			8	386	---	---	---	---					
RP11-407N17.3	0	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T	rs75842899	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:39746242_39746243insT	ENST00000553728.1	+	6	1986_1987	c.1773_1774insT	c.(1771-1776)ctttttfs	p.LF591fs	CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs																							TTGCTGTTCTCTTTTTTTTGTG	0.371													8	514	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gga>g	p.EG89del	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													7	944	---	---	---	---					
GOLGA8DP	0	broad.mit.edu	37	15	22709778	22709779	+	RNA	DEL	TC	TC	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr15:22709778_22709779delTC	ENST00000314246.8	-	0	1069																											CATGCTACCATCTCTCTCTCTG	0.535													8	661	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													7	47	---	---	---	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aafs	p.K11fs	FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					12	873	---	---	---	---					
RP11-34F13.3	0	broad.mit.edu	37	15	68136075	68136075	+	RNA	DEL	G	G	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr15:68136075delG	ENST00000558889.1	+	0	121																											GAGGGAAGGAGGGAGGAAGGA	0.552													2	4	---	---	---	---					
BRICD5	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:2260586_2260588delCAG	ENST00000328540.3	-	2	1231_1233	c.115_117delCTG	c.(115-117)del	p.L39del	BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		CGGCcagcaccagcagcagcagc	0.660													9	251	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													10	331	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72822009	72822011	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:72822009_72822011delTGC	ENST00000268489.5	-	10	10836_10838	c.10164_10166delGCA	c.(10162-10167)caa>ca	p.QQ3388del	ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2474del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3388	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ctgcactttttgctgctgctgct	0.591													8	289	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72822586	72822586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:72822586delG	ENST00000268489.5	-	10	10261	c.9589delC	c.(9589-9591)agfs	p.Q3204fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.Q2290fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3204	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				tgctgctgctgGGGGGGTTGC	0.657													8	950	---	---	---	---					
SPAG9	9043	broad.mit.edu	37	17	49157025	49157025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:49157025delT	ENST00000262013.7	-	2	552	c.344delA	c.(343-345)agfs	p.K115fs	SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	115					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAAGTCCTTTTTTTCCTG	0.313													7	811	---	---	---	---					
ZNF271	0	broad.mit.edu	37	18	32888090	32888090	+	RNA	DEL	C	C	-	rs12965288	by1000genomes	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:32888090delC	ENST00000399070.3	+	0	2484					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						aaaaaaaaaaCCACCAATACC	0.393													3	4	---	---	---	---					
UBXN6	80700	broad.mit.edu	37	19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)agfs	p.K30fs	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667													8	1232	---	---	---	---					
ZNF559	84527	broad.mit.edu	37	19	9452027	9452028	+	Frame_Shift_Del	DEL	CT	CT	-	rs55837495		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:9452027_9452028delCT	ENST00000592504.1	+	6	665_666	c.410_411delCT	c.(409-411)afs	p.T137fs	ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Intron|ZNF559_ENST00000587557.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000317221.7_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF559_ENST00000393883.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000585352.1_Intron			Q9BR84	ZN559_HUMAN	zinc finger protein 559	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGACAAACACTCTAAACATCC	0.347													12	21	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													14	739	---	---	---	---					
FPR3	2359	broad.mit.edu	37	19	52327875	52327875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:52327875delT	ENST00000339223.4	+	2	1053	c.874delT	c.(874-876)ttfs	p.F293fs	FPR3_ENST00000595991.1_Frame_Shift_Del_p.F293fs	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	293					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTCCTTGGCCTTTTTTAACAG	0.428													8	989	---	---	---	---					
ZNF611	81856	broad.mit.edu	37	19	53208246	53208247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:53208246_53208247insA	ENST00000543227.1	-	6	2335_2336	c.2061_2062insT	c.(2059-2064)ttatcafs	p.LS687fs	ZNF611_ENST00000595798.1_Frame_Shift_Ins_p.LS618fs|ZNF611_ENST00000602162.1_Frame_Shift_Ins_p.LS618fs|ZNF611_ENST00000319783.1_Frame_Shift_Ins_p.LS687fs|ZNF611_ENST00000540744.1_Frame_Shift_Ins_p.LS687fs|ZNF611_ENST00000453741.2_Frame_Shift_Ins_p.LS618fs	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GATTGTTGATTAAAAGCCTTCC	0.391													140	568	---	---	---	---					
RTEL1	51750	broad.mit.edu	37	20	62292822	62292824	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:62292822_62292824delGCT	ENST00000318100.4	+	3	1101_1103	c.274_276delGCT	c.(274-276)del	p.A96del	RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	96	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGGGGCAACGCTGCTGCTGCTG	0.645													7	203	---	---	---	---					
