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
ZNF692	55657	broad.mit.edu	37	1	249151476	249151476	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:249151476C>T	ENST00000451251.1	-	4	792	c.447G>A	c.(445-447)cgG>cgA	p.R149R	ZNF692_ENST00000306601.4_Silent_p.R144R|ZNF692_ENST00000366469.5_Silent_p.R144R|ZNF692_ENST00000366471.3_Silent_p.R144R|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Silent_p.R144R	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACCAACTTCTCCGAGTAGTAT	0.542000													62	41					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81625108	81625108	+	Silent	SNP	G	G	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:81625108G>T	ENST00000558726.1	-	22	3093	c.2958C>A	c.(2956-2958)ccC>ccA	p.P986P	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.P985P|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	985						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCTGGTGCTCGGGATCCCGGG	0.552000													5	2					0.000602214	0.000606353	1	1	0
ANXA13	312	broad.mit.edu	37	8	124710786	124710786	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:124710786A>G	ENST00000262219.6	-	5	390	c.323T>C	c.(322-324)gTa>gCa	p.V108A	ANXA13_ENST00000419625.1_Missense_Mutation_p.V67A	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	67			V -> I (in dbSNP:rs6995099).		cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTCTTGAGTACTTCCTCCAG	0.572000													19	80					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936810	150936810	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:150936810A>G	ENST00000392811.2	-	12	1631	c.1157T>C	c.(1156-1158)aTa>aCa	p.I386T	SMARCD3_ENST00000356800.2_Missense_Mutation_p.I386T|SMARCD3_ENST00000262188.8_Missense_Mutation_p.I399T	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	399					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCTGGTTTATGGACTCAAT	0.542000													27	60					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25486802	25486802	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:25486802T>C	ENST00000381884.4	-	2	547	c.362A>G	c.(361-363)aAc>aGc	p.N121S	CENPJ_ENST00000545981.1_Missense_Mutation_p.N121S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	121					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTCATTTTTGTTTTCTTCCTG	0.428000													46	50					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32663547	32663547	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:32663547C>T	ENST00000335185.5	-	13	1064	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	341										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGTGCTTTTTCATGCTCATTT	0.249000													13	8					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876238	125876238	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:125876238G>A	ENST00000393434.2	-	4	825	c.476C>T	c.(475-477)aCc>aTc	p.T159I	ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.T159I|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.T169I|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.T159I	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	159	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CGTGCTCACGGTGTCGTCCGG	0.627000													15	52					0	0	1	0	0
C5orf64	285668	broad.mit.edu	37	5	60999726	60999726	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:60999726G>A	ENST00000505642.1	+	4	334	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	C5orf64_ENST00000510414.1_3'UTR|C5orf64_ENST00000313303.7_Missense_Mutation_p.E87K	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	87						extracellular region				breast(1)	1						ATGTGTAGGAGAATATGGACC	0.378000													3	4					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639299	149639299	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:149639299C>T	ENST00000370401.2	+	4	1764	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P485L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P460L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P460L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	485					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCTCACTCCCACCAGTAAT	0.562000													30	1					0	0	1	0	0
RPL7	6129	broad.mit.edu	37	8	74204012	74204012	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:74204012A>T	ENST00000396467.1	-	4	442	c.304T>A	c.(304-306)Tgg>Agg	p.W102R	RPL7_ENST00000352983.2_Missense_Mutation_p.W142R|RPL7_ENST00000396465.1_Missense_Mutation_p.W102R|RPL7_ENST00000396466.1_Missense_Mutation_p.W102R	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	142					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ACTTACCCCCATGCAATATAT	0.368000													39	38					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75890845	75890845	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:75890845A>C	ENST00000322507.8	-	11	2283	c.1974T>G	c.(1972-1974)aaT>aaG	p.N658K	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.N658K|COL12A1_ENST00000416123.2_Missense_Mutation_p.N658K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	658	Fibronectin type-III 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGAAAAAACATTTTCTCCAG	0.433000													10	22					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388494	56388494	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:56388494C>T	ENST00000355701.3	-	19	4032	c.3162G>A	c.(3160-3162)gaG>gaA	p.E1054E	BZRAP1_ENST00000268893.6_Silent_p.E994E|BZRAP1_ENST00000343736.4_Silent_p.E1054E	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1054	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACGACCACCTCACGACACA	0.682000													4	10					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187709466	187709466	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:187709466G>A	ENST00000295131.2	-	3	300	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	87					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTGGAAGCTTGAATTTTTTCA	0.254000													12	19					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28627033	28627033	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:28627033C>T	ENST00000264716.4	+	2	1025	c.162C>T	c.(160-162)atC>atT	p.I54I	FOSL2_ENST00000379619.1_Silent_p.I29I|FOSL2_ENST00000545753.1_Silent_p.I15I|FOSL2_ENST00000460736.1_3'UTR	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	54					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TCAACGCCATCACGACCAGCC	0.542000													33	23					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110442710	110442710	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:110442710G>A	ENST00000265175.5	+	14	2491	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	SEC24B_ENST00000399100.2_Silent_p.Q777Q|SEC24B_ENST00000504968.2_Silent_p.Q842Q	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	812					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGTATTTCAGACACAGTTAC	0.418000													16	9					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27504601	27504601	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:27504601T>A	ENST00000356183.4	-	17	2810	c.2795A>T	c.(2794-2796)gAa>gTa	p.E932V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E932V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	932						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTTCAGAAATTCCTCCAGGTT	0.547000													13	29					0	0	1	0	0
ERP44	23071	broad.mit.edu	37	9	102747302	102747302	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr9:102747302G>C	ENST00000262455.6	-	11	1265	c.1066C>G	c.(1066-1068)Ctg>Gtg	p.L356V		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	356					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TCTCTGTGCAGTTTTCCAGAA	0.368000													6	2					0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3526276	3526276	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:3526276C>T	ENST00000407558.4	+	3	352	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000575076.1_Missense_Mutation_p.L17F|NAA60_ENST00000360862.5_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000573580.1_Intron|NAA60_ENST00000572942.1_Missense_Mutation_p.L17F|NAA60_ENST00000424546.2_Intron|NAA60_ENST00000421765.3_Missense_Mutation_p.L17F|NAA60_ENST00000572584.1_Missense_Mutation_p.L17F|NAA60_ENST00000414063.2_Missense_Mutation_p.L17F|NAA60_ENST00000577013.1_Missense_Mutation_p.L17F|NAA60_ENST00000576916.1_Missense_Mutation_p.L17F|NAA60_ENST00000570819.1_Missense_Mutation_p.L17F	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	17	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CAGCCTGCGCCTCCTCTGCCA	0.622000													10	13					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425707	88425707	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:88425707C>T	ENST00000393750.3	-	2	259	c.228G>A	c.(226-228)ggG>ggA	p.G76G	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.G76G			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	76					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGACTTTCTCCCCTGTCATTG	0.517000													88	66					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104715152	104715152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:104715152C>T	ENST00000334877.4	+	8	1153	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	KMT2E_ENST00000476671.1_Nonsense_Mutation_p.Q207*|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Nonsense_Mutation_p.Q207*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.Q207*					lysine (K)-specific methyltransferase 2E																		TACTGCATTTCAGCATACTCC	0.338000													36	46					0	0	1	0	0
UBAC1	10422	broad.mit.edu	37	9	138837772	138837772	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr9:138837772G>A	ENST00000371756.3	-	6	833	c.616C>T	c.(616-618)Ccg>Tcg	p.P206S		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	206	UBA 1.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGTTCTCCGGAAAGCCCATC	0.657000													11	4					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334251	108334251	+	Silent	SNP	T	T	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:108334251T>G	ENST00000520734.1	-	3	366	c.81A>C	c.(79-81)acA>acC	p.T27T	ANGPT1_ENST00000520052.1_Silent_p.T27T			Q15389	ANGP1_HUMAN	angiopoietin 1	227					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGATTATATATGTTTGACGAG	0.418000													33	34					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274214	103274214	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:103274214C>T	ENST00000233969.2	+	2	623	c.481C>T	c.(481-483)Cca>Tca	p.P161S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	161						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.P161T(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCCCACTCGCCCATTCTTTGA	0.478000													85	70					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208719	140208719	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:140208719C>T	ENST00000529310.1	+	1	1157	c.1043C>T	c.(1042-1044)cCt>cTt	p.P348L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P348L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAACGTCCCTGAGATAGCA	0.468000													20	65					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976586	20976586	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:20976586T>G	ENST00000261383.3	-	53	8619	c.8620A>C	c.(8620-8622)Att>Ctt	p.I2874L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2874	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACATTTTTAATGACAGCTGGC	0.547000													63	73					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24710422	24710422	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:24710422C>T	ENST00000399423.4	-	4	825	c.495G>A	c.(493-495)ccG>ccA	p.P165P	TINF2_ENST00000558566.1_Intron|TINF2_ENST00000267415.7_Silent_p.P165P|TINF2_ENST00000540705.1_Silent_p.P130P|TINF2_ENST00000538777.1_Intron|TINF2_ENST00000559019.1_Intron	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	165					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GCTGTGCCTGCGGTGTAGGCA	0.522000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				4	194					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833124	101833124	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:101833124C>T	ENST00000263468.8	+	6	1628	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.P254L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	453							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ACTTCAATTCCTACTTCATGT	0.373000													7	30					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449920	158449920	+	Missense_Mutation	SNP	A	A	C	rs139880690		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:158449920A>C	ENST00000368152.1	+	1	253	c.253A>C	c.(253-255)Att>Ctt	p.I85L	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTTCCTTGGCATTCTCTCAAC	0.428000													106	99					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7503367	7503367	+	Silent	SNP	T	T	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:7503367T>C	ENST00000486284.1	+	7	1747	c.1473T>C	c.(1471-1473)ggT>ggC	p.G491G	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.G491G|GRM7_ENST00000357716.4_Silent_p.G491G|GRM7_ENST00000402647.2_Silent_p.G491G|GRM7_ENST00000389336.4_Silent_p.G491G	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	491					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCAACCCGGGTTACCGTCTGA	0.478000													46	27					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63660941	63660941	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:63660941T>A	ENST00000409120.1	-	3	3737	c.187A>T	c.(187-189)Att>Ttt	p.I63F	WDPCP_ENST00000409199.1_Missense_Mutation_p.I63F|WDPCP_ENST00000272321.7_Missense_Mutation_p.I255F|WDPCP_ENST00000409562.3_Missense_Mutation_p.I255F|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Missense_Mutation_p.I96F			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	255					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCAGAAGAAATGGGGGCCCAA	0.428000													8	19					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399321	10399321	+	Silent	SNP	G	G	A	rs145122906		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:10399321G>A	ENST00000226207.5	-	35	5209	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1705						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.I1705I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTGTTCTGCGATTTTCCTGC	0.532000													17	51					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159897973	159897973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:159897973C>T	ENST00000368094.1	-	19	3402	c.3205G>A	c.(3205-3207)Gag>Aag	p.E1069K	IGSF9_ENST00000361509.3_Missense_Mutation_p.E1053K|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1069						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCACATGCTCCCTTCGGGGC	0.662000													75	58					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093469	6093469	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr18:6093469G>A	ENST00000400104.3	-	15	1458	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	L3MBTL4_ENST00000284898.6_Missense_Mutation_p.R420C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R420C|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R420C|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R233C			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	420					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R420C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCTCTCAAACGATCGTGAAGT	0.383000													40	53					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626326	49626326	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:49626326C>T	ENST00000371571.4	-	2	835	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	KCNG1_ENST00000396017.3_Missense_Mutation_p.E184K|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	184						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCGTCCTCTTCCTCCCGCTCC	0.706000													13	39					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131569131	131569131	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:131569131G>A	ENST00000261654.5	+	15	2153	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R	GPR133_ENST00000535015.1_Missense_Mutation_p.G564R|GPR133_ENST00000543617.1_Missense_Mutation_p.G51R|GPR133_ENST00000376682.4_Missense_Mutation_p.G218R	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	532	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTCACGAGAGGAAACCTCAC	0.617000													24	26					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368493	20368493	+	RNA	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:20368493G>A	ENST00000593655.1	-	0	199																											GCGGCTGTAGGTTGTGCGGCG	0.478000													7	8					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85530645	85530645	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:85530645C>G	ENST00000295887.5	+	3	732	c.309C>G	c.(307-309)atC>atG	p.I103M		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	103					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTTTCCTGATCATCTATATGG	0.348000													16	73					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081376	3081376	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:3081376C>T	ENST00000602557.1	-	29	4917	c.4362G>A	c.(4360-4362)ggG>ggA	p.G1454G	CSMD1_ENST00000400186.3_Silent_p.G1454G|CSMD1_ENST00000537824.1_Silent_p.G1453G|CSMD1_ENST00000539096.1_Silent_p.G1453G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000520002.1_Silent_p.G1454G|CSMD1_ENST00000602723.1_Silent_p.G1454G|CSMD1_ENST00000542608.1_Silent_p.G1453G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1454	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTCAGATTCCCTCCACAAG	0.502000													19	26					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997463	66997463	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:66997463C>T	ENST00000303334.4	+	3	428	c.357C>T	c.(355-357)tcC>tcT	p.S119S	CES3_ENST00000394037.1_Silent_p.S119S	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	119						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGATCTTCTCCGTTTCAGAGG	0.602000													18	32					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986293	53986293	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:53986293C>T	ENST00000514921.1	+	2	225	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.P38S|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.P49S|MLIP_ENST00000358276.5_Missense_Mutation_p.P32S|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	38	Interaction with LMNA.					nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CACATTTGTCCCCACTGTCAG	0.413000													39	44					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74653396	74653396	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:74653396G>A	ENST00000305557.5	-	13	2212	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	RTKN_ENST00000272430.5_Missense_Mutation_p.R556C|RTKN_ENST00000233330.6_Missense_Mutation_p.R506C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	556	Pro-rich.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGCCAAGTGCGAGGTTGGCCT	0.622000													77	70					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152286	45152286	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:45152286G>A	ENST00000296129.1	-	4	837	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	CDCP1_ENST00000425231.2_Silent_p.L235L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	235						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCAGACATCAGGGTTGCTGAG	0.547000													80	81					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230921727	230921727	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:230921727G>A	ENST00000354537.1	+	11	1486	c.1403_splice	c.e11-1	p.R468_splice	CAPN9_ENST00000271971.2_Splice_Site_p.R494_splice|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Splice_Site_p.R431_splice|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	494	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.R494R(1)|p.R468R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCCCCTACAGGGATATGGATG	0.478000													107	219					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10439588	10439588	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:10439588G>A	ENST00000293677.6	-	3	618	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	162	RRM 2.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGTAGACCAGGAAGCAGCGCT	0.637000													7	16					0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128750683	128750683	+	Missense_Mutation	SNP	C	C	T	rs121918685		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:128750683C>T	ENST00000377970.2	+	2	730	c.220C>T	c.(220-222)Ccg>Tcg	p.P74S	MYC_ENST00000524013.1_Missense_Mutation_p.P73S|MYC_ENST00000259523.6_Missense_Mutation_p.P59S	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	59					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GCTGCCCACCCCGCCCCTGTC	0.677000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	17					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50685762	50685762	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:50685762A>C	ENST00000230658.7	+	4	1346	c.761A>C	c.(760-762)aAa>aCa	p.K254T	ISL1_ENST00000511384.1_Missense_Mutation_p.K254T|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	254	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CCCAATGACAAAACTGTGAGT	0.577000													7	14					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179147437	179147437	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:179147437C>T	ENST00000247461.4	+	10	1258	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	CANX_ENST00000415618.2_Missense_Mutation_p.P388L|CANX_ENST00000452673.2_Missense_Mutation_p.P353L|CANX_ENST00000504734.1_Missense_Mutation_p.P353L|CANX_ENST00000512607.2_Missense_Mutation_p.P245L	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	353	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGAGGCTCCTCAGATTGCC	0.493000													37	27					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242396267	242396267	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:242396267C>T	ENST00000264042.3	+	14	1687	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	FARP2_ENST00000545004.1_Missense_Mutation_p.S506F|FARP2_ENST00000373287.4_Missense_Mutation_p.S506F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	506	Pro-rich.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGGGCTCATCCCCACTCCTG	0.637000													26	27					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38530661	38530661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:38530661G>A	ENST00000356264.2	-	5	600	c.385C>T	c.(385-387)Cct>Tct	p.P129S	AMPH_ENST00000428293.2_Missense_Mutation_p.P129S|AMPH_ENST00000325590.5_Missense_Mutation_p.P129S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	129	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.P129S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTTATGTCAGGAAATTGCCCC	0.398000													77	69					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451016	105451016	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:105451016C>A	ENST00000337685.2	+	5	2376	c.1591C>A	c.(1591-1593)Cag>Aag	p.Q531K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.Q531K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.Q531K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	531										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTAACTTCCCAGACCAAGAA	0.448000													4	1					0.00024832	0.000250889	1	1	0
USP43	124739	broad.mit.edu	37	17	9632275	9632275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:9632275C>T	ENST00000570827.2	+	15	3481	c.2407C>T	c.(2407-2409)Cga>Tga	p.R803*	USP43_ENST00000570475.1_Nonsense_Mutation_p.R1109*|USP43_ENST00000285199.6_Nonsense_Mutation_p.R1114*			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1114					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTCTTTAGGTCGAAAGAAAAC	0.493000											OREG0024168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	71					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56232489	56232489	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:56232489C>T	ENST00000322569.4	-	6	887	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MMP19_ENST00000409200.3_Missense_Mutation_p.E184K|MMP19_ENST00000548629.1_Missense_Mutation_p.E243K	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	266	Poly-Glu.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TCTTCTTCTTCCTCATCCCTT	0.532000													10	37					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369821	56369821	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:56369821G>A	ENST00000301295.6	+	3	1484	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E	NLRP4_ENST00000346986.5_Silent_p.E354E|NLRP4_ENST00000587891.1_Silent_p.E279E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	354	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAAGCAAGAGATGCAGAAAG	0.512000													20	9					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55168220	55168220	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:55168220C>T	ENST00000396834.1	+	6	834	c.338C>T	c.(337-339)gCt>gTt	p.A113V	IL31RA_ENST00000396836.2_Missense_Mutation_p.A132V|IL31RA_ENST00000354961.4_Missense_Mutation_p.A113V|IL31RA_ENST00000359040.5_Missense_Mutation_p.A132V|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000447346.2_Missense_Mutation_p.A132V|IL31RA_ENST00000490985.1_5'UTR	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	100	Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GAGGTGGAAGCTGAAAATGGA	0.328000													12	44					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198719	55198719	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:55198719G>A	ENST00000340465.2	+	3	379	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	98						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAACTGCTTGGAAAAAAATGT	0.294000													47	48					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225062	79225062	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:79225062G>A	ENST00000288439.5	-	14	2641	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	0					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCATGTGACGATGCCGCAGG	0.488000													19	27					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852180	75852180	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:75852180C>T	ENST00000356136.3	+	15	2064	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	UVRAG_ENST00000533454.1_Missense_Mutation_p.S236F|UVRAG_ENST00000531818.1_Missense_Mutation_p.S236F|UVRAG_ENST00000538870.1_Missense_Mutation_p.S164F|UVRAG_ENST00000539288.1_Missense_Mutation_p.S236F|UVRAG_ENST00000528420.1_Missense_Mutation_p.S507F|UVRAG_ENST00000532130.1_Missense_Mutation_p.S236F	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	608					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CAGGCCGGGTCCGCCAGTGTC	0.612000													12	26					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76162908	76162908	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:76162908A>T	ENST00000529032.1	+	2	77	c.77A>T	c.(76-78)gAg>gTg	p.E26V	C11orf30_ENST00000343878.3_Missense_Mutation_p.E26V|C11orf30_ENST00000525919.1_Missense_Mutation_p.E26V|C11orf30_ENST00000524767.1_Missense_Mutation_p.E26V|C11orf30_ENST00000533248.1_Missense_Mutation_p.E26V|C11orf30_ENST00000525038.1_Missense_Mutation_p.E26V|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000533988.1_Missense_Mutation_p.E26V|C11orf30_ENST00000334736.3_Missense_Mutation_p.E26V|C11orf30_ENST00000524490.1_Missense_Mutation_p.E26V			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	26	ENT.|Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TTAGAATTGGAGGCATATGCT	0.338000													3	21					0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117880973	117880973	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:117880973T>G	ENST00000371666.3	+	3	352	c.285T>G	c.(283-285)tgT>tgG	p.C95W	IL13RA1_ENST00000371642.1_Missense_Mutation_p.C95W	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	95						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAGGATTTGTCTGCAAGTGG	0.443000													48	7					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23167379	23167379	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:23167379G>A	ENST00000389131.3	-	10	2051	c.1682C>T	c.(1681-1683)aCc>aTc	p.T561I		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	561	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTCCAGGTAGGTGGTCTGCTG	0.652000													14	32					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136511780	136511780	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:136511780C>T	ENST00000272638.9	+	4	577	c.266C>T	c.(265-267)cCc>cTc	p.P89L	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	89					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AGTGGAATTCCCTTGGAAGTA	0.388000													41	26					0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52842245	52842245	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:52842245G>A	ENST00000375503.3	+	2	517	c.154G>A	c.(154-156)Gat>Aat	p.D52N	XAGE5_ENST00000375501.1_Missense_Mutation_p.D52N|XAGE5_ENST00000425386.1_Missense_Mutation_p.D52N|XAGE5_ENST00000351072.1_Missense_Mutation_p.D52N			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	52								p.D52Y(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GAGAGAAGATGATCAGGGTGC	0.547000													19	3					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122480	36122480	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr22:36122480C>A	ENST00000249044.2	+	3	365	c.365C>A	c.(364-366)aCc>aAc	p.T122N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	122					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GAACTTAACACCCTTGCGGAC	0.478000													25	19					3.28513e-13	3.38923e-13	1	1	0
DAPK3	1613	broad.mit.edu	37	19	3964974	3964974	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:3964974G>A	ENST00000545797.2	-	3	321	c.78C>T	c.(76-78)atC>atT	p.I26I	DAPK3_ENST00000301264.3_Silent_p.I26I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	26	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTTCCGCACGATCGCAAACT	0.677000													27	20					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119751973	119751973	+	Silent	SNP	G	G	A	rs149477153		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:119751973G>A	ENST00000541757.1	+	18	1586	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	MARCO_ENST00000327097.4_Silent_p.Q480Q			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	480	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.Q480Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCACTGGGCAGATCTGGCTGG	0.547000													10	21					0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23424629	23424629	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:23424629G>A	ENST00000347397.1	+	3	524	c.278G>A	c.(277-279)aGg>aAg	p.R93K	CSTL1_ENST00000246020.2_Missense_Mutation_p.R93K	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	93						extracellular region	cysteine-type endopeptidase inhibitor activity	p.R93M(1)|p.R93K(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AAATGCAAGAGGAATGACACG	0.473000													23	26					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306448	2306448	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:2306448G>A	ENST00000290974.2	-	8	1958	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.P510L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.P470L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	540					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTCGGCCACGGGCTCCGAGGC	0.667000													6	24					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45562402	45562402	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:45562402G>A	ENST00000347644.3	+	15	1641	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	526					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GGTGAGAGCTGAAATCATTAC	0.413000													20	41					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90982597	90982597	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:90982597G>A	ENST00000265433.3	-	7	1045	c.891C>T	c.(889-891)ctC>ctT	p.L297L	NBN_ENST00000409330.1_Silent_p.L215L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	297					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TATACCTTTGGAGCATATCCA	0.338000								Homologous recombination					31	22					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008570	120008570	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:120008570C>T	ENST00000341846.5	-	1	591	c.170G>A	c.(169-171)gGc>gAc	p.G57D		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	57					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAGGGCGCTGCCCAGGCTCTT	0.662000													6	74					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105181010	105181010	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:105181010G>A	ENST00000392634.4	+	21	3623	c.3511G>A	c.(3511-3513)Gat>Aat	p.D1171N	INF2_ENST00000330634.7_Missense_Mutation_p.D1171N	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1171					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCAGGTGGGGATGAGGACGA	0.682000													6	46					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16419257	16419257	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:16419257G>A	ENST00000334133.4	-	5	1066	c.794C>T	c.(793-795)cCc>cTc	p.P265L	RFTN1_ENST00000432519.1_Missense_Mutation_p.P229L	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	265						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CACCTCCAAGGGGTTGCTCTC	0.547000													30	12					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969446	99969446	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:99969446C>T	ENST00000298999.3	+	5	1878	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	R3HCC1L_ENST00000370584.3_Silent_p.A525A|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		TAAGAACTGCCGAAGAGTTCA	0.423000													28	10					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35793339	35793339	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:35793339C>T	ENST00000440995.2	+	32	4618	c.4618C>T	c.(4618-4620)Cct>Tct	p.P1540S	SPEF2_ENST00000303129.4_Missense_Mutation_p.P342S|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1545S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1545					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACCTCAATGCCTTGGCCCAT	0.453000													31	31					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103766	168103766	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:168103766G>A	ENST00000409195.1	+	9	5953	c.5864G>A	c.(5863-5865)gGa>gAa	p.G1955E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1955E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1733E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1780					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGATGGCAGGATCCTCGGGA	0.428000													20	10					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181539	140181539	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:140181539G>A	ENST00000522353.2	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E253K|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATTACTCGAAAATGCACC	0.443000													7	32					0	0	1	0	0
GNPDA2	132789	broad.mit.edu	37	4	44709886	44709886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:44709886C>A	ENST00000509756.1	-	6	758	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	GNPDA2_ENST00000507917.1_Nonsense_Mutation_p.E184*|GNPDA2_ENST00000511187.1_5'UTR|GNPDA2_ENST00000507534.1_Nonsense_Mutation_p.E148*|GNPDA2_ENST00000295448.3_Nonsense_Mutation_p.E218*			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	218					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TTGACTCCTTCTTCTATTGCT	0.383000													9	19					2.17888e-05	2.20903e-05	1	1	0
BPIFB4	149954	broad.mit.edu	37	20	31678525	31678525	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:31678525C>T	ENST00000375483.3	+	8	1063	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	355						cytoplasm|extracellular region	lipid binding										TCTGATTCCTCTGGGGATATT	0.592000													23	21					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56765285	56765285	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:56765285G>A	ENST00000370754.5	-	3	350	c.351C>T	c.(349-351)atC>atT	p.I117I				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				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)			TGCTCTTCTTGATTCTTCGTT	0.468000													71	132					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82643599	82643599	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:82643599G>A	ENST00000533655.1	+	6	1431	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.D106N|C11orf82_ENST00000430323.2_Missense_Mutation_p.D407N|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	407					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAGTTCCCAGGATGGTGACCC	0.468000													55	103					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4694776	4694776	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:4694776G>A	ENST00000262960.9	-	13	1690	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	DPP9_ENST00000598800.1_Silent_p.L442L|DPP9_ENST00000597849.1_Silent_p.L471L|DPP9_ENST00000594671.1_Silent_p.L442L	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	442					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CATTGGCGCGGAGAAAGCAGA	0.542000													10	12					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801205	9801205	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:9801205C>T	ENST00000457674.2	-	5	1492	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTGTGATTTCGTATGTGTAT	0.418000													10	33					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408714	178408714	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:178408714C>T	ENST00000231188.5	-	10	2756	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T	GRM6_ENST00000517717.1_Missense_Mutation_p.A860T|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	860					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTGGAGGTGGCCTTGAGGCTC	0.607000													42	29					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61544786	61544786	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:61544786G>A	ENST00000278836.5	+	12	1737	c.1641G>A	c.(1639-1641)cgG>cgA	p.R547R	MYRF_ENST00000327797.1_Silent_p.R172R|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.R538R	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TGTGGCAGCGGGCACAGGTGC	0.652000													18	31					0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153573855	153573855	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:153573855G>A	ENST00000304385.3	-	2	520	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	TMEM154_ENST00000504064.1_Missense_Mutation_p.L97F	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	97						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TATGTTGCAAGGAATACCACG	0.318000													18	21					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444846	54444846	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:54444846G>A	ENST00000391767.1	+	5	759	c.547G>A	c.(547-549)Gct>Act	p.A183T	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.A183T|CACNG7_ENST00000222212.2_Missense_Mutation_p.A183T			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	183					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGCCTTCGCCGCTTCCTCCTT	0.537000													40	42					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149270450	149270450	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:149270450C>T	ENST00000407073.1	+	15	5422	c.4425C>T	c.(4423-4425)atC>atT	p.I1475I	MBD5_ENST00000404807.1_Silent_p.I1708I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1475						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TACACCAAATCCCACAGGGTG	0.418000													12	37					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128707715	128707715	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:128707715G>A	ENST00000265068.5	-	3	476	c.309C>T	c.(307-309)caC>caT	p.H103H	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_5'UTR|KIAA1257_ENST00000511438.1_Silent_p.H103H	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	103										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTGTTTTAGGGTGTTTCTTAT	0.363000													18	13					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57873154	57873154	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:57873154G>A	ENST00000381227.1	+	11	1803	c.1390G>A	c.(1390-1392)Gct>Act	p.A464T	POLR2B_ENST00000431623.2_Missense_Mutation_p.A389T|POLR2B_ENST00000314595.5_Missense_Mutation_p.A464T|POLR2B_ENST00000441246.2_Missense_Mutation_p.A457T			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	464					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCAAGCCAGAGCTGGAGTATC	0.378000													8	29					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345076	20345076	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:20345076C>T	ENST00000298642.2	+	1	686	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTATTTAATTCATATGTTATT	0.383000													62	172					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3627889	3627889	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:3627889C>T	ENST00000325418.4	+	1	679	c.660C>T	c.(658-660)tcC>tcT	p.S220S	ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	220					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										TCCCCTGCTCCCAGGAGGAAG	0.632000													38	68					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133249282	133249282	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:133249282G>A	ENST00000320574.5	-	15	1660	c.1617C>T	c.(1615-1617)taC>taT	p.Y539Y	POLE_ENST00000535270.1_Silent_p.Y512Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	539					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGCCCCCGACGTAGGTCTCAG	0.572000								DNA polymerases (catalytic subunits)					6	62					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100568857	100568857	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:100568857C>T	ENST00000358544.2	+	31	5111	c.5000C>T	c.(4999-5001)gCc>gTc	p.A1667V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A1642V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1667					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAATCCAGCCCTTGAGTGG	0.408000													7	15					0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63976876	63976876	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:63976876C>T	ENST00000260116.4	-	4	584		c.e4-1		TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein						lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GAAATGAATCCTTTTGAAAAT	0.294000													8	7					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538903	55538903	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:55538903C>T	ENST00000220676.1	+	4	2609	c.2461C>T	c.(2461-2463)Cat>Tat	p.H821Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	821					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGTTTATTTCATGTATTTAA	0.348000													11	17					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46331365	46331365	+	Silent	SNP	G	G	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:46331365G>T	ENST00000359930.4	-	4	1316	c.465C>A	c.(463-465)ccC>ccA	p.P155P	SULF2_ENST00000484875.1_Silent_p.P155P|SULF2_ENST00000467815.1_Silent_p.P155P|SULF2_ENST00000361612.4_Silent_p.P155P	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	155					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTTCCAGCCGGGTGGCACGT	0.537000													11	15					1.58986e-06	1.6231e-06	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35923264	35923264	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:35923264C>T	ENST00000490799.1	-	17	2250	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	SLC26A8_ENST00000394602.2_Missense_Mutation_p.D528N|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D633N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	633	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCTTCGGGATCCAGTTTATTT	0.473000													19	56					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308713	70308713	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:70308713C>A	ENST00000517649.1	-	4	320	c.30G>T	c.(28-30)gaG>gaT	p.E10D	NAIP_ENST00000194097.4_Missense_Mutation_p.E10D|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.E10D|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	10					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGGAGATCCTCTCGTCAGAGG	0.453000													22	6					2.54575e-18	2.6357e-18	1	1	0
HTT	3064	broad.mit.edu	37	4	3231699	3231699	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:3231699C>T	ENST00000355072.5	+	60	8340	c.8195C>T	c.(8194-8196)cCt>cTt	p.P2732L	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2732					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGGTGCACCCTTCAGAAGAC	0.547000													36	27					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70275875	70275875	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:70275875C>A	ENST00000377844.4	-	11	2965	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	KLHL1_ENST00000545028.1_Missense_Mutation_p.G543W	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	736					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGCTCTCCCAATATTCAAG	0.303000													4	16					0.0293803	0.0293803	1	1	0
KLHL25	64410	broad.mit.edu	37	15	86311959	86311959	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:86311959G>A	ENST00000337975.5	-	2	1357	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	KLHL25_ENST00000536947.1_Silent_p.Y361Y|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	361						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTACGGTGTCGTACACCCAGA	0.632000													6	28					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968469	2968469	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:2968469G>A	ENST00000342628.2	-	10	1854	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Missense_Mutation_p.R543W|FOXM1_ENST00000361953.3_Missense_Mutation_p.R528W	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	543					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CTCCGAGACCGGCTCCTCTCC	0.602000													6	67					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113771799	113771799	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:113771799G>A	ENST00000375581.3	+	8	729	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	F7_ENST00000346342.3_Missense_Mutation_p.V210M|F7_ENST00000541084.1_Missense_Mutation_p.V163M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	232	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCTGTTGTTGGTGAATGGAGC	0.562000													36	36					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27845736	27845736	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:27845736T>G	ENST00000318304.8	+	29	3240	c.2957T>G	c.(2956-2958)tTa>tGa	p.L986*	PPFIBP1_ENST00000537927.1_Nonsense_Mutation_p.L833*|PPFIBP1_ENST00000542629.1_Nonsense_Mutation_p.L955*|PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.L980*	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	986					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGCACATGTTAAAAGAAGAT	0.458000													5	29					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61012746	61012746	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:61012746C>T	ENST00000373867.3	-	13	1558	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	FAM13C_ENST00000442566.3_Missense_Mutation_p.D470N|FAM13C_ENST00000419214.2_Missense_Mutation_p.D351N|FAM13C_ENST00000373868.2_Missense_Mutation_p.D449N|FAM13C_ENST00000277705.6_Missense_Mutation_p.D469N|FAM13C_ENST00000435852.2_Missense_Mutation_p.D449N|FAM13C_ENST00000468840.2_Missense_Mutation_p.D366N	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	449										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCATCAGAGTCCTCTTCCTCC	0.463000													18	6					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17690148	17690148	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:17690148C>T	ENST00000375448.4	+	16	1916	c.1890C>T	c.(1888-1890)atC>atT	p.I630I		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	630					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCACCTTCATCAACGACTTCT	0.612000													8	23					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72306269	72306269	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:72306269C>T	ENST00000579490.1	+	10	1767	c.1632C>T	c.(1630-1632)acC>acT	p.T544T	DNAI2_ENST00000311014.6_Silent_p.T487T|DNAI2_ENST00000307504.5_Silent_p.T344T|DNAI2_ENST00000446837.2_Silent_p.T487T|DNAI2_ENST00000582036.1_Silent_p.T475T			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	487					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCTCTCTACCCTCCAGAGGA	0.642000									Kartagener syndrome				14	19					0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69625109	69625109	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:69625109C>T	ENST00000334134.2	-	3	774	c.684G>A	c.(682-684)tcG>tcA	p.S228S		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	228					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCCCAGTCTCGAAGCCTGAA	0.677000													3	10					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450656	155450656	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:155450656G>C	ENST00000461783.3	+	6	1572	c.299G>C	c.(298-300)gGg>gCg	p.G100A	TIAM2_ENST00000529824.2_Missense_Mutation_p.G100A|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.G100A|TIAM2_ENST00000318981.5_Missense_Mutation_p.G100A|TIAM2_ENST00000360366.4_Missense_Mutation_p.G100A			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	100					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AATGCCCCAGGGAAGGATTTC	0.547000													15	5					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846088	18846088	+	RNA	SNP	A	A	G	rs9605845		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr22:18846088A>G	ENST00000412938.1	+	0	3446																											CACCTCCTCCATGCCTCGGCG	0.627000													14	18					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82336140	82336140	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:82336140G>A	ENST00000329713.4	-	2	1506	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	357					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GCTGCAGCTCGGGGCAGCCGT	0.647000													25	38					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44104796	44104796	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:44104796G>A	ENST00000272286.2	+	12	1943	c.1853G>A	c.(1852-1854)gGg>gAg	p.G618E		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	618	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGCCTCTCGGGAACCTCACC	0.517000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	45					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4714224	4714224	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:4714224C>T	ENST00000263088.6	+	10	1119	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	PLD2_ENST00000572940.1_Missense_Mutation_p.R330W	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	330					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CGCCCCACCCCGGCCTGGGAC	0.617000													6	22					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306885	46306885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:46306885C>T	ENST00000357422.2	+	4	779	c.236C>T	c.(235-237)tCg>tTg	p.S79L	CCR3_ENST00000395942.2_Missense_Mutation_p.S79L|CCR3_ENST00000541018.1_Missense_Mutation_p.S79L|CCR3_ENST00000395940.2_Missense_Mutation_p.S79L|CCR3_ENST00000545097.1_Missense_Mutation_p.S100L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	79					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTGGCCATTTCGGACCTGCTC	0.512000													24	67					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256222	52256222	+	Missense_Mutation	SNP	G	G	A	rs145698725	byFrequency	TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:52256222G>A	ENST00000597542.1	-	9	3139	c.2182C>T	c.(2182-2184)Cgg>Tgg	p.R728W	TLR9_ENST00000494383.1_Missense_Mutation_p.P857L|TLR9_ENST00000360658.2_Missense_Mutation_p.R704W			Q9NR96	TLR9_HUMAN	toll-like receptor 9	704					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCCAGCCTCCGGAGCCGGGTG	0.627000													19	41					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	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				37	31					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254675	219254675	+	Missense_Mutation	SNP	C	C	T	rs143475636		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:219254675C>T	ENST00000233202.6	+	9	1218	c.878C>T	c.(877-879)tCc>tTc	p.S293F	SLC11A1_ENST00000539932.1_Missense_Mutation_p.S175F	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	293					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCGCCCTGTCCGTCTCCTTT	0.547000													16	12					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													3	15					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308714	70308714	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:70308714T>A	ENST00000517649.1	-	4	319	c.29A>T	c.(28-30)gAg>gTg	p.E10V	NAIP_ENST00000194097.4_Missense_Mutation_p.E10V|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.E10V|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	10					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAGATCCTCTCGTCAGAGGC	0.453000													21	6					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	163367	163367	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr18:163367C>T	ENST00000261601.6	+	2	167	c.76C>T	c.(76-78)Cca>Tca	p.P26S	USP14_ENST00000582707.1_Missense_Mutation_p.P26S|USP14_ENST00000383589.2_Missense_Mutation_p.P26S|USP14_ENST00000400266.3_Missense_Mutation_p.P26S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	26	Ubiquitin-like.				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGATGAACCTCCAATGGTATT	0.373000													14	12					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101286	80101286	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:80101286T>G	ENST00000466387.1	+	10	1394	c.670T>G	c.(670-672)Tct>Gct	p.S224A	CTNNA2_ENST00000496558.1_Missense_Mutation_p.S224A|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S224A|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S224A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S258A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S224A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	224					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTACACGGCCTCTCAAGCATT	0.562000													10	27					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39634676	39634676	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:39634676G>A	ENST00000265708.4	-	11	999	c.896C>T	c.(895-897)cCc>cTc	p.P299L	ADAM2_ENST00000347580.4_Missense_Mutation_p.P280L|ADAM2_ENST00000379853.2_Missense_Mutation_p.P173L|ADAM2_ENST00000521880.1_Missense_Mutation_p.P299L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	299	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TATGGTTCTGGGGTGCTGAGA	0.348000													24	24					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773887	157773887	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:157773887C>T	ENST00000358292.3	-	3	118	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	FCRL1_ENST00000368176.3_Missense_Mutation_p.A23T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.A23T	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	23	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAGGGGCTGGCTATCAAAAAC	0.483000													29	58					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20039669	20039669	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:20039669A>T	ENST00000400230.2	-	8	592	c.548T>A	c.(547-549)aTt>aAt	p.I183N	TPTE2_ENST00000457266.2_Missense_Mutation_p.I72N|TPTE2_ENST00000382978.1_Missense_Mutation_p.I143N|TPTE2_ENST00000382977.4_Missense_Mutation_p.I183N|TPTE2_ENST00000390680.2_Missense_Mutation_p.I106N|TPTE2_ENST00000255310.6_Missense_Mutation_p.I106N|TPTE2_ENST00000382975.4_Missense_Mutation_p.I143N|TPTE2_ENST00000400103.2_Missense_Mutation_p.I72N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	183						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCTTATCAGAATAATAAGTCG	0.299000													13	14					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383291	78383291	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:78383291T>C	ENST00000334785.7	+	3	252	c.68T>C	c.(67-69)gTa>gCa	p.V23A	NEXN_ENST00000294624.8_Missense_Mutation_p.V23A|NEXN_ENST00000330010.8_Intron|NEXN_ENST00000457030.1_Missense_Mutation_p.V23A	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	23					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAAACCTATGTACCAAAACTT	0.348000													5	18					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5545717	5545717	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:5545717C>T	ENST00000379019.4	-	15	1487	c.1275G>A	c.(1273-1275)gtG>gtA	p.V425V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	425	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						CCTCCTGAACCACAGATTCTG	0.333000													11	53					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126734107	126734107	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:126734107G>A	ENST00000393409.2	+	14	2958	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L	PLXNA1_ENST00000251772.4_Silent_p.L963L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	986	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GAAGCCACCTGAACGCAGGCA	0.667000													19	37					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31282366	31282366	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:31282366C>T	ENST00000544665.3	+	6	590	c.519C>T	c.(517-519)gtC>gtT	p.V173V	ITGAM_ENST00000287497.8_Silent_p.V173V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	173	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGAGTTTGTCTCAACTGTGA	0.512000													49	61					0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138416998	138416998	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr9:138416998G>A	ENST00000263598.2	+	6	586	c.526G>A	c.(526-528)Gat>Aat	p.D176N	LCN1_ENST00000371781.3_Missense_Mutation_p.D176N	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	176					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TCCAGGGAGCGATTAGGGTGA	0.577000													27	2					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118771535	118771535	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:118771535G>A	ENST00000376300.2	-	1	174	c.37C>T	c.(37-39)Ccg>Tcg	p.P13S	CCDC93_ENST00000319432.5_Missense_Mutation_p.P13S	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	13										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTACCTCCGGGAGACCCTGG	0.706000													4	5					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151231444	151231444	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:151231444T>C	ENST00000535741.1	-	52	8259	c.7786A>G	c.(7786-7788)Aac>Gac	p.N2596D	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.N2596D|LRBA_ENST00000357115.3_Missense_Mutation_p.N2607D			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2607						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATATAGCGGTTGTCTGAAGTG	0.393000													15	25					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	29					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47746167	47746167	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:47746167G>A	ENST00000263773.5	-	13	2184	c.2172C>T	c.(2170-2172)ccC>ccT	p.P724P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	724	Pro-rich.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggaggagggggtggaggtg	0.577000													8	36					0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113539266	113539266	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:113539266C>T	ENST00000263339.3	-	4	389	c.234G>A	c.(232-234)ggG>ggA	p.G78G		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	78					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TCAGAACCTTCCCGTTGGTTG	0.478000													35	50					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18554414	18554414	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:18554414G>A	ENST00000251296.1	+	2	476	c.93G>A	c.(91-93)gaG>gaA	p.E31E		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	31	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TCAACATTGAGCCTCTCCCCC	0.582000													48	43					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62235003	62235003	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:62235003C>T	ENST00000371158.2	+	5	547	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	INADL_ENST00000316485.6_Missense_Mutation_p.L145F	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	145	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACTGGAGGCCTTGGATTCAG	0.443000													29	35					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67940184	67940184	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:67940184C>T	ENST00000252336.6	+	7	2100	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	STARD8_ENST00000374599.3_Silent_p.I656I|STARD8_ENST00000374597.3_Silent_p.I576I	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	576	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CACCCCTCATCCACGTGCAGC	0.597000													13	3					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7504810	7504810	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:7504810G>A	ENST00000250113.7	-	7	911	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	193						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCACCCAGCAGAGATGCTCGC	0.493000													55	108					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70944551	70944551	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:70944551C>T	ENST00000357250.6	-	34	2363	c.2205G>A	c.(2203-2205)cgG>cgA	p.R735R	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.R492R|COL9A1_ENST00000320755.7_Silent_p.R492R|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	735	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCTGCACACCCCGGGGTCCAG	0.642000													4	15					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51759241	51759241	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:51759241C>T	ENST00000543196.2	-	4	992	c.787G>A	c.(787-789)Gag>Aag	p.E263K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E263K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	263	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGAGCACCTCCGCCTGTGCC	0.677000													27	23					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38061817	38061817	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:38061817C>T	ENST00000463876.1	-	2	477	c.124G>A	c.(124-126)Gcg>Acg	p.A42T	PLCD1_ENST00000334661.4_Missense_Mutation_p.A21T	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	21	PH.|Substrate binding (By similarity).				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTCAGCAGCGCCTGTAGATCC	0.562000													16	37					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													3	56					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27375673	27375673	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:27375673C>T	ENST00000296096.5	+	3	713	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	195					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCAAGTCCCTGGAGAGGC	0.542000													11	39					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11287481	11287481	+	Silent	SNP	T	T	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:11287481T>G	ENST00000432929.2	-	7	1917	c.1557A>C	c.(1555-1557)tcA>tcC	p.S519S	KANK2_ENST00000589359.1_Silent_p.S519S|KANK2_ENST00000355150.5_Silent_p.S511S|KANK2_ENST00000589894.1_Silent_p.S511S|KANK2_ENST00000586659.1_Silent_p.S511S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	511										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGTCCTCGGATGACGACTCAT	0.602000													8	34					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26883947	26883947	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:26883947G>A	ENST00000308360.7	-	9	1353	c.978C>T	c.(976-978)ctC>ctT	p.L326L	PIGS_ENST00000395346.2_Silent_p.L318L|PIGS_ENST00000543734.1_Silent_p.L265L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	326					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGGCACGTAGAGTAGAAAGT	0.532000													17	19					0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110407633	110407633	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:110407633G>A	ENST00000420978.2	+	2	1467	c.45G>A	c.(43-45)agG>agA	p.R15R	TSLP_ENST00000344895.3_Silent_p.R15R			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	15						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTCTTTCAGGAAAATCTTCA	0.408000													33	34					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234851231	234851231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:234851231C>T	ENST00000324695.4	+	6	578	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.L103F|TRPM8_ENST00000355722.4_Missense_Mutation_p.L130F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	180						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGCTTGGATTCTCACGGGAGG	0.493000													12	42					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395223	29395223	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:29395223C>T	ENST00000377149.1	-	5	668	c.196G>A	c.(196-198)Gcg>Acg	p.A66T	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.A66T|OR11A1_ENST00000377148.1_Missense_Mutation_p.A66T			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GACAGATTCGCCAAGAAAATA	0.458000													27	32					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	by1000genomes	TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:90161618C>T	ENST00000567960.1	+	0	354				TUBB8P7_ENST00000564451.1_RNA														p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607000													3	33					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138289886	138289886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:138289886G>A	ENST00000264982.3	-	5	540	c.274C>T	c.(274-276)Caa>Taa	p.Q92*	CEP70_ENST00000542237.1_Nonsense_Mutation_p.Q72*|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Nonsense_Mutation_p.Q92*|CEP70_ENST00000481834.1_Nonsense_Mutation_p.Q92*|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Nonsense_Mutation_p.Q92*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	92					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTAAGCTGTTGATTAGTTTCT	0.318000													7	23					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72313378	72313378	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:72313378C>T	ENST00000340595.3	+	6	1045	c.849C>T	c.(847-849)ctC>ctT	p.L283L	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.L327L|SLC4A4_ENST00000425175.1_Silent_p.L327L|SLC4A4_ENST00000351898.6_Silent_p.L327L|SLC4A4_ENST00000512686.1_Silent_p.L283L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	327						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGTTCATTCTCTTAGGTCCTA	0.408000													5	3					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42185662	42185662	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:42185662G>A	ENST00000320955.6	-	2	261	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000309874.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	12	Actin-binding.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCAGCCCCGAGGAGCTCCCGG	0.642000													8	6					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41605892	41605892	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:41605892G>A	ENST00000313860.7	+	5	399	c.344_splice	c.e5-1	p.K115_splice	LIMCH1_ENST00000512632.1_Splice_Site_p.K115_splice|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000508501.1_Splice_Site_p.K115_splice|LIMCH1_ENST00000512820.1_Splice_Site_p.K115_splice|LIMCH1_ENST00000512946.1_Splice_Site_p.K115_splice	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	115	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTTGACTAGGAGCCTTGATT	0.323000													12	15					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98552848	98552848	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:98552848C>T	ENST00000359863.4	+	40	6046	c.5837C>T	c.(5836-5838)aCc>aTc	p.T1946I	TRRAP_ENST00000446306.3_Missense_Mutation_p.T1927I|TRRAP_ENST00000355540.3_Missense_Mutation_p.T1928I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1946					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)			ACCCACTGGACCCGGAAGATC	0.622000													24	33					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455210	110455210	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:110455210C>T	ENST00000378402.5	+	36	4533	c.4429C>T	c.(4429-4431)Cat>Tat	p.H1477Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1477					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCTGGAATCCATTATTATAG	0.363000										HNSCC(38;0.096)			27	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976763	8976763	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:8976763G>A	ENST00000397910.4	-	73	42506	c.42303C>T	c.(42301-42303)tcC>tcT	p.S14101S	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Silent_p.S742S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14132	SEA 14.			Missing (in Ref. 3; AAK74120).	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						CCCCCTCGGTGGAGTTGAATG	0.562000													6	17					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686820	5686820	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:5686820T>C	ENST00000396847.3	-	7	1196	c.961A>G	c.(961-963)Aga>Gga	p.R321G	TRIM5_ENST00000380034.3_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000380027.1_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	0	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CATAAAATTCTAAAAGATAAA	0.373000											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	14					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952952	16952952	+	RNA	SNP	G	G	A	rs1762946	by1000genomes	TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:16952952G>A	ENST00000412962.1	-	0	664																											TCTGCCCTCAGCTTGGTCACG	0.622000													4	30					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96797060	96797060	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:96797060C>T	ENST00000371270.3	-	9	1392	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	CYP2C8_ENST00000535898.1_Missense_Mutation_p.R331Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	433					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.K432_G437delKRICAG(1)|p.R433Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCACAAATTCGTTTTCCTGA	0.363000													17	2					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114462430	114462430	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:114462430T>C	ENST00000513154.1	-	10	2247	c.1921A>G	c.(1921-1923)Aat>Gat	p.N641D	TRIM36_ENST00000514154.1_Missense_Mutation_p.N498D|TRIM36_ENST00000282369.3_Missense_Mutation_p.N653D			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	653	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCAGGTTCATTAGAAGAAGTA	0.368000													27	14					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154310052	154310052	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:154310052A>T	ENST00000368487.3	+	12	1253	c.1066A>T	c.(1066-1068)Agg>Tgg	p.R356W	ATP8B2_ENST00000426445.1_Intron|ATP8B2_ENST00000341822.2_Intron|ATP8B2_ENST00000368489.3_Intron	NM_001005855.1	NP_001005855.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	399					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGTCTCTCCAGGGAGTCAGG	0.468000													99	148					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982358	57982358	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:57982358T>A	ENST00000309433.6	+	1	142	c.142T>A	c.(142-144)Tac>Aac	p.Y48N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CTTGGGTATGTACCTGGTCAC	0.453000													32	110					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1574875	1574875	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:1574875G>A	ENST00000426508.2	-	23	3270	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G	IFT140_ENST00000361339.5_Silent_p.G163G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	969										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGTCCATCTCGCCCTGGCTCT	0.672000													4	44					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49405907	49405907	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:49405907G>A	ENST00000418115.1	-	3	615	c.231C>T	c.(229-231)acC>acT	p.T77T	RHOA_ENST00000422781.1_Silent_p.T77T|RHOA_ENST00000454011.2_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	77					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GTATAACATCGGTATCTGGGT	0.493000													42	32					0	0	1	0	0
HMGCL	3155	broad.mit.edu	37	1	24147024	24147024	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:24147024G>A	ENST00000374483.4	-	3	716	c.45C>T	c.(43-45)ccC>ccT	p.P15P	HMGCL_ENST00000374490.3_Silent_p.P40P|HMGCL_ENST00000436439.2_Silent_p.P40P|HMGCL_ENST00000509389.1_5'UTR			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	40					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GTCCATCTCGGGGACCAACTT	0.398000													22	14					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330388	128330388	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:128330388C>T	ENST00000368227.3	-	14	2586	c.2220G>A	c.(2218-2220)gtG>gtA	p.V740V	PTPRK_ENST00000368207.3_Silent_p.V740V|PTPRK_ENST00000532331.1_Silent_p.V740V|PTPRK_ENST00000368215.3_Silent_p.V739V|PTPRK_ENST00000368213.5_Silent_p.V740V|PTPRK_ENST00000368210.3_Silent_p.V740V|PTPRK_ENST00000368226.4_Silent_p.V740V|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	739					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)		GATCTGGGATCACTTCTGGTT	0.373000													24	50					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121492954	121492954	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:121492954G>A	ENST00000260197.7	+	45	6277	c.6148G>A	c.(6148-6150)Gaa>Aaa	p.E2050K	SORL1_ENST00000534286.1_Missense_Mutation_p.E960K|SORL1_ENST00000525532.1_Missense_Mutation_p.E994K|SORL1_ENST00000532694.1_Missense_Mutation_p.E896K|SORL1_ENST00000527934.1_Missense_Mutation_p.E665K	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2050	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCTTTAAAGGAAAAGCATTT	0.343000													23	10					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157364156	157364156	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:157364156G>A	ENST00000389413.3	-	19	2829	c.2726C>T	c.(2725-2727)tCt>tTt	p.S909F	PTPRN2_ENST00000389418.4_Missense_Mutation_p.S938F|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S900F|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S921F|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S961F	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	938	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TATTGGACAAGAACGGCCCCT	0.313000													25	52					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139603675	139603675	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:139603675C>T	ENST00000303045.6	-	64	5131	c.4685G>A	c.(4684-4686)gGa>gAa	p.G1562E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1542E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1562	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTGGGATTCCAGGGGGTCC	0.602000										HNSCC(7;0.00092)			12	15					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429105	57429105	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:57429105G>A	ENST00000371100.4	+	1	1337	c.785G>A	c.(784-786)aGt>aAt	p.S262N	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.V199M|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.S262N|GNAS_ENST00000371099.2_Missense_Mutation_p.S262N|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGGCCTCGAGTGCGGTCCGC	0.667000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			10	9					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659773	206659773	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:206659773C>T	ENST00000360409.3	+	17	3578	c.2787C>T	c.(2785-2787)tcC>tcT	p.S929S	NRP2_ENST00000540178.1_Silent_p.S924S|NRP2_ENST00000540841.1_Silent_p.S907S|NRP2_ENST00000412873.2_Silent_p.S907S|NRP2_ENST00000357785.5_Silent_p.S924S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	929					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGTGCTGCTCCGAGGCATGAC	0.493000													3	6					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440553	10440553	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:10440553C>T	ENST00000245503.5	-	16	2278	c.1894G>A	c.(1894-1896)Gga>Aga	p.G632R	MYH2_ENST00000397183.2_Missense_Mutation_p.G632R|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.G632R|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	632	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCATTACCTCCTTCAGCAGTT	0.438000													61	98					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773622	35773622	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:35773622G>A	ENST00000360215.1	+	1	552	c.175G>A	c.(175-177)Gca>Aca	p.A59T	LHFPL5_ENST00000373853.1_Missense_Mutation_p.A59T	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	59						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CACACCGCAGGCAGGCTACTT	0.607000													97	85					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841937	94841937	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:94841937G>A	ENST00000357742.4	+	1	443	c.443G>A	c.(442-444)gGg>gAg	p.G148E	MCTP2_ENST00000543482.1_Missense_Mutation_p.G148E|MCTP2_ENST00000451018.3_Missense_Mutation_p.G148E|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	148					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCCCTTGGAGGGGATGCACCA	0.532000													33	48					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467127	21467127	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:21467127C>T	ENST00000281523.2	-	6	1227	c.709G>A	c.(709-711)Gga>Aga	p.G237R		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	237						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTGCCACTTCCATTCCGGGCT	0.448000													18	26					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105936405	105936405	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:105936405G>A	ENST00000331320.7	+	21	2215	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	MTA1_ENST00000435036.2_Silent_p.K207K|MTA1_ENST00000406191.1_Silent_p.K655K|MTA1_ENST00000405646.1_Silent_p.K650K|RP11-521B24.5_ENST00000552675.1_RNA	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	667					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCCACAGGAAGATCCGCAAGC	0.701000													16	24					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702498	225702498	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:225702498G>A	ENST00000366844.2	-	7	1469	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	ENAH_ENST00000284563.6_Missense_Mutation_p.P587S|ENAH_ENST00000366843.2_Missense_Mutation_p.P340S	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	340	Pro-rich.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gggagtggaggaggtggaggg	0.687000													12	3					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522588	41522588	+	Silent	SNP	G	G	A	rs141626689		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:41522588G>A	ENST00000324071.4	+	9	1339	c.1332G>A	c.(1330-1332)gcG>gcA	p.A444A	CYP2B6_ENST00000330446.5_Silent_p.A244A|CYP2B6_ENST00000593831.1_Silent_p.A208A	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	444					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A444A(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TCGCCCGTGCGGAATTGTTCC	0.582000													10	28					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111648282	111648282	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:111648282C>T	ENST00000369680.4	-	6	606	c.358G>A	c.(358-360)Gac>Aac	p.D120N	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.D163N|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.D163N|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.D49N	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	120					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ATCAAGGGGTCCACACCAACC	0.498000													7	2					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103126682	103126682	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:103126682C>T	ENST00000428762.1	-	61	10104	c.9945G>A	c.(9943-9945)agG>agA	p.R3315R	RELN_ENST00000343529.5_Silent_p.R3315R|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Silent_p.R3315R|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3315					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGCTGCTTGCCTGATCTGAC	0.512000													30	40					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77423956	77423956	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:77423956G>A	ENST00000322886.7	-	10	1774	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	E2F7_ENST00000416496.2_Silent_p.S513S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	513					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CGTTCTGCATGGAGAATGCCT	0.522000													38	22					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56713271	56713271	+	Splice_Site	SNP	C	C	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:56713271C>G	ENST00000425394.2	-	23	3479	c.3102_splice	c.e23-1	p.V1035_splice	PAN2_ENST00000257931.5_Splice_Site_p.V1034_splice|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Splice_Site_p.V1035_splice|PAN2_ENST00000440411.3_Splice_Site_p.V1031_splice	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1035	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAATCCACCACCTAGGAATAG	0.453000													23	56					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133014418	133014418	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:133014418G>A	ENST00000367928.4	-	4	584	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	191	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GGCTCCTTGGGTACATTGAAT	0.368000													28	22					0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190967844	190967844	+	Silent	SNP	A	A	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:190967844A>G	ENST00000339051.1	+	3	336	c.336A>G	c.(334-336)ccA>ccG	p.P112P	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	112					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TAGATCATCCAAAAAGGCGAT	0.348000													14	47					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327897	52327897	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:52327897C>A	ENST00000339223.4	+	2	1075	c.896C>A	c.(895-897)cCa>cAa	p.P299Q	FPR3_ENST00000595991.1_Missense_Mutation_p.P299Q	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	299					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGCCTCAACCCAATTCTCTAC	0.458000													25	97					1.42536e-11	1.46537e-11	1	1	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021151	46021151	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr21:46021151G>A	ENST00000380102.2	+	1	655	c.630G>A	c.(628-630)acG>acA	p.T210T	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTCCTGCACGCCCTCGTGCT	0.667000													4	93					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291192	141291192	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:141291192G>A	ENST00000247452.3	-	3	929	c.582C>T	c.(580-582)ggC>ggT	p.G194G		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	194	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGCAAGGCCAAAAAGAA	0.488000										HNSCC(46;0.14)			73	10					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882898	42882898	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:42882898G>A	ENST00000426548.1	-	3	557	c.288C>T	c.(286-288)atC>atT	p.I96I	GJC1_ENST00000592524.1_Silent_p.I96I|GJC1_ENST00000330514.4_Silent_p.I96I|GJC1_ENST00000590758.1_Silent_p.I96I	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	96					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CAATCTTGTGGATAGCATAGC	0.522000													58	55					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352644	20352644	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:20352644C>T	ENST00000396134.2	-	8	1568	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	UMOD_ENST00000396138.4_Missense_Mutation_p.R498K|UMOD_ENST00000396142.2_Missense_Mutation_p.R449K|UMOD_ENST00000302509.4_Missense_Mutation_p.R449K|UMOD_ENST00000570689.1_Missense_Mutation_p.R449K|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.R482K	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	449	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCCGCCCACTCTGATGTTTAG	0.587000													23	21					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261439	131261439	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:131261439C>T	ENST00000512055.1	-	19	3627	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	CPNE4_ENST00000511604.1_Missense_Mutation_p.D501N|CPNE4_ENST00000502818.1_Missense_Mutation_p.D519N|CPNE4_ENST00000512332.1_Missense_Mutation_p.D519N|CPNE4_ENST00000429747.1_Missense_Mutation_p.D501N			Q96A23	CPNE4_HUMAN	copine IV	501	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGACGATGTCTCGAAGAACA	0.512000													12	35					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106207967	106207967	+	RNA	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:106207967G>A	ENST00000390548.2	-	0	835																											GTCCAGCACGGGAGGCGTGGT	0.597000													53	102					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314209	153314209	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:153314209G>A	ENST00000368739.3	-	6	865	c.507C>T	c.(505-507)atC>atT	p.I169I	PGLYRP4_ENST00000359650.5_Silent_p.I173I			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	173					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCATAGGTGATTAGGTTTT	0.562000													54	47					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40825199	40825199	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:40825199G>A	ENST00000293349.6	-	6	1194	c.764C>T	c.(763-765)gCc>gTc	p.A255V	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A255V|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.A255V|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	255	MyTH4.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTCACCTGGGGCGCTGACTCC	0.572000													19	76					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8661680	8661680	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:8661680G>A	ENST00000317371.4	-	19	2161	c.936C>T	c.(934-936)atC>atT	p.I312I	SSUH2_ENST00000341795.3_Silent_p.I312I|SSUH2_ENST00000544814.1_Silent_p.I334I|SSUH2_ENST00000415132.1_3'UTR					ssu-2 homolog (C. elegans)																		CTGTGAGGGGGATCAGCTCAA	0.483000													27	17					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522589	41522589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:41522589G>A	ENST00000324071.4	+	9	1340	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	CYP2B6_ENST00000330446.5_Missense_Mutation_p.E245K|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E209K	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	445					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGCCCGTGCGGAATTGTTCCT	0.582000													11	28					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519975	169519975	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:169519975G>A	ENST00000367796.3	-	9	1500	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	F5_ENST00000546081.1_Silent_p.I296I|F5_ENST00000367797.3_Silent_p.I433I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	433	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTTGAACACGATCTACAAAG	0.378000													31	26					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63660937	63660937	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:63660937G>A	ENST00000409120.1	-	3	3741	c.191C>T	c.(190-192)tCt>tTt	p.S64F	WDPCP_ENST00000409199.1_Missense_Mutation_p.S64F|WDPCP_ENST00000272321.7_Missense_Mutation_p.S256F|WDPCP_ENST00000409562.3_Missense_Mutation_p.S256F|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Missense_Mutation_p.S97F			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	256					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTTCTCAGAAGAAATGGGGGC	0.423000													8	18					0	0	1	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043216	153043216	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:153043216C>T	ENST00000341611.2	-	2	162	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SPRR2B_ENST00000368752.4_Missense_Mutation_p.E34K|SPRR2B_ENST00000368755.2_Missense_Mutation_p.E34K	NM_001017418.1	NP_001017418.1	P35325	SPR2B_HUMAN	small proline-rich protein 2B	34	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCAGGGCTCAGGGCACTTC	0.612000													56	46					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115950	145115950	+	RNA	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:145115950G>A	ENST00000453618.1	+	0	1036							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ATATTTTCAGGAAACTGAGCT	0.408000													8	87					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158485773	158485773	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:158485773G>A	ENST00000355585.4	+	10	1425	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G	SYNJ2_ENST00000367121.3_Silent_p.G450G|SYNJ2_ENST00000367122.2_Silent_p.G450G|SYNJ2_ENST00000449859.2_Silent_p.G378G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	450							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCTGGAAGGGAAGGCCAAGG	0.657000													24	62					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094130	30094130	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:30094130T>A	ENST00000279387.7	+	5	433	c.265T>A	c.(265-267)Tat>Aat	p.Y89N	PPP4C_ENST00000561610.1_Missense_Mutation_p.Y89N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	89					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CCGTGGCTTCTATAGCGTCGA	0.587000													32	37					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46331366	46331366	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:46331366G>A	ENST00000359930.4	-	4	1315	c.464C>T	c.(463-465)cCc>cTc	p.P155L	SULF2_ENST00000484875.1_Missense_Mutation_p.P155L|SULF2_ENST00000467815.1_Missense_Mutation_p.P155L|SULF2_ENST00000361612.4_Missense_Mutation_p.P155L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	155					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTTCCAGCCGGGTGGCACGTA	0.537000													11	15					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55620477	55620477	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:55620477G>A	ENST00000370830.3	-	7	1917	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	BMP5_ENST00000446683.2_Missense_Mutation_p.H370Y	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	407					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AACATCAGATGAACCTGGGAA	0.333000													15	55					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80039897	80039897	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:80039897C>T	ENST00000306749.2	-	36	6369	c.6151G>A	c.(6151-6153)Gaa>Aaa	p.E2051K	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2051	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGAGGCCTTCGTGCCGGCGT	0.672000													3	30					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75316930	75316930	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:75316930C>T	ENST00000434603.2	-	3	1303	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A	MAP6_ENST00000526740.1_Silent_p.A84A|MAP6_ENST00000304771.3_Silent_p.A413A	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	413						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TCGGGCCCTCCGCGCTCTTTT	0.522000													35	74					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62292756	62292756	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:62292756C>T	ENST00000318100.4	+	3	1035	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_Missense_Mutation_p.R70C|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R70C|RTEL1_ENST00000370018.3_Missense_Mutation_p.R70C|RTEL1_ENST00000508582.2_Missense_Mutation_p.R70C			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	70	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATCTCTGCCCGCAAGATTGC	0.637000													15	25					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25399880	25399880	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:25399880G>A	ENST00000255324.5	+	16	2267	c.2215G>A	c.(2215-2217)Gat>Aat	p.D739N	RNF17_ENST00000381921.1_Missense_Mutation_p.D739N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	739	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAAATTTGAAGATGGAATTTG	0.373000													19	56					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31705658	31705658	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:31705658C>T	ENST00000396556.2	-	11	2285	c.2163G>A	c.(2161-2163)aaG>aaA	p.K721K	OSBPL10_ENST00000438237.2_Silent_p.K657K	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	721					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CCAGGTGCCGCTTCTGCTCGG	0.607000													66	39					0	0	1	0	0
C3orf27	23434	broad.mit.edu	37	3	128292237	128292237	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:128292237G>A	ENST00000356020.2	-	3	1302	c.336C>T	c.(334-336)acC>acT	p.T112T		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	112										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GGGAGGGAGGGGTGAGGAAAG	0.572000													13	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089089	9089089	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:9089089G>A	ENST00000397910.4	-	1	2929	c.2726C>T	c.(2725-2727)gCt>gTt	p.A909V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	909	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						AGAGAACTGAGCTGAACGTGT	0.512000													12	9					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360570	182360570	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:182360570G>A	ENST00000397033.2	+	14	1876	c.1446G>A	c.(1444-1446)acG>acA	p.T482T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	482					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAATAGAACGAAATTTGACT	0.388000													21	42					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510565	48510565	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:48510565C>T	ENST00000446524.1	+	1	297	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TATTCTTCATCCATTTCCCCC	0.428000													5	41					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13394150	13394150	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:13394150C>T	ENST00000360228.5	-	22	3752	c.3753G>A	c.(3751-3753)atG>atA	p.M1251I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M1252I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1252					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCAATGACCATGAGGATGC	0.602000													20	14					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42052717	42052717	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:42052717T>A	ENST00000219905.7	+	20	7569	c.7388T>A	c.(7387-7389)aTt>aAt	p.I2463N	MGA_ENST00000570161.1_Missense_Mutation_p.I2463N|MGA_ENST00000566586.1_Missense_Mutation_p.I2254N|MGA_ENST00000545763.1_Missense_Mutation_p.I2254N|MGA_ENST00000389936.4_Missense_Mutation_p.I2424N	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2424						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAAAGTCTCATTCTTACTCGA	0.408000													21	24					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50657146	50657146	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr22:50657146C>T	ENST00000248846.5	-	21	4911	c.4807G>A	c.(4807-4809)Gag>Aag	p.E1603K	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1603					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TACCTGAGCTCCAGGCAGCTC	0.687000													25	3					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287330	202287330	+	Silent	SNP	A	A	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:202287330A>C	ENST00000367278.3	+	18	1988	c.1899A>C	c.(1897-1899)ggA>ggC	p.G633G	LGR6_ENST00000439764.2_Silent_p.G494G|LGR6_ENST00000255432.7_Silent_p.G581G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	633						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGAGTACGGAGCCCGCTGGG	0.622000													9	18					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76476804	76476804	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:76476804G>A	ENST00000389840.5	-	49	7796	c.7672C>T	c.(7672-7674)Ccc>Tcc	p.P2558S	DNAH17_ENST00000585328.1_Missense_Mutation_p.P2567S|DNAH17_ENST00000586052.1_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCGGAAGTGGGGTTCATGCAG	0.507000													5	21					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33513521	33513521	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:33513521G>A	ENST00000360596.2	+	15	1889	c.1678G>A	c.(1678-1680)Ggc>Agc	p.G560S	ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000253382.5_Missense_Mutation_p.G573S|ACSS2_ENST00000336325.4_Missense_Mutation_p.G510S	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	560					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGACCAGGATGGCTATTACTG	0.483000													5	8					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875536	247875536	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:247875536G>A	ENST00000302084.2	-	1	569	c.522C>T	c.(520-522)atC>atT	p.I174I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAAGTGGTTGATGGCACGGG	0.592000													71	52					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131329157	131329157	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr9:131329157C>T	ENST00000372739.3	+	2	248	c.138C>T	c.(136-138)ttC>ttT	p.F46F	SPTAN1_ENST00000372731.4_Silent_p.F46F|SPTAN1_ENST00000358161.5_Silent_p.F46F	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	46					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTATCGATTCCAGTTCTTTC	0.473000													12	9					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62292755	62292755	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:62292755C>T	ENST00000318100.4	+	3	1034	c.207C>T	c.(205-207)gcC>gcT	p.A69A	RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_Silent_p.A69A|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A69A|RTEL1_ENST00000370018.3_Silent_p.A69A|RTEL1_ENST00000508582.2_Silent_p.A69A			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	69	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCATCTCTGCCCGCAAGATTG	0.632000													15	24					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108608605	108608605	+	Silent	SNP	A	A	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:108608605A>T	ENST00000264047.2	+	3	498	c.222A>T	c.(220-222)gcA>gcT	p.A74A	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Silent_p.A74A	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	74					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAGCTGAAGCAGTTTATGTAC	0.438000													4	21					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54417819	54417819	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:54417819G>A	ENST00000391767.1	+	3	474	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Missense_Mutation_p.E88K|CACNG7_ENST00000222212.2_Missense_Mutation_p.E88K			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	88					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TTTGGTGACGGAAAACACGGA	0.547000													7	20					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169566395	169566395	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:169566395G>A	ENST00000263686.6	-	11	1762	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	SELP_ENST00000367793.2_Silent_p.L513L|SELP_ENST00000367792.2_Intron|SELP_ENST00000367788.2_Silent_p.L513L|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Silent_p.L513L|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Silent_p.L513L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	575	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTGGGGCAAAGAGTTCTGGGC	0.438000													8	22					0	0	1	0	0
CAMP	820	broad.mit.edu	37	3	48265928	48265928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:48265928G>A	ENST00000296435.2	+	2	451	c.295G>A	c.(295-297)Gat>Aat	p.D99N	CAMP_ENST00000576243.1_Missense_Mutation_p.D96N	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	96					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTCACCAGAGGATTGTGACTT	0.597000													5	18					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784546	143784546	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:143784546C>T	ENST00000519387.1	+	3	637	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	LY6K_ENST00000561179.1_Silent_p.C143C|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000292430.6_Silent_p.C85C|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000522591.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	0	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGAAGCAGTGCTCCGCTGGTT	0.488000													12	28					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723904	39723904	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:39723904C>T	ENST00000246662.4	-	7	1558	c.1493G>A	c.(1492-1494)gGt>gAt	p.G498D	KRT9_ENST00000588431.1_Missense_Mutation_p.G265D	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	498	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				tcctcctccaccatagctgcc	0.577000													13	6					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263520	75263520	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:75263520G>A	ENST00000546196.1	-	7	4067	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A	BCAR1_ENST00000162330.5_Silent_p.A834A|BCAR1_ENST00000542031.2_Silent_p.A832A|BCAR1_ENST00000393420.6_Silent_p.A852A|BCAR1_ENST00000535626.2_Silent_p.A686A|BCAR1_ENST00000538440.2_Silent_p.A834A|BCAR1_ENST00000418647.3_Silent_p.A880A|BCAR1_ENST00000420641.3_Silent_p.A852A|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Silent_p.A852A			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	834					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTACTGCAAGGCAGCGGCCT	0.682000													4	15					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354506	42354506	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:42354506G>A	ENST00000596827.1	+	7	968	c.882G>A	c.(880-882)agG>agA	p.R294R	DMRTC2_ENST00000269945.3_Intron			Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GAAAAAGCAGGAAACTGAAGG	0.597000													41	27					0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28141911	28141911	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:28141911G>A	ENST00000316334.3	-	4	850	c.721C>T	c.(721-723)Cct>Tct	p.P241S		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	241	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TGAATGTAAGGATTGGACCGA	0.433000													15	23					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98552849	98552849	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:98552849C>T	ENST00000359863.4	+	40	6047	c.5838C>T	c.(5836-5838)acC>acT	p.T1946T	TRRAP_ENST00000446306.3_Silent_p.T1927T|TRRAP_ENST00000355540.3_Silent_p.T1928T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1946					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)			CCCACTGGACCCGGAAGATCA	0.622000													23	33					0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49993751	49993751	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:49993751C>T	ENST00000391857.4	+	4	250	c.174C>T	c.(172-174)ctC>ctT	p.L58L	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	58					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TGGCTTTCCTCCGCAAGCGGA	0.632000													14	20					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884746	117884746	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:117884746C>T	ENST00000439649.3	-	5	1108	c.741G>A	c.(739-741)acG>acA	p.T247T	GFRA1_ENST00000355422.6_Silent_p.T252T|GFRA1_ENST00000369236.1_Silent_p.T247T|GFRA1_ENST00000544592.1_Silent_p.T131T	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	252					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AGATGTAATTCGTCTTGCAGG	0.547000													16	7					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40758302	40758302	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:40758302C>T	ENST00000561234.1	+	7	2572	c.2313C>T	c.(2311-2313)caC>caT	p.H771H	BAHD1_ENST00000416165.1_Silent_p.H772H|BAHD1_ENST00000560846.1_Silent_p.H769H|RP11-64K12.8_ENST00000559730.1_RNA			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	772	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACTTCCGCCACGGGCGCATCC	0.632000													31	75					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995321	140995321	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:140995321C>T	ENST00000285879.4	+	4	2417	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	711							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)					TCTCCATTTTCCTCAGAGTCC	0.557000										HNSCC(15;0.026)			72	7					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808062	86808062	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:86808062G>A	ENST00000441037.2	+	10	1617	c.1522G>A	c.(1522-1524)Gtc>Atc	p.V508I	AGBL1_ENST00000421325.2_Missense_Mutation_p.V508I|AGBL1_ENST00000389298.3_Missense_Mutation_p.V239I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	508					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AAAATGTGGAGTCCAAAGGTG	0.433000													17	24					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71025513	71025513	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:71025513G>A	ENST00000354624.5	+	17	2678	c.2545G>A	c.(2545-2547)Ggg>Agg	p.G849R	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	849					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGAAGACCAGGGGCTAGAGCA	0.652000													14	5					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151787772	151787772	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:151787772C>T	ENST00000356728.6	-	4	519	c.365G>A	c.(364-366)gGa>gAa	p.G122E	RORC_ENST00000318247.6_Missense_Mutation_p.G143E|RORC_ENST00000392697.3_Missense_Mutation_p.G197E	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	143	Hinge (Potential).|Poly-Gln.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTATCTGCTCCTTGGGCCCC	0.647000													11	21					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55872986	55872986	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:55872986C>T	ENST00000388975.3	-	9	1200	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	362					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTCTTTCTCCTTGACTCGC	0.338000													16	18					0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49993752	49993752	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:49993752C>T	ENST00000391857.4	+	4	251	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	59					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGCTTTCCTCCGCAAGCGGAT	0.632000													14	20					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822696	26822696	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:26822696G>A	ENST00000444914.3	+	10	1899	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	SLC13A2_ENST00000314669.5_Silent_p.L444L|SLC13A2_ENST00000545060.1_Silent_p.L401L|SLC13A2_ENST00000537681.1_Silent_p.L373L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	444						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGAGTGGCTGGGAAACAAGC	0.622000													41	58					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393288	164393288	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:164393288G>A	ENST00000280605.3	-	1	1759	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	533						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGATGACACGGACAGAAATAC	0.493000													32	73					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23854227	23854227	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:23854227C>T	ENST00000405093.3	-	35	5257	c.5187G>A	c.(5185-5187)aaG>aaA	p.K1729K	MYH6_ENST00000356287.3_Silent_p.K1729K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1729					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCATCTTCTTCTTCTGGTTGA	0.483000													30	39					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31478085	31478085	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:31478085C>T	ENST00000408912.3	+	8	3285	c.2968C>T	c.(2968-2970)Ccg>Tcg	p.P990S	ARMC5_ENST00000268314.4_Missense_Mutation_p.P895S|ARMC5_ENST00000563544.1_Missense_Mutation_p.P895S|ARMC5_ENST00000538189.1_Missense_Mutation_p.P927S|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.P539S			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	895							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAGCAGTGCCCGAGGAAGCG	0.697000													3	8					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13916475	13916475	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:13916475G>A	ENST00000265104.4	-	9	1283	c.1179C>T	c.(1177-1179)atC>atT	p.I393I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	393	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAGATGTGATCTTCTCAG	0.303000									Kartagener syndrome				15	14					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666697	12666697	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:12666697C>T	ENST00000425538.1	+	14	2897	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	MYOCD_ENST00000343344.4_Silent_p.F851F|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	851					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAGACCTCTTCAATGCACATG	0.483000													14	18					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568701	49568701	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:49568701G>A	ENST00000545947.1	+	6	1479	c.757G>A	c.(757-759)Gag>Aag	p.E253K	DAG1_ENST00000308775.2_Missense_Mutation_p.E253K|DAG1_ENST00000541308.1_Missense_Mutation_p.E253K|DAG1_ENST00000539901.1_Missense_Mutation_p.E253K|DAG1_ENST00000538711.1_Missense_Mutation_p.E253K|DAG1_ENST00000515359.2_Missense_Mutation_p.E253K	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	253	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAAGGTGGTGGAGAATGGGGC	0.537000													18	15					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012480	99012480	+	Silent	SNP	C	C	A	rs104893613		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:99012480C>A	ENST00000393504.1	+	8	1264	c.847C>A	c.(847-849)Cgg>Agg	p.R283R	CNGA3_ENST00000272602.2_Silent_p.R283R|CNGA3_ENST00000436404.2_Silent_p.R265R|CNGA3_ENST00000409937.1_Silent_p.R287R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	283			R -> Q (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature).|R -> W (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAAGTTTTCCCGGCTCTTTGA	0.493000													11	23					0.00829132	0.00831971	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56531793	56531793	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:56531793A>C	ENST00000390649.3	+	6	675	c.675A>C	c.(673-675)gaA>gaC	p.E225D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	225						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)		AGACAGAAGAACAAGGTGAGG	0.388000													9	23					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766962	57766962	+	Silent	SNP	A	A	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:57766962A>G	ENST00000371030.2	+	1	888	c.888A>G	c.(886-888)caA>caG	p.Q296Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	296						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGCACACAACCCTGGCGTA	0.687000													31	68					0	0	1	0	0
GCHFR	2644	broad.mit.edu	37	15	41058048	41058048	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:41058048C>T	ENST00000558467.1	+	1	231	c.9C>T	c.(7-9)ggC>ggT	p.G3G	GCHFR_ENST00000559932.1_Silent_p.G3G|GCHFR_ENST00000559445.1_Intron|GCHFR_ENST00000260447.4_Silent_p.G20G|GCHFR_ENST00000558670.1_Intron|GCHFR_ENST00000561160.1_Silent_p.G20G			P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	20					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTATGGTGGGCGATGAACAGT	0.577000													5	8					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793017	140793017	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:140793017G>T	ENST00000398610.2	+	1	275	c.275G>T	c.(274-276)gGc>gTc	p.G92V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACCGCGGGCAGGATAGAC	0.597000													22	77					3.83957e-06	3.90623e-06	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76476805	76476805	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:76476805G>A	ENST00000389840.5	-	49	7795	c.7671C>T	c.(7669-7671)aaC>aaT	p.N2557N	DNAH17_ENST00000585328.1_Silent_p.N2566N|DNAH17_ENST00000586052.1_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGAAGTGGGGTTCATGCAGG	0.512000													5	21					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864232	153864232	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:153864232C>T	ENST00000511601.1	+	2	211	c.23C>T	c.(22-24)tCc>tTc	p.S8F	FHDC1_ENST00000260008.3_Missense_Mutation_p.S8F			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	8					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AATTGTGTCTCCTTGGTCAGT	0.458000													24	28					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40652809	40652809	+	Silent	SNP	C	C	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:40652809C>T	ENST00000343619.4	+	16	1887	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	ATP6V0A1_ENST00000264649.6_Silent_p.I595I|ATP6V0A1_ENST00000393829.2_Silent_p.I588I|ATP6V0A1_ENST00000585525.1_Silent_p.I545I|ATP6V0A1_ENST00000546249.1_Silent_p.I588I|ATP6V0A1_ENST00000544137.1_Silent_p.I234I|ATP6V0A1_ENST00000537728.1_Silent_p.I545I	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	588					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		ATTTGGTTATCCTTATTTTTT	0.383000													21	113					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816398	1816398	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:1816398C>G	ENST00000250894.4	+	22	2961	c.2804C>G	c.(2803-2805)cCc>cGc	p.P935R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P929R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	935					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCTCTGGCCCCCAGCCTGGC	0.697000													13	20					0	0	1	0	0
YIPF5	81555	broad.mit.edu	37	5	143545126	143545126	+	Silent	SNP	G	G	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:143545126G>A	ENST00000274496.5	-	3	287	c.153C>T	c.(151-153)gtC>gtT	p.V51V	YIPF5_ENST00000513112.1_5'UTR|YIPF5_ENST00000448443.2_Silent_p.V51V	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	51					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGTCTGGAGGGACAAATCTGC	0.423000													14	39					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59533898	59533898	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:59533898delC	ENST00000393853.4	+	2	210	c.47delC	c.(46-48)gcfs	p.A16fs	TBX4_ENST00000240335.1_Frame_Shift_Del_p.A16fs			P57082	TBX4_HUMAN	T-box 4	16					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCTTCCGGGCCCCGGGCCCA	0.736													2	4	---	---	---	---					
AP2A1	160	broad.mit.edu	37	19	50308808	50308808	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:50308808delC	ENST00000354293.5	+	19	2609	c.2443delC	c.(2443-2445)ccfs	p.P816fs	AP2A1_ENST00000359032.5_Frame_Shift_Del_p.P838fs	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	838					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CTTCCTGACGCCCCCGCTGCT	0.706													2	4	---	---	---	---					
MAVS	57506	broad.mit.edu	37	20	3844977	3844978	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:3844977_3844978insC	ENST00000428216.2	+	6	828_829	c.700_701insC	c.(700-702)cccfs	p.P234fs	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Frame_Shift_Ins_p.P93fs	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	234					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCGTTCCACCCCCAGGGCA	0.629													38	54	---	---	---	---					
ZMYM3	9203	broad.mit.edu	37	X	70469363	70469363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:70469363delT	ENST00000373998.1	-	7	2115	c.1418delA	c.(1417-1419)ggfs	p.E473fs	ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.E473fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.E475fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.E473fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.E473fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.E475fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.E475fs|ZMYM3_ENST00000373978.1_3'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	473					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGTTGGCCCTCGTGGAAGAG	0.582													2	4	---	---	---	---					
