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
DNAH3	55567	broad.mit.edu	37	16	21051256	21051256	+	Missense_Mutation	SNP	G	G	A	rs141534193	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:21051256G>A	ENST00000261383.3	-	33	4647	c.4648C>T	c.(4648-4650)Cgg>Tgg	p.R1550W	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1550	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1550W(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCACTGTCCGGAACAAGGCC	0.483000													5	100					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991424	21991424	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:21991424T>A	ENST00000594012.1	-	7	1911	c.1397A>T	c.(1396-1398)cAt>cTt	p.H466L	ZNF43_ENST00000354959.4_Missense_Mutation_p.H472L|ZNF43_ENST00000598381.1_Missense_Mutation_p.H466L|ZNF43_ENST00000595461.1_Missense_Mutation_p.H466L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATTCTCTTATGTGTAGTAAG	0.363000													35	105					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91781407	91781407	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:91781407G>T	ENST00000370425.3	-	28	3203	c.3105C>A	c.(3103-3105)gaC>gaA	p.D1035E	HFM1_ENST00000370424.3_Missense_Mutation_p.D714E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.D267E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1035	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.D1035D(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GATTATCTGCGTCACCTATGA	0.313000													16	73					6.31663e-08	6.69945e-08	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36752352	36752352	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:36752352G>A	ENST00000354618.5	+	4	745	c.521G>A	c.(520-522)cGc>cAc	p.R174H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	174	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTCTAAGCGCAAGTCTGCA	0.517000			T	USP6	aneurysmal bone cysts								6	517					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234475	45234475	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:45234475T>G	ENST00000066544.3	-	7	739	c.646A>C	c.(646-648)Aat>Cat	p.N216H	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.N216H|CDC27_ENST00000527547.1_Missense_Mutation_p.N216H|CDC27_ENST00000446365.2_Missense_Mutation_p.N155H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	216					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GATTCTAAATTCAATCTGTTT	0.308000													3	40					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11113801	11113801	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:11113801G>A	ENST00000358026.2	+	12	2193	c.1909G>A	c.(1909-1911)Ggg>Agg	p.G637R	SMARCA4_ENST00000444061.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G637R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G637R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G637R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G637R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	637					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCCAAAGCCGGGCAGCTGGA	0.622000			"""F, N, Mis"""		NSCLC								43	113					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53433969	53433969	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr12:53433969G>A	ENST00000262056.9	+	15	2124	c.1798G>A	c.(1798-1800)Ggt>Agt	p.G600S	EIF4B_ENST00000420463.3_Missense_Mutation_p.G605S|EIF4B_ENST00000416762.3_Missense_Mutation_p.G561S|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	600					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CTCTGTTGATGGTGAAGATGA	0.438000													16	63					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136593156	136593156	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:136593156C>G	ENST00000531224.1	-	8	2272	c.2020G>C	c.(2020-2022)Gtt>Ctt	p.V674L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.V672L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V672L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.V501L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V672L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V674L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	674					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTTAAAAACTCTCTCTTCC	0.289000													8	154					0	0	1	0	0
SLC35F5	80255	broad.mit.edu	37	2	114513046	114513046	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:114513046C>T	ENST00000245680.2	-	2	529	c.116G>A	c.(115-117)aGg>aAg	p.R39K	SLC35F5_ENST00000409342.1_Missense_Mutation_p.R33K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	39					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CTTAAGAGCCCTTCTGAGATC	0.388000													7	64					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70897859	70897859	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:70897859C>G	ENST00000322773.4	+	47	3039	c.2937C>G	c.(2935-2937)atC>atG	p.I979M	COL19A1_ENST00000393344.1_Missense_Mutation_p.I601M	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	979	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGGGGCCATCGGTCCTATGG	0.562000													15	47					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393522	154393522	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:154393522G>A	ENST00000435029.4	+	1	263	c.103G>A	c.(103-105)Gtg>Atg	p.V35M		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	35	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTTTCCTTCGTGCCCGGGGA	0.517000													29	85					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3284146	3284146	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:3284146G>A	ENST00000436008.2	-	10	2129	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	SLC22A23_ENST00000490273.1_Missense_Mutation_p.S267F|SLC22A23_ENST00000406686.3_Missense_Mutation_p.S548F|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.S267F			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	548					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CACCGCATGGGAGGCAAACAT	0.587000													15	31					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514995	75514995	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr14:75514995T>G	ENST00000355774.2	-	2	1579	c.1364A>C	c.(1363-1365)gAg>gCg	p.E455A	MLH3_ENST00000556740.1_Missense_Mutation_p.E455A|MLH3_ENST00000556257.1_Missense_Mutation_p.E455A|MLH3_ENST00000238662.7_Missense_Mutation_p.E455A|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	455					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TAAAGATGGCTCTGTCATTTT	0.368000								Mismatch excision repair (MMR)					50	168					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39590903	39590903	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:39590903G>A	ENST00000331256.5	+	5	816	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		181						extracellular region	acid phosphatase activity|metal ion binding										GACAACGCCCGTGTTGGGGAT	0.587000													28	91					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003437	166003437	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:166003437T>G	ENST00000360093.3	-	12	1974	c.1483A>C	c.(1483-1485)Agt>Cgt	p.S495R	SCN3A_ENST00000409101.3_Missense_Mutation_p.S495R|SCN3A_ENST00000283254.7_Missense_Mutation_p.S495R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	495				S -> G (in Ref. 2; AAK00219).		voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCTTTAGCACTTTTGGAACTC	0.448000													6	209					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478000													4	32					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183888545	183888545	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:183888545G>A	ENST00000360982.2	-	3	984	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R70C	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	70					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.R76C(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGTTGCGGGTTTCTACA	0.368000													35	125					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	RNA	SNP	A	A	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:1593261A>T	ENST00000436493.2	-	0	364																											CTCAGGGCACATGCCTGACCA	0.542000													8	76					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													4	50					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94044269	94044269	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:94044269T>A	ENST00000515393.1	-	22	2875	c.2876A>T	c.(2875-2877)gAt>gTt	p.D959V	MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Missense_Mutation_p.D475V|MCTP1_ENST00000429576.2_Missense_Mutation_p.D652V|MCTP1_ENST00000312216.8_Missense_Mutation_p.D738V|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	959					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCATTGTTATCAATTGCATA	0.333000													28	57					0	0	1	0	0
XBP1	7494	broad.mit.edu	37	22	29195100	29195100	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr22:29195100C>A	ENST00000216037.6	-	2	341	c.269G>T	c.(268-270)cGa>cTa	p.R90L	XBP1_ENST00000405219.3_Missense_Mutation_p.R40L|XBP1_ENST00000344347.5_Missense_Mutation_p.R90L|XBP1_ENST00000403532.3_Missense_Mutation_p.R90L	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	90					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AGCCTTCTTTCGATCTCTGGC	0.388000													20	72					1.1804e-14	1.31853e-14	1	1	0
DPH5	51611	broad.mit.edu	37	1	101456040	101456040	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:101456040G>A	ENST00000593496.1	+	1	280	c.34G>A	c.(34-36)Gga>Aga	p.G12R	DPH5_ENST00000488176.1_Missense_Mutation_p.P261L|DPH5_ENST00000427040.2_Missense_Mutation_p.P22L|DPH5_ENST00000342173.7_Missense_Mutation_p.P260L|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000370109.3_Missense_Mutation_p.P261L																							CATCTCCATTGGATGTATGCT	0.423000													49	180					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173795824	173795824	+	Splice_Site	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:173795824G>A	ENST00000361951.4	+	2	854		c.e2-1		DARS2_ENST00000239457.5_Splice_Site	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial						tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTTTTTTAAAGAATTCAGTAG	0.348000													10	65					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99091497	99091497	+	Silent	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:99091497G>A	ENST00000337673.6	-	3	1544	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	447					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGGTTTCCCCGCATTCCTCAC	0.428000													5	290					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29113381	29113381	+	RNA	SNP	A	A	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:29113381A>G	ENST00000564580.1	+	0	1281																											CATTAGGAGTACCACTGGAGG	0.473000													28	73					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469931	25469931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:25469931C>A	ENST00000264709.3	-	9	1448	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E371*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.E148*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.E182*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	371	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGGACCTCGTAGATGGCT	0.597000			"""Mis, F, N, S"""		AML								13	29					1.5842e-08	1.69736e-08	1	1	0
DENND5A	23258	broad.mit.edu	37	11	9192362	9192362	+	Translation_Start_Site	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr11:9192362C>T	ENST00000527700.1	-	0	1430				DENND5A_ENST00000328194.3_Intron|DENND5A_ENST00000530044.1_Intron			Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A											breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						cacacacacacacataaatac	0.383000													6	101					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114470140	114470140	+	Silent	SNP	T	T	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr9:114470140T>C	ENST00000394779.3	-	15	2488	c.2244A>G	c.(2242-2244)ttA>ttG	p.L748L	C9orf84_ENST00000394777.4_Silent_p.L713L|C9orf84_ENST00000374287.3_Silent_p.L787L|C9orf84_ENST00000318737.4_Silent_p.L787L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	787										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTACCCCCTTAAAACACCTT	0.318000													4	180					0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30915092	30915092	+	Silent	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:30915092G>A	ENST00000375318.2	-	3	434	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	80					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TGCACCACGCGAAGCTGTTGA	0.577000													23	65					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75199695	75199695	+	Silent	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:75199695C>G	ENST00000413679.2	+	10	1356	c.1053C>G	c.(1051-1053)acC>acG	p.T351T	SEC14L1_ENST00000392476.2_Silent_p.T351T|SEC14L1_ENST00000431431.2_Silent_p.T317T|SEC14L1_ENST00000436233.4_Silent_p.T351T|SEC14L1_ENST00000443798.4_Silent_p.T351T|SEC14L1_ENST00000591437.1_Silent_p.T317T|SEC14L1_ENST00000585618.1_Silent_p.T351T|SEC14L1_ENST00000430767.4_Silent_p.T351T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	351	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGATGGACACCAAAGGCTTGG	0.582000													10	31					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129427	83129427	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrX:83129427G>A	ENST00000329312.4	+	4	1748	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	571					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAAAGATGGAAGGACTGGA	0.378000													20	11					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84884658	84884658	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:84884658A>G	ENST00000403245.3	-	15	1927	c.1813T>C	c.(1813-1815)Tgt>Cgt	p.C605R	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.C529R	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	605					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTCACCACAGTATCCTAAG	0.348000													6	14					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103326700	103326700	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr13:103326700C>T	ENST00000376052.3	+	28	3455	c.3439C>T	c.(3439-3441)Cat>Tat	p.H1147Y	TPP2_ENST00000376065.4_Missense_Mutation_p.H1134Y|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1134					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTGGCAGACCATCTTCTTCA	0.448000													19	49					0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23714010	23714010	+	Silent	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr18:23714010G>T	ENST00000308268.6	+	1	170	c.81G>T	c.(79-81)gcG>gcT	p.A27A	PSMA8_ENST00000415576.2_Silent_p.A27A|PSMA8_ENST00000343848.6_Silent_p.A27A	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	p.A27A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCCAGGAAGCGGTGAAGAAAG	0.557000													24	72					1.64293e-13	1.79696e-13	1	1	0
CHPF	79586	broad.mit.edu	37	2	220404670	220404670	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:220404670T>A	ENST00000243776.6	-	4	2011	c.1763A>T	c.(1762-1764)cAg>cTg	p.Q588L	CHPF_ENST00000535926.1_Missense_Mutation_p.Q426L	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	588						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCGGCTGTCTGCACACTGAG	0.657000													22	84					0	0	1	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458619	90458619	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:90458619C>A	ENST00000603238.1	+	2	295	c.295C>A	c.(295-297)Cag>Aag	p.99_99insK																								CCGCAGCCTGCAGCCTGAAGA	0.498000													34	1009					1.39806e-14	1.54522e-14	1	1	0
UNKL	64718	broad.mit.edu	37	16	1453187	1453187	+	Missense_Mutation	SNP	G	G	A	rs145589979		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:1453187G>A	ENST00000389221.4	-	3	445	c.446C>T	c.(445-447)cCg>cTg	p.P149L	UNKL_ENST00000301712.5_Missense_Mutation_p.P149L|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000508903.2_Missense_Mutation_p.P149L|UNKL_ENST00000397462.1_Missense_Mutation_p.P236L	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	149						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				ACACACGGGCGGCCGCAGGTC	0.637000													6	25					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183498656	183498656	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:183498656A>C	ENST00000367537.3	+	9	1113	c.918A>C	c.(916-918)gaA>gaC	p.E306D	SMG7_ENST00000456731.2_Missense_Mutation_p.E235D|SMG7_ENST00000507469.1_Missense_Mutation_p.E277D|SMG7_ENST00000515829.2_Missense_Mutation_p.E277D|SMG7_ENST00000347615.2_Missense_Mutation_p.E277D|SMG7_ENST00000508461.1_Missense_Mutation_p.E235D			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	277					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGAAATTGGAAGAACAGTTTA	0.383000													42	76					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568370	223568370	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:223568370G>T	ENST00000366875.3	+	1	1656	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	518										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CGACAGGCCAGGAGTCACGTG	0.577000													6	156					0.00116845	0.00117968	1	1	0
TP53	7157	broad.mit.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:7577609C>G	ENST00000420246.2	-	7	805		c.e7-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_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.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAGAGCCAACCTAGGAGATAA	0.527000		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)			48	42					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171514775	171514775	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:171514775C>A	ENST00000367742.3	+	17	5163	c.4921C>A	c.(4921-4923)Cca>Aca	p.P1641T	PRRC2C_ENST00000426496.2_Missense_Mutation_p.P1639T|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P1639T|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P1641T			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1639							protein C-terminus binding										CCCTAAAAAACCAAAAGAGAA	0.343000													5	26					8.12818e-05	8.28601e-05	1	1	0
TMEM198	130612	broad.mit.edu	37	2	220412513	220412513	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:220412513G>T	ENST00000344458.2	+	4	1037	c.452G>T	c.(451-453)gGg>gTg	p.G151V	TMEM198_ENST00000373883.3_Missense_Mutation_p.G151V			Q66K66	TM198_HUMAN	transmembrane protein 198	151	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTCCACTGGGGCTGTTGCTG	0.711000													5	29					1	1	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144881472	144881472	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:144881472A>C	ENST00000369359.4	-	28	4173	c.4135T>G	c.(4135-4137)Ttt>Gtt	p.F1379V	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.F1379V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.F1242V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.F1242V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.F1198V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1242					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCTGAGCAAAGACAGTGGCT	0.453000			T	PDGFRB	MPD								73	484					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208352	106208352	+	RNA	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr14:106208352T>A	ENST00000390548.2	-	0	547																											GACCACACGGTACGTGCTGTT	0.587000													101	594					0	0	1	0	0
C3orf72	401089	broad.mit.edu	37	3	138668424	138668424	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:138668424G>C	ENST00000383165.3	+	2	294	c.163G>C	c.(163-165)Ggt>Cgt	p.G55R		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	55										large_intestine(1)|lung(3)	4						GGCTGGAATCGGTCTCCCCAA	0.527000													18	64					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72139420	72139420	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:72139420C>T	ENST00000268482.3	+	18	2893	c.2384C>T	c.(2383-2385)cCa>cTa	p.P795L	DHX38_ENST00000536867.1_Missense_Mutation_p.P107L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	795	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CTCTAGGCTCCAGATGGCGTT	0.522000													41	113					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173772306	173772306	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:173772306G>C	ENST00000356198.2	-	6	1181	c.896C>G	c.(895-897)tCt>tGt	p.S299C	CENPL_ENST00000345664.6_Missense_Mutation_p.S253C|CENPL_ENST00000367710.3_Missense_Mutation_p.S253C	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	253					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TATTGCGAAAGAAATGTCCAG	0.468000													23	100					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129292448	129292448	+	Silent	SNP	C	C	T	rs141704122		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:129292448C>T	ENST00000393239.1	-	13	3004	c.2826G>A	c.(2824-2826)acG>acA	p.T942T	PLXND1_ENST00000324093.4_Silent_p.T942T			Q9Y4D7	PLXD1_HUMAN	plexin D1	942	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCTCCGACACCGTGTATCTGT	0.642000													5	71					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	79245629	79245629	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:79245629C>A	ENST00000566780.1	+	9	1547	c.1181C>A	c.(1180-1182)gCc>gAc	p.A394D	WWOX_ENST00000539474.2_Missense_Mutation_p.P204T|WWOX_ENST00000402655.2_Silent_p.G178G|WWOX_ENST00000406884.2_Missense_Mutation_p.A214D	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	394	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GAAGAGACGGCCCGGACCCTG	0.627000													20	71					1.22574e-08	1.32683e-08	1	1	0
C7orf63	79846	broad.mit.edu	37	7	89939466	89939466	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:89939466A>T	ENST00000389297.4	+	23	2991	c.2740A>T	c.(2740-2742)Aaa>Taa	p.K914*	C7orf63_ENST00000497910.1_Nonsense_Mutation_p.K896*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.K868*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	914							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TATTGCTCTTAAAAAACTGCC	0.448000													26	91					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105359984	105359984	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr14:105359984G>T	ENST00000453495.1	+	15	4499	c.4271G>T	c.(4270-4272)cGg>cTg	p.R1424L	CEP170B_ENST00000414716.3_Missense_Mutation_p.R1388L|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1318L|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1353L					centrosomal protein 170B																		AACAAGACGCGGCCTCGGAAC	0.677000													9	20					7.48243e-07	7.77876e-07	1	1	0
SUPT20H	55578	broad.mit.edu	37	13	37614572	37614572	+	Silent	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr13:37614572T>G	ENST00000360252.4	-	9	787	c.540A>C	c.(538-540)tcA>tcC	p.S180S	SUPT20H_ENST00000475892.1_Silent_p.S179S|SUPT20H_ENST00000542180.1_Silent_p.S167S|SUPT20H_ENST00000356185.3_Silent_p.S180S|SUPT20H_ENST00000350612.6_Silent_p.S179S|SUPT20H_ENST00000464744.1_Silent_p.S180S|SUPT20H_ENST00000470359.2_5'UTR	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		CACTTGTTATTGAATGTACAT	0.254000													14	23					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123252	81123252	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr4:81123252G>C	ENST00000339711.4	+	10	1867	c.636G>C	c.(634-636)caG>caC	p.Q212H	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H|PRDM8_ENST00000504452.1_Missense_Mutation_p.Q212H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	212	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcaaagaccagcagcagcagc	0.652000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	63					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815883	31815883	+	Silent	SNP	G	G	C	rs146803682		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:31815883G>C	ENST00000446923.2	+	9	3409	c.3018G>C	c.(3016-3018)tcG>tcC	p.S1006S	ZEB1_ENST00000542815.3_Silent_p.S955S|ZEB1_ENST00000361642.5_Silent_p.S1023S|ZEB1_ENST00000320985.10_Silent_p.S1022S|ZEB1_ENST00000560721.2_Silent_p.S1002S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1022	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGGGCGACTCGGACGAGAGAG	0.517000													4	21					0	0	1	0	0
SLC25A6	293	broad.mit.edu	37	X	1505588	1505588	+	Silent	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrX:1505588C>T	ENST00000381401.5	-	4	1518	c.804G>A	c.(802-804)aaG>aaA	p.K268K		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	268					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGAAGAAGGCCTTGCCCCCCT	0.622000													48	168					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9739527	9739527	+	Silent	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:9739527G>A	ENST00000296003.4	+	18	1868	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000351233.5_Intron|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	582						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCAGCTTCCCGGATGAGCTCC	0.562000													5	309					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	628842	628842	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:628842C>T	ENST00000321878.5	+	6	1286	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000026218.5_Missense_Mutation_p.S376L|PIGQ_ENST00000409527.2_Missense_Mutation_p.S376L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	376	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	p.S376L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGGGCCTCTCGGCCTGCCTG	0.632000													40	108					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158520096	158520096	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:158520096T>C	ENST00000415822.2	+	1	443	c.302T>C	c.(301-303)cTt>cCt	p.L101P	MFSD1_ENST00000392813.4_Missense_Mutation_p.L101P|MFSD1_ENST00000264266.8_Missense_Mutation_p.L52P	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	52					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATGTGCTTCCTTGGCTTTGGT	0.642000													4	49					0	0	1	0	0
RFPL1S	10740	broad.mit.edu	37	22	29833673	29833673	+	RNA	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr22:29833673C>T	ENST00000461286.2	-	0	4703					NR_002727.2																						AAGACCTGAGCGCCCAGTGGA	0.562000													6	23					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11794371	11794371	+	Silent	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:11794371C>T	ENST00000356957.3	-	7	1031	c.924G>A	c.(922-924)gcG>gcA	p.A308A	TXNDC11_ENST00000283033.5_Silent_p.A281A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	308					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATACCAGTTTCGCAAGATGTT	0.348000													31	81					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.662000													25	80					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46690552	46690552	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:46690552T>C	ENST00000274793.7	-	2	273	c.77A>G	c.(76-78)tAc>tGc	p.Y26C	PLA2G7_ENST00000538237.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.Y26C|PLA2G7_ENST00000541026.1_Intron	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	26					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGGATTTATGTATTGCCAGTC	0.478000													8	36					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503665	140503665	+	Silent	SNP	G	G	A	rs147086302	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:140503665G>A	ENST00000194152.1	+	1	2085	c.2085G>A	c.(2083-2085)tcG>tcA	p.S695S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		695					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGCCTCGGTGTCGTCGC	0.701000													62	219					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44513009	44513009	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:44513009C>T	ENST00000429154.2	+	3	311	c.83C>T	c.(82-84)gCc>gTc	p.A28V	ZNF230_ENST00000585632.1_Missense_Mutation_p.A28V	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTGGACCCTGCCCAGAGGAAG	0.517000													5	266					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88530464	88530464	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr12:88530464C>T	ENST00000552810.1	-	6	740	c.397G>A	c.(397-399)Gac>Aac	p.D133N	CEP290_ENST00000309041.7_Missense_Mutation_p.D133N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	133					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTCCATGTCCTCCAATTCT	0.368000													26	106					0	0	1	0	0
EXOSC5	56915	broad.mit.edu	37	19	41895669	41895669	+	Splice_Site	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:41895669C>A	ENST00000221233.4	-	4	676		c.e4+1		EXOSC5_ENST00000596905.1_Splice_Site|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5						DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TTCACACCTACCTTTTCTTGC	0.617000													46	149					2.13384e-23	2.43536e-23	1	1	0
IFNAR2	3455	broad.mit.edu	37	21	34634903	34634903	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr21:34634903T>C	ENST00000404220.3	+	9	1207	c.878T>C	c.(877-879)aTt>aCt	p.I293T	IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.I293T|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000342136.4_Intron|IFNAR2_ENST00000413881.1_Intron|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	gcagtggctattcacaggtgc	0.443000													7	22					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80646698	80646698	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:80646698G>C	ENST00000299564.8	-	5	1198	c.1043C>G	c.(1042-1044)cCt>cGt	p.P348R	CDYL2_ENST00000566173.1_Missense_Mutation_p.P349R|CDYL2_ENST00000563890.1_Missense_Mutation_p.P349R|CDYL2_ENST00000562812.1_Missense_Mutation_p.P349R	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	348						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CACCACGATAGGCTTCTTAAA	0.562000													10	70					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		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)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	9					0	0	1	0	0
NDUFB2	4708	broad.mit.edu	37	7	140404687	140404687	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:140404687C>G	ENST00000476279.1	+	3	345	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	NDUFB2_ENST00000476470.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000482954.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000475276.1_Missense_Mutation_p.Q64E|NDUFB2_ENST00000204307.5_Missense_Mutation_p.Q81E|NDUFB2_ENST00000247866.4_Missense_Mutation_p.Q91E|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000460088.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000465506.1_Missense_Mutation_p.Q91E|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000471136.1_Missense_Mutation_p.Q79E|NDUFB2_ENST00000472695.1_Missense_Mutation_p.Q27E			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	91					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	TGATCCTTCCCAGTGGACAGA	0.388000													18	45					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061028	15061028	+	Silent	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:15061028T>A	ENST00000430939.2	-	9	1611	c.1482A>T	c.(1480-1482)ggA>ggT	p.G494G	SLC1A6_ENST00000600144.1_Silent_p.G480G|SLC1A6_ENST00000221742.3_Silent_p.G558G			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	558					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCTCGTTGCCTCCCCGTCCCC	0.647000													11	24					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397691	116397691	+	Splice_Site	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:116397691G>T	ENST00000397752.3	+	8	2165		c.e8-1		MET_ENST00000436117.2_Splice_Site|MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTCCCCTCCAGGATCCTGTAA	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				38	137					5.43694e-19	6.13848e-19	1	1	0
SCUBE1	80274	broad.mit.edu	37	22	43634951	43634951	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr22:43634951G>C	ENST00000360835.3	-	7	863	c.737C>G	c.(736-738)gCa>gGa	p.A246G	SCUBE1_ENST00000290460.7_Missense_Mutation_p.A276G|Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	246	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTTATTGACTGCGCACGTCTC	0.577000													11	69					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17805743	17805743	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:17805743C>A	ENST00000378814.5	-	19	2266	c.2267G>T	c.(2266-2268)aGa>aTa	p.R756I	KIF13A_ENST00000378816.5_Missense_Mutation_p.R756I|KIF13A_ENST00000259711.6_Missense_Mutation_p.R756I|KIF13A_ENST00000378843.2_Missense_Mutation_p.R756I|KIF13A_ENST00000378826.2_Missense_Mutation_p.R756I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	756					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTAAAGGTCTCTCATGTCAAT	0.378000													4	82					2.56e-06	2.63529e-06	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													6	313					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91781406	91781406	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:91781406C>A	ENST00000370425.3	-	28	3204	c.3106G>T	c.(3106-3108)Gca>Tca	p.A1036S	HFM1_ENST00000370424.3_Missense_Mutation_p.A715S|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.A268S	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1036	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGATTATCTGCGTCACCTATG	0.308000													17	74					1.15088e-07	1.20842e-07	1	1	0
UBE4B	10277	broad.mit.edu	37	1	10197129	10197129	+	Silent	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:10197129C>T	ENST00000377157.3	+	16	2555	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G	UBE4B_ENST00000253251.8_Silent_p.G614G|UBE4B_ENST00000343090.6_Silent_p.G743G	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	743					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCCTAGATGGCGATCAGCCTC	0.393000													9	216					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072574	141072574	+	Silent	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:141072574T>A	ENST00000389484.3	-	83	13706	c.12735A>T	c.(12733-12735)ggA>ggT	p.G4245G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4245	EGF-like 10.				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)		CACATCTTTCTCCTGAATAAC	0.378000										TSP Lung(27;0.18)			37	100					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207646267	207646267	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:207646267T>G	ENST00000367057.3	+	10	1910	c.1721T>G	c.(1720-1722)aTc>aGc	p.I574S	CR2_ENST00000367058.3_Missense_Mutation_p.I574S|CR2_ENST00000367059.3_Missense_Mutation_p.I574S|CR2_ENST00000458541.2_Missense_Mutation_p.I547S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	574	Sushi 9.				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						GAGAGCACCATCCGTTGTACA	0.488000													31	119					0	0	1	0	0
CARD8	22900	broad.mit.edu	37	19	48737702	48737702	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:48737702C>T	ENST00000391898.3	-	3	350	c.308G>A	c.(307-309)cGt>cAt	p.R103H	CARD8_ENST00000519940.1_Missense_Mutation_p.R103H|CARD8_ENST00000520153.1_Missense_Mutation_p.R53H|CARD8_ENST00000447740.2_Missense_Mutation_p.R53H|CARD8_ENST00000521613.1_Missense_Mutation_p.R53H|CARD8_ENST00000357778.5_De_novo_Start_InFrame|CARD8_ENST00000359009.4_Missense_Mutation_p.V12M|CARD8_ENST00000520015.1_Missense_Mutation_p.R103H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520753.1_Missense_Mutation_p.R103H	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AGGAACAGCACGGAACAATAA	0.463000													18	83					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145739027	145739027	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr8:145739027G>A	ENST00000428558.2	-	13	2169	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	710	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGTCCTCGCGCCGGTTGCAG	0.612000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				3	19					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27788942	27788942	+	Silent	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:27788942C>T	ENST00000261588.4	+	26	4582	c.4563C>T	c.(4561-4563)gaC>gaT	p.D1521D		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1521										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCCTGGTGGACGACCTGCTTG	0.637000													16	58					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642000													7	50					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133694	91133694	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrX:91133694G>A	ENST00000373094.1	+	2	3300	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	PCDH11X_ENST00000406881.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A819T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A819T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A819T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	819					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGCTGTTGCTGGCACCAT	0.468000													41	43					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50763967	50763967	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr15:50763967G>A	ENST00000433963.1	+	9	1324	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	USP8_ENST00000425032.3_Missense_Mutation_p.R198Q|USP8_ENST00000307179.4_Missense_Mutation_p.R275Q|USP8_ENST00000396444.3_Missense_Mutation_p.R275Q	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	275	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACAACTCTCCGGAGTCTGAAA	0.398000													7	128					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44747227	44747228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:44747227_44747228insC	ENST00000222673.5	+	22	2885_2886	c.2843_2844insC	c.(2842-2844)tccfs	p.S948fs	OGDH_ENST00000439616.2_Frame_Shift_Ins_p.S798fs|OGDH_ENST00000543843.1_Frame_Shift_Ins_p.S899fs|OGDH_ENST00000449767.1_Frame_Shift_Ins_p.S944fs|OGDH_ENST00000447398.1_Frame_Shift_Ins_p.S959fs|OGDH_ENST00000444676.1_Frame_Shift_Ins_p.S963fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	948					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTGCAGAAGTACCCCAATGCTG	0.564													35	113	---	---	---	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)cat>cTCTat	p.143_143H>LY		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													4	4	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57522157	57522157	+	RNA	DEL	C	C	-			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr14:57522157delC	ENST00000554725.1	+	0	344																											GTTCCTCTGGCCTACTCTTTT	0.537													2	4	---	---	---	---					
C15orf39	56905	broad.mit.edu	37	15	75499309	75499310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr15:75499309_75499310insG	ENST00000360639.2	+	2	1240_1241	c.920_921insG	c.(919-921)cggfs	p.R307fs	C15orf39_ENST00000567617.1_Frame_Shift_Ins_p.R307fs|C15orf39_ENST00000394987.4_Frame_Shift_Ins_p.R307fs			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	307										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCAGCCTCTGGGGGGCCACA	0.698													12	28	---	---	---	---					
MYH8	4626	broad.mit.edu	37	17	10317738	10317739	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:10317738_10317739insA	ENST00000403437.2	-	10	962_963	c.868_869insT	c.(868-870)tcafs	p.S290fs	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	290	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTGATCTGATAAAAAATATGG	0.302									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				31	116	---	---	---	---					
AF038458.3	0	broad.mit.edu	37	19	36444100	36444101	+	RNA	INS	-	-	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:36444100_36444101insA	ENST00000592518.1	+	0	132																											GTTCTGGCCTCACCCATCTGGG	0.619													2	4	---	---	---	---					
LTBP4	8425	broad.mit.edu	37	19	41132910	41132911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:41132910_41132911insC	ENST00000308370.7	+	32	4214_4215	c.4214_4215insC	c.(4213-4215)cccfs	p.P1405fs	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Frame_Shift_Ins_p.P1368fs|LTBP4_ENST00000545697.1_Frame_Shift_Ins_p.P773fs|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Frame_Shift_Ins_p.P1338fs	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1406					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AATGTGCTACGCCCCCCCGCAT	0.629													7	41	---	---	---	---					
PCDH11Y	83259	broad.mit.edu	37	Y	4966786	4966786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrY:4966786delA	ENST00000333703.4	+	5	1647	c.1134delA	c.(1132-1134)atfs	p.I378fs	PCDH11Y_ENST00000215473.6_Frame_Shift_Del_p.I389fs|PCDH11Y_ENST00000362095.5_Frame_Shift_Del_p.I389fs	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	389	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCATTGACATAAGATACATCG	0.408													7	10	---	---	---	---