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
GRIK1	2897	broad.mit.edu	37	21	31045468	31045468	+	Silent	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:31045468T>C	ENST00000399914.1	-	4	1082	c.561A>G	c.(559-561)caA>caG	p.Q187Q	GRIK1_ENST00000399907.1_Silent_p.Q187Q|GRIK1_ENST00000389124.2_Silent_p.Q187Q|GRIK1_ENST00000389125.3_Silent_p.Q187Q|GRIK1_ENST00000399909.1_Silent_p.Q187Q|GRIK1_ENST00000535441.1_Silent_p.Q187Q|GRIK1_ENST00000327783.4_Silent_p.Q187Q|GRIK1_ENST00000309434.7_Silent_p.Q187Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Silent_p.Q187Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	187					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TGATGAGCTCTTGTAGACGAA	0.393000													11	26					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1650883	1650883	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650883T>C	ENST00000356200.3	-	3	371	c.137A>G	c.(136-138)gAt>gGt	p.D46G	CDK11A_ENST00000358779.5_Missense_Mutation_p.D80G|CDK11A_ENST00000357760.2_Missense_Mutation_p.D80G|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.D80G|CDK11A_ENST00000378638.2_Missense_Mutation_p.D46G|CDK11A_ENST00000404249.3_Missense_Mutation_p.D80G|CDK11A_ENST00000378635.3_Missense_Mutation_p.D80G					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCC	0.388000													35	185					0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147204390	147204390	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:147204390G>A	ENST00000432059.2	-	9	1008	c.762C>T	c.(760-762)gaC>gaT	p.D254D	SLC10A7_ENST00000335472.7_Silent_p.D267D|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000507030.1_Silent_p.D267D|SLC10A7_ENST00000394062.3_Silent_p.D267D			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	267						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TAGCCACTGTGTCTGCTGGTG	0.338000													9	7					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													8	122					0.000442599	0.000481652	1	1	0
UGT1A7	0	broad.mit.edu	37	2	234590591	234590591	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:234590591G>A	ENST00000373426.3	+	1	8	c.8G>A	c.(7-9)cGt>cAt	p.R3H	UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTGATGGCTCGTGCAGGGTGG	0.527000											OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	52	51					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682317	44682317	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:44682317G>A	ENST00000454036.1	+	20	2793	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R883H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	906					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.R883H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TATCATTTACGCATCACTGCG	0.547000													63	116					0	0	1	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526301	109526301	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:109526301C>G	ENST00000429722.2	-	4	859	c.496G>C	c.(496-498)Gac>Cac	p.D166H	ALKBH2_ENST00000343075.3_Missense_Mutation_p.D166H|ALKBH2_ENST00000440112.2_Silent_p.V99V	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	166	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCGATGTGGTCACAGCCATCT	0.532000								Direct reversal of damage					13	104					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382951	56382951	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:56382951C>T	ENST00000355701.3	-	28	6181	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1711T|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1771T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1771	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAATGCAGCCACCATGGAG	0.602000													10	7					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553302	106553302	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:106553302A>C	ENST00000369096.4	+	5	1501	c.1267A>C	c.(1267-1269)Aat>Cat	p.N423H	PRDM1_ENST00000369089.3_Missense_Mutation_p.N289H|PRDM1_ENST00000369091.2_Missense_Mutation_p.N387H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	423					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CATGAATTGTAATGGCCTGAG	0.602000			"""D, N, Mis, F, S"""		DLBCL								80	431					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								49	33					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152321302	152321302	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:152321302C>T	ENST00000243326.4	+	29	5751	c.5268C>T	c.(5266-5268)gaC>gaT	p.D1756D	RIF1_ENST00000430328.2_Silent_p.D1756D|RIF1_ENST00000444746.2_Silent_p.D1756D|RIF1_ENST00000428287.2_Silent_p.D1756D|RIF1_ENST00000453091.2_Silent_p.D1756D			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1756					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAATAATGACGTAGAGATTA	0.393000													10	36					0	0	1	0	0
FXR1	0	broad.mit.edu	37	3	180688077	180688077	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:180688077G>A	ENST00000357559.4	+	15	1918	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	FXR1_ENST00000468861.1_Missense_Mutation_p.D427N|FXR1_ENST00000305586.7_Missense_Mutation_p.D427N|FXR1_ENST00000480918.1_Missense_Mutation_p.D499N|FXR1_ENST00000491062.1_Missense_Mutation_p.D463N|FXR1_ENST00000445140.2_Missense_Mutation_p.D512N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	512					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACGAAGGACTGATGAAGATGC	0.423000													19	41					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	1961068	1961068	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:1961068C>G	ENST00000380815.4	-	5	747	c.478G>C	c.(478-480)Ggg>Cgg	p.G160R	GMDS_ENST00000530927.1_Missense_Mutation_p.G130R	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	160					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGCACTTTCCCATAAAGTTCA	0.502000													28	66					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7578290C>T	ENST00000420246.2	-	6	692		c.e6-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGGCCAGACCTAAGAGCAAT	0.552000		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)			30	4					0	0	1	0	0
IGKV1-17	0	broad.mit.edu	37	2	89416874	89416874	+	RNA	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:89416874C>A	ENST00000490686.1	-	0	336																											GTTGCAAAATCTTCAGGCTGC	0.502000													30	109					1.22384e-17	1.43752e-17	1	1	0
SDF2	6388	broad.mit.edu	37	17	26976153	26976153	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:26976153C>T	ENST00000247020.4	-	3	788	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	164	MIR 3.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CCATATTGTTCTCCTGTGACA	0.507000													18	52					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7702525	7702525	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7702525C>T	ENST00000572933.1	+	56	10124	c.8664C>T	c.(8662-8664)atC>atT	p.I2888I	DNAH2_ENST00000389173.2_Silent_p.I2888I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2888	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTGCACATCGTGCTCTGCC	0.592000													38	2					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39451347	39451347	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:39451347T>C	ENST00000280481.7	+	21	8854	c.8638T>C	c.(8638-8640)Ttc>Ctc	p.F2880L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2880					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCCATGGGATTCGGGCAAGA	0.438000													80	94					0	0	1	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790814	75790814	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:75790814C>T	ENST00000422325.1	-	3	453	c.131G>A	c.(130-132)aGg>aAg	p.R44K	ZNF717_ENST00000400845.3_Missense_Mutation_p.R37K|ZNF717_ENST00000477374.1_Missense_Mutation_p.R44K|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN	zinc finger protein 717	44					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GTACAGGGTCCTCTGAGCATC	0.522000													2	1					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87635192	87635192	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:87635192G>A	ENST00000376214.1	+	20	3182	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	NTRK2_ENST00000376213.1_Silent_p.T732T|NTRK2_ENST00000323115.4_Silent_p.T732T|NTRK2_ENST00000277120.3_Silent_p.T748T	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	732	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AATTCACGACGGAAAGCGACG	0.552000										TSP Lung(25;0.17)			46	78					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847636	40847636	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:40847636G>A	ENST00000264638.4	+	19	3307	c.3090G>A	c.(3088-3090)cgG>cgA	p.R1030R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1030					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCTGAGCCGGCCAGTGCCAG	0.622000													6	57					0	0	1	0	0
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													5	32					1.23904e-05	1.36849e-05	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33658404	33658404	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:33658404C>T	ENST00000504830.1	-	7	1410	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	359	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCAGGGTCTCGCAGGGGCGA	0.498000										HNSCC(64;0.19)			19	124					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10969073	10969073	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:10969073A>T	ENST00000361285.4	-	7	503		c.e7+1		TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATAACTCACCTTTCACTG	0.428000													17	77					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41808612	41808612	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:41808612T>G	ENST00000392006.3	+	12	1903	c.1730T>G	c.(1729-1731)gTt>gGt	p.V577G	HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.V488G|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.V463G|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.V577G	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	577	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGGATGAGGTTCTGTTCATT	0.547000													37	52					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													5	64					0	0	1	0	0
HYAL2	8692	broad.mit.edu	37	3	50355733	50355733	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:50355733C>T	ENST00000447092.1	-	3	3541	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	HYAL2_ENST00000442581.1_Missense_Mutation_p.D417N|HYAL2_ENST00000395139.3_Missense_Mutation_p.D417N|HYAL2_ENST00000357750.4_Missense_Mutation_p.D417N			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	417	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TGGTCAATGTCGGCCCAACTG	0.612000													5	50					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9781123	9781123	+	Missense_Mutation	SNP	G	G	T	rs149733062		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:9781123G>T	ENST00000383829.2	+	3	1444	c.1040G>T	c.(1039-1041)cGc>cTc	p.R347L	BRPF1_ENST00000433861.2_Missense_Mutation_p.R347L|BRPF1_ENST00000457855.1_Missense_Mutation_p.R347L|BRPF1_ENST00000424362.1_Missense_Mutation_p.R347L|BRPF1_ENST00000302054.3_Missense_Mutation_p.R347L	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	347					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GATGACGGGCGCTGGGCCCAT	0.607000													7	220					0.00198382	0.00203892	1	1	0
SLC2A14	144195	broad.mit.edu	37	12	7982369	7982369	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:7982369A>C	ENST00000543909.1	-	10	1334	c.575T>G	c.(574-576)gTg>gGg	p.V192G	SLC2A14_ENST00000539924.1_Missense_Mutation_p.V207G|SLC2A14_ENST00000542546.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V192G|SLC2A14_ENST00000535295.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V169G|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V169G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	192					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TACCTGGGCCACCAGAATTCC	0.443000													20	30					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32335879	32335879	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:32335879C>T	ENST00000298386.2	+	3	331	c.260C>T	c.(259-261)gCg>gTg	p.A87V	RXFP2_ENST00000380314.1_Missense_Mutation_p.A87V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	87						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGTGGATGGGCGACCATATTT	0.383000													15	16					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242380727	242380727	+	Silent	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:242380727A>C	ENST00000264042.3	+	13	1337	c.1167A>C	c.(1165-1167)tcA>tcC	p.S389S	FARP2_ENST00000373287.4_Silent_p.S389S|FARP2_ENST00000545004.1_Silent_p.S389S	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	389					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGAGCATCTCATTCCCCGAGG	0.478000													24	32					0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128753004	128753004	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:128753004T>C	ENST00000377970.2	+	3	1675	c.1165T>C	c.(1165-1167)Ttt>Ctt	p.F389L	MYC_ENST00000524013.1_Missense_Mutation_p.F388L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	374	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAAACGGAGCTTTTTTGCCCT	0.522000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""								119	132					0	0	1	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9881	9881	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrM:9881T>C	ENST00000362079.2	+	1	675	c.675T>C	c.(673-675)ttT>ttC	p.225_225insF						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CAACTAATATTTCACTTTACA	0.428000													19	91					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42128268	42128268	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:42128268G>A	ENST00000401548.3	+	10	1156	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Silent_p.R112R|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	372							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGTGGTGAGGAGCCTGCAGG	0.557000													11	1					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598842	62598842	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:62598842G>A	ENST00000450537.1	-	3	216	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ZNF512B_ENST00000369888.1_Silent_p.P52P|ZNF512B_ENST00000217130.3_Silent_p.P52P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGCCTGGCCGGGCACTGTCT	0.637000													119	104					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	14864	14864	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrM:14864T>C	ENST00000361789.2	+	1	118	c.118T>C	c.(118-120)Tgc>Cgc	p.40_40insR						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TCCTTGGCGCCTGCCTGATCC	0.493000													72	46					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35862430	35862430	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35862430G>T	ENST00000237530.6	+	15	1996	c.1685G>T	c.(1684-1686)cGg>cTg	p.R562L	RPN2_ENST00000373622.5_Missense_Mutation_p.R530L|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	562					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAGTGGATCCGGATTGGTGCC	0.448000													6	53					0.00198382	0.00203892	1	1	0
C8orf76	84933	broad.mit.edu	37	8	124243797	124243797	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:124243797C>T	ENST00000276704.4	-	4	609	c.558G>A	c.(556-558)gcG>gcA	p.A186A	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Silent_p.A154A	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	186							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTGAGATGACGCAAGTGCTG	0.438000													18	128					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6452620	6452620	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:6452620C>T	ENST00000265983.3	-	10	1310	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	404					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AAGGCTCCGTCTACCTTCTCA	0.572000													47	10					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987459	154987459	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:154987459C>A	ENST00000368426.3	+	3	460	c.323C>A	c.(322-324)aCa>aAa	p.T108K	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.T142K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.T108K|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.T108K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	108	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTGCCTATACAGCCACACTG	0.632000													19	56					6.49762e-13	7.28521e-13	1	1	0
SCLT1	132320	broad.mit.edu	37	4	129886450	129886450	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:129886450A>T	ENST00000281142.5	-	11	1304	c.801T>A	c.(799-801)caT>caA	p.H267Q	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	267						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTCTCTTCCATGGGCAGACA	0.343000													13	26					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25251535	25251535	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:25251535G>T	ENST00000400358.4	+	8	746	c.689G>T	c.(688-690)aGt>aTt	p.S230I	SGSM1_ENST00000400359.4_Missense_Mutation_p.S230I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	230						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGCATTCCAGTGGCAGCATG	0.572000													4	45					0.217242	0.217242	1	1	0
TAF1	6872	broad.mit.edu	37	X	70621556	70621556	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:70621556C>A	ENST00000449580.1	+	25	4013	c.3962C>A	c.(3961-3963)aCc>aAc	p.T1321N	TAF1_ENST00000276072.3_Missense_Mutation_p.T1342N|TAF1_ENST00000373790.4_Missense_Mutation_p.T1321N|TAF1_ENST00000423759.1_Missense_Mutation_p.T1342N			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1321					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTGAAGGGACCAAAATTGTC	0.433000													26	13					8.24728e-16	9.53592e-16	1	1	0
LRP3	4037	broad.mit.edu	37	19	33696691	33696691	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:33696691G>A	ENST00000253193.7	+	5	1217	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	339	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCTGGAGGCCGCCCAGGGCCG	0.711000													3	14					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9043072	9043072	+	Silent	SNP	A	A	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:9043072A>G	ENST00000382496.5	-	23	3827	c.3162T>C	c.(3160-3162)caT>caC	p.H1054H	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1054					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCCAGTGAGATGTGGGTTGA	0.333000													27	28					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563198	22563198	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:22563198G>A	ENST00000419308.2	-	2	866	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	FOXA2_ENST00000377115.4_Missense_Mutation_p.R222C|FOXA2_ENST00000319993.4_Missense_Mutation_p.R228C	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	222					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCGGGCGAGCGGGGCACCTTC	0.627000													53	36					0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86193464	86193464	+	Silent	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:86193464C>G	ENST00000321764.3	+	7	977	c.675C>G	c.(673-675)gcC>gcG	p.A225A		NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	225					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						TACAGCTGGCCAAATTTCGCA	0.463000													14	207					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34192255	34192255	+	Silent	SNP	G	G	A	rs145279639		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:34192255G>A	ENST00000373381.4	-	16	2576	c.2400C>T	c.(2398-2400)agC>agT	p.S800S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	760	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGATGGTGCCGCTGGGCGAAG	0.562000													24	26					0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35207242	35207242	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35207242G>C	ENST00000373874.2	+	2	264	c.65G>C	c.(64-66)aGg>aCg	p.R22T	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R22T|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R22T	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGAAGCGCAGGGGGAACCTG	0.602000													52	123					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123628012	123628012	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:123628012G>T	ENST00000373896.3	-	9	1128	c.876C>A	c.(874-876)caC>caA	p.H292Q	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.H83Q	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGCTCCCAGTGGTGGTTGA	0.557000													20	55					2.37509e-13	2.70395e-13	1	1	0
SSX7	280658	broad.mit.edu	37	X	52677447	52677447	+	Splice_Site	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:52677447C>G	ENST00000298181.5	-	6	489		c.e6-1			NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TGGGCATGATCTTTATAATGT	0.438000													67	33					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935656	47935656	+	Silent	SNP	C	C	T	rs144930504	byFrequency	TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:47935656C>T	ENST00000236877.6	-	9	2552	c.2157G>A	c.(2155-2157)ccG>ccA	p.P719P	SLC8A2_ENST00000539381.1_Silent_p.P182P|SLC8A2_ENST00000542837.1_Silent_p.P475P	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	719					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAAAGCACGACGGCAGCCGCT	0.637000													40	73					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986290	42986290	+	Silent	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:42986290G>C	ENST00000326974.4	+	6	924	c.729G>C	c.(727-729)tcG>tcC	p.S243S	KLHDC3_ENST00000332245.8_Silent_p.S184S|KLHDC3_ENST00000244670.8_Silent_p.S109S	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	243					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGAGCCACTCGGCCTGTGAGT	0.572000													33	198					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1650881	1650881	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650881C>G	ENST00000356200.3	-	3	373	c.139G>C	c.(139-141)Gat>Cat	p.D47H	CDK11A_ENST00000358779.5_Missense_Mutation_p.D81H|CDK11A_ENST00000357760.2_Missense_Mutation_p.D81H|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.D81H|CDK11A_ENST00000378638.2_Missense_Mutation_p.D47H|CDK11A_ENST00000404249.3_Missense_Mutation_p.D81H|CDK11A_ENST00000378635.3_Missense_Mutation_p.D81H					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCCAAAGAATCATCTTCTTCT	0.393000													35	183					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50045994	50045994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:50045994C>A	ENST00000281631.5	+	3	314	c.156C>A	c.(154-156)taC>taA	p.Y52*	PARP8_ENST00000505554.1_Nonsense_Mutation_p.Y31*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000514067.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	52						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTGTATCCTACTCAGTACATG	0.333000													5	2					0.000602214	0.000645853	1	1	0
FASTKD5	60493	broad.mit.edu	37	20	3127481	3127481	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:3127481G>C	ENST00000380266.3	-	2	2557	c.2236C>G	c.(2236-2238)Cga>Gga	p.R746G	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	746	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAGCGAGTTCGTTTCAGTAGT	0.488000													35	83					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21940750	21940750	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:21940750G>A	ENST00000328843.6	+	83	13481	c.13450G>A	c.(13450-13452)Gag>Aag	p.E4484K	CDCA7L_ENST00000356195.5_3'UTR|CDCA7L_ENST00000406877.3_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.E4477K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4484					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAGACCTACGAGTGCCCTGT	0.527000									Kartagener syndrome				48	59					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761779	55761779	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:55761779G>A	ENST00000278409.1	-	1	322	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTCGGTTGTCGCCAGGGAGAT	0.478000													52	34					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1828425	1828425	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:1828425G>A	ENST00000170168.4	-	2	457	c.363C>T	c.(361-363)tcC>tcT	p.S121S	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	121						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gggccTCGGCGGAGCGGTGCT	0.731000													18	2					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377285	44377285	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:44377285C>T	ENST00000587539.1	-	3	1080	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZNF404_ENST00000324394.6_Missense_Mutation_p.G359R	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAGGCCTTTCCACAATCCTTA	0.393000													17	14					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251350	40251350	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:40251350G>A	ENST00000302541.6	+	11	2013	c.1671G>A	c.(1669-1671)tcG>tcA	p.S557S	MYRIP_ENST00000444716.1_Silent_p.S557S|MYRIP_ENST00000396217.3_Silent_p.S468S|MYRIP_ENST00000425621.1_Silent_p.S557S|MYRIP_ENST00000539167.1_Silent_p.S370S|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	557	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TTTAGGTGTCGGATGATTTAT	0.483000													30	64					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130764852	130764852	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:130764852G>T	ENST00000509018.1	-	27	4728	c.4523C>A	c.(4522-4524)cCt>cAt	p.P1508H	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P1516H|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000307984.5_Intron|FNIP1_ENST00000514667.1_Missense_Mutation_p.P1558H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1508					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATATCCTGGAGGAGTGGGAGG	0.448000													73	7					1.43675e-24	1.71484e-24	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576290	158576290	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:158576290G>C	ENST00000361284.1	+	1	62	c.62G>C	c.(61-63)gGg>gCg	p.G21A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCCAGTTCTGGGGAGTTGCAG	0.473000													16	120					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386910	124386910	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:124386910C>T	ENST00000303921.2	-	2	2161	c.1511G>A	c.(1510-1512)tGc>tAc	p.C504Y		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	504				FC -> LG (in Ref. 3; AAC51281).		endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGAATAATGCAAAATCCATA	0.423000													25	38					0	0	1	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110950343	110950343	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:110950343G>T	ENST00000256644.4	-	1	221	c.146C>A	c.(145-147)cCg>cAg	p.P49Q	LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		GGACCGTAACGGCGCCTCCAA	0.617000													11	48					0.000673444	0.000711927	1	1	0
GALNT2	2590	broad.mit.edu	37	1	230203056	230203056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:230203056delG	ENST00000366672.4	+	1	101	c.29delG	c.(28-30)tcfs	p.C10fs	GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_5'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	10					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ATGCTGCTCTGCTTCGCCTTC	0.771													2	4	---	---	---	---					
NGEF	25791	broad.mit.edu	37	2	233785144	233785144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:233785144delC	ENST00000264051.3	-	5	956	c.678delG	c.(676-678)gafs	p.E226fs	NGEF_ENST00000373552.4_Frame_Shift_Del_p.E134fs|NGEF_ENST00000409079.1_Frame_Shift_Del_p.E134fs	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcct	0.592													32	36	---	---	---	---					
AC011322.1	0	broad.mit.edu	37	3	196711853	196711854	+	RNA	INS	-	-	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:196711853_196711854insA	ENST00000445739.1	-	0	240																											gcgcaggatgcggaggttgcag	0.554													2	4	---	---	---	---					
CELP	0	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs63239560		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2																						AGGATGCCCCTGTGCCCCTCA	0.677													3	4	---	---	---	---					
CUTC	51076	broad.mit.edu	37	10	101492109	101492109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr10:101492109delA	ENST00000370476.5	+	1	133	c.4delA	c.(4-6)aafs	p.K2fs	CUTC_ENST00000493385.1_Intron	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	2					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GTGGAGCATGAAAAGGCAGGG	0.677													2	4	---	---	---	---					
RP11-522N14.1	0	broad.mit.edu	37	12	124762486	124762488	+	RNA	DEL	CCT	CCT	-	rs56853585		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:124762486_124762488delCCT	ENST00000540762.1	+	0	444																											tctccacccccctcctcctcctc	0.596													2	4	---	---	---	---					
PIEZO1	9780	broad.mit.edu	37	16	88800396	88800398	+	In_Frame_Del	DEL	CTG	CTG	-	rs62639697		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr16:88800396_88800398delCTG	ENST00000301015.9	-	17	2491_2493	c.2245_2247delCAG	c.(2245-2247)del	p.Q749del	RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	749						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane	ion channel activity	p.Q749delQ(1)|p.E756_D757insE(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						cctcctcctcctgctgctgctgc	0.665													3	4	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61835075	61835075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:61835075delC	ENST00000370339.3	-	4	558	c.217delG	c.(217-219)ctfs	p.A73fs	YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.A23fs|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	73										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GACCACGGAGCCTCATTGAGG	0.517													44	93	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17131430	17131432	+	RNA	DEL	CAC	CAC	-	rs142037179		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458																											caccatccatcaccaacagaaac	0.443													3	4	---	---	---	---