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
RAD51AP2	729475	broad.mit.edu	37	2	17698954	17698954	+	Silent	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:17698954C>T	ENST00000399080.2	-	1	752	c.729G>A	c.(727-729)ttG>ttA	p.L243L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	243										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGCAATTTCCAAGCTGGGCT	0.353000													26	55					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081348	95081348	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:95081348G>A	ENST00000553947.1	+	5	1533	c.645G>A	c.(643-645)ggG>ggA	p.G215G	SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Silent_p.G190G|SERPINA3_ENST00000393080.4_Silent_p.G190G|SERPINA3_ENST00000393078.3_Silent_p.G190G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	190					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACTAGGGGGAAAATCACAG	0.493000													54	117					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21487847	21487847	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:21487847G>A	ENST00000313654.9	+	54	7204	c.6963G>A	c.(6961-6963)ggG>ggA	p.G2321G	LAMA3_ENST00000269217.6_Silent_p.G712G|LAMA3_ENST00000399516.3_Silent_p.G2265G|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.G656G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2321	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTATGGGAGGACACAGA	0.488000													35	89					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													3	110					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044208	133044208	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr8:133044208G>A	ENST00000262283.5	-	16	1686	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	OC90_ENST00000603859.1_Silent_p.S317S|OC90_ENST00000443356.2_Silent_p.S333S|OC90_ENST00000254627.3_Silent_p.S317S			Q02509	OC90_HUMAN	otoconin 90	333					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCGGGCACCGGGATGTCAGAC	0.537000													50	81					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78473267	78473267	+	Silent	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr15:78473267C>T	ENST00000258873.4	-	9	1288	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V	ACSBG1_ENST00000541759.1_Silent_p.V119V|ACSBG1_ENST00000560817.1_Silent_p.V119V	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	361					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCAGCGTGTTCACCAGGCTCC	0.657000													34	47					0	0	1	0	0
MYL12B	103910	broad.mit.edu	37	18	3272945	3272945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:3272945C>T	ENST00000581193.1	+	2	432	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	MYL12B_ENST00000400175.5_Missense_Mutation_p.R17C|MYL12B_ENST00000584539.1_Missense_Mutation_p.R17C|MYL12B_ENST00000237500.5_Missense_Mutation_p.R17C	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	17					axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GCGCCCTCAGCGTGCAACATC	0.413000													57	126					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669382	234669382	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:234669382C>T	ENST00000360418.3	+	1	449	c.449C>T	c.(448-450)aCg>aTg	p.T150M	UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.T150M|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000305139.6_Intron			P22309	UD11_HUMAN		150					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.T150M(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTCATGCTGACGGACCCTTTC	0.527000													4	161					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36956612	36956612	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:36956612G>A	ENST00000379242.3	+	3	398	c.96G>A	c.(94-96)aaG>aaA	p.K32K	VIT_ENST00000401530.1_Silent_p.K32K|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000404084.1_Intron|VIT_ENST00000389975.3_Silent_p.K32K|VIT_ENST00000457137.2_Silent_p.K32K|VIT_ENST00000379241.3_Silent_p.K32K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	32						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AAACGGCAAAGAAGATTAAAA	0.308000													41	71					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19334907	19334907	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:19334907A>G	ENST00000252575.5	+	4	596	c.553A>G	c.(553-555)Agc>Ggc	p.S185G		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	185	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGCCGTCTCAGCTCAGCCAT	0.602000													30	49					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623935	25623935	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr22:25623935C>A	ENST00000398215.2	+	4	460	c.289C>A	c.(289-291)Ctg>Atg	p.L97M		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	97	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CCTCAGCTCCCTGAGGCCCAT	0.597000													30	69					6.00712e-18	6.4076e-18	1	1	0
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418000													3	140					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	157					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46868902	46868902	+	Silent	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr17:46868902C>T	ENST00000393382.3	-	9	1203	c.1062G>A	c.(1060-1062)agG>agA	p.R354R	TTLL6_ENST00000433608.2_Silent_p.R47R	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	306	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTCAATATCCCTCCATATCT	0.552000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	98					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364768	6364768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr17:6364768C>T	ENST00000262483.8	-	18	2502	c.2415G>A	c.(2413-2415)atG>atA	p.M805I	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.M769I	NM_031220.3	NP_112497.2																					AGAAGAAGATCATGCCCTGTG	0.607000													102	238					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89069013	89069013	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:89069013C>T	ENST00000535633.1	-	17	1854	c.1544_splice	c.e17+1	p.G515_splice	NOX4_ENST00000527956.1_Splice_Site_p.G515_splice|NOX4_ENST00000375979.3_Splice_Site_p.G232_splice|NOX4_ENST00000527626.1_Splice_Site_p.G352_splice|NOX4_ENST00000263317.4_Splice_Site_p.G539_splice|NOX4_ENST00000413594.2_Splice_Site_p.G560_splice|NOX4_ENST00000343727.5_Splice_Site_p.G515_splice|NOX4_ENST00000534731.1_Splice_Site_p.G499_splice|NOX4_ENST00000532825.1_Splice_Site_p.G475_splice|NOX4_ENST00000528341.1_Splice_Site_p.G514_splice|NOX4_ENST00000531342.1_Splice_Site_p.G192_splice|NOX4_ENST00000525196.1_Splice_Site_p.G303_splice|NOX4_ENST00000542487.1_Splice_Site_p.G515_splice|NOX4_ENST00000424319.1_Splice_Site_p.G515_splice	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	539	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TAGTACTTACCCTCTGTTATA	0.279000													29	51					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73477984	73477984	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:73477984G>C	ENST00000252034.7	+	29	2351	c.1952G>C	c.(1951-1953)gGa>gCa	p.G651A	ELN_ENST00000429192.1_Missense_Mutation_p.G637A|ELN_ENST00000414324.1_Missense_Mutation_p.G627A|ELN_ENST00000380553.4_Missense_Mutation_p.G515A|ELN_ENST00000380562.4_Missense_Mutation_p.G657A|ELN_ENST00000380575.4_Missense_Mutation_p.G622A|ELN_ENST00000380576.5_Missense_Mutation_p.G632A|ELN_ENST00000458204.1_Missense_Mutation_p.G641A|ELN_ENST00000357036.5_Missense_Mutation_p.G656A|ELN_ENST00000445912.1_Missense_Mutation_p.G651A|ELN_ENST00000320399.6_Missense_Mutation_p.G684A|ELN_ENST00000320492.7_Missense_Mutation_p.G570A|ELN_ENST00000358929.4_Missense_Mutation_p.G719A|ELN_ENST00000380584.4_Missense_Mutation_p.G603A	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	713	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGAGGACTCGGAGTCGGAGGG	0.587000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						61	150					0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2338593	2338593	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:2338593C>A	ENST00000182290.4	+	9	876	c.739C>A	c.(739-741)Cag>Aag	p.Q247K	TSPAN32_ENST00000451520.2_Missense_Mutation_p.Q236K|TSPAN32_ENST00000381121.3_Intron	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	247					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCGCCAGCCCCAGGAGCCCAG	0.577000													5	6					0.217242	0.217242	1	1	0
PGM3	5238	broad.mit.edu	37	6	83878964	83878964	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:83878964G>C	ENST00000513973.1	-	13	1734	c.1618C>G	c.(1618-1620)Cca>Gca	p.P540A	PGM3_ENST00000506587.1_Missense_Mutation_p.P568A|PGM3_ENST00000512866.1_Missense_Mutation_p.P540A|DOPEY1_ENST00000484282.1_Intron|PGM3_ENST00000283977.4_Missense_Mutation_p.P459A	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	540					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CAGAAACCTGGTTGGGGCCTT	0.373000													17	42					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114803975	114803975	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:114803975C>T	ENST00000310346.4	-	8	1643	c.977G>A	c.(976-978)aGg>aAg	p.R326K	TBX5_ENST00000349716.5_Missense_Mutation_p.R276K|TBX5_ENST00000526441.1_Missense_Mutation_p.R326K|TBX5_ENST00000405440.2_Missense_Mutation_p.R326K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	326					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTCACCTTTCCTCTTGGTACA	0.507000													26	18					0	0	1	0	0
BCL7A	605	broad.mit.edu	37	12	122492809	122492809	+	Missense_Mutation	SNP	G	G	A	rs148056282		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:122492809G>A	ENST00000538010.1	+	5	3208	c.538G>A	c.(538-540)Gca>Aca	p.A180T	BCL7A_ENST00000261822.4_Missense_Mutation_p.A180T	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	180					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGGTCTGGCCGCAGAGACGTC	0.567000			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	53					0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21057195	21057195	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:21057195T>C	ENST00000339486.3	+	11	1924	c.1307T>C	c.(1306-1308)cTg>cCg	p.L436P	RIOK3_ENST00000581585.1_Missense_Mutation_p.L420P|RIOK3_ENST00000577501.1_Missense_Mutation_p.L436P	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	436	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCACGGCCTGGAGTTCTTG	0.418000													4	214					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795595	33795595	+	Silent	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:33795595C>T	ENST00000261326.5	+	8	1473	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	484					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TTCTTAGGTTCATCATAGACA	0.562000													4	47					0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689977	42689977	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:42689977G>A	ENST00000230381.5	-	1	335	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	32			I -> V (in some patients with macular dystrophy).		cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGAAGATGATGATGCCAGCCA	0.488000													59	94					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790007	40790007	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr20:40790007G>A	ENST00000373198.3	-	18	2968	c.2733C>T	c.(2731-2733)ttC>ttT	p.F911F	PTPRT_ENST00000373193.3_Silent_p.F892F|PTPRT_ENST00000356100.2_Silent_p.F898F|PTPRT_ENST00000373184.1_Silent_p.F879F|PTPRT_ENST00000373201.1_Silent_p.F879F|PTPRT_ENST00000373190.1_Silent_p.F888F|PTPRT_ENST00000373187.1_Silent_p.F889F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	889	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTCCTCCTTGAACCCGTAGC	0.542000													37	75					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84408199	84408199	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:84408199C>A	ENST00000260505.8	-	7	1047	c.670G>T	c.(670-672)Ggg>Tgg	p.G224W	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	224	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CGCACAAGCCCATCATGGTAG	0.368000													7	64					5.4927e-09	5.73152e-09	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	89					0	0	1	0	0
PGM3	5238	broad.mit.edu	37	6	83878963	83878963	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:83878963G>A	ENST00000513973.1	-	13	1735	c.1619C>T	c.(1618-1620)cCa>cTa	p.P540L	PGM3_ENST00000506587.1_Missense_Mutation_p.P568L|PGM3_ENST00000512866.1_Missense_Mutation_p.P540L|DOPEY1_ENST00000484282.1_Intron|PGM3_ENST00000283977.4_Missense_Mutation_p.P459L	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	540					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TCAGAAACCTGGTTGGGGCCT	0.378000													16	41					0	0	1	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74212378	74212378	+	Silent	SNP	T	T	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468000													3	199					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130																											GACATCAACATGAACACCATC	0.632000													3	40					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51192630	51192630	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:51192630G>C	ENST00000382041.3	-	30	6423	c.6233C>G	c.(6232-6234)tCc>tGc	p.S2078C	NIN_ENST00000245441.5_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Intron|NIN_ENST00000382043.4_Missense_Mutation_p.S1365C|NIN_ENST00000324330.9_3'UTR	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991.1	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2078					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTTAAAGCTGGAATGTGAGGT	0.373000			T	PDGFRB	MPD								3	231					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67592108	67592108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr5:67592108C>T	ENST00000521381.1	+	15	2540	c.1924C>T	c.(1924-1926)Cga>Tga	p.R642*	PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R372*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R642*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R342*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.R279*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R650*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R642*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	642	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R642*(2)|p.R342*(1)|p.R372*(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GCGAGGGAAGCGAGATGGCAC	0.458000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			9	184					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651756	7651756	+	Silent	SNP	C	C	T	rs138586891		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:7651756C>T	ENST00000359156.4	-	4	688	c.486G>A	c.(484-486)acG>acA	p.T162T	CD163_ENST00000432237.2_Silent_p.T162T|CD163_ENST00000396620.3_Silent_p.T162T|CD163_ENST00000541972.1_Silent_p.T150T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	162	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCCTCCACGCGTCAGCCTCA	0.408000													122	250					0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529490	40529490	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:40529490C>T	ENST00000447116.2	+	6	1916	c.1609C>T	c.(1609-1611)Ccc>Tcc	p.P537S	ZNF619_ENST00000522736.1_Missense_Mutation_p.P488S|ZNF619_ENST00000521353.1_Missense_Mutation_p.P537S|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.P453S|ZNF619_ENST00000432264.2_Missense_Mutation_p.P497S|ZNF619_ENST00000314686.5_Missense_Mutation_p.P481S|ZNF619_ENST00000429348.2_Missense_Mutation_p.P497S	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	537					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCCCTACTGTCCCTGCGCCAT	0.532000													20	49					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43531067	43531067	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr21:43531067G>A	ENST00000400427.1	+	11	1915	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	UMODL1_ENST00000400424.1_Missense_Mutation_p.A507T|UMODL1_ENST00000408910.2_Missense_Mutation_p.A579T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A579T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	576	EGF-like 2; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGGGAACAGCAGCCCTCGG	0.652000													4	23					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824057	114824057	+	Silent	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr4:114824057C>T	ENST00000315366.7	-	2	2039	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	ARSJ_ENST00000541197.1_Silent_p.Q391Q	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	391						extracellular region	arylsulfatase activity|metal ion binding	p.Q391Q(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCTCATCAATCTGTCCTTCAG	0.458000													95	77					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171822	4171822	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:4171822G>A	ENST00000078445.2	+	10	1389	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	CREB3L3_ENST00000252587.3_3'UTR|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Silent_p.S413S|CREB3L3_ENST00000602257.1_Silent_p.S412S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	414					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCAATTCGACGGAGGAGC	0.677000													17	37					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				68	71					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188243710	188243710	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:188243710T>A	ENST00000409998.1	-	9	1238	c.457A>T	c.(457-459)Att>Ttt	p.I153F	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.I153F|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.I153F			Q16602	CALRL_HUMAN	calcitonin receptor-like	153						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AGTGATGCAATAGACAATCCG	0.299000													9	270					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75373755	75373755	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:75373755A>G	ENST00000555647.1	-	12	1899	c.1612T>C	c.(1612-1614)Ttt>Ctt	p.F538L	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.F538L|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.F507L|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.F538L			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	538	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTACTGAAAAAGGGATGGGAC	0.612000													5	417					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:148512600T>C	ENST00000320356.2	-	13	1665	c.1544A>G	c.(1543-1545)aAg>aGg	p.K515R	EZH2_ENST00000478654.1_Missense_Mutation_p.K501R|EZH2_ENST00000476773.1_Missense_Mutation_p.K501R|EZH2_ENST00000483967.1_Missense_Mutation_p.K501R|EZH2_ENST00000460911.1_Missense_Mutation_p.K510R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	510					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368000			Mis		DLBCL								3	209					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45630102	45630102	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr20:45630102C>T	ENST00000327619.5	+	3	519	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	EYA2_ENST00000357410.3_Missense_Mutation_p.L49F|EYA2_ENST00000317304.6_Missense_Mutation_p.L49F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	49					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGTGTCCCAGCTCTTCTCCAG	0.512000													29	56					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48603074	48603074	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:48603074G>A	ENST00000354276.3	-	5	628	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.L101F|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.L101F|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.L111F	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	101	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCAGCCTCGAGAGCTTCCATG	0.488000													96	172					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106185	27106185	+	Silent	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:27106185C>T	ENST00000324856.7	+	20	6167	c.5796C>T	c.(5794-5796)gcC>gcT	p.A1932A	ARID1A_ENST00000540690.1_Silent_p.A260A|ARID1A_ENST00000457599.2_Silent_p.A1715A|ARID1A_ENST00000374152.2_Silent_p.A1549A	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1932					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTTCAGAGGCCATCAAGGAGA	0.517000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								137	61					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065614	9065614	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:9065614T>C	ENST00000397910.4	-	3	22035	c.21832A>G	c.(21832-21834)Atc>Gtc	p.I7278V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7280	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCTGGAGATCTCAGTAGTA	0.468000													4	128					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917793	2917793	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:2917793T>C	ENST00000306908.5	+	4	1322	c.1174T>C	c.(1174-1176)Tat>Cat	p.Y392H	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.Y360H	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTCTATAAATGTGA	0.438000													5	90					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47800100	47800100	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:47800100G>A	ENST00000591416.1	-	12	1711	c.1280C>T	c.(1279-1281)aCa>aTa	p.T427I	MBD1_ENST00000398493.1_Missense_Mutation_p.T371I|MBD1_ENST00000591535.1_Missense_Mutation_p.T404I|MBD1_ENST00000398495.2_Missense_Mutation_p.T396I|MBD1_ENST00000269468.5_Missense_Mutation_p.T427I|MBD1_ENST00000339998.6_Missense_Mutation_p.T427I|MBD1_ENST00000269471.5_Missense_Mutation_p.T404I|MBD1_ENST00000587605.1_Missense_Mutation_p.T371I|MBD1_ENST00000588937.1_Missense_Mutation_p.T404I|MBD1_ENST00000382948.5_Missense_Mutation_p.T427I|MBD1_ENST00000353909.3_Missense_Mutation_p.T378I|MBD1_ENST00000349085.2_Missense_Mutation_p.T371I|MBD1_ENST00000347968.3_Missense_Mutation_p.T371I|MBD1_ENST00000590208.1_Missense_Mutation_p.T427I|MBD1_ENST00000585672.1_Missense_Mutation_p.T377I|MBD1_ENST00000585595.1_Missense_Mutation_p.T452I|MBD1_ENST00000457839.2_Missense_Mutation_p.T452I|MBD1_ENST00000436910.1_Missense_Mutation_p.T404I|MBD1_ENST00000424334.2_Missense_Mutation_p.T478I|MBD1_ENST00000398488.1_Missense_Mutation_p.T371I			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	427					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGCTGTGCGTGTAGCCAAGGT	0.622000													4	188					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695286	48695286	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr17:48695286C>A	ENST00000352832.5	+	28	5492	c.5120C>A	c.(5119-5121)cCc>cAc	p.P1707H	CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1741H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1684H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1707H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1700H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1707H|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1707H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1718H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1730H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1741H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1730H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1689H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1718H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1730H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1696H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1723H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1741H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1723H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1730H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1707H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1741H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1748H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1696H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1741					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGGCCCTGCCCCAGGTAGCC	0.647000													4	95					0.217242	0.217242	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)			7	336					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937441	66937441	+	Silent	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chrX:66937441C>T	ENST00000374690.3	+	5	2819	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Silent_p.F233F	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	764	Interaction with MYST2.|Ligand-binding.		A -> T (in AIS; loss of androgen binding).|A -> V (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542000									Androgen Insensitivity Syndrome				20	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179510746	179510746	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:179510746C>T	ENST00000589042.1	-	217	40533	c.40309G>A	c.(40309-40311)Gaa>Aaa	p.E13437K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11796K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10869K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11796	Ig-like 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACCTTTTCAGGTTCAGGT	0.348000													9	11					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78131051	78131051	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:78131051G>T	ENST00000354212.4	-	5	1061	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	MAGI2_ENST00000419488.1_Missense_Mutation_p.Q270K|MAGI2_ENST00000536571.1_Missense_Mutation_p.Q102K|MAGI2_ENST00000535697.1_Missense_Mutation_p.Q107K|MAGI2_ENST00000522391.1_Missense_Mutation_p.Q270K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	270	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGATAAGGCTGGGAGGGCATC	0.502000													21	62					4.26978e-12	4.50438e-12	1	1	0
CLEC4M	10332	broad.mit.edu	37	19	7830519	7830519	+	Silent	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:7830519C>T	ENST00000359059.5	+	3	265	c.147C>T	c.(145-147)ggC>ggT	p.G49G	CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000327325.5_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000596707.1_Silent_p.G49G|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000595496.1_Silent_p.G49G|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000248228.4_Intron	NM_001144906.1|NM_001144907.1	NP_001138378.1|NP_001138379.1	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	70					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TTCTTCTTGGCCCAGTGTCCA	0.502000													21	53					0	0	1	0	0
TMEM138	51524	broad.mit.edu	37	11	61133677	61133677	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:61133677G>T	ENST00000542946.1	+	3	488	c.289G>T	c.(289-291)Gtc>Ttc	p.V97F	TMEM138_ENST00000278826.6_Missense_Mutation_p.V97F|TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000381787.2_Missense_Mutation_p.V39F			Q9NPI0	TM138_HUMAN	transmembrane protein 138	97						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTCCCTTCATGTCTGGGTCAT	0.448000													5	124					0.000157383	0.000160732	1	1	0
TNK2	10188	broad.mit.edu	37	3	195609137	195609137	+	Silent	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:195609137G>A	ENST00000333602.6	-	6	1289	c.672C>T	c.(670-672)ttC>ttT	p.F224F	TNK2_ENST00000468819.1_Intron|TNK2_ENST00000392400.1_Silent_p.F224F|TNK2_ENST00000381916.2_Silent_p.F287F|TNK2_ENST00000316664.3_Silent_p.F224F|TNK2_ENST00000428187.1_Silent_p.F256F	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	224	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCCCAGGAGGAAGTGGCCCT	0.627000													21	59					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:56539808C>T	ENST00000390649.3	+	7	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498000													91	196					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67233292	67233292	+	Silent	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr16:67233292C>T	ENST00000393997.2	+	1	279	c.222C>T	c.(220-222)ctC>ctT	p.L74L	ELMO3_ENST00000360833.1_Silent_p.L74L	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	21					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCCCGCAGCTCATCCAGCTGG	0.701000													64	129					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60666698	60666698	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:60666698G>A	ENST00000227524.4	-	11	1112	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	303					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TCATGGGCCCGAACCACCTGT	0.567000											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	45					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								5	65					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917857	2917857	+	Missense_Mutation	SNP	C	C	T	rs148390269		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:2917857C>T	ENST00000306908.5	+	4	1386	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTGAGGACGCACACTGGA	0.438000													4	103					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1535823	1535823	+	Silent	SNP	G	G	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:1535823G>T	ENST00000389470.4	-	13	2063	c.2064C>A	c.(2062-2064)gcC>gcA	p.A688A	INTS1_ENST00000404767.3_Silent_p.A560A			Q8N201	INT1_HUMAN	integrator complex subunit 1	560					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGATGCCGGCCTCCTTCA	0.657000													41	72					1.1241e-08	1.16036e-08	1	1	0
CHD8	57680	broad.mit.edu	37	14	21899283	21899283	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:21899283G>A	ENST00000399982.2	-	1	584	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.H174Y	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	174					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGTGCCACATGGGCACCAGTG	0.552000													7	9					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133802688	133802688	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:133802688G>A	ENST00000367895.5	+	12	1522	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	EYA4_ENST00000431403.2_Missense_Mutation_p.G353E|EYA4_ENST00000355167.3_Missense_Mutation_p.G353E|EYA4_ENST00000430974.2_Missense_Mutation_p.G305E|EYA4_ENST00000531901.1_Missense_Mutation_p.G359E|EYA4_ENST00000355286.6_Missense_Mutation_p.G330E|EYA4_ENST00000525849.1_Missense_Mutation_p.G330E|EYA4_ENST00000452339.2_Missense_Mutation_p.G299E	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	353					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAGTCCAGAGGAAGAGGCCGG	0.453000													68	144					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2406764	2406764	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chrX:2406764T>C	ENST00000381223.4	-	2	2200	c.1997A>G	c.(1996-1998)gAg>gGg	p.E666G	RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	666						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				CAGGCCCCACTCCCCCTCGTC	0.647000													3	138					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22843853	22843853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:22843853G>A	ENST00000404138.1	+	14	3240	c.2729G>A	c.(2728-2730)cGc>cAc	p.R910H	ZBTB40_ENST00000374651.4_Missense_Mutation_p.R798H|ZBTB40_ENST00000375647.4_Missense_Mutation_p.R910H	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	910					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAGCTGTCCCGCCACGTGAGG	0.522000													4	220					0	0	1	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13782265	13782265	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr20:13782265C>T	ENST00000378106.5	+	7	772	c.653C>T	c.(652-654)cCt>cTt	p.P218L	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.P190L	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	218					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										CACATTTCTCCTTTCACTGCT	0.453000													30	72					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	165					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294110	25294110	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr22:25294110C>A	ENST00000400358.4	+	19	2251	c.2194C>A	c.(2194-2196)Ctg>Atg	p.L732M	SGSM1_ENST00000400359.4_Missense_Mutation_p.L787M	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	787	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGAGCCCAGTCTGAGCACAGA	0.612000													53	85					3.28884e-47	3.54751e-47	1	1	0
NWD1	284434	broad.mit.edu	37	19	16870083	16870083	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:16870083A>C	ENST00000524140.2	+	7	2235	c.1817A>C	c.(1816-1818)gAc>gCc	p.D606A	NWD1_ENST00000339803.6_Missense_Mutation_p.D471A|NWD1_ENST00000552788.1_Missense_Mutation_p.D606A|NWD1_ENST00000549814.1_Missense_Mutation_p.D606A|NWD1_ENST00000523826.1_Missense_Mutation_p.D400A|NWD1_ENST00000379808.3_Missense_Mutation_p.D606A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	606	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCCTGGACGACGAGGTCCTG	0.612000													25	58					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	758679	758679	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:758679C>T	ENST00000215582.6	+	2	1836	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L		NM_173481.2	NP_775752.1			mitotic spindle positioning																		TCCCCAACGCCAGATGAGAAC	0.607000													26	34					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56482840	56482840	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:56482840T>C	ENST00000370765.6	-	23	6099	c.5992A>G	c.(5992-5994)Agg>Ggg	p.R1998G	DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1399					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTGATACCTAACAGGTGGT	0.408000													59	125					0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272124	186272124	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:186272124G>A	ENST00000424280.1	-	6	1942	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	TBCCD1_ENST00000338733.5_Missense_Mutation_p.S488F|TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000446782.1_Missense_Mutation_p.S392F	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	488					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	p.S488F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CTGATATACAGATGGAAGACC	0.403000													43	86					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69944934	69944934	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:69944934C>T	ENST00000370598.1	+	19	3439	c.2618C>T	c.(2617-2619)tCc>tTc	p.S873F	BAI3_ENST00000238918.8_Missense_Mutation_p.S79F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	873					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCATGGAATCCTCTGGCACA	0.363000													65	138					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53202507	53202507	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:53202507C>T	ENST00000551956.1	-	5	1454	c.962G>A	c.(961-963)aGg>aAg	p.R321K	KRT4_ENST00000293774.4_Missense_Mutation_p.R395K|KRT4_ENST00000458244.2_Missense_Mutation_p.R301K			B4DRS2	B4DRS2_HUMAN	keratin 4	321						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGCCTTGCTCCTCTGGGCAAT	0.582000													39	86					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294057	62294057	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:62294057G>A	ENST00000378024.4	-	5	8106	c.7832C>T	c.(7831-7833)cCc>cTc	p.P2611L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2611					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCAACTTCGGGGCCCTTGAG	0.517000													89	154					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604623	62604623	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:62604623G>A	ENST00000281156.4	-	6	1005	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	243	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CGAGGGGTAGGGACACCTCTT	0.582000													27	37					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570073	248570073	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:248570073C>T	ENST00000366474.1	+	1	778	c.778C>T	c.(778-780)Cct>Tct	p.P260S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507000													44	81					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	39					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)ttfs	p.F526fs		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													7	276	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													7	130	---	---	---	---					
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aafs	p.K44fs	ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	44					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408													8	115	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:53529193_53529195delGAT	ENST00000288139.3	+	0	118_120				CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													8	244	---	---	---	---					
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)del	p.L92del	TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													13	300	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1																						AAGCAAATGTAAAAAAAAAAA	0.388													3	2	---	---	---	---					
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-	rs142692092	by1000genomes	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggt>gg	p.GGAGGFG132del	KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633													3	4	---	---	---	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													7	267	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													3	6	---	---	---	---					
PIGN	23556	broad.mit.edu	37	18	59752471	59752471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:59752471delA	ENST00000357637.5	-	26	2812	c.2397delT	c.(2395-2397)ttfs	p.F799fs	PIGN_ENST00000400334.3_Frame_Shift_Del_p.F799fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	799					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TTCCAGTTCCAAAAAATGCTG	0.303													2	4	---	---	---	---