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
EPPK1	83481	broad.mit.edu	37	8	144940411	144940411	+	Silent	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr8:144940411G>A	ENST00000525985.1	-	2	7082	c.7011C>T	c.(7009-7011)cgC>cgT	p.R2337R				P58107	EPIPL_HUMAN	epiplakin 1	2337						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCAGCAGGCGGATGCCGT	0.701000													43	944					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202631979	202631979	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:202631979C>T	ENST00000264276.6	-	3	520	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.V50M	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	50					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCATGTTTCACTCCGAGGGCT	0.488000													37	37					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921051	24921051	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:24921051C>T	ENST00000329468.2	+	1	511	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACCCGGGTGCCGCCGCCGGCC	0.667000													17	7					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114441792	114441792	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:114441792G>T	ENST00000375478.3	-	6	1683	c.1503C>A	c.(1501-1503)gaC>gaA	p.D501E	NXPE4_ENST00000424261.2_Missense_Mutation_p.D217E	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CCTGGAAAATGTCCTTTATGA	0.368000													51	21					2.48254e-18	2.74584e-18	1	1	0
SAFB	6294	broad.mit.edu	37	19	5657268	5657268	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:5657268A>C	ENST00000292123.5	+	14	1879	c.1772A>C	c.(1771-1773)gAt>gCt	p.D591A	SAFB_ENST00000592224.1_Missense_Mutation_p.D591A|SAFB_ENST00000538656.1_Missense_Mutation_p.D434A|SAFB_ENST00000433404.1_Missense_Mutation_p.D421A|SAFB_ENST00000454510.1_Missense_Mutation_p.D522A|SAFB_ENST00000588852.1_Missense_Mutation_p.D591A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	591	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AAAAGCCAGGATCGCAAATCA	0.493000													21	45					0	0	1	0	0
TRAJ10	28745	broad.mit.edu	37	14	23002505	23002505	+	RNA	SNP	C	C	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:23002505C>A	ENST00000390527.1	+	0	61																											AAAAGTGGAACTCAGTAAGTA	0.368000													39	97					1.49673e-21	1.70721e-21	1	1	0
HMCES	56941	broad.mit.edu	37	3	129023529	129023529	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:129023529C>T	ENST00000383463.4	+	7	1015	c.926C>T	c.(925-927)tCa>tTa	p.S309L	C3orf37_ENST00000389735.3_Missense_Mutation_p.S309L|C3orf37_ENST00000502878.2_Missense_Mutation_p.S309L|C3orf37_ENST00000417226.2_Missense_Mutation_p.S267L	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		309										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						AAGGAAGAGTCAGATGTTCCC	0.532000													15	79					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245847604	245847604	+	Silent	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:245847604G>A	ENST00000366518.4	+	8	1289	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	KIF26B_ENST00000407071.2_Silent_p.A776A			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	776					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCATGATCGCGCACATCTCGG	0.542000													15	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179484433	179484433	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:179484433C>A	ENST00000589042.1	-	250	46835	c.46611G>T	c.(46609-46611)caG>caT	p.Q15537H	TTN_ENST00000591111.1_Missense_Mutation_p.Q13896H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q6664H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q6597H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q6472H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q12969H|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13896	Fibronectin type-III 13.						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)			TATCACAAATCTGTAGTCGAT	0.413000													56	94					9.59835e-30	1.13013e-29	1	1	0
PDE4C	5143	broad.mit.edu	37	19	18333077	18333077	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:18333077C>T	ENST00000355502.3	-	6	1170	c.299G>A	c.(298-300)aGc>aAc	p.S100N	PDE4C_ENST00000594617.2_Missense_Mutation_p.S100N|PDE4C_ENST00000447275.2_5'UTR|PDE4C_ENST00000262805.11_Missense_Mutation_p.S68N|PDE4C_ENST00000594465.2_Missense_Mutation_p.S100N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	100					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CAGGCCAGGGCTGGACTGAGG	0.612000													7	59					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1542221	1542221	+	Splice_Site	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:1542221C>T	ENST00000263071.4	-	8	1293		c.e8-1		SCARF1_ENST00000571272.1_Splice_Site|SCARF1_ENST00000348987.3_Splice_Site	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCCAGAGCCTGGGGGAGCC	0.627000													25	25					0	0	1	0	0
HMCES	56941	broad.mit.edu	37	3	129023505	129023505	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:129023505C>G	ENST00000383463.4	+	7	991	c.902C>G	c.(901-903)tCa>tGa	p.S301*	C3orf37_ENST00000389735.3_Nonsense_Mutation_p.S301*|C3orf37_ENST00000502878.2_Nonsense_Mutation_p.S301*|C3orf37_ENST00000417226.2_Nonsense_Mutation_p.S259*	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		301										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						AAGGAAGACTCAAAAACACCT	0.507000													20	101					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147083	55147083	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr6:55147083G>A	ENST00000370862.3	+	7	1502	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	389					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCACCATCGCCAGGAGGAT	0.443000													14	26					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67983743	67983743	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr16:67983743G>A	ENST00000422611.2	-	12	1753	c.1714C>T	c.(1714-1716)Ctc>Ttc	p.L572F	SLC12A4_ENST00000576616.1_Missense_Mutation_p.L570F|SLC12A4_ENST00000338335.3_Missense_Mutation_p.L570F|SLC12A4_ENST00000572037.1_Missense_Mutation_p.L522F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.L539F|SLC12A4_ENST00000316341.3_Missense_Mutation_p.L570F|SLC12A4_ENST00000537830.2_Missense_Mutation_p.L564F	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	570					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGGCGATGAGGATGCCCAGC	0.632000													4	19					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318755	21318755	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:21318755G>A	ENST00000583088.1	+	3	996	c.101G>A	c.(100-102)gGc>gAc	p.G34D	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G34D	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TTCGGCAACGGCAAGGTGCAC	0.632000										Prostate(3;0.18)			6	76					0	0	1	0	0
ZRSR2	8233	broad.mit.edu	37	X	15841049	15841049	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:15841049G>A	ENST00000307771.7	+	11	1157	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	378					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGCAGGCTGCGGGGAAGGAGA	0.532000			"""F, S, Mis"""		"""MDS, CLL"""								30	46					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240637438	240637438	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:240637438T>C	ENST00000319653.9	+	18	5383	c.5153T>C	c.(5152-5154)aTa>aCa	p.I1718T	FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000543681.1_Missense_Mutation_p.I38T|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000545751.1_Missense_Mutation_p.I314T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1718					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAAGCAAAGATAAGCATGAAA	0.333000													32	35					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98495430	98495430	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:98495430A>G	ENST00000359863.4	+	8	783	c.574A>G	c.(574-576)Atg>Gtg	p.M192V	TRRAP_ENST00000355540.3_Missense_Mutation_p.M192V|TRRAP_ENST00000446306.3_Missense_Mutation_p.M192V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	192					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AATGGTTGGTATGATAACAAC	0.443000													70	88					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73028230	73028230	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:73028230G>T	ENST00000268057.4	+	14	1212	c.1171G>T	c.(1171-1173)Gcc>Tcc	p.A391S	BBS4_ENST00000395205.2_Missense_Mutation_p.A399S|BBS4_ENST00000539603.1_Missense_Mutation_p.A379S|BBS4_ENST00000542334.1_Missense_Mutation_p.A219S	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAAGAAGAACGCCCTGGCCCA	0.483000									Bardet-Biedl syndrome				51	164					2.76378e-25	3.20248e-25	1	1	0
OR10G3	26533	broad.mit.edu	37	14	22038026	22038026	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:22038026G>T	ENST00000303532.1	-	1	849	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGGGGGTTGAGGAAAGGAGTG	0.552000													41	66					4.01765e-15	4.37744e-15	1	1	0
OSBP	5007	broad.mit.edu	37	11	59361581	59361581	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:59361581T>C	ENST00000263847.1	-	8	1938	c.1459A>G	c.(1459-1461)Act>Gct	p.T487A		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	487					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CGGAAGACAGTAGTGGAGTAG	0.498000													23	36					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086348	100086348	+	Missense_Mutation	SNP	C	C	T	rs141511133		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:100086348C>T	ENST00000423930.1	+	4	1163	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	NYAP1_ENST00000454988.1_Missense_Mutation_p.P278L|NYAP1_ENST00000300179.2_Missense_Mutation_p.P335L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	335	Pro-rich.																CAGCACCGGCCTCCACTCCTG	0.672000													33	54					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127738413	127738413	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:127738413G>A	ENST00000336505.5	-	15	1437	c.1379C>T	c.(1378-1380)gCa>gTa	p.A460V	SCAI_ENST00000373549.4_Missense_Mutation_p.A483V	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	460					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTTTGGATATGCTGTAGGAGA	0.333000													12	77					0	0	1	0	0
CCBL2	56267	broad.mit.edu	37	1	89427797	89427797	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:89427797T>C	ENST00000260508.4	-	6	822	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.Y128C|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	162					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CATGGGCTCATAGCAGTCATA	0.378000													19	66					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	943					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.577000													4	4					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303125	53303125	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:53303125C>G	ENST00000438150.2	-	2	2707	c.1814G>C	c.(1813-1815)aGt>aCt	p.S605T	ZNF28_ENST00000414252.2_Missense_Mutation_p.S605T|ZNF28_ENST00000457749.2_Missense_Mutation_p.S658T|ZNF28_ENST00000360272.4_Missense_Mutation_p.S605T			P17035	ZNF28_HUMAN	zinc finger protein 28	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCCACTATGAAGCCT	0.428000													17	166					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077240	179077240	+	Silent	SNP	C	C	T	rs148651616		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:179077240C>T	ENST00000502732.1	-	12	3365	c.3162G>A	c.(3160-3162)tcG>tcA	p.S1054S	ABL2_ENST00000507173.1_Silent_p.S930S|ABL2_ENST00000511413.1_Silent_p.S951S|ABL2_ENST00000367623.4_Silent_p.S1033S|ABL2_ENST00000504405.1_Silent_p.S915S|ABL2_ENST00000344730.3_Silent_p.S936S|ABL2_ENST00000512653.1_Silent_p.S1039S|ABL2_ENST00000408940.3_Silent_p.S1018S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1054	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S1018S(1)|p.S1054S(1)|p.S1039S(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTTGGCTGGCGAGATGGAAG	0.542000			T	ETV6	AML								29	72					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102676438	102676438	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr10:102676438C>G	ENST00000238961.3	+	3	444	c.296C>G	c.(295-297)tCt>tGt	p.S99C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S99C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S99C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	99																	CCAAAAGAATCTAAACCCAAA	0.393000													21	42					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117062952	117062952	+	Silent	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:117062952G>T	ENST00000356083.3	+	51	5077	c.4686G>T	c.(4684-4686)ggG>ggT	p.G1562G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1562	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCTCGGGGGCCACCTGGCT	0.612000													13	18					3.27435e-08	3.36659e-08	1	1	0
LST3	0	broad.mit.edu	37	12	21201743	21201743	+	Silent	SNP	A	A	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:21201743A>T	ENST00000381541.3	+	9	1298	c.1233A>T	c.(1231-1233)gcA>gcT	p.A411A	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.A364A|SLCO1B7_ENST00000554957.1_Silent_p.A411A|SLCO1B3_ENST00000553473.1_Intron																							CCAAATTGGCATTTTGTTCTG	0.388000													16	26					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142731068	142731068	+	Translation_Start_Site	SNP	A	A	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:142731068A>T	ENST00000397933.2	+	0	194				U2SURP_ENST00000473835.2_Missense_Mutation_p.D32V|U2SURP_ENST00000493598.2_Missense_Mutation_p.D32V			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CTGAAGATGGATGCATCTGGA	0.383000													24	15					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10317327	10317327	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:10317327C>T	ENST00000403437.2	-	12	1133	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	347	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTTTCTCTTCAGGAGTGAAG	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				44	80					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55647979	55647979	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:55647979C>A	ENST00000247191.2	-	5	748	c.532G>T	c.(532-534)Ggt>Tgt	p.G178C	DLGAP5_ENST00000395425.2_Missense_Mutation_p.G178C	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	178					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTCTTGGACCAGGTCGGATT	0.348000													35	54					8.16277e-20	9.16742e-20	1	1	0
CDH9	1007	broad.mit.edu	37	5	26906904	26906904	+	Silent	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:26906904G>T	ENST00000231021.4	-	4	739	c.567C>A	c.(565-567)gcC>gcA	p.A189A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	189	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCATAGTTGGCGTCATCTG	0.408000													32	52					1.45844e-13	1.54298e-13	1	1	0
DEFB116	245930	broad.mit.edu	37	20	29891139	29891139	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr20:29891139G>T	ENST00000400549.1	-	2	184	c.185C>A	c.(184-186)cCa>cAa	p.P62Q		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	62					defense response to bacterium	extracellular region		p.P62Q(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTGATCATTTGGGCAGGTTAA	0.423000													95	210					9.47431e-33	1.13381e-32	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158596713	158596713	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:158596713T>C	ENST00000368148.3	-	41	5929	c.5749A>G	c.(5749-5751)Ata>Gta	p.I1917V	SPTA1_ENST00000368147.3_Missense_Mutation_p.I1914V|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1917					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAGCAGCTATTGCCTTAGCC	0.458000													76	88					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582451	120582451	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:120582451T>C	ENST00000300648.6	-	41	5356	c.5344A>G	c.(5344-5346)Atc>Gtc	p.I1782V		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1782					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTTTGAGGATACAGGGGATG	0.532000													26	79					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139350102	139350102	+	Silent	SNP	A	A	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:139350102A>C	ENST00000313050.7	-	18	5881	c.5808T>G	c.(5806-5808)ccT>ccG	p.P1936P	SEC16A_ENST00000290037.6_Silent_p.P1758P|SEC16A_ENST00000371706.3_Silent_p.P1758P|SEC16A_ENST00000431893.2_Silent_p.P1758P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1758	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCTCGGTGCAGGCACCGCCA	0.677000													3	11					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72049862	72049862	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr13:72049862T>C	ENST00000305425.4	-	9	2418	c.1996A>G	c.(1996-1998)Aca>Gca	p.T666A	DACH1_ENST00000313174.7_Missense_Mutation_p.T518A|DACH1_ENST00000354591.4_Missense_Mutation_p.T464A|DACH1_ENST00000359684.2_Missense_Mutation_p.T718A	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	716	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGACTATCTGTTGAAGCTGCC	0.398000													133	275					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139350103	139350103	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:139350103G>T	ENST00000313050.7	-	18	5880	c.5807C>A	c.(5806-5808)cCt>cAt	p.P1936H	SEC16A_ENST00000290037.6_Missense_Mutation_p.P1758H|SEC16A_ENST00000371706.3_Missense_Mutation_p.P1758H|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1758H	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1758	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCTCGGTGCAGGCACCGCCAG	0.677000													3	11					0.115264	0.115264	1	1	0
PGM2L1	283209	broad.mit.edu	37	11	74053584	74053584	+	Silent	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:74053584T>C	ENST00000298198.4	-	12	1865	c.1554A>G	c.(1552-1554)aaA>aaG	p.K518K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	518					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTCCACAAAATTTTGGATATT	0.328000													146	84					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53202561	53202561	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:53202561T>C	ENST00000293774.4	-	5	1400	c.1130A>G	c.(1129-1131)gAc>gGc	p.D377G	KRT4_ENST00000458244.2_Missense_Mutation_p.D283G|KRT4_ENST00000551956.1_Missense_Mutation_p.D303G			B4DRS2	B4DRS2_HUMAN	keratin 4	303						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTGTCCAGGTCCAGGTTGCG	0.587000													15	61					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575159	48575159	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr18:48575159C>T	ENST00000342988.3	+	3	891	c.353C>T	c.(352-354)gCg>gTg	p.A118V	SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V|SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V|SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	118	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTCAGTATGCGTTTGACTTA	0.398000													26	12					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128304107	128304107	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr6:128304107G>A	ENST00000368227.3	-	25	3823	c.3457C>T	c.(3457-3459)Cat>Tat	p.H1153Y	PTPRK_ENST00000368213.5_Missense_Mutation_p.H1142Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.H1168Y|PTPRK_ENST00000368210.3_Missense_Mutation_p.H1154Y|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1136Y|PTPRK_ENST00000368215.3_Missense_Mutation_p.H1135Y|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1158Y			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1135					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGCATCATGAATAAAAATG	0.318000													31	45					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28357065	28357065	+	Silent	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:28357065G>A	ENST00000261609.7	-	93	14457	c.14349C>T	c.(14347-14349)taC>taT	p.Y4783Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4783	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTGGATGGCGTACTTGAGCT	0.552000													24	53					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377224	138377224	+	Missense_Mutation	SNP	C	C	T	rs149000148	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:138377224C>T	ENST00000356818.2	+	4	1417	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R290C	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	290						nucleolus	protein binding										GTTTGCCTTCCGCAAACCTCC	0.587000													63	79					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304767	102304767	+	RNA	SNP	C	C	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:102304767C>A	ENST00000561463.1	+	0	12813																											GCAGGCACAGCGGCGTGACGA	0.597000													5	37					0.0215528	0.0218521	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11586758	11586758	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:11586758G>A	ENST00000294484.6	+	13	2802	c.2664G>A	c.(2662-2664)atG>atA	p.M888I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.M888I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	888					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGCTTGTATGTCTACAGTAG	0.572000													97	160					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35435232	35435232	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:35435232A>C	ENST00000439785.1	+	5	1809	c.1365A>C	c.(1363-1365)aaA>aaC	p.K455N	ZNF30_ENST00000426813.2_Missense_Mutation_p.K373N|ZNF30_ENST00000601142.1_Missense_Mutation_p.K454N|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.K455N	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTGGAGAGAAACCCTATGAGT	0.443000													14	40					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149492440	149492440	+	RNA	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:149492440G>A	ENST00000378016.2	+	0	6329							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCACGCTGGAGGGGATGCT	0.657000													11	9					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131008049	131008049	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:131008049C>A	ENST00000307968.7	-	13	2003	c.2004G>T	c.(2002-2004)gaG>gaT	p.E668D	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.E651D|FNIP1_ENST00000510461.1_Missense_Mutation_p.E696D	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTAAGCCTGACTCTGACAATG	0.433000													107	54					1.42366e-38	1.73212e-38	1	1	0
ZFAND4	93550	broad.mit.edu	37	10	46121831	46121831	+	Silent	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr10:46121831T>C	ENST00000374366.3	-	8	1683	c.1218A>G	c.(1216-1218)ccA>ccG	p.P406P	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Silent_p.P480P|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	480							zinc ion binding										GTAGCGACATTGGTGCAGAAC	0.438000													65	163					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5657267	5657267	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:5657267G>A	ENST00000292123.5	+	14	1878	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	SAFB_ENST00000592224.1_Missense_Mutation_p.D591N|SAFB_ENST00000538656.1_Missense_Mutation_p.D434N|SAFB_ENST00000433404.1_Missense_Mutation_p.D421N|SAFB_ENST00000454510.1_Missense_Mutation_p.D522N|SAFB_ENST00000588852.1_Missense_Mutation_p.D591N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	591	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAAAAGCCAGGATCGCAAATC	0.488000													21	43					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303097	53303097	+	Silent	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:53303097T>C	ENST00000438150.2	-	2	2735	c.1842A>G	c.(1840-1842)gaA>gaG	p.E614E	ZNF28_ENST00000414252.2_Silent_p.E614E|ZNF28_ENST00000457749.2_Silent_p.E667E|ZNF28_ENST00000360272.4_Silent_p.E614E			P17035	ZNF28_HUMAN	zinc finger protein 28	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCTTGCCACATTCATTACACT	0.423000													33	156					0	0	1	0	0
LAMTOR2	28956	broad.mit.edu	37	1	156024746	156024746	+	Silent	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:156024746C>T	ENST00000368305.4	+	1	204	c.66C>T	c.(64-66)acC>acT	p.T22T	LAMTOR2_ENST00000368302.3_Silent_p.T22T|LAMTOR2_ENST00000368304.5_Silent_p.T22T|LAMTOR2_ENST00000489664.1_3'UTR	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	22					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						TCCAGAGCACCCTGTGAGTGC	0.662000													12	12					0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6601546	6601546	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:6601546C>T	ENST00000229238.3	-	3	739	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	93					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TTTCCTCTTTCGGATACAACG	0.443000													143	332					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108183634	108183634	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:108183634C>T	ENST00000273353.3	-	16	1698	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	548	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATACACTCTTCTTCAAGGATG	0.433000													57	31					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561648	11561648	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:11561648G>A	ENST00000294484.6	+	2	737	c.599G>A	c.(598-600)aGc>aAc	p.S200N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S200N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	200					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCAATCGGAGCGGGCGACTT	0.682000													5	7					0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176988776	176988776	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:176988776C>T	ENST00000249499.6	+	2	1341	c.932C>T	c.(931-933)aCc>aTc	p.T311I	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	311						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ATGTACCTCACCCGGGACCGG	0.507000													64	71					0	0	1	0	0
HMCES	56941	broad.mit.edu	37	3	129023602	129023602	+	Silent	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:129023602C>G	ENST00000383463.4	+	7	1088	c.999C>G	c.(997-999)ctC>ctG	p.L333L	C3orf37_ENST00000389735.3_Silent_p.L333L|C3orf37_ENST00000502878.2_Silent_p.L333L|C3orf37_ENST00000417226.2_Silent_p.L291L	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		333										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						CTGCAGGACTCCTAGAGCAAT	0.552000													10	52					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953721	89953721	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:89953721G>T	ENST00000405460.2	+	21	4474		c.e21-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTAATTTCAGGTCCTGGGAT	0.393000													23	13					1.64293e-13	1.71334e-13	1	1	0
TIMP1	7076	broad.mit.edu	37	X	47445926	47445926	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:47445926C>T	ENST00000218388.4	+	6	630	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Missense_Mutation_p.P90S	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	154					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						CCAGGTGTTTCCCTGTTTATC	0.572000													22	8					0	0	1	0	0
PSMA3	5684	broad.mit.edu	37	14	58714471	58714471	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:58714471G>A	ENST00000216455.4	+	2	115	c.25G>A	c.(25-27)Gac>Aac	p.D9N	PSMA3_ENST00000557508.1_Intron|PSMA3_ENST00000412908.2_Missense_Mutation_p.D9N	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CCTTAAGTATGACCTGTCAGC	0.403000													25	49					0	0	1	0	0
EGLN1	54583	broad.mit.edu	37	1	231557605	231557605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:231557605delC	ENST00000366641.3	-	1	3185	c.30delG	c.(28-30)ggfs	p.G10fs		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	10					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	TCGGGCTCGGCCCGCCGGGCC	0.751													2	4	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)del	p.Q570del	TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													7	136	---	---	---	---					
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868218	+	RNA	DEL	GTGT	GTGT	-	rs56304844		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:110868215_110868218delGTGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgtgt	0.490													3	5	---	---	---	---					
PRIMA1	145270	broad.mit.edu	37	14	94187794	94187811	+	In_Frame_Del	DEL	ACCACTGCGTTGTTCACG	ACCACTGCGTTGTTCACG	-	rs145428699		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:94187794_94187811delACCACTGCGTTGTTCACG	ENST00000393140.1	-	5	543_560	c.441_458delCGTGAACAACGCAGTGGT	c.(439-459)gag>ga	p.DVNNAVV147del	PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_In_Frame_Del_p.DVNNAVV147del	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	147					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCAGACTCACACCACTGCGTTGTTCACGTCTACTCCTT	0.573													15	32	---	---	---	---					
EFTUD2	9343	broad.mit.edu	37	17	42931928	42931930	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:42931928_42931930delGAG	ENST00000426333.2	-	22	2550_2552	c.2253_2255delCTC	c.(2251-2256)cct>cc	p.PS751del	EFTUD2_ENST00000592576.1_In_Frame_Del_p.PS741del|EFTUD2_ENST00000591382.1_In_Frame_Del_p.PS751del|EFTUD2_ENST00000402521.3_In_Frame_Del_p.PS716del	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	751						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTGTACCTCAGAGGGCAGAGTAT	0.522													38	85	---	---	---	---					
LONP1	9361	broad.mit.edu	37	19	5693347	5693349	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:5693347_5693349delTCT	ENST00000360614.3	-	17	2820_2822	c.2663_2665delAGA	c.(2662-2667)atc>a	p.KI888del	LONP1_ENST00000590729.1_In_Frame_Del_p.KI758del|LONP1_ENST00000593119.1_In_Frame_Del_p.KI824del|LONP1_ENST00000540670.2_In_Frame_Del_p.KI692del|LONP1_ENST00000585374.1_In_Frame_Del_p.KI774del	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	888					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGGCAGGATCTTGCCCGTGAG	0.650													21	42	---	---	---	---					
CCDC22	28952	broad.mit.edu	37	X	49103374	49103374	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:49103374delC	ENST00000376227.3	+	7	1067	c.897delC	c.(895-897)ttfs	p.F299fs		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	299										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CAGAGAAGTTCACCTTCCATC	0.602													2	4	---	---	---	---					
BTK	695	broad.mit.edu	37	X	100611872	100611873	+	Frame_Shift_Ins	INS	-	-	CACTA			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:100611872_100611873insCACTA	ENST00000308731.7	-	14	1411_1412	c.1248_1249insTAGTG	c.(1246-1251)gtagtafs	p.V417fs	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	417	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCCCATACTTCACTACCCCAA	0.441									Agammaglobulinemia, X-linked				115	79	---	---	---	---					
