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
KLK6	5653	broad.mit.edu	37	19	51462453	51462453	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:51462453C>T	ENST00000376853.4	-	3	327	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	KLK6_ENST00000376851.3_Silent_p.T234T|KLK6_ENST00000310157.2_Silent_p.T234T|KLK6_ENST00000594641.1_Silent_p.T234T|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Silent_p.T127T|KLK6_ENST00000391808.1_Silent_p.T127T			Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	0	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGATCCAGTTCGTGTATCTGC	0.537000													64	100					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60585321	60585321	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:60585321C>T	ENST00000406854.1	+	7	2407	c.1853C>T	c.(1852-1854)gCc>gTc	p.A618V	PCNXL4_ENST00000317623.4_Missense_Mutation_p.A384V|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A384V|PCNXL4_ENST00000404681.2_Missense_Mutation_p.A618V					pecanex-like 4 (Drosophila)																		GGCACCACAGCCTGTGTGTGT	0.512000													16	23					0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52188633	52188633	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:52188633C>T	ENST00000308580.7	+	7	926	c.645C>T	c.(643-645)acC>acT	p.T215T	TMOD3_ENST00000544199.1_Silent_p.T215T|RP11-56B16.5_ENST00000558142.1_RNA	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	215						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		CAATTCCAACCCTAAAAGATT	0.333000													25	60					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151130975	151130975	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:151130975C>T	ENST00000370325.1	-	4	536	c.483G>A	c.(481-483)aaG>aaA	p.K161K	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.K161K			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	161					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGGTCCTCTTAGAATTCC	0.488000													49	52					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9017204	9017204	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:9017204G>A	ENST00000344836.4	-	3	449	c.251C>T	c.(250-252)tCg>tTg	p.S84L	USP7_ENST00000381886.4_Missense_Mutation_p.S68L|USP7_ENST00000566224.1_5'UTR|USP7_ENST00000535863.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	84	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCTAAGGACCGACTCACTCAG	0.498000													31	58					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56114910	56114910	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:56114910C>T	ENST00000288221.6	-	7	1831	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	526						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCACGAATTTCACCGGCCAGT	0.398000													15	17					0	0	1	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.136_splice	c.e3-1	p.G46_splice	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													8	32					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68939683	68939683	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:68939683G>A	ENST00000356291.2	-	4	386	c.327C>T	c.(325-327)atC>atT	p.I109I	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	109	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CATGAGATTTGATAAATCGAC	0.274000													10	3					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60581743	60581743	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:60581743C>T	ENST00000406854.1	+	4	1475	c.921C>T	c.(919-921)ttC>ttT	p.F307F	PCNXL4_ENST00000317623.4_Silent_p.F73F|PCNXL4_ENST00000406949.1_Silent_p.F73F|PCNXL4_ENST00000404681.2_Silent_p.F307F					pecanex-like 4 (Drosophila)																		CATCATATTTCATTCCAAGCA	0.328000													24	25					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123317444	123317444	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:123317444C>T	ENST00000296513.2	+	7	821	c.636C>T	c.(634-636)atC>atT	p.I212I	ADAD1_ENST00000388725.2_Silent_p.I194I|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Silent_p.I212I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	212					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCACAGATCGTTAAAGAAA	0.308000													18	29					0	0	1	0	0
RPS6	6194	broad.mit.edu	37	9	19379559	19379559	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:19379559G>A	ENST00000380384.1	-	0	645				RPS6_ENST00000380394.4_Missense_Mutation_p.R22C|RPS6_ENST00000315377.4_De_novo_Start_OutOfFrame|RPS6_ENST00000380381.3_Missense_Mutation_p.R22C			P62753	RS6_HUMAN	ribosomal protein S6						endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CGAAGTTTGCGTTCATCGTCC	0.443000													37	57					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804348	75804348	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:75804348C>T	ENST00000550916.1	+	2	416	c.369C>T	c.(367-369)ggC>ggT	p.G123G	GLIPR1L2_ENST00000435775.1_Silent_p.G123G|GLIPR1L2_ENST00000378692.3_Silent_p.G16G|GLIPR1L2_ENST00000547164.1_Silent_p.G123G|GLIPR1L2_ENST00000441218.1_Silent_p.G58G|GLIPR1L2_ENST00000320460.4_Silent_p.G123G	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	123						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TGTGGGTCGGCCCTGAAAATG	0.348000													28	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179566258	179566258	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:179566258C>T	ENST00000589042.1	-	110	30819	c.30595G>A	c.(30595-30597)Gaa>Aaa	p.E10199K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9882K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8955K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9882	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTACCTTCTGGTGGCACT	0.458000													10	42					0	0	1	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6797468	6797468	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:6797468G>A	ENST00000403107.1	+	2	547	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E54K|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E54K|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E54K					radial spoke head 10 homolog B2 (Chlamydomonas)									p.E54K(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GCAGCTCAACGAAGTGAAACC	0.463000													60	131					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156784810	156784810	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:156784810G>A	ENST00000537611.2	-	2	183	c.137C>T	c.(136-138)tCc>tTc	p.S46F	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	46						integral to membrane|plasma membrane											CCCATGAAAGGAAGTGGAGAT	0.463000													23	49					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7469784	7469784	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:7469784G>A	ENST00000399422.4	+	4	720	c.672G>A	c.(670-672)atG>atA	p.M224I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	224					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						AAGAACCAATGACCATTTATT	0.517000													5	18					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109889441	109889441	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:109889441G>A	ENST00000228495.6	-	7	1182	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	KCTD10_ENST00000540411.1_Missense_Mutation_p.H275Y|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.H120Y|KCTD10_ENST00000540089.1_Missense_Mutation_p.H120Y	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	301					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CGCTTGATGTGGATCCTCCGC	0.706000													36	44					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10250059	10250059	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:10250059G>A	ENST00000418404.3	-	12	1364	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	MYH13_ENST00000252172.4_Silent_p.L401L|MYH13_ENST00000570743.1_Silent_p.L401L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	401	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACAGCACAGGCCCTTCAGC	0.453000													24	41					0	0	1	0	0
LCLAT1	253558	broad.mit.edu	37	2	30682518	30682518	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:30682518C>T	ENST00000309052.4	+	2	249	c.40C>T	c.(40-42)Cca>Tca	p.P14S	LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000359433.1_Missense_Mutation_p.P14S|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000319406.4_Missense_Mutation_p.P14S|LCLAT1_ENST00000379509.3_Intron	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	14					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCTTCTGAACCCATGGTCAAT	0.428000													36	174					0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21197786	21197786	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:21197786G>A	ENST00000592179.1	-	8	787	c.633C>T	c.(631-633)ggC>ggT	p.G211G	ANKRD29_ENST00000322980.9_Silent_p.G211G|ANKRD29_ENST00000284207.7_Silent_p.G211G	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	211										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATGCTGTTGTGCCATCCTTAA	0.363000													7	13					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70932725	70932725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:70932725G>A	ENST00000334414.6	-	27	5892	c.5848C>T	c.(5848-5850)Cga>Tga	p.R1950*	RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R1642*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R1862*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R1642*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R1732*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R1642*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1732	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1950*(1)|p.R1732*(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGTTGTATCGATTTTTCCCT	0.383000													7	6					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70347230	70347230	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:70347230C>T	ENST00000333646.6	+	21	3093	c.2894C>T	c.(2893-2895)tCc>tTc	p.S965F	MED12_ENST00000374102.1_Missense_Mutation_p.S965F|MED12_ENST00000374080.3_Missense_Mutation_p.S965F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	965					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCGATGGCTCCTCTGCAGAG	0.522000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						16	28					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37655208	37655208	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:37655208C>T	ENST00000378588.4	+	6	555	c.488C>T	c.(487-489)cCt>cTt	p.P163L	CYBB_ENST00000545017.1_Missense_Mutation_p.P131L|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	163	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TTACAGAACCCTGAAGGAGGC	0.463000													23	28					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176812796	176812796	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:176812796C>T	ENST00000324417.5	+	2	145	c.54C>T	c.(52-54)gtC>gtT	p.V18V	SLC34A1_ENST00000512593.1_Silent_p.V18V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	18					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CACTCCCAGTCCGTGGGGGGC	0.647000													14	5					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104489342	104489342	+	Splice_Site	SNP	G	G	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:104489342G>C	ENST00000229330.4	+	11	1770		c.e11+1		HCFC2_ENST00000550335.1_Splice_Site	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2						regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAATCTGAAGGTTTGAAATGT	0.333000													28	24					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29692214	29692214	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:29692214T>C	ENST00000440587.2	+	3	604	c.245T>C	c.(244-246)cTa>cCa	p.L82P	HLA-F_ENST00000376861.1_Missense_Mutation_p.L200P|HLA-F_ENST00000334668.4_Missense_Mutation_p.L200P|HLA-F_ENST00000259951.7_Missense_Mutation_p.L200P|HLA-F_ENST00000434407.2_Missense_Mutation_p.L200P			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	200	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AAGGAGACGCTACAGCGCGCA	0.572000													16	68					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539173	41539173	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr21:41539173G>A	ENST00000400454.1	-	16	3467	c.2990C>T	c.(2989-2991)tCa>tTa	p.S997L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	997	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTCTGAGATGATATAGGCTC	0.517000													56	62					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134635258	134635258	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:134635258C>T	ENST00000361388.2	+	9	1707	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	CALD1_ENST00000361675.2_Missense_Mutation_p.S643F|CALD1_ENST00000495522.1_Missense_Mutation_p.S408F|CALD1_ENST00000543443.1_Missense_Mutation_p.S393F|CALD1_ENST00000393118.2_Missense_Mutation_p.S408F|CALD1_ENST00000422748.1_Missense_Mutation_p.S414F|CALD1_ENST00000417172.1_Missense_Mutation_p.S388F|CALD1_ENST00000424922.1_Missense_Mutation_p.S382F|CALD1_ENST00000361901.2_Missense_Mutation_p.S388F|CALD1_ENST00000466704.1_3'UTR	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	643					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAAGGTTCATCTCTCAAGGTA	0.403000													55	47					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42364019	42364019	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:42364019C>T	ENST00000290472.3	-	15	1620	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	509	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CATCAGCCGTCCCATGAAGAA	0.607000													61	63					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471841	103471841	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:103471841G>A	ENST00000358392.2	-	16	2067	c.1750C>T	c.(1750-1752)Cca>Tca	p.P584S	COL11A1_ENST00000370096.3_Missense_Mutation_p.P572S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P533S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P456S|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	572	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCCCGTTGGACCAGGGGGA	0.358000													34	57					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2843991	2843991	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:2843991C>T	ENST00000380445.3	+	15	1495	c.1423C>T	c.(1423-1425)Ctt>Ttt	p.L475F	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.L331F|VPS16_ENST00000380443.3_Missense_Mutation_p.L161F	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	475					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GTACTTGCGCCTTCCTGAAGT	0.582000													51	47					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244522	233244522	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:233244522C>T	ENST00000392027.2	+	5	802	c.533C>T	c.(532-534)cCa>cTa	p.P178L	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	178						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACGCCTCGCCAGCCGGCACC	0.642000													12	46					0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	208986540	208986540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:208986540C>T	ENST00000264376.4	-	3	409	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	128	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CAGGAGCCCTCCAGCACGTTG	0.582000													51	37					0	0	1	0	0
MTFMT	123263	broad.mit.edu	37	15	65319317	65319317	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:65319317G>A	ENST00000220058.4	-	2	284	c.271C>T	c.(271-273)Cca>Tca	p.P91S		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	91						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AGTCCTTTTGGTGATGGGGAA	0.453000													21	34					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112022866	112022866	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:112022866G>A	ENST00000371959.3	-	10	2515	c.2516C>T	c.(2515-2517)tCc>tTc	p.S839F	AMOT_ENST00000304758.1_Missense_Mutation_p.S430F|AMOT_ENST00000524145.1_Missense_Mutation_p.S839F|AMOT_ENST00000371962.1_Missense_Mutation_p.S607F	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	839					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CGAGGGTGTGGAAGGGACATA	0.527000													37	55					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198665871	198665871	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:198665871C>T	ENST00000367376.2	+	4	296	c.125C>T	c.(124-126)cCa>cTa	p.P42L	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.P44L|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.P42L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	42					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCAGTGTTCCACTTTCAAGT	0.413000													79	72					0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37348955	37348955	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:37348955C>T	ENST00000373479.4	+	7	1459	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	422					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CCCACAGTTTCTGCTCCTACT	0.428000													54	166					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646624	4646624	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:4646624G>A	ENST00000433935.1	+	6	1228	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	ZMYND15_ENST00000573751.2_Missense_Mutation_p.E391K|ZMYND15_ENST00000592813.1_Missense_Mutation_p.E391K|ZMYND15_ENST00000269289.6_Missense_Mutation_p.E391K	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	391							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTTCAACAAAGAGGCCTTCCT	0.557000													86	29					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286601	240286601	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:240286601G>A	ENST00000319653.9	+	2	1968	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	580					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGCTTCAGGGAACCGTGTAA	0.493000													70	43					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211801	17211801	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:17211801G>A	ENST00000261381.6	-	11	2343	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	753					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAAGTTGCGGAATAGCCTCT	0.567000													27	53					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64117138	64117138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:64117138C>T	ENST00000356786.5	+	16	2904	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Nonsense_Mutation_p.Q106*|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	954					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAGCTGTTCCAGGTGATGCC	0.662000													3	12					0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58139636	58139636	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:58139636C>T	ENST00000547992.1	+	2	304	c.172C>T	c.(172-174)Ctt>Ttt	p.L58F	TSPAN31_ENST00000257910.3_Missense_Mutation_p.L58F|TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR			Q12999	TSN31_HUMAN	tetraspanin 31	58					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTTCCTTCTCCTTATTGCAGT	0.577000													54	39					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28659876	28659876	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:28659876C>T	ENST00000280904.6	-	11	2043	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N	DSC2_ENST00000251081.6_Missense_Mutation_p.D534N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	534	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCCTCTCTATCCAGGCTTCTG	0.368000													44	78					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158747	77158747	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:77158747G>A	ENST00000372524.4	-	2	2187	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.A567A	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					AAGCCATGGCGGCCGCGGCAG	0.701000													16	4					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122414467	122414467	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:122414467C>T	ENST00000474629.2	+	5	1059	c.793C>T	c.(793-795)Cct>Tct	p.P265S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGAATATTTTCCTGAAGAGAG	0.373000													12	18					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117279608	117279608	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:117279608C>T	ENST00000278935.3	+	29	3759	c.3612C>T	c.(3610-3612)gcC>gcT	p.A1204A	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1204					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCCCACAGGCCTCAGATGAGG	0.522000													19	38					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	6					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802332	33802332	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:33802332G>A	ENST00000260908.7	-	4	1494	c.1377C>T	c.(1375-1377)gtC>gtT	p.V459V	SLFN12L_ENST00000449046.1_Silent_p.V490V|SLFN12L_ENST00000361112.4_Silent_p.V488V	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	491						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATCACAGAGGACTTTGTGGT	0.448000													30	35					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228858281	228858281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:228858281G>A	ENST00000392056.3	-	9	4736	c.4690C>T	c.(4690-4692)Cag>Tag	p.Q1564*	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1564						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATGCTTTCCTGATAAATGTCC	0.433000													9	10					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8341825	8341825	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:8341825G>A	ENST00000381196.4	-	37	5358	c.4815C>T	c.(4813-4815)atC>atT	p.I1605I	PTPRD_ENST00000397611.3_Silent_p.I1195I|PTPRD_ENST00000537002.1_Silent_p.I1195I|PTPRD_ENST00000540109.1_Silent_p.I1605I|PTPRD_ENST00000360074.4_Silent_p.I1592I|PTPRD_ENST00000486161.1_Silent_p.I1198I|PTPRD_ENST00000358503.5_Silent_p.I1583I|PTPRD_ENST00000356435.5_Silent_p.I1605I|PTPRD_ENST00000355233.5_Silent_p.I1199I|PTPRD_ENST00000397606.3_Silent_p.I1198I|PTPRD_ENST00000397617.3_Silent_p.I1198I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1605	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGCATCATGGATAAAGATGT	0.388000										TSP Lung(15;0.13)			81	104					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074350	9074350	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:9074350A>T	ENST00000397910.4	-	3	13299	c.13096T>A	c.(13096-13098)Ttt>Att	p.F4366I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4368	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATCTGTAAATGTGTTGGTA	0.468000													34	11					0	0	1	0	0
MLF2	8079	broad.mit.edu	37	12	6858106	6858106	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:6858106G>A	ENST00000203630.5	-	8	1246	c.602C>T	c.(601-603)tCc>tTc	p.S201F	MLF2_ENST00000539187.1_Missense_Mutation_p.S201F|MLF2_ENST00000435120.1_Missense_Mutation_p.S201F|MLF2_ENST00000542154.1_Missense_Mutation_p.S201F			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	201					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CCGGAATCGGGAGGTCTCCCG	0.692000													9	11					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325089	152325089	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:152325089C>T	ENST00000388718.5	-	3	5245	c.5173G>A	c.(5173-5175)Gga>Aga	p.G1725R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1725							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCCCCTTCTTCCA	0.493000													148	309					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36869822	36869822	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:36869822C>T	ENST00000429976.2	-	23	8969	c.8722G>A	c.(8722-8724)Ggt>Agt	p.G2908S	TRANK1_ENST00000428977.2_Missense_Mutation_p.G2358S|TRANK1_ENST00000301807.6_Missense_Mutation_p.G2358S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2908					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CGAAGCTCACCAAAGTCTTCA	0.453000													7	11					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41828393	41828393	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:41828393G>A	ENST00000304330.4	-	4	470	c.354C>T	c.(352-354)gcC>gcT	p.A118A	RPAP1_ENST00000561603.1_Silent_p.A118A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	118						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCAGATTCACGGCCACTGAAC	0.537000													16	21					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327685	49327685	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:49327685G>A	ENST00000559471.1	-	3	637	c.374C>T	c.(373-375)cCt>cTt	p.P125L	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P125L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	125										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGTAGGAAAAGGATGATAGAA	0.463000													65	79					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248844898	248844898	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:248844898G>A	ENST00000342623.3	-	1	731	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGCAGGTGGAGAAGGCTTTTG	0.478000													61	71					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105261746	105261746	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:105261746G>A	ENST00000507740.1	+	20	3299	c.3063G>A	c.(3061-3063)aaG>aaA	p.K1021K	RIMS2_ENST00000262231.10_Silent_p.K1046K|RIMS2_ENST00000406091.3_Silent_p.K1207K|RIMS2_ENST00000339750.2_Silent_p.K143K|RIMS2_ENST00000436393.2_Silent_p.K1225K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1269					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGACAAAAAGGGACAGCTGG	0.403000										HNSCC(12;0.0054)			22	19					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107860	55107860	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:55107860G>A	ENST00000474759.1	+	37	3205	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E959K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E1053K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E1053K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1053						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGGCGCCCAGAATCTTGTCA	0.438000													14	27					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684215	75684215	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:75684215G>A	ENST00000370855.5	-	17	1602	c.1489C>T	c.(1489-1491)Cca>Tca	p.P497S	SLC44A5_ENST00000370859.3_Missense_Mutation_p.P497S|SLC44A5_ENST00000535611.1_Missense_Mutation_p.P367S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	497						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGATATCGTGGGATGTCATCA	0.423000													94	114					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96917848	96917848	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:96917848G>A	ENST00000267584.4	+	10	1083	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	347					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TGCCCAAACAGGATTTGTGGA	0.393000													22	28					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754769	110754769	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:110754769C>T	ENST00000369787.3	+	1	675	c.648C>T	c.(646-648)ttC>ttT	p.F216F	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.F216F|KCNC4_ENST00000413138.3_Silent_p.F216F	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	216					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGCGCTCTTCGAGGATCCCT	0.731000													8	5					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44441989	44441989	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:44441989C>T	ENST00000342649.4	+	9	1455	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	TCAIM_ENST00000417237.1_Missense_Mutation_p.S343F	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		GAATATTACTCTCTTCTTGAT	0.318000													23	46					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220312840	220312840	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:220312840C>T	ENST00000312358.7	+	4	1092	c.960C>T	c.(958-960)tcC>tcT	p.S320S	SPEG_ENST00000396698.1_Silent_p.S216S|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	320	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGAAGCGGTCCCCGCCGGGAC	0.746000													17	7					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32555079	32555079	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:32555079C>T	ENST00000382097.3	-	1	196	c.124G>A	c.(124-126)Gca>Aca	p.A42T		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	42										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GTGGTGGATGCTGGTGCTGTG	0.577000													67	137					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43316182	43316182	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:43316182G>A	ENST00000361428.2	-	6	3029	c.2952C>T	c.(2950-2952)atC>atT	p.I984I	ZNF318_ENST00000318149.3_Silent_p.I984I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	984					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATTTATCGAAGATGTTAATTC	0.433000													100	141					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647000													6	298					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74320073	74320073	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:74320073C>T	ENST00000409262.3	+	6	2679	c.2679C>T	c.(2677-2679)gtC>gtT	p.V893V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	893							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACCGAAGTCGCTCCCCTGT	0.617000													7	2					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107381	14107381	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:14107381C>T	ENST00000235372.7	+	8	3947	c.3091C>T	c.(3091-3093)Ccc>Tcc	p.P1031S	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1031S|PRDM2_ENST00000343137.4_Missense_Mutation_p.P830S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P830S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1031	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTCCCCCTCTCCCTCTCCCAT	0.592000													45	61					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53995593	53995593	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:53995593C>T	ENST00000312233.2	-	4	1394	c.828G>A	c.(826-828)ctG>ctA	p.L276L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	276					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGAGGTTCTCCAGCCGTGAGA	0.632000													27	44					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2452566	2452566	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:2452566G>A	ENST00000378466.3	-	3	408	c.396C>T	c.(394-396)gaC>gaT	p.D132D	PANK4_ENST00000435556.3_Intron	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	132					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTTCGATGAGGTCTTTGAACT	0.587000													47	73					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365303	128365303	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:128365303T>C	ENST00000262462.4	+	9	2596	c.1586T>C	c.(1585-1587)aTt>aCt	p.I529T	SLC27A6_ENST00000506176.1_Missense_Mutation_p.I529T|SLC27A6_ENST00000395266.1_Missense_Mutation_p.I529T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	529					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCTTCTATTATTTTAAAACCA	0.284000													10	4					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167689679	167689679	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:167689679A>G	ENST00000519204.1	+	28	7944	c.7826A>G	c.(7825-7827)aAg>aGg	p.K2609R	TENM2_ENST00000403607.2_Missense_Mutation_p.K2554R|TENM2_ENST00000520394.1_Missense_Mutation_p.K2491R|TENM2_ENST00000545108.1_Missense_Mutation_p.K2729R|TENM2_ENST00000518659.1_Missense_Mutation_p.K2730R					teneurin transmembrane protein 2																		GAGGGCGAGAAGCAGCAGCTT	0.637000													7	0					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592772	38592772	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:38592772G>A	ENST00000413689.1	-	28	5284	c.5091C>T	c.(5089-5091)ttC>ttT	p.F1697F	SCN5A_ENST00000455624.2_Silent_p.F1664F|SCN5A_ENST00000451551.2_Silent_p.F1643F|SCN5A_ENST00000333535.4_Silent_p.F1697F|SCN5A_ENST00000450102.2_Silent_p.F1643F|SCN5A_ENST00000449557.2_Silent_p.F1643F|SCN5A_ENST00000443581.1_Silent_p.F1696F|SCN5A_ENST00000425664.1_Silent_p.F1679F|SCN5A_ENST00000423572.2_Silent_p.F1696F|SCN5A_ENST00000414099.2_Silent_p.F1679F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1697					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCTGTTGGCGAAGGTCTGGA	0.577000													82	153					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212418	43212418	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:43212418C>T	ENST00000255226.6	+	5	1441	c.625C>T	c.(625-627)Cct>Tct	p.P209S	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P209S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	209						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTTCTGTTTCCTGTGACCTT	0.542000													51	100					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868434	31868434	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:31868434G>A	ENST00000375527.2	-	2	824	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GCCACCTCCAGGGCCGACTCC	0.627000													70	192					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44254094	44254094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:44254094C>T	ENST00000371505.4	-	3	575	c.453G>A	c.(451-453)tgG>tgA	p.W151*	TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	151										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACATGCGTTTCCAGCTGCCGC	0.617000													43	53					0	0	1	0	0
IGLV3-22	28795	broad.mit.edu	37	22	23047216	23047216	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:23047216C>T	ENST00000390307.2	+	0	318																											GGGTCCACCTCAGGGAACACG	0.557000													31	49					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64587752	64587752	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:64587752G>A	ENST00000498707.1	-	26	4227	c.3885C>T	c.(3883-3885)tgC>tgT	p.C1295C	ADAMTS9_ENST00000295903.4_Silent_p.C1267C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1295	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCTTTGAGGGCATGGTGACA	0.557000													67	84					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10924775	10924775	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:10924775G>A	ENST00000283141.6	+	15	1415	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	SYCP2L_ENST00000543878.1_Missense_Mutation_p.M214I|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	373						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAAGCCCATGATTATCAGCT	0.313000													19	47					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920169	58920169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:58920169C>T	ENST00000528737.1	+	5	3846	c.1028C>T	c.(1027-1029)tCg>tTg	p.S343L	FAM111A_ENST00000531147.1_Missense_Mutation_p.S343L|FAM111A_ENST00000420244.1_Missense_Mutation_p.S343L|FAM111A_ENST00000361723.3_Missense_Mutation_p.S343L|FAM111A_ENST00000533703.1_Missense_Mutation_p.S343L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	343					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATTCTTCTTCGATTAAAGTA	0.343000													25	47					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29628339	29628339	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:29628339C>T	ENST00000334018.6	+	8	959	c.771C>T	c.(769-771)ccC>ccT	p.P257P	EMID1_ENST00000404755.3_Silent_p.P257P|EMID1_ENST00000404820.3_Silent_p.P257P|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	255	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CTCCTGGCCCCCCTGGGCCCC	0.731000													16	18					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11592945	11592945	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:11592945A>C	ENST00000262442.3	+	20	3874	c.3806A>C	c.(3805-3807)gAa>gCa	p.E1269A	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1269A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1269	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGCAGATGGAATCCACTATG	0.493000													50	63					0	0	1	0	0
LPXN	9404	broad.mit.edu	37	11	58317506	58317506	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:58317506G>A	ENST00000528954.1	-	6	734	c.615C>T	c.(613-615)ccC>ccT	p.P205P	LPXN_ENST00000395074.2_Silent_p.P200P|LPXN_ENST00000528489.1_Silent_p.P180P	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	200	LIM zinc-binding 1.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	p.P200P(1)|p.P205P(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGTAGTCGTTGGGGCAGTAGG	0.512000													98	136					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141737	29141737	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:29141737G>A	ENST00000377167.2	+	1	427	c.325G>A	c.(325-327)Gga>Aga	p.G109R		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCTTGCACTGGGAATCACAGA	0.488000													111	267					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050929	49050929	+	Silent	SNP	T	T	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:49050929T>G	ENST00000395474.3	+	2	2332	c.2052T>G	c.(2050-2052)ggT>ggG	p.G684G	WDR6_ENST00000415265.2_Silent_p.G102G|WDR6_ENST00000448293.1_Silent_p.G603G	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	654					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TCAACTGTGGTGGAGGGCACC	0.562000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	37					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926645	43926645	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:43926645C>T	ENST00000537548.1	-	9	1736	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	MATN4_ENST00000372753.1_Missense_Mutation_p.E349K|MATN4_ENST00000353917.5_Missense_Mutation_p.E416K|MATN4_ENST00000372751.4_Missense_Mutation_p.E349K|MATN4_ENST00000372756.1_Missense_Mutation_p.E498K|MATN4_ENST00000342716.4_Missense_Mutation_p.E498K|MATN4_ENST00000372754.1_Missense_Mutation_p.E539K|MATN4_ENST00000360607.5_Missense_Mutation_p.E457K			O95460	MATN4_HUMAN	matrilin 4	539	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCCGCTGGCTCCGAGGCGATC	0.672000													24	57					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25784008	25784008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:25784008C>T	ENST00000399878.3	-	15	2435	c.2313G>A	c.(2311-2313)tgG>tgA	p.W771*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.W618*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.W736*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	771						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGTGGTAATACCATCCCAGGC	0.393000													35	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454435	179454435	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:179454435C>T	ENST00000589042.1	-	304	62241	c.62017G>A	c.(62017-62019)Gaa>Aaa	p.E20673K	TTN_ENST00000342175.6_Missense_Mutation_p.E11800K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11733K|TTN_ENST00000591111.1_Missense_Mutation_p.E19032K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11608K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18105K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19032							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGGTTTTCAGGCTCACCT	0.433000													97	79					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883961	19883961	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:19883961G>A	ENST00000300571.2	-	2	398	c.207C>T	c.(205-207)atC>atT	p.I69I	GPRC5B_ENST00000569479.1_Silent_p.I69I|GPRC5B_ENST00000569847.1_Silent_p.I69I|GPRC5B_ENST00000537135.1_Silent_p.I95I|GPRC5B_ENST00000535671.1_Silent_p.I69I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	69										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGAGCAGTGTGATCAGGGCGC	0.642000													33	44					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8667851	8667851	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:8667851C>T	ENST00000299665.2	+	2	241	c.48C>T	c.(46-48)ccC>ccT	p.P16P		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	16					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GCATGCATCCCCAGCTGATAC	0.398000													33	38					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68010058	68010058	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:68010058C>T	ENST00000268793.4	-	9	1616	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	390					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AGCTCTTCCTCGCTCCAGCTA	0.567000													100	116					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822089	24822089	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:24822089C>T	ENST00000376451.2	+	11	2646	c.2386C>T	c.(2386-2388)Ccg>Tcg	p.P796S	KIAA1217_ENST00000307544.6_Missense_Mutation_p.P796S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1113S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P796S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P1033S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P796S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1077S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1078S			Q5T5P2	SKT_HUMAN	KIAA1217	1113					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCATCCCCACCGCCTGTCAC	0.532000													26	10					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696104	7696104	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:7696104C>T	ENST00000572933.1	+	47	8735	c.7275C>T	c.(7273-7275)atC>atT	p.I2425I	DNAH2_ENST00000389173.2_Silent_p.I2425I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2425	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGACCTCCATCGCCCAGAGCG	0.632000													35	7					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40627186	40627186	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:40627186C>T	ENST00000372771.4	+	1	142	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	39					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGTCATCGCCCCGTATCTCC	0.677000													16	27					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32823810	32823810	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr13:32823810C>T	ENST00000380250.3	+	49	7652	c.7156C>T	c.(7156-7158)Ccc>Tcc	p.P2386S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGGAAAAGGCCCCAGTATTC	0.567000													4	50					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769773	247769773	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:247769773G>A	ENST00000320002.2	+	1	918	c.886G>A	c.(886-888)Gat>Aat	p.D296N	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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;0.017)			AAGGAACAAGGATATGAAAGA	0.418000													45	61					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65234457	65234457	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:65234457A>C	ENST00000389722.3	-	29	6196	c.6143T>G	c.(6142-6144)aTc>aGc	p.I2048S	SPTB_ENST00000542895.1_Missense_Mutation_p.I2048S|SPTB_ENST00000389720.3_Missense_Mutation_p.I2048S|SPTB_ENST00000389721.5_Missense_Mutation_p.I2048S|SPTB_ENST00000556626.1_Missense_Mutation_p.I2048S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2048					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ATGCCTCTTGATGAGCTTCTC	0.617000													53	75					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486956	94486956	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:94486956G>A	ENST00000375708.3	-	9	2018	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.S467F	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	607	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGGTGGCTGGATAGGTACTC	0.612000													33	37					0	0	1	0	0
SRSF12	135295	broad.mit.edu	37	6	89814845	89814845	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:89814845G>A	ENST00000452027.2	-	4	602	c.409C>T	c.(409-411)Ctt>Ttt	p.L137F		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	137	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CACTCTTTAAGGCTGTCTGAC	0.403000													7	16					0	0	1	0	0
LOC728715	728715	broad.mit.edu	37	12	9717819	9717819	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:9717819C>T	ENST00000520314.1	+	0	4248																											CCGGAAAATTCCTGACCTCAC	0.478000													18	5					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543030	28543030	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:28543030G>A	ENST00000452236.2	-	3	2069	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	484	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GCATCCAGGAGAAAATCCTCT	0.428000													39	90					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022222	51022222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:51022222G>A	ENST00000599957.1	-	3	945	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.Q250*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	250						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGAGACCCTGGAAGGAGCCC	0.657000													22	38					0	0	1	0	0
FGF8	2253	broad.mit.edu	37	10	103531316	103531316	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:103531316G>A	ENST00000347978.2	-	4	430	c.261C>T	c.(259-261)atC>atT	p.I87I	FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000320185.2_Silent_p.I116I|FGF8_ENST00000344255.3_Silent_p.I105I|FGF8_ENST00000346714.3_Silent_p.I76I	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	105					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCGTCTCCACGATGAGCTTTG	0.567000													22	13					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900204	40900204	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:40900204G>A	ENST00000324001.7	-	7	4325	c.4055C>T	c.(4054-4056)cCc>cTc	p.P1352L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1352					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ctcctcctcGGGGCTGGGGGA	0.706000													10	22					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20003224	20003224	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:20003224C>T	ENST00000589717.1	+	4	1260	c.1168C>T	c.(1168-1170)Cat>Tat	p.H390Y	ZNF253_ENST00000355650.4_Missense_Mutation_p.H314Y	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	390				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAGAAAATTCATACTGGAGA	0.393000													32	6					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171113	77171113	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:77171113C>T	ENST00000253506.5	+	2	1207	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	NFATC1_ENST00000427363.2_Missense_Mutation_p.H280Y|NFATC1_ENST00000542384.1_Missense_Mutation_p.H280Y|NFATC1_ENST00000592223.1_Missense_Mutation_p.H267Y|NFATC1_ENST00000591814.1_Missense_Mutation_p.H280Y|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.H267Y|NFATC1_ENST00000329101.4_Missense_Mutation_p.H267Y|NFATC1_ENST00000586434.1_Missense_Mutation_p.H267Y|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.H280Y	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	280	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTACTCACCCCACCACTCGCC	0.687000													37	34					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21737921	21737921	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:21737921C>T	ENST00000388958.3	+	18	1959	c.1958C>T	c.(1957-1959)tCc>tTc	p.S653F	OTOA_ENST00000388956.4_Missense_Mutation_p.S574F|OTOA_ENST00000286149.4_Missense_Mutation_p.S667F|OTOA_ENST00000388957.3_Missense_Mutation_p.S329F	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	667					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGTTGGACTCCTTGGTTTTA	0.547000													67	72					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127340026	127340026	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:127340026C>T	ENST00000265056.7	+	15	2803	c.2559C>T	c.(2557-2559)gcC>gcT	p.A853A	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	853					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GCTTTGGGGCCCAGCAGGACA	0.552000													51	52					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68170405	68170405	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:68170405C>T	ENST00000262215.3	-	16	2745	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E240K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	786	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CGAAATCCTTCTAGAAACATA	0.378000													14	24					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134252878	134252878	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:134252878G>A	ENST00000524765.1	-	4	5188	c.644C>T	c.(643-645)tCc>tTc	p.S215F	B3GAT1_ENST00000537389.1_Missense_Mutation_p.S228F|B3GAT1_ENST00000312527.4_Missense_Mutation_p.S215F|B3GAT1_ENST00000392580.1_Missense_Mutation_p.S215F			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	215					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGGCCACACGGACACCCTCCT	0.697000													6	7					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763263	43763263	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:43763263G>A	ENST00000418820.2	-	3	553	c.455C>T	c.(454-456)aCc>aTc	p.T152I	PSG9_ENST00000593948.1_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.T245I|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.T152I			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	152	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTTGTTGATGGTGATGTAGGG	0.473000													120	176					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108097886	108097886	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:108097886C>T	ENST00000374720.3	+	4	559	c.312C>T	c.(310-312)aaC>aaT	p.N104N	SLC44A1_ENST00000374723.1_Silent_p.N104N|SLC44A1_ENST00000374724.1_Silent_p.N104N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	104						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	ACTTGATAAACCGGAAGATTA	0.408000													45	90					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597494	136597494	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:136597494C>T	ENST00000531224.1	-	5	1421	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	BCLAF1_ENST00000353331.4_Missense_Mutation_p.G388E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G388E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G388E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G390E|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	390					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTTGTTTTCCAGACTCTTT	0.423000													90	278					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80932643	80932643	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:80932643C>T	ENST00000376588.3	+	7	860	c.792C>T	c.(790-792)gcC>gcT	p.A264A	PSAT1_ENST00000347159.2_Silent_p.A264A	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	264					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	ATGGAGGTGCCGCGGCCATGG	0.373000													72	66					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76136987	76136987	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:76136987C>T	ENST00000318430.5	+	16	2349	c.1975C>T	c.(1975-1977)Ccg>Tcg	p.P659S	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.P436S	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	659						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GAGCGACTCTCCGGGCCCCAA	0.706000													9	11					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22476271	22476271	+	RNA	SNP	C	C	T	rs140297772	by1000genomes	TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:22476271C>T	ENST00000390447.3	+	0	318																											AATTGGTTTTCCTTATTCGTC	0.418000													16	13					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612584	79612584	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:79612584C>T	ENST00000328585.4	+	0	693				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACCTGCGCTTCCTCCTCGACC	0.677000													11	22					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129270669	129270669	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:129270669G>A	ENST00000287295.3	-	11	1343	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Silent_p.S367S|AIFM1_ENST00000346424.2_Silent_p.S84S|AIFM1_ENST00000440263.1_Silent_p.S19S|AIFM1_ENST00000460436.2_Silent_p.S32S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	371	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGACTCCAACGGATTGCACAA	0.483000													39	57					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734148	37734148	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:37734148C>T	ENST00000589413.1	+	8	1593	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	ZNF383_ENST00000352998.3_Missense_Mutation_p.P337L|ZNF383_ENST00000590503.1_Missense_Mutation_p.P337L			Q8NA42	ZN383_HUMAN	zinc finger protein 383	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGAGAAACCCTATGAGTGC	0.423000													56	86					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321193	13321193	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:13321193G>A	ENST00000607658.1	-	3	397	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	TBC1D7_ENST00000379307.2_Missense_Mutation_p.R83C|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R110C|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R110C|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R110C			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	110	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	p.R110C(2)|p.R110S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TGATACATGCGGAGATAGACT	0.488000													104	248					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14420124	14420124	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:14420124C>T	ENST00000344204.4	+	34	5221	c.5197C>T	c.(5197-5199)Cac>Tac	p.H1733Y	TRIO_ENST00000537187.1_Missense_Mutation_p.H1733Y	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1733					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CATCTTCAACCACAAAGGTAG	0.592000													21	59					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292136	6292136	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:6292136G>A	ENST00000525462.1	+	4	917	c.914G>A	c.(913-915)aGg>aAg	p.R305K	CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532396.1_Intron|CCKBR_ENST00000532715.1_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	265					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AGGGTGAGAAGGAAGCTGGAA	0.627000													15	12					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780115	37780115	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:37780115C>T	ENST00000447769.1	+	4	409	c.120C>T	c.(118-120)ttC>ttT	p.F40F	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.F40F			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	40						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCATTCTTTTCCTCCTGGTGA	0.498000													84	64					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894601	123894601	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:123894601G>A	ENST00000375024.1	+	1	882	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACAAGGAGGTGAAGAAAGCTG	0.428000													44	83					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623401	137623401	+	Silent	SNP	G	G	A	rs139406076		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:137623401G>A	ENST00000371817.3	+	8	1638	c.1224G>A	c.(1222-1224)acG>acA	p.T408T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	408	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGAGGAAACGATCCGGAACC	0.627000													36	48					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158256830	158256830	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:158256830C>T	ENST00000296526.7	+	10	1599	c.1274C>T	c.(1273-1275)cCg>cTg	p.P425L	GRIA2_ENST00000507898.1_Missense_Mutation_p.P378L|GRIA2_ENST00000264426.9_Missense_Mutation_p.P425L|GRIA2_ENST00000393815.2_Missense_Mutation_p.P378L|GRIA2_ENST00000449365.1_Missense_Mutation_p.P378L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	425					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TAGGAATCTCCGTATGTTATG	0.363000													13	12					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123904428	123904428	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:123904428C>T	ENST00000373855.1	+	19	3011	c.2751C>T	c.(2749-2751)caC>caT	p.H917H	CNTRL_ENST00000373847.1_Silent_p.H365H|CNTRL_ENST00000238341.5_Silent_p.H917H|CNTRL_ENST00000373850.1_Silent_p.H365H			Q7Z7A1	CNTRL_HUMAN	centriolin	917					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGAAATTCACTATTTGCAAG	0.363000													16	25					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16180682	16180682	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:16180682G>A	ENST00000399408.2	+	18	2469	c.2292_splice	c.e18-1	p.G765_splice	ABCC1_ENST00000345148.5_Splice_Site_p.G765_splice|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000346370.5_Intron|ABCC1_ENST00000399410.3_Splice_Site_p.G765_splice|ABCC1_ENST00000351154.5_Splice_Site_p.G706_splice			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	765	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTCCCCAGGGCGTGAACCTG	0.577000													52	72					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435045	10435045	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:10435045C>T	ENST00000245503.5	-	22	2986	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E868K|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	868					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E868K(1)		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						TTGGCAAGTTCGTCTTTAATT	0.428000													31	59					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29906757	29906757	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:29906757C>T	ENST00000308713.5	-	5	1203	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E156K|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E182K|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	226	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCTCCTCTTCCTGTGACAGG	0.612000													35	52					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36105181	36105181	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:36105181C>T	ENST00000377966.3	+	13	2043	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	493						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGTGACTCATCCCTGTAACCC	0.403000													22	23					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617709	54617709	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:54617709C>T	ENST00000302287.3	+	4	886	c.480C>T	c.(478-480)ttC>ttT	p.F160F	VSTM2A_ENST00000402026.2_Silent_p.F159F|VSTM2A_ENST00000407838.3_Silent_p.F160F|VSTM2A_ENST00000402613.3_Silent_p.F160F|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Silent_p.F160F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	160						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGCAGGCCTTCGAAGCCTCGC	0.592000													14	31					0	0	1	0	0
BCL2	596	broad.mit.edu	37	18	60795886	60795886	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:60795886G>A	ENST00000398117.1	-	2	2153	c.692C>T	c.(691-693)aCc>aTc	p.T231I	BCL2_ENST00000333681.4_Missense_Mutation_p.T231I|BCL2_ENST00000590515.1_5'UTR	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	231					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GGCACCCAGGGTGATGCAAGC	0.498000			T	IGH@	"""NHL, CLL"""								20	26					0	0	1	0	0
HHLA3	11147	broad.mit.edu	37	1	70820885	70820885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:70820885C>T	ENST00000359875.5	+	1	391	c.251C>T	c.(250-252)gCg>gTg	p.A84V	HHLA3_ENST00000370940.5_Intron|HHLA3_ENST00000432224.1_Missense_Mutation_p.A84V|HHLA3_ENST00000531950.1_Missense_Mutation_p.A84V|HHLA3_ENST00000361764.4_Intron|HHLA3_ENST00000486110.1_3'UTR	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	84							protein binding			large_intestine(3)|lung(1)	4						aaAGCGGAGGCGGGGAGGTGG	0.458000													3	12					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33652666	33652666	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:33652666G>A	ENST00000374316.5	+	40	6313	c.5253G>A	c.(5251-5253)caG>caA	p.Q1751Q	ITPR3_ENST00000605930.1_Silent_p.Q1751Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1751					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGATCTTCCAGGAGAGCATCG	0.632000													52	121					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119943076	119943076	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:119943076C>T	ENST00000327554.2	+	7	1316	c.851C>T	c.(850-852)tCa>tTa	p.S284L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	284										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAGTCATCTTCAACCAAGCCA	0.498000													42	99					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103400100	103400100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:103400100C>T	ENST00000358392.2	-	46	3858	c.3541G>A	c.(3541-3543)Gaa>Aaa	p.E1181K	COL11A1_ENST00000370096.3_Missense_Mutation_p.E1169K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1130K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1053K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1169	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCTGGTTCACCATCACCT	0.438000													21	36					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720927	140720927	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:140720927C>T	ENST00000394576.2	+	1	2389	c.2389C>T	c.(2389-2391)Cta>Tta	p.L797L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCAATCTCTACTCGAAGA	0.433000													47	10					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102079408	102079408	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:102079408G>A	ENST00000356387.2	+	3	240	c.5G>A	c.(4-6)aGt>aAt	p.S2N	ORAI2_ENST00000403646.3_Missense_Mutation_p.S2N|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000478730.1_Missense_Mutation_p.S2N|ORAI2_ENST00000473939.1_Missense_Mutation_p.S2N	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	2						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCCACCATGAGTGCTGAGCTT	0.597000													161	131					0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4099316	4099316	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:4099316G>A	ENST00000380175.4	+	3	933	c.168G>A	c.(166-168)ccG>ccA	p.P56P	C6orf201_ENST00000430835.2_Silent_p.P56P|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Silent_p.P59P	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	56										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCCAAAGCCGAACAGAATGC	0.418000													34	83					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675755	167675755	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:167675755C>T	ENST00000357154.3	-	9	981	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	SPOCK3_ENST00000511531.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E184K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E162K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E150K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E239K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E186K|SPOCK3_ENST00000512648.1_Missense_Mutation_p.E279K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E279K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E279K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E231K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E184K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E279K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	282					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GTACACTGTTCATTCTTATCA	0.403000													42	47					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100963902	100963902	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:100963902G>A	ENST00000375066.5	-	11	2407	c.2316C>T	c.(2314-2316)ccC>ccT	p.P772P	TBC1D2_ENST00000342112.5_Silent_p.P554P|TBC1D2_ENST00000375064.1_Silent_p.P772P|TBC1D2_ENST00000375063.1_Silent_p.P312P	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	772	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCATCAGCCTGGGCAGCTTCT	0.627000													43	65					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793049	143793049	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:143793049C>T	ENST00000408949.2	+	1	909	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCAACCCGATCCTGAACCCCC	0.468000													319	220					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109288105	109288105	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:109288105G>A	ENST00000228476.3	+	7	778	c.574G>A	c.(574-576)Gac>Aac	p.D192N	DAO_ENST00000551281.1_Missense_Mutation_p.D126N	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	192					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GCTACAACGAGACCCCCTGCT	0.547000													6	25					0	0	1	0	0
USP50	373509	broad.mit.edu	37	15	50833271	50833271	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:50833271G>A	ENST00000532404.1	-	4	808	c.635C>T	c.(634-636)cCa>cTa	p.P212L	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	212					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		ATATTTGGATGGAATGGGGAG	0.458000													17	25					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14498697	14498697	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:14498697C>T	ENST00000344204.4	+	53	8304	c.8280C>T	c.(8278-8280)atC>atT	p.I2760I	TRIO_ENST00000537187.1_Silent_p.I2584I|TRIO_ENST00000344135.5_Silent_p.I259I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2760	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACACGTGCATCGCTGTCAATG	0.592000													60	80					0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41783396	41783396	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:41783396G>A	ENST00000266304.4	+	2	315	c.199G>A	c.(199-201)Gca>Aca	p.A67T	TEF_ENST00000406644.3_Missense_Mutation_p.A37T	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	67					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GGACGAGGCCGCAGCCGCCAG	0.527000													72	76					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134989123	134989123	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:134989123G>A	ENST00000535938.1	+	8	942	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	SAGE1_ENST00000324447.3_Missense_Mutation_p.E259K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E259K|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	259										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGAGAAGATGGAAAAGGGCCA	0.473000													61	77					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183681181	183681181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:183681181G>A	ENST00000334444.6	-	15	2467	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.Q743*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	743	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACCTGTAACTGGTGGGTAACA	0.488000													50	78					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24024803	24024803	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:24024803C>T	ENST00000328046.8	-	3	263	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	3										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TTCCACGTCCCCTGCCATGAA	0.413000													9	18					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31251830	31251830	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:31251830G>A	ENST00000269197.5	+	7	715	c.715_splice	c.e7+1	p.G239_splice		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTCTGGTTTAGGTGAGTGTTT	0.289000													6	14					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18379508	18379508	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:18379508G>A	ENST00000441493.2	-	8	1540	c.1188C>T	c.(1186-1188)gtC>gtT	p.V396V	MICAL3_ENST00000585038.1_Silent_p.V396V|MICAL3_ENST00000414725.2_Silent_p.V396V|MICAL3_ENST00000444520.1_Silent_p.V396V|MICAL3_ENST00000207726.7_Silent_p.V396V|MICAL3_ENST00000429452.1_Silent_p.V396V|MICAL3_ENST00000383094.3_Silent_p.V396V|MICAL3_ENST00000400561.2_Silent_p.V396V	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	396						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTGTCCCCGACCAGAGCCA	0.552000											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	44					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171240	51171240	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:51171240G>A	ENST00000440970.1	-	3	3898	c.3467C>T	c.(3466-3468)tCc>tTc	p.S1156F	SALL1_ENST00000251020.4_Missense_Mutation_p.S1253F|SALL1_ENST00000541611.1_Missense_Mutation_p.S76F|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1253					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGAATGACGGAGATCTCGTT	0.577000													23	39					0	0	1	0	0
CCDC174	51244	broad.mit.edu	37	3	14712409	14712409	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:14712409C>T	ENST00000383794.3	+	11	1185	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	CCDC174_ENST00000303688.7_Missense_Mutation_p.S295F|CCDC174_ENST00000476763.1_3'UTR	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		CCAGAATTTTCCTTTGGATAC	0.368000													17	16					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12886424	12886424	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:12886424C>T	ENST00000361905.4	+	5	927	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	TEAD1_ENST00000334310.6_Missense_Mutation_p.R88C|TEAD1_ENST00000527636.1_Missense_Mutation_p.R103C|TEAD1_ENST00000361985.2_Missense_Mutation_p.R103C|TEAD1_ENST00000527575.1_Missense_Mutation_p.R103C	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	103					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAGGAAATCTCGTGATTTTCA	0.458000													47	96					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56926025	56926025	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:56926025G>A	ENST00000438926.2	+	20	2428	c.2399G>A	c.(2398-2400)gGg>gAg	p.G800E	SLC12A3_ENST00000262502.5_Missense_Mutation_p.G799E|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G799E|SLC12A3_ENST00000563236.1_Missense_Mutation_p.G800E	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	800					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCGGAGGACGGGAAGGAAGCC	0.597000													79	131					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64139727	64139727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:64139727G>A	ENST00000354504.3	-	16	2621	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	VPS54_ENST00000272322.4_Nonsense_Mutation_p.R831*|VPS54_ENST00000409558.3_Nonsense_Mutation_p.R819*			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	831				EER -> VGG (in Ref. 1; AAF37319).	protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GGTGGTAGTCGAGCTTCAAAA	0.378000													20	59					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817749	7817749	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:7817749G>A	ENST00000329434.2	-	1	771	c.741C>T	c.(739-741)ttC>ttT	p.F247F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGTCCCATAGAACAGGGTAA	0.488000													34	49					0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008598	142008598	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:142008598C>T	ENST00000390387.3	+	0	118																											ACAGCTGTTTCCCAGACTCCA	0.453000													41	21					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248980	20248980	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:20248980C>T	ENST00000315957.4	+	1	580	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTCGACTTCCTTTCTGTGG	0.488000													97	117					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136574958	136574958	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:136574958C>T	ENST00000264162.2	-	6	1670	c.1660G>A	c.(1660-1662)Ggc>Agc	p.G554S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	554	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGTGCTGGCCGGTGCCATAG	0.577000													17	59					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44189567	44189567	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:44189567C>T	ENST00000403799.3	-	5	1049		c.e5+1		GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000437084.1_Splice_Site	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGCCCCCTCACCCCTCTCCGT	0.622000													98	66					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835736	12835736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:12835736G>A	ENST00000357726.4	+	2	365	c.338G>A	c.(337-339)tGg>tAg	p.W113*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	113										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAACTTCTGGGGCATATGG	0.532000													118	184					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901664	2901664	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:2901664C>T	ENST00000254695.8	+	14	1284	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	RAP1GAP2_ENST00000540393.2_Silent_p.S379S|RAP1GAP2_ENST00000542807.1_Silent_p.S398S|RAP1GAP2_ENST00000366401.4_Silent_p.S383S	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	398	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						AGACCCCATCCTACAAGGTAA	0.542000													21	9					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189056	62189056	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:62189056C>T	ENST00000474889.1	+	12	1964	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	PTPRG_ENST00000295874.10_Silent_p.F529F	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	529					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCTCCTCTTTCCCCAGCACTG	0.701000													25	18					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13763291	13763291	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:13763291T>A	ENST00000202816.1	-	2	603	c.496A>T	c.(496-498)Aag>Tag	p.K166*		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	166	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCTCTTTCTTATTTTTTTGT	0.299000													12	21					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61570991	61570991	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:61570991A>G	ENST00000577647.1	+	9	1430	c.1385A>G	c.(1384-1386)aAc>aGc	p.N462S	ACE_ENST00000421982.2_Missense_Mutation_p.N282S|ACE_ENST00000290863.6_Missense_Mutation_p.N462S|ACE_ENST00000290866.4_Missense_Mutation_p.N1036S|ACE_ENST00000413513.3_Missense_Mutation_p.N462S|ACE_ENST00000490216.2_Missense_Mutation_p.N462S|ACE_ENST00000428043.1_Missense_Mutation_p.N1036S			P12821	ACE_HUMAN	angiotensin I converting enzyme	1036	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACAGTCTCAACCTGCTGAGC	0.632000													25	40					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47722954	47722954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:47722954G>A	ENST00000455779.1	+	28	2797	c.2612G>A	c.(2611-2613)tGg>tAg	p.W871*	PHKB_ENST00000323584.5_Nonsense_Mutation_p.W878*|PHKB_ENST00000299167.8_Nonsense_Mutation_p.W878*|PHKB_ENST00000566044.1_Nonsense_Mutation_p.W871*			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	878					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGTTTCAGGTGGATCATCCAT	0.443000													46	53					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350570	24350570	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:24350570G>A	ENST00000175238.6	+	16	1753	c.1670G>A	c.(1669-1671)gGa>gAa	p.G557E	ADAM7_ENST00000520720.1_Missense_Mutation_p.G329E|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G557E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	557	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTCAGATGTGGAAAGATCTAC	0.448000													4	34					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805624	106805624	+	RNA	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:106805624G>A	ENST00000438142.2	-	0	92																											CCAGCAGGAGGAAGAACCACA	0.522000													22	64					0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38774391	38774391	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:38774391T>A	ENST00000301244.7	+	2	666	c.231T>A	c.(229-231)aaT>aaA	p.N77K	SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_Missense_Mutation_p.N27K	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	77	BPTI/Kunitz inhibitor 1.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACAGCAATAATTACCTGACCA	0.473000													48	51					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527848	43527848	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:43527848G>A	ENST00000220420.5	-	10	1540	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	TGM5_ENST00000349114.4_Silent_p.F429F	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	511					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGAGCAGCTTGAATTTCAGGG	0.562000													23	32					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42807321	42807321	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:42807321C>T	ENST00000315005.3	+	4	412	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	DBF4B_ENST00000393547.2_Missense_Mutation_p.R92C|DBF4B_ENST00000398338.3_Missense_Mutation_p.R92C|DBF4B_ENST00000526915.1_3'UTR	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	92	BRCT.				cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CGTGTCCAGCCGCAGAGAAGT	0.493000													32	45					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													3	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179548796	179548796	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:179548796C>T	ENST00000589042.1	-	133	32960	c.32736G>A	c.(32734-32736)ccG>ccA	p.P10912P	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.P10595P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.P9668P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10595	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTCTCTTCGGTTCCTCTG	0.368000													11	38					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133236	38133236	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:38133236C>T	ENST00000301659.4	+	12	1381	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	421					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ATATGTGGGACCCAGACACCC	0.577000													37	62					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216173863	216173863	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:216173863A>C	ENST00000366943.2	-	33	6753	c.6367T>G	c.(6367-6369)Tgc>Ggc	p.C2123G	USH2A_ENST00000307340.3_Missense_Mutation_p.C2123G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2123	Fibronectin type-III 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATGTGTGCATGCACTTAGT	0.453000										HNSCC(13;0.011)			37	58					0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220039815	220039815	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:220039815G>A	ENST00000409789.1	-	5	703	c.276C>T	c.(274-276)tcC>tcT	p.S92S	CNPPD1_ENST00000360507.5_Silent_p.S92S			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	92					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TAGCACATGGGGAGATGCATG	0.502000													7	42					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108219053	108219053	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:108219053G>A	ENST00000273353.3	-	5	524	c.468C>T	c.(466-468)gtC>gtT	p.V156V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	156	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGCGGCCATGACTTCTTTCT	0.468000													29	38					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564169	103564169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:103564169C>T	ENST00000285402.3	+	1	370	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	72	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGATCTCTACCCATGTTGCCT	0.488000													88	61					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132334550	132334550	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:132334550C>T	ENST00000360564.1	+	9	1510	c.1408C>T	c.(1408-1410)Ccc>Tcc	p.P470S	MMP17_ENST00000535291.1_Missense_Mutation_p.P386S|MMP17_ENST00000535004.1_Missense_Mutation_p.P10S	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	470	Hemopexin-like 3.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CGCCCAGAGCCCCCTGTGGAG	0.652000													31	49					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655604	19655604	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:19655604C>T	ENST00000586018.1	+	8	2370	c.2268C>T	c.(2266-2268)acC>acT	p.T756T	CILP2_ENST00000291495.4_Silent_p.T750T			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	750						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACAAGTTCACCCCCAGCGAGC	0.687000													9	5					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18631235	18631235	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:18631235C>T	ENST00000406451.3	+	5	653	c.503C>T	c.(502-504)tCc>tTc	p.S168F	HDAC9_ENST00000456174.2_Missense_Mutation_p.S140F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S171F|HDAC9_ENST00000405010.3_Missense_Mutation_p.S168F|HDAC9_ENST00000432645.2_Missense_Mutation_p.S168F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S171F|HDAC9_ENST00000428307.2_Missense_Mutation_p.S168F|HDAC9_ENST00000417496.2_Missense_Mutation_p.S210F|HDAC9_ENST00000524023.1_Missense_Mutation_p.S137F|HDAC9_ENST00000406072.1_Missense_Mutation_p.S199F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	168					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAAAATCATTCCGTGAGCCGC	0.463000													48	42					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21909484	21909484	+	RNA	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:21909484G>A	ENST00000581223.2	+	0	209					NR_027084.1																						TTGTCCGGCAGGAGAGGAGCA	0.532000													2	1					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95508169	95508169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:95508169C>T	ENST00000380180.3	+	9	792	c.641C>T	c.(640-642)cCc>cTc	p.P214L	PDLIM5_ENST00000538141.1_Missense_Mutation_p.P194L|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P214L|PDLIM5_ENST00000450793.1_Missense_Mutation_p.P214L|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000317968.4_Intron|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P194L	NM_001011515.2	NP_001011515.1	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	0					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GTCTTTAGTCCCAAATACACA	0.393000													12	14					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571687	19571687	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:19571687C>T	ENST00000507958.1	-	10	2244		c.e10+1		CDH18_ENST00000382275.1_Splice_Site|CDH18_ENST00000274170.4_Splice_Site|CDH18_ENST00000511273.1_Splice_Site|CDH18_ENST00000506372.1_Splice_Site|CDH18_ENST00000502796.1_Splice_Site			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCATGCCATACCTTACTAAGC	0.363000													42	42					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		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.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(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)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_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				72	49					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976737	46976737	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:46976737C>T	ENST00000371956.4	+	3	494	c.479C>T	c.(478-480)aCc>aTc	p.T160I	DMBX1_ENST00000360032.3_Missense_Mutation_p.T155I	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	160					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTCCAGATACCCAGCTGGAC	0.642000													45	94					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197024887	197024887	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:197024887G>A	ENST00000367412.1	-	8	1355	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	438	Sushi 7.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGTTCGCAACGAGATATTTTT	0.413000													38	63					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93129436	93129436	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:93129436C>T	ENST00000298050.3	+	11	1371	c.1271C>T	c.(1270-1272)aCt>aTt	p.T424I	CCDC67_ENST00000525646.1_Missense_Mutation_p.T166I	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	424										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GCTGTCAGAACTGAAAACACA	0.299000													4	4					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126726729	126726729	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:126726729C>T	ENST00000251772.4	+	8	2085	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	PLXNA1_ENST00000393409.2_Silent_p.F695F			Q9UIW2	PLXA1_HUMAN	plexin A1	695					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)		ACTGCGCCTTCCTGGAGGGCC	0.602000													32	61					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100693850	100693850	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:100693850G>A	ENST00000306151.4	+	7	12872	c.12808G>A	c.(12808-12810)Gaa>Aaa	p.E4270K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4270	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E4270K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAATGCCACCGAAGTAGTGAA	0.463000													35	65					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969113	106969113	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:106969113G>A	ENST00000369066.3	+	2	3293	c.2806G>A	c.(2806-2808)Gat>Aat	p.D936N		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	936							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGATCTGGATTCACGAAG	0.363000													55	13					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714536	28714536	+	Splice_Site	SNP	A	A	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:28714536A>T	ENST00000257197.3	-	12	2136	c.1876_splice	c.e12+1	p.D625_splice	DSC1_ENST00000257198.5_Splice_Site_p.D625_splice|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	625	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTACATACCATCCTTTTCTT	0.333000													5	14					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649133	51649133	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:51649133G>A	ENST00000317643.6	+	4	851	c.782G>A	c.(781-783)aGc>aAc	p.S261N	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.S168N|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	261	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGGGGAACAGCTCATCTCTT	0.522000													64	107					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904651	5904651	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:5904651C>T	ENST00000378961.4	+	4	2065	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	621						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCTGAGTTTCCAGACTTCTA	0.542000													21	19					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57719742	57719742	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:57719742C>T	ENST00000333493.4	+	11	1605	c.1444C>T	c.(1444-1446)Ctc>Ttc	p.L482F	GPR97_ENST00000450388.3_Missense_Mutation_p.L362F|GPR97_ENST00000327655.6_Missense_Mutation_p.L272F|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	482					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGCTGGGCCTCTCGAGCCT	0.602000													44	49					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355818	201355818	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:201355818C>T	ENST00000391967.2	-	3	972	c.671G>A	c.(670-672)aGa>aAa	p.R224K	LAD1_ENST00000367313.3_Missense_Mutation_p.R238K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	224	8 X SEK repeats.					basement membrane	structural molecule activity	p.R224I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGAGCTGTTTCTTTTCTCTGA	0.502000													76	95					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285713	238285713	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:238285713C>T	ENST00000295550.4	-	7	3224	c.2772G>A	c.(2770-2772)caG>caA	p.Q924Q	COL6A3_ENST00000392004.3_Silent_p.Q718Q|COL6A3_ENST00000472056.1_Silent_p.Q317Q|COL6A3_ENST00000392003.2_Silent_p.Q517Q|COL6A3_ENST00000353578.4_Silent_p.Q718Q|COL6A3_ENST00000409809.1_Silent_p.Q718Q|COL6A3_ENST00000346358.4_Silent_p.Q724Q|COL6A3_ENST00000347401.3_Silent_p.Q723Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	924	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATGTACCTCTGTGCATAGT	0.532000													24	69					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147861050	147861050	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:147861050C>T	ENST00000513335.1	-	4	275	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	TTC29_ENST00000398886.4_Missense_Mutation_p.E26K|RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000325106.4_5'UTR			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	0							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GTGGTCATTTCGGACTACAAA	0.413000													5	8					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7980198	7980198	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:7980198C>T	ENST00000543909.1	-	12	1585	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	SLC2A14_ENST00000396589.2_Missense_Mutation_p.E276K|SLC2A14_ENST00000542546.1_Missense_Mutation_p.E167K|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E167K|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E253K|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E291K|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E253K			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	276					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ACTTGCTTTTCTTGTGACATC	0.512000													23	42					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113286217	113286217	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:113286217G>A	ENST00000362072.3	-	5	993	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	DRD2_ENST00000544518.1_Missense_Mutation_p.R216C|DRD2_ENST00000542968.1_Missense_Mutation_p.R217C|DRD2_ENST00000538967.1_Missense_Mutation_p.R217C|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.R217C|DRD2_ENST00000346454.3_Missense_Mutation_p.R217C	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	217	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGGCGTCTGCGGAGGACAATG	0.572000													49	71					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073548	74073548	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:74073548C>T	ENST00000370367.3	+	3	672	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.R207C(1)									CCAGCGGTTTCGCGAGGATGC	0.622000													32	36					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023536	206023536	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:206023536C>T	ENST00000406610.2	+	11	1732	c.1525C>T	c.(1525-1527)Ctc>Ttc	p.L509F	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Missense_Mutation_p.L509F|PARD3B_ENST00000462231.1_Missense_Mutation_p.L509F|PARD3B_ENST00000349953.3_Missense_Mutation_p.L509F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	509	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTCTGCTGGCCTCGGGGTGAG	0.498000													51	41					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503686	40503686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:40503686C>T	ENST00000589109.1	-	4	448	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	RIT2_ENST00000326695.5_Missense_Mutation_p.E93K|RIT2_ENST00000282028.4_Missense_Mutation_p.E93K|RIT2_ENST00000590910.1_Silent_p.G113G	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	93					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGAAGCCTTCCCCACCTCGC	0.428000													130	206					0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100530	93100530	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:93100530C>T	ENST00000544406.2	+	2	389	c.123C>T	c.(121-123)gcC>gcT	p.A41A	C12orf74_ENST00000397833.3_Silent_p.A41A			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	41										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ACCGGCAAGCCCCAGGCCGCA	0.642000													30	33					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052395	50052395	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:50052395G>A	ENST00000376042.1	+	6	1524	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.G409E			Q8WWL7	CCNB3_HUMAN	cyclin B3	409					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATCACCTCTGGAGAGAAGTCG	0.468000													50	50					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572699	140572699	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:140572699C>T	ENST00000239446.4	+	1	758	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGATATATCCAGAGCTAGT	0.507000													111	33					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269602	150269602	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:150269602C>T	ENST00000255945.2	+	3	619	c.444C>T	c.(442-444)ttC>ttT	p.F148F	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.F162F	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	148							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTAGAAGTTTCATGATTCTCA	0.448000													35	121					0	0	1	0	0
IER2	9592	broad.mit.edu	37	19	13264475	13264475	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:13264475C>T	ENST00000588173.1	+	1	1687	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Missense_Mutation_p.R159C|IER2_ENST00000292433.3_Missense_Mutation_p.R159C|CTC-250I14.6_ENST00000586483.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	159										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			AGTCGCCGATCGCCTGCAGCC	0.687000											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	7					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141816481	141816481	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:141816481C>T	ENST00000389484.3	-	9	2350	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	460					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGATAAATTCGGATTCCCCA	0.343000										TSP Lung(27;0.18)			9	34					0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73316468	73316468	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:73316468G>A	ENST00000392562.1	-	6	1417	c.635C>T	c.(634-636)cCc>cTc	p.P212L	GRB2_ENST00000578961.1_Missense_Mutation_p.P156S|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392563.1_Missense_Mutation_p.P171L|GRB2_ENST00000392564.1_Missense_Mutation_p.P212L|GRB2_ENST00000316804.5_Missense_Mutation_p.P212L|GRB2_ENST00000316615.5_Missense_Mutation_p.P171L			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	212	SH3 2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CCGGTTCACGGGGGTGACATA	0.453000													93	169					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64117137	64117137	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:64117137C>T	ENST00000356786.5	+	16	2903	c.2859C>T	c.(2857-2859)ttC>ttT	p.F953F	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.F105F|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	953					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGAGCTGTTCCAGGTGATGC	0.657000													3	12					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36939176	36939176	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:36939176A>C	ENST00000373103.1	-	6	1080	c.533T>G	c.(532-534)gTg>gGg	p.V178G	CSF3R_ENST00000418048.2_Missense_Mutation_p.V178G|CSF3R_ENST00000373104.1_Missense_Mutation_p.V178G|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178G|CSF3R_ENST00000331941.5_Missense_Mutation_p.V178G|CSF3R_ENST00000373106.1_Missense_Mutation_p.V178G|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178G|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178G	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	178	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCCTTGGGCACGCAGTCCAG	0.612000													39	42					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999627	46999627	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:46999627C>T	ENST00000374314.4	+	1	1702	c.747C>T	c.(745-747)gcC>gcT	p.A249A	GPRIN2_ENST00000374317.1_Silent_p.A249A			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	249										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCTGCCATGCCCTACCTGCCA	0.607000													23	48					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029918	95029918	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:95029918C>A	ENST00000557004.1	+	2	520	c.99C>A	c.(97-99)aaC>aaA	p.N33K	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.N33K|SERPINA4_ENST00000555095.1_Missense_Mutation_p.N33K			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	33					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GTTGCAGTAACAGCTCCCACC	0.557000													37	54					2.19358e-23	2.20444e-23	1	1	0
FER1L6	654463	broad.mit.edu	37	8	124988215	124988215	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:124988215G>A	ENST00000522917.1	+	9	967	c.761G>A	c.(760-762)gGg>gAg	p.G254E	FER1L6_ENST00000399018.1_Missense_Mutation_p.G254E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	254	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAGCAGAAGGGTTGCCCAAA	0.483000													50	164					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30131818	30131818	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:30131818G>A	ENST00000376694.4	+	1	826	c.357G>A	c.(355-357)ctG>ctA	p.L119L	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	119					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGGGGTTCCTGGACGAGGCCA	0.587000													24	66					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548927	50548927	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:50548927G>A	ENST00000595661.1	+	6	1722	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Silent_p.G409G|ZNF473_ENST00000445728.3_Silent_p.G397G|ZNF473_ENST00000270617.3_Silent_p.G409G|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	409	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACGAACGTGGGAAATCCTTCA	0.498000													53	62					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28149630	28149630	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:28149630G>A	ENST00000305242.5	-	19	3037	c.2945C>T	c.(2944-2946)gCg>gTg	p.A982V	ARMC4_ENST00000537576.1_Missense_Mutation_p.A674V|ARMC4_ENST00000545014.1_Missense_Mutation_p.A507V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	982							binding	p.A982V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGAGCTGTCGCCCGATGCAC	0.498000													42	17					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959966	117959966	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:117959966G>A	ENST00000310164.2	+	4	1266	c.759G>A	c.(757-759)ccG>ccA	p.P253P		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GCTCCCCACCGATAGTGATCG	0.522000													31	46					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92508952	92508952	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:92508952C>T	ENST00000371721.3	-	2	1181	c.939G>A	c.(937-939)agG>agA	p.R313R	HTR7_ENST00000371719.2_Silent_p.R313R|HTR7_ENST00000277874.6_Silent_p.R313R|HTR7_ENST00000336152.3_Silent_p.R313R			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	313					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGATGTTTTTCCTTTCATGCT	0.527000													23	10					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47280252	47280252	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:47280252G>A	ENST00000542575.2	-	7	1996	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	SLC1A5_ENST00000594991.1_Silent_p.I280I|SLC1A5_ENST00000412532.2_Silent_p.I228I|SLC1A5_ENST00000434726.2_Silent_p.I254I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	456					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CCACAGCCAGGATCAAGGAGA	0.617000													48	46					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117498	108117498	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:108117498G>A	ENST00000273353.3	-	36	5235	c.5179C>T	c.(5179-5181)Ctt>Ttt	p.L1727F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1727						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTATAGAAAAGATTGATTCTT	0.537000													83	101					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830195	830195	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:830195G>A	ENST00000293892.3	-	3	805	c.806C>T	c.(805-807)cCc>cTc	p.P269L	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	514					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTCCCGGCGGGAGCAGGGGC	0.687000													8	16					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52162753	52162753	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:52162753C>T	ENST00000354534.5	+	17	3184	c.3006C>T	c.(3004-3006)atC>atT	p.I1002I	SCN8A_ENST00000545061.1_Silent_p.I1002I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1002					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCTCAGTGATCCGTATCAAGA	0.537000													18	16					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43770680	43770680	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:43770680C>T	ENST00000372476.3	+	2	296	c.217C>T	c.(217-219)Ccg>Tcg	p.P73S	TIE1_ENST00000538015.1_Missense_Mutation_p.P73S|TIE1_ENST00000441333.2_Missense_Mutation_p.P73S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	73	Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGCGCACCCCGCCCGGGCC	0.726000													10	15					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50723127	50723127	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:50723127C>T	ENST00000404971.1	-	16	4445	c.3106G>A	c.(3106-3108)Gac>Aac	p.D1036N	NRXN1_ENST00000402717.3_Missense_Mutation_p.D988N|NRXN1_ENST00000401710.1_Missense_Mutation_p.D5N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.D988N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D996N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D996N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D996N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	996	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGCTGGTGTCCCTTGATATC	0.433000													6	23					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Missense_Mutation	SNP	G	G	A	rs149915358	byFrequency	TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:121739511G>A	ENST00000379538.3	+	3	287	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	SNCAIP_ENST00000379533.2_Silent_p.T74T|SNCAIP_ENST00000261367.7_Silent_p.T74T|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R18Q|SNCAIP_ENST00000379536.2_Silent_p.T27T|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000504884.2_Silent_p.T27T|SNCAIP_ENST00000503116.2_Silent_p.T74T|SNCAIP_ENST00000261368.8_Silent_p.T27T	NM_001242935.1	NP_001229864.1	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTCAAGACGATCCCAGAAC	0.453000													56	21					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526312	150526312	+	Missense_Mutation	SNP	G	G	A	rs150503018		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:150526312G>A	ENST00000271643.4	+	6	1081	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R282Q|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R282Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R282Q	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	282					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTCAGCCACGAAGGCCAAGT	0.662000													39	34					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171857	106171857	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:106171857C>T	ENST00000541806.1	+	2	918	c.399C>T	c.(397-399)ttC>ttT	p.F133F	CLDN2_ENST00000336803.1_Silent_p.F133F|CLDN2_ENST00000540876.1_Silent_p.F133F	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	133					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCCTGGGATTCATTCCTGTTG	0.517000													67	83					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41939175	41939175	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:41939175G>A	ENST00000317310.4	+	7	936	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	299						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GACTGCGGAGGAAAAGGAAGC	0.602000													6	18					0	0	1	0	0
LOC283683	283683	broad.mit.edu	37	15	23114279	23114279	+	RNA	SNP	C	C	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:23114279C>A	ENST00000557922.1	-	0	153					NR_040057.1																						CCAGCTTCCTCCCAGTTCTCA	0.433000													14	17					2.31682e-05	2.31682e-05	1	1	0
GGH	8836	broad.mit.edu	37	8	63938771	63938771	+	Silent	SNP	A	A	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:63938771A>G	ENST00000260118.6	-	5	847	c.445T>C	c.(445-447)Tta>Cta	p.L149L	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	149	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	GCAGTTAATAAGCACTCTCCA	0.438000													20	44					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:34851465C>T	ENST00000360581.1	+	4	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Silent_p.F156F|NPSR1_ENST00000531252.1_Silent_p.F145F|NPSR1_ENST00000381539.3_Silent_p.F156F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000													54	36					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68930098	68930098	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:68930098G>A	ENST00000288368.4	+	2	436	c.159G>A	c.(157-159)atG>atA	p.M53I	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	53	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TACACAGAATGAACCAGTGTG	0.373000													11	12					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959445	27959445	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:27959445G>A	ENST00000269033.3	-	15	2837	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	SSH2_ENST00000540801.1_Missense_Mutation_p.R923C|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	896					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATTCTTACGAGTGGACAAT	0.512000													153	209					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43575640	43575640	+	Silent	SNP	G	G	A	rs150151819		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:43575640G>A	ENST00000216129.6	-	5	888	c.825C>T	c.(823-825)ccC>ccT	p.P275P		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	275					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				AGTGCTCGGCGGGCGGCTCGG	0.617000													79	91					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40433515	40433515	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:40433515A>T	ENST00000372809.5	+	11	1317	c.1174A>T	c.(1174-1176)Agt>Tgt	p.S392C	MFSD2A_ENST00000420632.2_Missense_Mutation_p.S223C|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.S379C	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	392					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCTCATGGAGAGTAACCTCAT	0.547000													33	45					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111854319	111854319	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:111854319C>T	ENST00000369740.1	+	3	137	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000343320.6_Missense_Mutation_p.L12F	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	12					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AGGTCTTGTCCTTATACTGAA	0.383000													70	111					0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47193054	47193054	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:47193054C>T	ENST00000524782.1	-	10	1092	c.864G>A	c.(862-864)gaG>gaA	p.E288E	ARFGAP2_ENST00000426335.2_Silent_p.E152E|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Silent_p.E19E|ARFGAP2_ENST00000419701.2_Silent_p.E181E	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	288	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTTCTTTTCCTCTTTCTTAC	0.567000													52	85					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746815	156746815	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:156746815G>A	ENST00000347377.6	+	14	1833	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	CYFIP2_ENST00000318218.6_Missense_Mutation_p.E468K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E468K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E393K|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E142K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E272K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E442K	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	468					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCAGGATGGAGAGCGTCTT	0.607000													50	9					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33652667	33652667	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:33652667G>A	ENST00000374316.5	+	40	6314	c.5254G>A	c.(5254-5256)Gag>Aag	p.E1752K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E1752K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1752					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GATCTTCCAGGAGAGCATCGG	0.632000													53	120					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921298	24921298	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:24921298G>A	ENST00000329468.2	+	1	758	c.284G>A	c.(283-285)aGg>aAg	p.R95K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGGCCATCAGGAAGACACCC	0.672000													21	23					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215847452	215847452	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:215847452G>A	ENST00000366943.2	-	63	14187	c.13801C>T	c.(13801-13803)Cca>Tca	p.P4601S	USH2A_ENST00000307340.3_Missense_Mutation_p.P4601S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4601	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTGAAATGGCTTCAGCTGG	0.393000										HNSCC(13;0.011)			100	84					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140996	143140996	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:143140996C>T	ENST00000332690.1	+	1	451	c.451C>T	c.(451-453)Ctc>Ttc	p.L151F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	151					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTCTGTAGGGCTCTCCAGCTT	0.453000													149	90					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465884	223465884	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:223465884T>G	ENST00000343846.3	-	2	891	c.258A>C	c.(256-258)caA>caC	p.Q86H	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.Q86H|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.Q86H			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	86	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGAATCCGTCTTGGCAGTGAA	0.512000													82	88					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41008456	41008456	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:41008456G>A	ENST00000308423.2	+	4	2341	c.2181G>A	c.(2179-2181)ggG>ggA	p.G727G	AOC3_ENST00000591562.1_Silent_p.G184G	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	727					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACTTCCGAGGGGACCAGGATG	0.632000													29	35					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891340	18891340	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:18891340C>T	ENST00000317658.3	+	1	296	c.138C>T	c.(136-138)caC>caT	p.H46H		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	46					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TTATGCACCACCAAGGTGAGT	0.458000													39	39					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014536	53014536	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:53014536C>T	ENST00000421239.2	+	6	1146	c.902C>T	c.(901-903)tCc>tTc	p.S301F	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TACAAGTCATCCCTGACATGC	0.418000													59	72					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941127	37941127	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:37941127C>T	ENST00000373087.6	+	2	146	c.30C>T	c.(28-30)gtC>gtT	p.V10V		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	10					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAAGCCTGTCCTGGAAGCCA	0.617000													81	86					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117658007	117658007	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:117658007C>T	ENST00000317775.6	-	27	4728	c.4043G>A	c.(4042-4044)gGg>gAg	p.G1348E	NOS1_ENST00000338101.4_Missense_Mutation_p.G1382E|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1348					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TATGTGGCCCCCTTGCTCCTT	0.602000													52	132					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016471	27016471	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:27016471C>T	ENST00000318627.2	+	1	844	c.398C>T	c.(397-399)tCg>tTg	p.S133L		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	133						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TACTCCAACTCGGACAAATCC	0.582000													34	48					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411506	23411506	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:23411506C>T	ENST00000379361.4	+	3	2731	c.1871C>T	c.(1870-1872)tCa>tTa	p.S624L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	624					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCTCAATTTTCACATTTTCAA	0.383000													48	57					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456286	27456286	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:27456286G>A	ENST00000264705.4	+	20	3260	c.3098G>A	c.(3097-3099)cGg>cAg	p.R1033Q	CAD_ENST00000403525.1_Missense_Mutation_p.R970Q	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1033	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.R1033Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAGCAGTGCCGGGTGCTGGGC	0.572000													3	42					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251253	25251253	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:25251253G>A	ENST00000328086.7	-	7	3591	c.2788C>T	c.(2788-2790)Ctt>Ttt	p.L930F		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	930					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTTTGGTAAGAACAGAACTC	0.458000													36	58					0	0	1	0	0
DEFB128	245939	broad.mit.edu	37	20	168710	168710	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:168710C>T	ENST00000334391.4	-	2	156	c.99G>A	c.(97-99)agG>agA	p.R33R		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	33					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGCATTTCTTCCTGCAATAGC	0.378000													106	110					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196682499	196682499	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:196682499C>T	ENST00000312428.6	-	50	9446	c.9346G>A	c.(9346-9348)Gga>Aga	p.G3116R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3116	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCACAATTCCCAGAAGCTGA	0.328000													7	20					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50895538	50895538	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:50895538G>A	ENST00000380817.2	-	29	4012	c.3829C>T	c.(3829-3831)Ccc>Tcc	p.P1277S	SBF1_ENST00000390679.3_Intron|SBF1_ENST00000348911.6_Intron|SBF1_ENST00000476293.1_5'UTR	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1275	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGGGCTGGGAACTGAGGGC	0.697000													7	7					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61919987	61919987	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:61919987C>T	ENST00000332981.5	+	7	1261	c.876C>T	c.(874-876)gcC>gcT	p.A292A	PRKCH_ENST00000555082.1_Silent_p.A131A	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	292					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CGAACGTGGCCCCTAACTGTG	0.463000													36	46					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101599431	101599431	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:101599431C>T	ENST00000310954.6	-	4	1142	c.856G>A	c.(856-858)Gga>Aga	p.G286R		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	286					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGCAGTTGTCCTCCCAATACA	0.363000													52	10					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213061837	213061837	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:213061837C>T	ENST00000366971.4	+	7	1512	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	438					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTAGCTTCTTCATGACTGGTT	0.398000													37	46					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997941	115997941	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:115997941C>T	ENST00000264363.2	-	2	930	c.252G>A	c.(250-252)gtG>gtA	p.V84V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	84	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTGGCTCTCCACGAAGAGAA	0.428000													34	37					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228444593	228444593	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:228444593G>A	ENST00000570156.2	+	16	4901	c.4827G>A	c.(4825-4827)ggG>ggA	p.G1609G	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.G81G|OBSCN_ENST00000284548.11_Silent_p.G1517G|OBSCN_ENST00000422127.1_Silent_p.G1517G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	590	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAGGCGGGGAGCCAGCGGC	0.647000													69	60					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921299	24921299	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:24921299G>A	ENST00000329468.2	+	1	759	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGGCCATCAGGAAGACACCCA	0.667000													21	25					0	0	1	0	0
IGKV1-12	28940	broad.mit.edu	37	2	89340012	89340012	+	RNA	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:89340012G>A	ENST00000480492.1	-	0	106																											TGTCGCATCTGGAACCTGAGA	0.463000													48	110					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112673351	112673351	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:112673351G>A	ENST00000550722.1	-	36	5639	c.5244C>T	c.(5242-5244)atC>atT	p.I1748I	HECTD4_ENST00000430131.2_Silent_p.I1472I|HECTD4_ENST00000377560.5_Silent_p.I1722I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCAGGGAGGCGATCTTGGAAG	0.562000													32	23					0	0	1	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292043	89292043	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:89292043C>T	ENST00000495489.1	-	0	282																											TGATGGGACCCCACTTTGCAA	0.493000													56	166					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158505046	158505046	+	Silent	SNP	A	A	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:158505046A>G	ENST00000355585.4	+	22	3123	c.3048A>G	c.(3046-3048)gaA>gaG	p.E1016E	SYNJ2_ENST00000367112.1_Silent_p.E101E|SYNJ2_ENST00000367122.2_Silent_p.E1016E|SYNJ2_ENST00000367121.3_Silent_p.E1016E	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1016							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)		ATATTCTTGAAGACGATGAAG	0.522000													166	53					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887805	25887805	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:25887805G>A	ENST00000376351.3	+	11	3609	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1084						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATTTTGGAAGATGAGAAGCT	0.512000													38	14					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559180	41559180	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr21:41559180G>T	ENST00000400454.1	-	14	3134	c.2657C>A	c.(2656-2658)cCa>cAa	p.P886Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	886	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGAGGGTCTGGGGGCTCTGT	0.478000													6	45					5.9392e-07	5.94897e-07	1	1	0
KIAA0195	9772	broad.mit.edu	37	17	73488620	73488620	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:73488620G>A	ENST00000314256.7	+	15	2056	c.1662G>A	c.(1660-1662)gaG>gaA	p.E554E	KIAA0195_ENST00000375248.5_Silent_p.E564E|KIAA0195_ENST00000579208.1_Silent_p.E205E	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	554					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCACCTGGAGATGCTGAGCC	0.607000													29	48					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128293	152128293	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:152128293C>T	ENST00000316073.3	-	3	1346	c.1282G>A	c.(1282-1284)Ggt>Agt	p.G428S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	428	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGTCTGACCGTAGTGAGAA	0.522000													478	860					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75959144	75959144	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:75959144T>C	ENST00000307428.7	+	3	1033	c.821T>C	c.(820-822)tTt>tCt	p.F274S	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Missense_Mutation_p.F32S	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	274					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTGCTGGTGTTTGGAGTTGCA	0.512000													5	8					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45624018	45624018	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:45624018C>T	ENST00000267430.5	+	7	1387	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	FANCM_ENST00000556036.1_Silent_p.I434I|FANCM_ENST00000542564.2_Silent_p.I408I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	434					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTCTGCTATCCAACAAGGTC	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	47					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116580085	116580085	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:116580085T>C	ENST00000540275.1	+	2	600	c.479T>C	c.(478-480)cTg>cCg	p.L160P				Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	0					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AATGGGACACTGAGCTTTGTG	0.507000													9	14					0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219222367	219222367	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:219222367G>A	ENST00000289388.3	+	3	258	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	77										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAATACCAGGAAAAACTCGG	0.552000													12	46					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40733246	40733246	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:40733246G>A	ENST00000373198.3	-	26	3804	c.3569C>T	c.(3568-3570)cCc>cTc	p.P1190L	PTPRT_ENST00000373201.1_Missense_Mutation_p.P1158L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P1168L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1171L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1178L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1167L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1177L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1168	Tyrosine-protein phosphatase 2.		R -> W (in a colorectal cancer; reduced phosphatase activity).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTTGTCTGGGGGTCCAGCCT	0.483000													69	85					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8021971	8021971	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:8021971G>A	ENST00000296372.8	-	12	1370	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P443S|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P410S|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P410S|ABLIM2_ENST00000361581.5_Missense_Mutation_p.P410S|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000546334.1_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	410					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TAGGTGGAGGGGGGCGGCTTG	0.627000													21	33					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44915955	44915955	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:44915955C>T	ENST00000429094.2	-	18	2507	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	NELL2_ENST00000551601.1_Missense_Mutation_p.G620E|NELL2_ENST00000549027.1_Missense_Mutation_p.G667E|NELL2_ENST00000395487.2_Missense_Mutation_p.G667E|NELL2_ENST00000452445.2_Missense_Mutation_p.G668E|NELL2_ENST00000437801.2_Missense_Mutation_p.G718E|NELL2_ENST00000333837.4_Missense_Mutation_p.G691E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	668	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.G718E(1)|p.G668E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CATAACGAATCCATTCTGTAT	0.443000													18	21					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73997411	73997411	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:73997411C>T	ENST00000331597.4	-	6	840	c.795G>A	c.(793-795)agG>agA	p.R265R	P4HA3_ENST00000427714.2_Silent_p.R265R	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	265						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCAAGACATTCCTGGCCATCC	0.502000													71	97					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664277	179664277	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:179664277G>A	ENST00000589042.1	-	6	1075	c.851C>T	c.(850-852)tCg>tTg	p.S284L	TTN_ENST00000342175.6_Missense_Mutation_p.S284L|TTN_ENST00000359218.5_Missense_Mutation_p.S284L|TTN_ENST00000591111.1_Missense_Mutation_p.S284L|TTN_ENST00000460472.2_Missense_Mutation_p.S284L|TTN_ENST00000342992.6_Missense_Mutation_p.S284L|TTN_ENST00000360870.5_Missense_Mutation_p.S284L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	284	ZIS1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTATGGGCGATGGGGACTG	0.562000													17	36					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127427	55127427	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:55127427G>A	ENST00000257290.5	+	3	546	c.215G>A	c.(214-216)aGa>aAa	p.R72K	PDGFRA_ENST00000508170.1_Missense_Mutation_p.R72K|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	72	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGGAAATCAGAAATGAAGAA	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			71	106					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98188433	98188433	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:98188433C>T	ENST00000357947.3	-	5	818	c.593G>A	c.(592-594)aGg>aAg	p.R198K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	198	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTCATCCGTCCTTTCTATGAA	0.493000													41	8					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316101	125316101	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:125316101C>T	ENST00000373688.2	+	1	711	c.653C>T	c.(652-654)aCc>aTc	p.T218I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATGATCATCACCATGGGCTTG	0.502000													96	144					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902811	22902811	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:22902811C>T	ENST00000166244.3	+	3	333	c.261C>T	c.(259-261)agC>agT	p.S87S	EPHA8_ENST00000538803.1_Silent_p.S87S|EPHA8_ENST00000374644.4_Silent_p.S87S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	87						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCGCACGAGCTGGGTCCCCC	0.617000													54	77					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8082387	8082387	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:8082387C>T	ENST00000075120.7	-	6	994	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	252					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ACTTGCTTTTCTTGTGACATC	0.507000													13	67					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37653049	37653049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:37653049C>T	ENST00000378588.4	+	5	536	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CYBB_ENST00000545017.1_Nonsense_Mutation_p.R125*|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	157	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CAATTTTGCTCGAAAGAGAAT	0.398000													37	41					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134144186	134144186	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:134144186T>C	ENST00000220616.4	+	46	8033	c.7993T>C	c.(7993-7995)Tca>Cca	p.S2665P	TG_ENST00000542445.1_Missense_Mutation_p.S1035P|TG_ENST00000519543.1_Missense_Mutation_p.S798P|TG_ENST00000377869.1_Missense_Mutation_p.S2608P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2665					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCATCAGATCAGGGTAATT	0.493000													24	74					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85994853	85994853	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:85994853C>T	ENST00000373131.1	+	6	1332	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000510272.1_Missense_Mutation_p.P184L|DACH2_ENST00000508860.1_Missense_Mutation_p.P236L|DACH2_ENST00000373125.4_Missense_Mutation_p.P403L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.P403L(1)|p.P390L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCCAGCTCTCCCTCTCAGATG	0.453000													10	15					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	68					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852066	14852066	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:14852066G>A	ENST00000358984.4	+	36	3946	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1341										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGATCTAAGAGAAAATGCATT	0.348000													10	13					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105428098	105428098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:105428098C>T	ENST00000258494.9	-	19	2364	c.2224G>A	c.(2224-2226)Gac>Aac	p.D742N	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	742	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACAAATTCGTCGTGGATGGAT	0.418000													13	16					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140622918	140622918	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:140622918C>T	ENST00000460843.1	+	4	787	c.760C>T	c.(760-762)Cca>Tca	p.P254S	EHMT1_ENST00000334856.6_Missense_Mutation_p.P223S|EHMT1_ENST00000462484.1_Missense_Mutation_p.P254S|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	254					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACCCCCCTTCCCATCCCTTCA	0.473000													53	68					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100169397	100169397	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:100169397G>A	ENST00000547776.2	-	7	889	c.890C>T	c.(889-891)cCt>cTt	p.P297L	ANKS1B_ENST00000329257.7_Missense_Mutation_p.P297L|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	297						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCCTGTACAGGCTCTTCGAG	0.363000													8	20					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874229	24874229	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:24874229G>A	ENST00000313367.2	-	15	2073	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	OSBPL3_ENST00000431825.2_Missense_Mutation_p.S474F|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S510F|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S505F|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S505F|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S474F|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S510F	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	541					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGCCACCTTGGACAGGTCCTT	0.637000													89	72					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94918623	94918623	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:94918623G>A	ENST00000536441.1	-	5	895	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	SESN3_ENST00000278499.2_Silent_p.L48L|SESN3_ENST00000393234.1_Silent_p.L187L|SESN3_ENST00000416495.2_Silent_p.L187L|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	187					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		AGTTCAGGCAGAGACCAATTA	0.363000													56	87					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58348435	58348435	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:58348435C>T	ENST00000371015.1	+	6	1320	c.853C>T	c.(853-855)Cac>Tac	p.H285Y	PHACTR3_ENST00000355648.4_Missense_Mutation_p.H244Y|PHACTR3_ENST00000541461.1_Missense_Mutation_p.H244Y|PHACTR3_ENST00000361300.4_Missense_Mutation_p.H174Y|PHACTR3_ENST00000359926.3_Missense_Mutation_p.H282Y|PHACTR3_ENST00000395639.4_Missense_Mutation_p.H174Y|PHACTR3_ENST00000395636.2_Missense_Mutation_p.H244Y	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	285						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CACCACGGTCCACCGGCCTCT	0.672000													38	57					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23270289	23270289	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:23270289C>T	ENST00000298032.5	+	9	1021	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	ARMC3_ENST00000409049.3_Missense_Mutation_p.H313Y|ARMC3_ENST00000409983.3_Missense_Mutation_p.H313Y|ARMC3_ENST00000376528.4_Missense_Mutation_p.H50Y	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	313							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAACTTTTTCATGAACAAGA	0.353000													7	4					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999626	46999626	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:46999626C>T	ENST00000374314.4	+	1	1701	c.746C>T	c.(745-747)gCc>gTc	p.A249V	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A249V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	249										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGCTGCCATGCCCTACCTGCC	0.607000													23	48					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71012930	71012930	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:71012930C>T	ENST00000393567.2	-	30	4675	c.4525G>A	c.(4525-4527)Gaa>Aaa	p.E1509K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1509										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAGAACATTTCATACTTTTCA	0.418000													14	48					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773736	140773736	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:140773736C>T	ENST00000398604.2	+	1	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTACTTTCCCTCATGCCT	0.517000													18	6					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560364	44560364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:44560364C>T	ENST00000332567.4	-	1	1624	c.1272G>A	c.(1270-1272)tgG>tgA	p.W424*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	424					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TAGCCGAATCCCAGGACTCAC	0.547000													44	74					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440485	40440485	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:40440485G>A	ENST00000319592.4	-	4	1135	c.426C>T	c.(424-426)ctC>ctT	p.L142L	RBM47_ENST00000295971.7_Silent_p.L142L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.L104L|RBM47_ENST00000381795.6_Silent_p.L142L|RBM47_ENST00000381793.2_Silent_p.L142L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	142	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCACACGCCGAGCAGGCGGC	0.627000													28	50					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984736	140984736	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:140984736G>A	ENST00000298296.1	+	7	1192	c.1192G>A	c.(1192-1194)Ggt>Agt	p.G398S	MAGEC3_ENST00000544766.1_Missense_Mutation_p.G100S|MAGEC3_ENST00000536088.1_Missense_Mutation_p.G100S|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Missense_Mutation_p.G20S|MAGEC3_ENST00000409007.1_Missense_Mutation_p.G100S	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	398	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					tcctccccagggtcctcccaa	0.572000													9	3					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473173	22473173	+	RNA	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:22473173G>A	ENST00000557788.2	-	0	97																											GGTCTCCGAAGGCTTCACCAG	0.647000													26	184					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135649738	135649738	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:135649738G>A	ENST00000520727.1	-	4	677	c.378C>T	c.(376-378)atC>atT	p.I126I	ZFAT_ENST00000429442.2_Silent_p.I126I|ZFAT_ENST00000520214.1_Silent_p.I126I|ZFAT_ENST00000520356.1_Silent_p.I126I|ZFAT_ENST00000523399.1_Silent_p.I138I|ZFAT_ENST00000377838.3_Silent_p.I138I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATTCAGCACGATAATGCAGA	0.507000													33	52					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719571	81719571	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:81719571C>T	ENST00000550584.2	-	21	2922	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R876Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R723Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R858Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R858Q|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R443Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R876Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R777Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R876Q|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R93Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R802Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	802										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTTAGTCTTCGATCCTTCTC	0.398000													8	18					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27241707	27241707	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr13:27241707G>C	ENST00000361042.4	+	5	547	c.322G>C	c.(322-324)Gac>Cac	p.D108H	WASF3_ENST00000335327.5_Missense_Mutation_p.D108H|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	108					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CACAGTCCAAGACCAGCAAGT	0.383000													8	70					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422089	1422089	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:1422089C>T	ENST00000270349.9	-	5	821	c.694G>A	c.(694-696)Gac>Aac	p.D232N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D232N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	232					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGCCCCAGGTCGTCGATGCCA	0.647000													45	77					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729163	66729163	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:66729163C>T	ENST00000307102.5	+	3	902	c.371C>T	c.(370-372)cCg>cTg	p.P124L		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TGCAACTCTCCGTACATCGTG	0.512000													45	59					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16007814	16007814	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:16007814G>A	ENST00000350896.3	-	7	1102	c.905C>T	c.(904-906)cCg>cTg	p.P302L	MSR1_ENST00000262101.5_Missense_Mutation_p.P302L|MSR1_ENST00000381998.4_Missense_Mutation_p.P302L|MSR1_ENST00000355282.2_Missense_Mutation_p.P302L|MSR1_ENST00000536385.1_Missense_Mutation_p.P76L|MSR1_ENST00000445506.2_Missense_Mutation_p.P320L	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	302	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTAAGACCCGGAGGACCTAC	0.373000													16	18					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47560197	47560197	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:47560197G>A	ENST00000273859.3	+	12	2610	c.2341G>A	c.(2341-2343)Gtt>Att	p.V781I	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	781					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGAATGTCTGTTGTGGTCCG	0.473000													44	64					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107236477	107236477	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:107236477C>G	ENST00000392837.4	+	5	1098	c.947C>G	c.(946-948)cCc>cGc	p.P316R	RIC8B_ENST00000355478.2_Missense_Mutation_p.P276R|RIC8B_ENST00000392839.2_Missense_Mutation_p.P316R|RIC8B_ENST00000549643.1_Intron			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	316					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GATGAACTGCCCAGTAATAAA	0.373000													27	38					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50016328	50016328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:50016328C>T	ENST00000322246.4	-	1	36	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	13					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACATTTTTTCAAGTTTCAGT	0.328000													12	23					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3103987	3103987	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:3103987C>T	ENST00000359864.2	+	3	245	c.55C>T	c.(55-57)Cct>Tct	p.P19S	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.P19S	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	19					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCCCACCTCCCCTGAGGGGAG	0.642000													45	89					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501522	150501522	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:150501522C>T	ENST00000484928.1	+	6	1209	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	TMEM176A_ENST00000004103.3_Silent_p.L210L|TMEM176A_ENST00000461345.1_Silent_p.L151L			Q96HP8	T176A_HUMAN	transmembrane protein 176A	210						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGACCCCTCTGTGGCTGTA	0.557000													80	58					0	0	1	0	0
USB1	79650	broad.mit.edu	37	16	58035441	58035441	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:58035441C>T	ENST00000219281.3	+	1	165	c.54C>T	c.(52-54)tcC>tcT	p.S18S	USB1_ENST00000565662.1_3'UTR|USB1_ENST00000423271.3_Silent_p.S18S|USB1_ENST00000539737.2_Silent_p.S18S|USB1_ENST00000563149.1_Silent_p.S18S|USB1_ENST00000561743.1_Intron	NM_024598.3	NP_078874.2			U6 snRNA biogenesis 1																		AGGATGAGTCCGAGGACGGGA	0.677000											OREG0023837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	13					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028482	37028482	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:37028482C>T	ENST00000358047.3	+	1	2051	c.1999C>T	c.(1999-2001)Ccc>Tcc	p.P667S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	667										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCCCCCGGAGCC	0.642000													43	76					0	0	1	0	0
DDX19A	55308	broad.mit.edu	37	16	70390100	70390100	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:70390100G>A	ENST00000302243.7	+	4	406	c.243G>A	c.(241-243)cgG>cgA	p.R81R	DDX19A_ENST00000417604.2_Silent_p.R81R|DDX19A_ENST00000562509.1_3'UTR|RP11-529K1.3_ENST00000567706.1_Intron	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TCCTGCAACGGGATCCAAACT	0.502000													129	33					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133091	119133091	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:119133091G>A	ENST00000264245.4	+	12	2847	c.2315G>A	c.(2314-2316)gGa>gAa	p.G772E		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	772	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GTGGAAGTAGGAGGCCCAGGC	0.597000													12	81					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34278473	34278473	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:34278473G>A	ENST00000374092.4	-	5	493	c.423C>T	c.(421-423)ttC>ttT	p.F141F	NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000541387.1_Intron|NFS1_ENST00000397425.1_Silent_p.F81F|NFS1_ENST00000374085.1_Silent_p.F81F	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	141					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GTGACCTGTAGAATCGGGCCA	0.488000													65	116					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27908014	27908014	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:27908014G>A	ENST00000326019.6	+	10	2268	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	662	Glu-rich.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					aagaaaaggaggagCATGAAA	0.493000													21	49					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991649	52991649	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:52991649G>A	ENST00000371544.3	-	2	566	c.304C>T	c.(304-306)Cct>Tct	p.P102S	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.P102S|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P102S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	102					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGTGAATTAGGAAATTTTTTT	0.398000													54	79					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17057989	17057989	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:17057989G>A	ENST00000443236.1	-	21	2729	c.2698C>T	c.(2698-2700)Cct>Tct	p.P900S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	853						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGTTTGCCAGGATGCCCAACA	0.592000													99	33					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41222962	41222962	+	Silent	SNP	G	G	A	rs80359884		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:41222962G>A	ENST00000309486.4	-	14	5108	c.4081C>T	c.(4081-4083)Ctg>Ttg	p.L1361L	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Silent_p.L148L|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000357654.3_Silent_p.L1657L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Silent_p.L1678L|BRCA1_ENST00000493795.1_Silent_p.L1610L|BRCA1_ENST00000352993.3_Silent_p.L515L|BRCA1_ENST00000491747.2_Silent_p.L553L|BRCA1_ENST00000351666.3_Silent_p.L474L|BRCA1_ENST00000468300.1_Silent_p.L553L	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1657					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTGGGGTCAGGCCAGACACC	0.403000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			35	51					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48256178	48256178	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:48256178C>T	ENST00000400384.2	+	6	2754	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	MAPK4_ENST00000540640.1_Missense_Mutation_p.P362L|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	573					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCCGAGCACCCTGGCGACCTC	0.652000													17	19					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389748	150389748	+	Missense_Mutation	SNP	C	C	T	rs144149379		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:150389748C>T	ENST00000223293.5	+	3	468	c.374C>T	c.(373-375)gCt>gTt	p.A125V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	125						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCAGCAGGCTGCACAGAGG	0.552000													15	44					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54024932	54024932	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:54024932G>A	ENST00000185150.4	+	5	621	c.490_splice	c.e5+1	p.E164_splice	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Splice_Site_p.E164_splice|ERLEC1_ENST00000378239.5_Splice_Site_p.E164_splice|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	164	PRKCSH 1.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ATTTGAAAAAGGTTGGTGTCT	0.294000													35	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179494084	179494084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:179494084C>T	ENST00000589042.1	-	240	44592	c.44368G>A	c.(44368-44370)Gaa>Aaa	p.E14790K	TTN_ENST00000342175.6_Missense_Mutation_p.E5917K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5850K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13149K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5725K|TTN_ENST00000342992.6_Missense_Mutation_p.E12222K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13149	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGATATCTTCGTAGGAGAGC	0.493000													18	9					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73562546	73562546	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:73562546C>T	ENST00000339362.5	+	18	3137	c.2690C>T	c.(2689-2691)aCc>aTc	p.T897I	NEO1_ENST00000560262.1_Missense_Mutation_p.T897I|NEO1_ENST00000261908.6_Missense_Mutation_p.T897I|NEO1_ENST00000558964.1_Missense_Mutation_p.T897I			Q92859	NEO1_HUMAN	neogenin 1	897	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CGATGGAAAACCAACATCCCA	0.438000													27	48					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1749036	1749036	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:1749036C>T	ENST00000397196.2	+	4	747	c.515C>T	c.(514-516)gCc>gTc	p.A172V	WNT5B_ENST00000310594.3_Missense_Mutation_p.A172V|WNT5B_ENST00000537031.1_Missense_Mutation_p.A172V|WNT5B_ENST00000542408.1_Intron	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	172					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TACCGCTTCGCCAAGGAGTTT	0.652000													11	29					0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107904	26107904	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:26107904C>T	ENST00000338379.4	-	1	460	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	140					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						GACTTGGAGTCCCTGGATAAA	0.453000													61	97					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12806401	12806401	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:12806401C>T	ENST00000288048.5	+	1	239	c.23C>T	c.(22-24)cCa>cTa	p.P8L	C1orf158_ENST00000474179.1_3'UTR|C1orf158_ENST00000376210.3_Missense_Mutation_p.P8L	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	8										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGTAAATCCACAGCCACTC	0.453000													24	37					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411239	43411239	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:43411239G>A	ENST00000187910.2	-	5	1140	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	PSG6_ENST00000402603.4_Missense_Mutation_p.P266S|PSG6_ENST00000292125.2_Missense_Mutation_p.P359S	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TCTGCCGGTGGGTTAGAGTCC	0.463000													154	189					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821358	72821358	+	Missense_Mutation	SNP	G	G	A	rs145062714	byFrequency	TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:72821358G>A	ENST00000268489.5	-	10	11489	c.10817C>T	c.(10816-10818)tCc>tTc	p.S3606F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2692F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3606					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGAAGCGGAGGAGGGGGCGGC	0.662000													25	17					0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161011928	161011928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:161011928G>A	ENST00000368021.3	-	5	458	c.254C>T	c.(253-255)cCt>cTt	p.P85L	USF1_ENST00000368019.1_Missense_Mutation_p.P85L|USF1_ENST00000368020.1_Missense_Mutation_p.P85L|USF1_ENST00000435396.1_Missense_Mutation_p.P26L	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	85					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTGAGTGGCAGGGTAGCCACT	0.542000													38	48					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740130	15740130	+	RNA	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:15740130G>A	ENST00000441682.2	+	0	1586							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTTGCGTGCGGAGGACGGACT	0.612000													5	5					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156843485	156843485	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:156843485C>T	ENST00000368196.3	+	8	1031	c.911C>T	c.(910-912)tCt>tTt	p.S304F	NTRK1_ENST00000392302.2_Missense_Mutation_p.S274F|NTRK1_ENST00000358660.3_Missense_Mutation_p.S304F|NTRK1_ENST00000524377.1_Missense_Mutation_p.S304F	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	304	Ig-like C2-type 2.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ATCCCCTTCTCTGTGGATGGG	0.627000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			12	16					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135307611	135307611	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:135307611T>C	ENST00000285968.6	+	31	4443	c.4417T>C	c.(4417-4419)Tat>Cat	p.Y1473H		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1473					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATTGAAAGTTATGGCGCCGC	0.398000													94	54					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124361432	124361432	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:124361432G>A	ENST00000368909.3	+	29	3569	c.3463G>A	c.(3463-3465)Gat>Aat	p.D1155N	DMBT1_ENST00000330163.4_Missense_Mutation_p.D656N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1145N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1145N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D1155N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D656N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1155	SRCR 9.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.602000													133	46					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41801262	41801262	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:41801262G>A	ENST00000263800.6	-	8	1159	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	LTK_ENST00000561619.1_Missense_Mutation_p.P37S|LTK_ENST00000453182.2_Missense_Mutation_p.P294S|LTK_ENST00000355166.5_Missense_Mutation_p.P294S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	355					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCGCTGCTGGGGTGTATGAAG	0.587000										TSP Lung(18;0.14)			37	55					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551735	39551735	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:39551735C>T	ENST00000251645.2	-	4	781	c.729G>A	c.(727-729)gtG>gtA	p.V243V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	243	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACCATTGCTCCACTTCCCTGC	0.622000													46	68					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841027	13841027	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:13841027G>A	ENST00000265104.4	-	34	5801	c.5697C>T	c.(5695-5697)atC>atT	p.I1899I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1899	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1899M(1)		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)					GGTCATCAAAGATATCCCTTT	0.383000									Kartagener syndrome				19	50					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350780	146350780	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:146350780G>A	ENST00000392299.2	+	2	597	c.127G>A	c.(127-129)Gga>Aga	p.G43R	GRM1_ENST00000355289.4_Missense_Mutation_p.G43R|GRM1_ENST00000282753.1_Missense_Mutation_p.G43R|GRM1_ENST00000507907.1_Missense_Mutation_p.G43R|GRM1_ENST00000492807.2_Missense_Mutation_p.G43R|GRM1_ENST00000361719.2_Missense_Mutation_p.G43R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	43					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGAATGGACGGAGATGTCAT	0.597000													77	19					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256433	69256433	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:69256433G>A	ENST00000439696.2	-	2	1135	c.834C>T	c.(832-834)ctC>ctT	p.L278L	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.L278L	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	278					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGCCGGAAGAGGAAGGTGG	0.627000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	103					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31617057	31617057	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:31617057G>A	ENST00000404765.2	-	4	631	c.342C>T	c.(340-342)ccC>ccT	p.P114P	BAG6_ENST00000375964.6_Silent_p.P114P|BAG6_ENST00000375976.4_Silent_p.P114P|BAG6_ENST00000439687.2_Silent_p.P114P|BAG6_ENST00000362049.6_Silent_p.P114P|BAG6_ENST00000211379.5_Silent_p.P114P			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	114					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GAGTACCAGGGGGGGATCCCC	0.582000													66	188					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117658008	117658008	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:117658008C>T	ENST00000317775.6	-	27	4727	c.4042G>A	c.(4042-4044)Ggg>Agg	p.G1348R	NOS1_ENST00000338101.4_Missense_Mutation_p.G1382R|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1348					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGTGGCCCCCTTGCTCCTTC	0.602000													53	135					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134481331	134481331	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:134481331G>A	ENST00000339249.4	+	2	428	c.288G>A	c.(286-288)gaG>gaA	p.E96E	ZNF449_ENST00000370761.3_Silent_p.E96E|ZNF449_ENST00000370760.3_Silent_p.E96E	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	96	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCCAGAGAATAGAGAAA	0.468000													27	38					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87115518	87115518	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:87115518T>C	ENST00000359221.3	-	3	563	c.37A>G	c.(37-39)Aca>Gca	p.T13A	MAPK10_ENST00000361569.2_Missense_Mutation_p.T13A|RP11-778J15.1_ENST00000511917.1_RNA|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395166.1_5'UTR|MAPK10_ENST00000395161.2_Missense_Mutation_p.T13A|MAPK10_ENST00000395169.3_5'UTR			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	13					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ACATCCAATGTTGGTTCACTG	0.343000													66	82					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722444	64722444	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:64722444G>A	ENST00000338957.4	+	5	1933	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q	ZC3H12B_ENST00000423889.3_Silent_p.Q611Q	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	611							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGCATCCCAGAACCGACTTC	0.488000													7	13					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85707250	85707250	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:85707250G>A	ENST00000322366.6	-	24	4351	c.3944C>T	c.(3943-3945)tCa>tTa	p.S1315L	WDFY3_ENST00000295888.4_Missense_Mutation_p.S1315L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1315						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGTACTAATGACACAGGGGA	0.403000													27	28					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21422447	21422447	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:21422447C>G	ENST00000313654.9	+	28	3666	c.3425C>G	c.(3424-3426)cCc>cGc	p.P1142R	LAMA3_ENST00000399516.3_Missense_Mutation_p.P1142R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1142	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGACGTTTCCCGCGCAGGTG	0.587000													34	33					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505314	195505314	+	Missense_Mutation	SNP	G	G	A	rs142178516		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:195505314G>A	ENST00000463781.3	-	3	13262	c.12803C>T	c.(12802-12804)cCg>cTg	p.P4268L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Missense_Mutation_p.P32L|MUC4_ENST00000475231.1_Missense_Mutation_p.P4268L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1025					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTTCAGTGACGGTGTTGTCAT	0.517000													17	39					0	0	1	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586539	106586539	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:106586539C>T	ENST00000390602.2	-	0	126																											CTCCATGAATCACCTTCTAAT	0.438000													104	132					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	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				71	50					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8565237	8565237	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:8565237G>A	ENST00000262648.3	-	4	528	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	127	WAP.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TTCACCAACAGGATGTATTTG	0.473000													14	35					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41694399	41694399	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:41694399G>A	ENST00000313860.7	+	26	3278	c.3224G>A	c.(3223-3225)aGa>aAa	p.R1075K	RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R1049K|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R1459K|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R882K|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R894K|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R1061K|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R1048K|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R908K|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R889K|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R902K|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R889K|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R972K	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1075	LIM zinc-binding.				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						ATGCGATCCAGAAGTAAGTAC	0.443000													27	33					0	0	1	0	0
ACP2	53	broad.mit.edu	37	11	47267111	47267111	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:47267111G>A	ENST00000256997.3	-	5	579	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	ACP2_ENST00000533929.1_Missense_Mutation_p.P127S|ACP2_ENST00000530453.1_Intron|ACP2_ENST00000529444.1_Intron|ACP2_ENST00000527256.1_Missense_Mutation_p.P123S|ACP2_ENST00000537863.1_Intron	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	155						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GGGCCCAACGGGAACTTCAGC	0.607000													23	43					0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121575880	121575880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:121575880C>T	ENST00000273668.2	+	4	432	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	EAF2_ENST00000451944.2_Nonsense_Mutation_p.Q121*	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	121					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAGTAAAATTCAGTATCGTAA	0.343000													29	44					0	0	1	0	0
CEPT1	10390	broad.mit.edu	37	1	111690389	111690389	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:111690389C>T	ENST00000545121.1	+	2	261	c.53C>T	c.(52-54)tCc>tTc	p.S18F	CEPT1_ENST00000357172.4_Missense_Mutation_p.S18F	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	18						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CACCCGGAGTCCCCAGTGGGC	0.398000													40	33					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305625	136305625	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:136305625C>T	ENST00000371929.3	+	16	2391	c.1947C>T	c.(1945-1947)ctC>ctT	p.L649L	ADAMTS13_ENST00000356589.2_Silent_p.L618L|ADAMTS13_ENST00000536611.1_Silent_p.L321L|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.L649L|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	649	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGGACCCCTCCAGGAAGATG	0.637000													6	19					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87628917	87628917	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:87628917G>A	ENST00000327946.7	-	6	886	c.801C>T	c.(799-801)atC>atT	p.I267I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	267						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCAGATCCAGGATCTCCGGGT	0.507000										Multiple Myeloma(13;0.14)			36	13					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38738934	38738934	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:38738934C>T	ENST00000449082.2	-	27	5776	c.5777G>A	c.(5776-5778)aGa>aAa	p.R1926K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1926					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACTAAGGCCTCTAGTGACACT	0.453000													75	90					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110885621	110885621	+	Silent	SNP	A	A	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:110885621A>G	ENST00000265171.5	+	10	1948	c.1503A>G	c.(1501-1503)acA>acG	p.T501T	EGF_ENST00000503392.1_Silent_p.T501T|EGF_ENST00000509793.1_Silent_p.T459T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	501					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTGATGGAACAGACTATGGAA	0.388000													84	89					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53641589	53641589	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:53641589C>T	ENST00000342160.3	-	22	2624	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	HUWE1_ENST00000218328.8_Missense_Mutation_p.E723K|HUWE1_ENST00000262854.6_Missense_Mutation_p.E723K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	723					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGGCTTCTTCTGCGGCATGA	0.488000													51	68					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52824988	52824988	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:52824988C>T	ENST00000595962.1	+	5	551	c.485C>T	c.(484-486)tCc>tTc	p.S162F	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.S85F|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.S119F	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AACCACAGTTCCTCTGTTTCC	0.363000													30	47					0	0	1	0	0
RPS6	6194	broad.mit.edu	37	9	19379560	19379560	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:19379560T>A	ENST00000380394.4	-	2	121	c.63A>T	c.(61-63)gaA>gaT	p.E21D	RPS6_ENST00000380384.1_5'UTR|RPS6_ENST00000315377.4_5'UTR|RPS6_ENST00000380381.3_Missense_Mutation_p.E21D	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	21					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GAAGTTTGCGTTCATCGTCCA	0.448000													38	58					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348894	348894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:348894G>A	ENST00000604971.1	+	4	1365	c.252G>A	c.(250-252)tgG>tgA	p.W84*	DUSP22_ENST00000605315.1_Nonsense_Mutation_p.W84*|DUSP22_ENST00000603453.1_Nonsense_Mutation_p.W84*|DUSP22_ENST00000419235.2_Nonsense_Mutation_p.W187*|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Intron			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CCAGGCGGTGGAGCAGTTTTC	0.557000													7	63					0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	74001451	74001451	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:74001451C>T	ENST00000425876.2	+	7	953	c.865C>T	c.(865-867)Cct>Tct	p.P289S	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.P289S			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	289					cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CTTCTCATCCCCTGAGCCCTC	0.587000													36	31					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34135361	34135361	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:34135361C>T	ENST00000257829.3	+	5	677	c.471C>T	c.(469-471)ctC>ctT	p.L157L	NAT10_ENST00000531159.2_Silent_p.L85L|NAT10_ENST00000527971.1_Silent_p.L157L	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	157						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGAACTCACTCAAGCAATTGT	0.418000													29	72					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939883	6939883	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:6939883C>T	ENST00000251761.8	+	0	967				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CTTCCCTGTCCCAGACTTCCT	0.602000													7	24					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46754406	46754406	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:46754406C>T	ENST00000460241.1	-	10	2576	c.906G>A	c.(904-906)agG>agA	p.R302R	PRSS50_ENST00000315170.7_Silent_p.R302R			Q9UI38	TSP50_HUMAN	protease, serine, 50	302	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGAACTTCTCCCTGTGGGTGT	0.557000													78	86					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415998	213415998	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:213415998C>T	ENST00000366960.3	+	12	3058	c.2908C>T	c.(2908-2910)Cca>Tca	p.P970S	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P958S|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P758S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	970	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTACTGTGCCCCAGGTTAGAG	0.398000													3	18					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032157	26032157	+	Silent	SNP	C	C	T	rs150069419	by1000genomes	TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:26032157C>T	ENST00000244661.2	-	1	131	c.132G>A	c.(130-132)ccG>ccA	p.P44P		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	44					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CCACAGTGCCCGGGCGGTAAC	0.652000													96	200					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10447097	10447097	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:10447097G>A	ENST00000245503.5	-	8	1056	c.672C>T	c.(670-672)atC>atT	p.I224I	MYH2_ENST00000532183.1_Silent_p.I224I|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.I224I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	224	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						GGTTGGCACTGATGATTTGAT	0.522000													44	62					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37996539	37996539	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:37996539C>T	ENST00000343823.6	+	16	2146	c.1837C>T	c.(1837-1839)Cac>Tac	p.H613Y	ASH2L_ENST00000428278.2_Missense_Mutation_p.H519Y|ASH2L_ENST00000521652.1_Missense_Mutation_p.H486Y|ASH2L_ENST00000545394.1_Missense_Mutation_p.H474Y|ASH2L_ENST00000250635.7_Missense_Mutation_p.H486Y	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	613					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CGTCTTGTATCACGTGGAGAC	0.562000													4	18					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720928	140720928	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:140720928T>C	ENST00000394576.2	+	1	2390	c.2390T>C	c.(2389-2391)cTa>cCa	p.L797P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCAATCTCTACTCGAAGAA	0.428000													45	10					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830819	830819	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:830819G>A	ENST00000293892.3	-	3	181	c.182C>T	c.(181-183)cCg>cTg	p.P61L	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGTGTGCACGGGTAGGTGAA	0.602000													75	121					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397418	179397418	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:179397418G>A	ENST00000589042.1	-	358	104148	c.103924C>T	c.(103924-103926)Cct>Tct	p.P34642S	TTN_ENST00000342175.6_Missense_Mutation_p.P25769S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P25702S|TTN_ENST00000591111.1_Missense_Mutation_p.P33001S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P25577S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32074S|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33001							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAATCAGGAGAAGGTGTA	0.448000													15	32					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46856186	46856186	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:46856186C>T	ENST00000283296.7	-	4	502	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	GPR116_ENST00000456426.2_Missense_Mutation_p.E72K|GPR116_ENST00000265417.7_Missense_Mutation_p.E72K|GPR116_ENST00000362015.4_Missense_Mutation_p.E72K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	72					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GATGCATTTTCAAAACTGATC	0.408000													30	53					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28966547	28966547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:28966547G>A	ENST00000377179.3	-	6	891	c.379C>T	c.(379-381)Cca>Tca	p.P127S	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CTGTCCTGTGGATCCTGCACA	0.458000													29	97					0	0	1	0	0
LOC101926911	101926911	broad.mit.edu	37	15	91578400	91578400	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:91578400C>T	ENST00000557804.1	+	0	718																											CACGTCCCTCCCTCTGCAAAG	0.572000													7	20					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:189587118C>T	ENST00000264731.3	+	9	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C|TP63_ENST00000392460.3_Missense_Mutation_p.R379C|TP63_ENST00000437221.1_Missense_Mutation_p.R285C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	379	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R379C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)			26	36					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	552638	552638	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:552638C>T	ENST00000270115.7	+	13	1751	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	417										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGGAGGGTCCCTGAAGAGC	0.692000													14	15					0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50926108	50926108	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:50926108C>T	ENST00000395732.3	+	3	136	c.114C>T	c.(112-114)gaC>gaT	p.D38D	MIOX_ENST00000395733.3_Silent_p.D38D|MIOX_ENST00000216075.6_Silent_p.D38D			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	38					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTCCTGGACCGTGTCTTCA	0.672000													37	53					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476293	32476293	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:32476293C>T	ENST00000404025.2	-	5	1128	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	NLRC4_ENST00000360906.5_Missense_Mutation_p.E214K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E214K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	214	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAGAGGGTTTCAAAAAGTCCA	0.527000													37	32					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805773	44805773	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:44805773C>T	ENST00000309315.4	+	17	2376	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	ZMIZ2_ENST00000265346.7_Silent_p.F725F|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Silent_p.F751F|ZMIZ2_ENST00000433667.1_Silent_p.F719F|ZMIZ2_ENST00000413916.1_Silent_p.F693F	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	751	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTTCCAGCTTCCTGGGGCCTG	0.667000													41	81					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930529	46930529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:46930529G>A	ENST00000264318.3	-	9	2360	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	460					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATCCAGTTCGGATAGAAGTA	0.458000													43	46					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216019169	216019169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:216019169C>T	ENST00000366943.2	-	45	9438	c.9052G>A	c.(9052-9054)Ggg>Agg	p.G3018R	USH2A_ENST00000307340.3_Missense_Mutation_p.G3018R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3018					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACTCACCCCCATCGCAAGTG	0.443000										HNSCC(13;0.011)			16	29					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553202	106553202	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:106553202C>T	ENST00000369096.4	+	5	1401	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y	PRDM1_ENST00000369089.3_Silent_p.Y255Y|PRDM1_ENST00000369091.2_Silent_p.Y353Y	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	389					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGGGCTCCTACCCTGGCTACG	0.617000			"""D, N, Mis, F, S"""		DLBCL								39	18					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42807320	42807320	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:42807320C>T	ENST00000315005.3	+	4	411	c.273C>T	c.(271-273)agC>agT	p.S91S	DBF4B_ENST00000393547.2_Silent_p.S91S|DBF4B_ENST00000398338.3_Silent_p.S91S|DBF4B_ENST00000526915.1_3'UTR	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	91	BRCT.				cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TCGTGTCCAGCCGCAGAGAAG	0.488000													32	43					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125115526	125115526	+	Silent	SNP	T	T	C			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:125115526T>C	ENST00000522917.1	+	39	5471	c.5265T>C	c.(5263-5265)ccT>ccC	p.P1755P	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.P1755P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1755						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCTGGTGGCCTTTTTCTAAAA	0.468000													4	119					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53326676	53326676	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:53326676G>A	ENST00000607628.1	-	7	915	c.806C>T	c.(805-807)cCt>cTt	p.P269L	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.P269L|DCP1A_ENST00000606822.1_Missense_Mutation_p.P231L	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	269					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TTCTGATTGAGGGGCTCCTCC	0.537000													10	29					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898779	36898779	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:36898779C>T	ENST00000429976.2	-	12	2549	c.2302G>A	c.(2302-2304)Gat>Aat	p.D768N	TRANK1_ENST00000428977.2_Missense_Mutation_p.D218N|TRANK1_ENST00000301807.6_Missense_Mutation_p.D218N			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	768					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCTGATCATCATTGCCCTCC	0.562000													131	205					0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008241	32008241	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:32008241C>T	ENST00000418967.2	+	8	1156	c.998C>T	c.(997-999)tCc>tTc	p.S333F	CYP21A2_ENST00000435122.2_Missense_Mutation_p.S303F	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	332					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GCCTCCAGCTCCCGGGTCCCC	0.667000													15	74					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810489	106810489	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:106810489G>A	ENST00000526355.1	-	4	1371	c.903C>T	c.(901-903)atC>atT	p.I301I	GUCY1A2_ENST00000282249.2_Silent_p.I301I|GUCY1A2_ENST00000347596.2_Silent_p.I301I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	301					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GGTTCTTCATGATATTAGTAT	0.423000													26	30					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556773	35556773	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:35556773G>A	ENST00000262626.2	+	12	1877	c.1050_splice	c.e12-1	p.G351_splice	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Splice_Site_p.G193_splice|HPN_ENST00000392226.1_Splice_Site_p.G351_splice	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	351	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCCTCCCAGGGCGACAGCGGT	0.652000													58	75					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6754886	6754886	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:6754886C>T	ENST00000230859.6	+	13	1586	c.1457C>T	c.(1456-1458)tCc>tTc	p.S486F		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	486					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAAACTGTCCATGAAGGGC	0.612000													21	24					0	0	1	0	0
LOC101929762	101929762	broad.mit.edu	37	4	120116928	120116928	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:120116928C>T	ENST00000326780.3	-	2	239	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	RP11-455G16.1_ENST00000515843.1_Intron																							TTCTATatttcgtttgaaaac	0.393000													5	8					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24359078	24359078	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:24359078C>T	ENST00000175238.6	+	20	2280	c.2197C>T	c.(2197-2199)Cat>Tat	p.H733Y	ADAM7_ENST00000520720.1_Missense_Mutation_p.H505Y|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.H733Y|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	733					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GCCAGAAATTCATTTCCTAAA	0.388000													31	14					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477051	35477051	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:35477051C>T	ENST00000229771.6	-	8	836	c.757G>A	c.(757-759)Gag>Aag	p.E253K	TULP1_ENST00000322263.4_Missense_Mutation_p.E200K	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	253	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGCCTCCTCCTCCTCTTCT	0.562000													204	386					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254277	39254277	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:39254277G>A	ENST00000333822.4	-	1	116	c.60C>T	c.(58-60)tgC>tgT	p.C20C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	20	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGGTCTCCTGGCAGAGGTCTT	0.597000													29	37					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139706944	139706944	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:139706944G>A	ENST00000263552.6	+	14	1729	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	TBXAS1_ENST00000448866.1_Silent_p.V396V|TBXAS1_ENST00000416849.2_Silent_p.V443V|TBXAS1_ENST00000458722.1_Silent_p.V442V|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Silent_p.V396V|TBXAS1_ENST00000436047.2_Silent_p.V397V|TBXAS1_ENST00000414508.2_Silent_p.V397V|TBXAS1_ENST00000411653.1_Silent_p.V396V|TBXAS1_ENST00000425687.1_Silent_p.V329V	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	396					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TGGACATGGTGATTGCAGAGA	0.612000													68	130					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79277889	79277889	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:79277889G>A	ENST00000373294.5	+	1	149	c.121G>A	c.(121-123)Gga>Aga	p.G41R	TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.G41R|TBX22_ENST00000476373.1_3'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	41					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAAAAGGGCGGAGAGGAAGA	0.592000													10	14					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975383	20975383	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:20975383C>T	ENST00000261383.3	-	53	9822	c.9823G>A	c.(9823-9825)Gag>Aag	p.E3275K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3275	AAA 5 (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)		TTCTGTTTCTCTGAGATCTCT	0.478000													68	86					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131859746	131859746	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:131859746A>T	ENST00000286355.5	-	11	4518	c.2426T>A	c.(2425-2427)tTt>tAt	p.F809Y	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	809					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGACTTGTCAAAATCACACCA	0.393000										HNSCC(32;0.087)			7	10					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28923534	28923534	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:28923534G>A	ENST00000257192.4	+	12	2021	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	603					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAGGACCACAGCCTGAACCCA	0.493000													26	44					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585477	70585477	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:70585477G>A	ENST00000260126.3	-	10	2880	c.2174C>T	c.(2173-2175)tCt>tTt	p.S725F	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S670F|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	725						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTCCCAGCAAGAACCCTGCAC	0.473000													44	149					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599156	62599156	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:62599156C>T	ENST00000512091.1	+	7	1826	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	LPHN3_ENST00000545650.1_Missense_Mutation_p.S360L|LPHN3_ENST00000514591.1_Missense_Mutation_p.S360L|LPHN3_ENST00000514996.1_Missense_Mutation_p.S360L|LPHN3_ENST00000506720.1_Missense_Mutation_p.S428L|LPHN3_ENST00000514157.1_Missense_Mutation_p.S360L|LPHN3_ENST00000507164.1_Missense_Mutation_p.S428L|LPHN3_ENST00000507625.1_Missense_Mutation_p.S428L|LPHN3_ENST00000506700.1_Missense_Mutation_p.S360L|LPHN3_ENST00000511324.1_Missense_Mutation_p.S428L|LPHN3_ENST00000508946.1_Missense_Mutation_p.S360L|LPHN3_ENST00000504896.1_Missense_Mutation_p.S360L|LPHN3_ENST00000508693.1_Missense_Mutation_p.S428L|LPHN3_ENST00000506746.1_Missense_Mutation_p.S428L|LPHN3_ENST00000509896.1_Missense_Mutation_p.S428L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	360	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTCCTAATTCATACCAGTAC	0.393000													26	17					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104175852	104175852	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:104175852C>T	ENST00000020673.5	-	3	1205	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	PSD_ENST00000406432.1_Missense_Mutation_p.E227K	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	227					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAGGAGACTTCCCGGGGGGAG	0.562000													13	4					0	0	1	0	0
RGP1	9827	broad.mit.edu	37	9	35752024	35752024	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:35752024C>T	ENST00000378078.4	+	8	975	c.834C>T	c.(832-834)gtC>gtT	p.V278V	RGP1_ENST00000456972.2_Silent_p.V318V	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	278										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGGGGTGTCCCCTCTGTGT	0.587000													11	28					0	0	1	0	0
IGLV4-69	28784	broad.mit.edu	37	22	22385758	22385758	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:22385758C>T	ENST00000390282.2	+	0	307				PRAMEF24P_ENST00000337471.4_RNA																							GGACGGGATCCCTGATCGCTT	0.592000													61	69					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962583	34962583	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:34962583G>A	ENST00000329357.5	+	1	1671	c.1635G>A	c.(1633-1635)agG>agA	p.R545R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	545										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCGTGGGAGGATAAGGTATG	0.498000													79	108					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7722922	7722922	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:7722922C>T	ENST00000454689.1	-	0	659				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GAAAGGTCTTCCCACTGATGG	0.552000													10	12					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235596	127235596	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:127235596C>T	ENST00000265825.5	+	2	599	c.380C>T	c.(379-381)tCc>tTc	p.S127F	FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	127						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TTTTGCACTTCCCACGTCCTC	0.572000													65	57					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42361069	42361069	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:42361069G>A	ENST00000290472.3	-	20	2395	c.2301C>T	c.(2299-2301)acC>acT	p.T767T		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	767	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TGTTGGACAGGGTGTAGGGGC	0.652000													16	22					0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51379771	51379771	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:51379771G>A	ENST00000325321.3	+	3	475	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Missense_Mutation_p.E84K|KLK2_ENST00000597509.1_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	84	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GTTTGAGCCTGAAGACACAGG	0.552000			T	ETV4	prostate								22	31					0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552341	152552341	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:152552341C>T	ENST00000368787.3	-	2	128	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	24					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GTACTGGGCTCTTTGGGGGAC	0.617000													60	141					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53810932	53810932	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:53810932C>T	ENST00000288139.3	+	38	4714	c.4596C>T	c.(4594-4596)atC>atT	p.I1532I	CACNA1D_ENST00000350061.5_Silent_p.I1512I|CACNA1D_ENST00000540742.1_Silent_p.I404I|CACNA1D_ENST00000422281.2_Silent_p.I1497I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1512					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTCGACGCATCCAGCCTCCCC	0.517000													29	35					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065386	23065386	+	Missense_Mutation	SNP	C	C	T	rs142122866		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:23065386C>T	ENST00000246006.4	-	1	1591	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	482					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCTCCTCATCGGGGGGCCCA	0.657000													45	75					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892227	16892227	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:16892227G>A	ENST00000430580.2	-	27	3852	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	989	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAACTGGAAGGAGTTGAATAA	0.473000													76	2211					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171490	207171490	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:207171490C>T	ENST00000374423.3	+	5	2624	c.2238C>T	c.(2236-2238)tcC>tcT	p.S746S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	746							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATGATTGCTCCAGCTCTGAGT	0.423000													40	109					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36872712	36872712	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:36872712C>T	ENST00000325718.7	+	10	1220	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	377					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGCCCCCGCCCCTTCAGCCCC	0.617000			T	MLL	AL								18	27					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27927140	27927140	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:27927140C>T	ENST00000413272.2	-	4	320	c.178G>A	c.(178-180)Gtt>Att	p.V60I	NUGGC_ENST00000341513.6_Missense_Mutation_p.V60I	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		TTGCTCAAAACCCTTCTGGTC	0.443000													27	25					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368704	22368704	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:22368704C>T	ENST00000332663.2	+	1	227	c.129C>T	c.(127-129)atC>atT	p.I43I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAGGAAATATCCTTATCATTT	0.408000													121	567					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36126551	36126551	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:36126551C>T	ENST00000303965.4	-	22	4168	c.3679G>A	c.(3679-3681)Gca>Aca	p.A1227T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1227	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.A1227S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CGTATAAATGCTCCATATTTT	0.363000													23	48					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50085299	50085299	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:50085299C>T	ENST00000376042.1	+	9	3913	c.3615C>T	c.(3613-3615)ctC>ctT	p.L1205L	CCNB3_ENST00000276014.7_Silent_p.L1205L|CCNB3_ENST00000348603.2_Silent_p.L101L|CCNB3_ENST00000376038.1_Silent_p.L101L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1205					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTACAACTCCTTGGTGCCA	0.463000													51	42					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198685878	198685878	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:198685878G>A	ENST00000367376.2	+	13	1524	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PTPRC_ENST00000348564.6_Silent_p.T292T|PTPRC_ENST00000442510.2_Silent_p.T453T|PTPRC_ENST00000594404.1_Silent_p.T290T|PTPRC_ENST00000352140.3_Silent_p.T403T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTTATACGAAATATGTTT	0.308000													20	31					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174454	106174454	+	RNA	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:106174454G>A	ENST00000390547.2	-	0	334																											tggagttgagggagatggggt	0.627000													4	8					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334195	37334195	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:37334195A>G	ENST00000262825.5	+	14	2580	c.2363A>G	c.(2362-2364)aAc>aGc	p.N788S	CSF2RB_ENST00000536485.1_Missense_Mutation_p.N729S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.N788S|CSF2RB_ENST00000403662.3_Missense_Mutation_p.N782S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	782					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCACCAAGGAACAATCCTGTC	0.647000													36	83					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46867322	46867322	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:46867322G>A	ENST00000393382.3	-	10	1512	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	TTLL6_ENST00000433608.2_Silent_p.F150F	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	409						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACTGCTGCAGGAACTGCCCCC	0.527000													23	23					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175624067	175624067	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:175624067G>A	ENST00000348749.5	-	3	303	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	CHRNA1_ENST00000409323.1_Silent_p.L76L|CHRNA1_ENST00000261007.5_Silent_p.L76L|CHRNA1_ENST00000409219.1_Silent_p.L76L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.L76L	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	76					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						ACCTGTTTCAGACGCACATTG	0.433000													38	36					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211250	59211250	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:59211250C>T	ENST00000302030.2	+	1	634	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGGTGAATTTCCTCGTGGTGG	0.527000													99	115					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73009966	73009966	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:73009966C>T	ENST00000313375.3	-	15	2358		c.e15+1		MLXIPL_ENST00000395189.1_Splice_Site|MLXIPL_ENST00000434326.1_Splice_Site|MLXIPL_ENST00000354613.1_Splice_Site|MLXIPL_ENST00000429400.2_Splice_Site|MLXIPL_ENST00000414749.2_Splice_Site	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like						anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGGAGGATACCACCCAGAAC	0.622000													87	48					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725165	26725165	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:26725165C>T	ENST00000396005.3	-	6	1043	c.734G>A	c.(733-735)gGa>gAa	p.G245E	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G245E	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	245					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGTAAAAGTTCCTCCCACTGT	0.418000													70	83					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13817768	13817768	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr5:13817768G>A	ENST00000265104.4	-	42	6981	c.6877C>T	c.(6877-6879)Ccc>Tcc	p.P2293S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2293	AAA 2 (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)					ATCGCTTTGGGATTCATCCTC	0.418000									Kartagener syndrome				29	43					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802331	33802331	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:33802331G>A	ENST00000260908.7	-	4	1495	c.1378C>T	c.(1378-1380)Ctc>Ttc	p.L460F	SLFN12L_ENST00000449046.1_Missense_Mutation_p.L491F|SLFN12L_ENST00000361112.4_Missense_Mutation_p.L489F	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	492						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GCATCACAGAGGACTTTGTGG	0.453000													31	34					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78440669	78440669	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:78440669G>A	ENST00000278550.7	-	22	3620	c.3158C>T	c.(3157-3159)tCt>tTt	p.S1053F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCCAGAGATAGAGATTTCCTC	0.587000													54	56					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835540	102835540	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:102835540G>A	ENST00000264257.2	+	7	978	c.852G>A	c.(850-852)gtG>gtA	p.V284V	IL1RL2_ENST00000539491.1_Silent_p.V284V|IL1RL2_ENST00000441515.2_Silent_p.V166V|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	284	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GAGAAGGGGTGGAGTAGGTGT	0.403000													47	44					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668215	71668215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:71668215C>T	ENST00000268485.3	+	3	759	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	MARVELD3_ENST00000567501.1_Missense_Mutation_p.S52L|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	239	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TTACTACTATCAGTTCGGAGG	0.557000													76	122					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12860056	12860056	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:12860056C>T	ENST00000379672.5	+	15	1635	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	ARHGAP44_ENST00000340825.3_Silent_p.F445F|ARHGAP44_ENST00000262444.9_Silent_p.F445F	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	445	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACTGGTTCTTCCCTGGGGGTA	0.522000													15	21					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93955066	93955066	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:93955066G>A	ENST00000369303.4	-	16	3016	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	944	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGCTGCCGTGAAATTATCTT	0.358000													25	33					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542662	126542662	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:126542662C>T	ENST00000339582.2	-	6	1898	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	GRM8_ENST00000444921.2_Missense_Mutation_p.E364K|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E364K|GRM8_ENST00000405249.1_Missense_Mutation_p.E364K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	364					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAATTCTCCTCCCAGAATTCT	0.378000										HNSCC(24;0.065)			25	67					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578900	169578900	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:169578900G>A	ENST00000263686.6	-	8	1212	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	SELP_ENST00000367786.2_Missense_Mutation_p.P330L|SELP_ENST00000367788.2_Missense_Mutation_p.P330L|SELP_ENST00000367793.2_Missense_Mutation_p.P330L|SELP_ENST00000458599.2_Missense_Mutation_p.P330L|SELP_ENST00000367794.2_Missense_Mutation_p.P330L|SELP_ENST00000367792.2_Missense_Mutation_p.P330L|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	392	Sushi 4.				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)	TCCGTGGACAGGACTCTCCAG	0.493000													27	43					0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12666376	12666376	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:12666376G>A	ENST00000297029.5	+	8	1250	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	SCIN_ENST00000445618.2_Silent_p.Q136Q|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Silent_p.Q136Q	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	383	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GTTCTCCGCAGATGGCAGCCC	0.418000													10	10					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6541303	6541303	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:6541303C>T	ENST00000254579.6	+	9	2320	c.1756C>T	c.(1756-1758)Cta>Tta	p.L586L	DNHD1_ENST00000354685.3_Silent_p.L586L|DNHD1_ENST00000527990.2_Silent_p.L586L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	586					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AACTGGAGGCCTACAGTCTGT	0.478000													46	46					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213515	9213515	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:9213515G>A	ENST00000305456.2	-	1	467	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GGGGGTTCATGATGACTGTGT	0.493000													19	6					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416256	105416256	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:105416256G>A	ENST00000333244.5	-	7	5651	c.5532C>T	c.(5530-5532)gcC>gcT	p.A1844A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1844						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCCACCGAGGCCTCGATGG	0.602000													256	372					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179995	65179995	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:65179995C>T	ENST00000310045.7	-	2	3354	c.1881G>A	c.(1879-1881)atG>atA	p.M627I	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	617						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATACCTATTCATAAACTTAT	0.353000													32	32					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24687524	24687524	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:24687524G>A	ENST00000374409.1	-	8	999	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	STPG1_ENST00000440416.1_Missense_Mutation_p.P202S|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000337248.4_Missense_Mutation_p.P249S|STPG1_ENST00000003583.8_Missense_Mutation_p.P202S|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		TTCAGGATGGGGTTTTTCCTT	0.532000													30	26					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8377378	8377378	+	Silent	SNP	G	G	A	rs141716045	byFrequency	TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:8377378G>A	ENST00000538603.1	-	4	609	c.51C>T	c.(49-51)gcC>gcT	p.A17A	FAM90A1_ENST00000307435.6_Silent_p.A17A	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	17							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGAGGGTCTGGGCTCTCACCA	0.592000													7	28					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99047654	99047654	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr13:99047654G>A	ENST00000376586.2	+	13	1674	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A	FARP1_ENST00000595437.1_Silent_p.A446A|FARP1_ENST00000319562.6_Silent_p.A446A			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	446					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCGCCTCGGCGCCCACGGAGG	0.687000													13	58					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542894	133542894	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:133542894C>T	ENST00000409261.1	-	14	1863	c.1490G>A	c.(1489-1491)aGg>aAg	p.R497K	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R497K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	497							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCATGTGGCCTGCAGCTCTG	0.483000													46	41					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382565	22382565	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:22382565C>T	ENST00000328795.4	+	1	184	c.93C>T	c.(91-93)atC>atT	p.I31I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I31I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTGTGCTGATCTTAATTTTCT	0.413000													83	436					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060773	9060773	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr19:9060773C>T	ENST00000397910.4	-	3	26876	c.26673G>A	c.(26671-26673)atG>atA	p.M8891I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8893	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTTCATCATGACAGGGG	0.483000													59	24					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152484039	152484039	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:152484039C>T	ENST00000427231.2	-	69	10343	c.10141G>A	c.(10141-10143)Gat>Aat	p.D3381N	NEB_ENST00000172853.10_Missense_Mutation_p.D3138N|NEB_ENST00000603639.1_Missense_Mutation_p.D3381N|NEB_ENST00000397345.3_Missense_Mutation_p.D3381N|NEB_ENST00000409198.1_Missense_Mutation_p.D3138N|NEB_ENST00000604864.1_Missense_Mutation_p.D3381N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3381					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACTCACATCGCTCTGGAGG	0.473000													40	113					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698960	79698960	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:79698960G>A	ENST00000538312.1	+	5	1256	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	FAM46D_ENST00000308293.5_Missense_Mutation_p.E308K	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	308										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGTTGTGAATGAAAGCACTGT	0.388000													48	66					0	0	1	0	0
TMEM223	79064	broad.mit.edu	37	11	62559436	62559436	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:62559436C>G	ENST00000307366.7	-	1	57	c.31G>C	c.(31-33)Ggg>Cgg	p.G11R	TMEM223_ENST00000525631.1_Missense_Mutation_p.G11R	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	11						integral to membrane											GCTAGCAGCCCCGTGGGCCAT	0.726000													10	7					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74186187	74186187	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:74186187G>A	ENST00000286523.5	-	12	3737	c.2955C>T	c.(2953-2955)atC>atT	p.I985I	ELMSAN1_ENST00000394071.2_Silent_p.I985I	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GGCTCCGGAGGATGAGGATGT	0.567000													12	25					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202594	56202594	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr18:56202594G>A	ENST00000361673.3	-	5	5038	c.4825C>T	c.(4825-4827)Cct>Tct	p.P1609S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1609							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAAGTACAAGGGAACCTGGTA	0.433000													37	44					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45047410	45047410	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:45047410C>T	ENST00000559390.1	+	3	1247	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.P107S|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	107	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TAAGAAGTTACCCTTACTCAA	0.433000													48	53					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858400	42858400	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:42858400C>T	ENST00000455697.1	-	7	1721	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.G479E|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.G479E|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.G479E|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.G479E	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	479					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ATCGCCCAGTCCATCTTGTGA	0.458000													24	29					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90312801	90312801	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:90312801C>T	ENST00000369408.5	+	4	622	c.273C>T	c.(271-273)atC>atT	p.I91I	ANKRD6_ENST00000520793.1_Silent_p.I91I|ANKRD6_ENST00000485637.1_Silent_p.I91I|ANKRD6_ENST00000522441.1_Silent_p.I91I|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000339746.4_Silent_p.I91I|ANKRD6_ENST00000447838.2_Silent_p.I91I	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	91							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CGGAGATCATCGCGGCGCTCA	0.612000													3	11					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7627883	7627883	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:7627883G>A	ENST00000256861.6	-	8	1167	c.1089C>T	c.(1087-1089)caC>caT	p.H363H	ITIH5_ENST00000397145.2_Silent_p.H363H|ITIH5_ENST00000446830.2_Silent_p.H145H|ITIH5_ENST00000397146.2_Silent_p.H363H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.H149H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	363	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTGACATATGGTGAATGTACA	0.383000													27	41					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816325	6816325	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:6816325G>A	ENST00000332601.3	-	1	803	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCCAGGATGAAATCTGTAA	0.493000													65	100					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119301215	119301215	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:119301215C>T	ENST00000478399.1	+	2	1604	c.199C>T	c.(199-201)Ctt>Ttt	p.L67F	ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000357003.3_Missense_Mutation_p.L67F|ADPRH_ENST00000478927.1_Missense_Mutation_p.L67F|ADPRH_ENST00000465513.1_Missense_Mutation_p.L67F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	67					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGCAGAAGCTCTTGTGGAAGC	0.557000													35	50					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198725214	198725214	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:198725214G>A	ENST00000367376.2	+	33	3990	c.3819G>A	c.(3817-3819)aaG>aaA	p.K1273K	PTPRC_ENST00000348564.6_Silent_p.K1114K|PTPRC_ENST00000442510.2_Silent_p.K1275K|PTPRC_ENST00000594404.1_Silent_p.K1112K|PTPRC_ENST00000352140.3_Silent_p.K1225K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1273					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTGAAGCAAAGGAACAGGCTG	0.433000													38	64					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37454865	37454865	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:37454865T>G	ENST00000234170.5	-	2	1616	c.1471A>C	c.(1471-1473)Aat>Cat	p.N491H		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	491					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATGCCCTATTCACACCTGTT	0.358000													32	29					0	0	1	0	0
GAGE12J	729396	broad.mit.edu	37	X	49179741	49179741	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:49179741G>A	ENST00000442437.2	+	2	165	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_001098406.1	NP_001091876.1			G antigen 12J											kidney(2)|large_intestine(2)|lung(1)|prostate(1)	6	Ovarian(276;0.236)					CTCCTGAAATGATTGGGCCTA	0.413000													11	399					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932697	32932697	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:32932697C>T	ENST00000383763.4	+	4	2064	c.2001C>T	c.(1999-2001)atC>atT	p.I667I		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	667					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACGCAGGATCGTGGTGGCTG	0.607000													29	33					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49753020	49753020	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:49753020C>T	ENST00000327697.6	+	32	3167	c.3023C>T	c.(3022-3024)tCc>tTc	p.S1008F	RNF123_ENST00000433785.1_Missense_Mutation_p.S120F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1008						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCTGCCCTTCCACCCTGCTG	0.622000													14	32					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38537883	38537883	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr21:38537883C>T	ENST00000399017.2	+	33	6114	c.3367C>T	c.(3367-3369)Ccc>Tcc	p.P1123S	TTC3_ENST00000355666.1_Missense_Mutation_p.P1123S|TTC3_ENST00000354749.2_Missense_Mutation_p.P1123S|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1123					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGAACATGGTCCCTTGGACAT	0.338000													88	100					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577523	162577523	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:162577523C>T	ENST00000306100.5	-	7	1287	c.851G>A	c.(850-852)aGg>aAg	p.R284K	FSTL5_ENST00000536695.1_Missense_Mutation_p.R283K|FSTL5_ENST00000427802.2_Missense_Mutation_p.R283K|FSTL5_ENST00000379164.4_Missense_Mutation_p.R283K|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	284	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATATTGTTCCTTTTCCAGAT	0.353000													12	19					0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67171735	67171735	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:67171735C>T	ENST00000312390.5	+	2	91	c.62C>T	c.(61-63)tCc>tTc	p.S21F	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.S21F|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.S21F	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	21						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACTCCAGCTCCTTGGGGTCC	0.672000													24	27					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130831825	130831825	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:130831825A>G	ENST00000357462.5	-	15	3313	c.3220T>C	c.(3220-3222)Tgc>Cgc	p.C1074R	POTEF_ENST00000409914.2_Missense_Mutation_p.C1074R			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	1074	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ACCTACAAGCATTTGCGGTGG	0.493000													31	161					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666582	34666582	+	Missense_Mutation	SNP	G	G	A	rs142411412		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:34666582G>A	ENST00000488417.1	+	3	1339	c.1219G>A	c.(1219-1221)Ggg>Agg	p.G407R	C1orf94_ENST00000373374.3_Missense_Mutation_p.G217R	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	217							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAACCCAAGCGGGCAGCCGAG	0.582000													15	16					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936223	4936223	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:4936223G>A	ENST00000322013.3	-	1	699	c.671C>T	c.(670-672)gCt>gTt	p.A224V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A224V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGATCAGAGCATAAGAGAA	0.522000													17	39					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188340	57188340	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:57188340C>T	ENST00000331162.4	-	5	1052	c.782G>A	c.(781-783)aGa>aAa	p.R261K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAGTTCTCTTATGTCT	0.423000													53	21					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26627455	26627455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:26627455G>A	ENST00000314675.7	-	4	240	c.161C>T	c.(160-162)tCc>tTc	p.S54F	UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374217.2_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.S54F|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000357089.4_Intron|UBXN11_ENST00000374222.1_Missense_Mutation_p.S54F	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	54						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GCCATAGCAGGAAGGGACTGA	0.617000													56	86					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631466	32631466	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:32631466G>A	ENST00000242310.4	-	1	4201	c.4112C>T	c.(4111-4113)cCa>cTa	p.P1371L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1371					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTCTTCTTTGGAGGAAGCTG	0.463000													98	122					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153524320	153524320	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:153524320C>T	ENST00000369915.3	+	1	297	c.108C>T	c.(106-108)atC>atT	p.I36I	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	36					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCATTCCATCAGGGCCACAT	0.622000													108	211					0	0	1	0	0
NEURL3	93082	broad.mit.edu	37	2	97166148	97166148	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:97166148C>T	ENST00000310865.3	-	0	752									neuralized E3 ubiquitin protein ligase 3																		TCCCCACCTCCCCTGCGGGGT	0.647000													4	11					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47849166	47849166	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:47849166G>A	ENST00000289672.2	-	51	7641	c.7591C>T	c.(7591-7593)Ctg>Ttg	p.L2531L	C7orf69_ENST00000418326.2_Intron|PKD1L1_ENST00000462350.1_5'UTR|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2531					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGAGTGCCAGGAAGACCAGC	0.488000													18	12					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106172097	106172097	+	Silent	SNP	A	A	G			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:106172097A>G	ENST00000541806.1	+	2	1158	c.639A>G	c.(637-639)caA>caG	p.Q213Q	CLDN2_ENST00000336803.1_Silent_p.Q213Q|CLDN2_ENST00000540876.1_Silent_p.Q213Q	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	213					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGCCTGGTCAACCTCCCAAAG	0.537000													69	87					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220100392	220100392	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:220100392C>T	ENST00000366926.3	-	2	857	c.696G>A	c.(694-696)aaG>aaA	p.K232K	SLC30A10_ENST00000536446.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	232					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GAGCTTCAGACTTTTTCTCTT	0.373000													22	35					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56638929	56638929	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:56638929G>A	ENST00000389934.3	-	30	4346	c.4229C>T	c.(4228-4230)cCa>cTa	p.P1410L	TEX14_ENST00000240361.8_Missense_Mutation_p.P1416L|TEX14_ENST00000349033.5_Missense_Mutation_p.P1370L|TEX14_ENST00000584699.1_5'UTR	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1416						cytoplasm	ATP binding|protein kinase activity	p.P1370L(1)|p.P1416L(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCTCAGGTGGCTGCAGCCA	0.498000													72	94					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14960269	14960269	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:14960269C>T	ENST00000285046.5	+	13	3608	c.3498C>T	c.(3496-3498)cgC>cgT	p.R1166R	FGD5_ENST00000543601.1_Silent_p.R925R|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1166	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGTCAGCCGCCCTGTGATGG	0.597000													25	42					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109023367	109023367	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr3:109023367G>A	ENST00000478945.1	-	7	1055	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	270						nucleus	nucleic acid binding	p.S270F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATGCCTGGGGATGGGAAAAT	0.478000													27	53					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69516874	69516874	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:69516874G>A	ENST00000374403.3	+	4	344	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Missense_Mutation_p.G88R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	88	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTGGCCTATGGGCAGACTGG	0.413000													41	38					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810339	123810339	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr11:123810339C>T	ENST00000307033.2	+	1	90	c.16C>T	c.(16-18)Cat>Tat	p.H6Y		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCAGCAAATCATTCCCAGGT	0.408000													48	71					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246260	100246260	+	Silent	SNP	C	C	T	rs74890254	byFrequency	TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:100246260C>T	ENST00000160382.5	-	7	694	c.588G>A	c.(586-588)ggG>ggA	p.G196G		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	196					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGATGAAGTCCCCTGCCAGAG	0.612000													21	49					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135741363	135741363	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:135741363C>T	ENST00000375845.3	-	8	3135	c.3105G>A	c.(3103-3105)agG>agA	p.R1035R	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.R1052R|MAP3K19_ENST00000375844.3_Silent_p.R217R|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Silent_p.R217R|MAP3K19_ENST00000358371.4_Silent_p.R922R	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATTTCTCCTCCCTGTCATATA	0.398000													37	24					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723755	48723755	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:48723755G>A	ENST00000335017.1	+	1	993	c.681G>A	c.(679-681)ccG>ccA	p.P227P		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	227					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ACACCACGCCGAGGTCAGGGA	0.657000													17	25					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999718	218999718	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:218999718G>A	ENST00000318507.2	+	3	621	c.194G>A	c.(193-195)gGa>gAa	p.G65E		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	65					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						AGCCTGCTGGGAAACTCCCTC	0.517000													76	78					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39776353	39776353	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr8:39776353C>T	ENST00000518237.1	+	4	962	c.323C>T	c.(322-324)gCt>gTt	p.A108V	IDO1_ENST00000522495.1_Missense_Mutation_p.A108V|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	108					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AGAAATATTGCTGTTCCTTAC	0.343000													24	31					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42189838	42189838	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr22:42189838C>T	ENST00000401548.3	+	27	3391	c.3351C>T	c.(3349-3351)gaC>gaT	p.D1117D	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Silent_p.D125D|MEI1_ENST00000400107.1_Silent_p.D450D	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1117							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCAGAAGGACCCTCTATTGT	0.458000													7	23					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18234782	18234782	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chrX:18234782C>T	ENST00000380033.4	-	2	229	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	BEND2_ENST00000380030.3_Missense_Mutation_p.E33K	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	33										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCTGCTGTTTCAGAAACTTCC	0.373000													14	24					0	0	1	0	0
SCRT2	85508	broad.mit.edu	37	20	644914	644914	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr20:644914C>T	ENST00000246104.6	-	2	902	c.325G>A	c.(325-327)Gac>Aac	p.D109N	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						AAGAAGGCGTCCATGGAGTAG	0.781000													14	8					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52879396	52879396	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:52879396G>A	ENST00000261844.7	-	11	2981	c.2829C>T	c.(2827-2829)tcC>tcT	p.S943S	FAM214A_ENST00000546305.2_Silent_p.S950S|RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	943																	TTTTACCAAGGGACTCTAAAG	0.323000													28	63					0	0	1	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337072	22337072	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:22337072C>T	ENST00000390436.2	+	0	53																											TATTTATATTCCTGTGGCTGC	0.403000													27	24					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121772	50121772	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:50121772C>T	ENST00000374160.3	-	1	505	c.429G>A	c.(427-429)ctG>ctA	p.L143L	LRRC18_ENST00000298124.3_Silent_p.L143L|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	143						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGAGCTCCTTCAGGGCCCCCA	0.577000													11	6					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199629	86199629	+	Silent	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:86199629G>A	ENST00000361228.3	-	2	527	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	53	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAAAGCCTGGATGACATCAG	0.483000													27	70					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348819	122348819	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr10:122348819C>T	ENST00000398248.1	+	3	522	c.170C>T	c.(169-171)cCt>cTt	p.P57L	PPAPDC1A_ENST00000439221.1_Silent_p.S144S|PPAPDC1A_ENST00000398250.1_Silent_p.S207S|PPAPDC1A_ENST00000369073.3_Silent_p.S197S			Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	0					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCTAGATTCCTTTGTGGGTG	0.443000													68	14					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022151	161022151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:161022151C>T	ENST00000368013.3	-	9	1263	c.943G>A	c.(943-945)Gat>Aat	p.D315N	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D138N|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D315N	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	315					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTGGATTTATCCTCTGTAAGA	0.587000													128	105					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297448	28297448	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:28297448C>T	ENST00000414429.1	-	6	916	c.13G>A	c.(13-15)Gag>Aag	p.E5K	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E5K|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E5K|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E5K|ZSCAN31_ENST00000446474.1_Intron					zinc finger and SCAN domain containing 31									p.E5K(1)									TACTGTTCCTCTGTTGAAGCC	0.423000													35	96					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640787	99640787	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:99640787C>T	ENST00000345514.2	-	3	2439	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	BCL11B_ENST00000443726.2_Missense_Mutation_p.D602N|BCL11B_ENST00000357195.3_Missense_Mutation_p.D796N	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	796						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCGCACGTGTCGCTGCGGCGG	0.731000			T	TLX3	T-ALL								8	13					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3103988	3103988	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:3103988C>T	ENST00000359864.2	+	3	246	c.56C>T	c.(55-57)cCt>cTt	p.P19L	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.P19L	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	19					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCCACCTCCCCTGAGGGGAGC	0.642000													46	93					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74275305	74275305	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:74275305C>T	ENST00000409262.3	+	1	1856	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	619							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCGTTCCCCCAAGCAAATC	0.597000													6	9					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489461	20489461	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr15:20489461C>T	ENST00000555186.1	+	0	449					NR_038836.1																						AACACAACTTCATTCCTAAAG	0.428000													9	116					0	0	1	0	0
FNBP1L	54874	broad.mit.edu	37	1	93998573	93998573	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:93998573C>T	ENST00000260506.8	+	8	885	c.734C>T	c.(733-735)tCa>tTa	p.S245L	FNBP1L_ENST00000370253.2_Missense_Mutation_p.S245L|FNBP1L_ENST00000271234.7_Missense_Mutation_p.S245L|FNBP1L_ENST00000370256.4_Missense_Mutation_p.S245L|FNBP1L_ENST00000604705.1_Missense_Mutation_p.S245L	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	245	Induction of membrane tubulation (By similarity).|Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		CCCATCATTTCAAAATGTTTG	0.353000													40	41					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75799970	75799970	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr6:75799970C>T	ENST00000322507.8	-	63	9106	c.8797G>A	c.(8797-8799)Gat>Aat	p.D2933N	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1769N|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2857N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2929N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2933	Nonhelical region (NC2).				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						GACTGGTAATCATTTGGAATC	0.547000													157	208					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1824800	1824800	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr4:1824800G>A	ENST00000302787.2	-	9	1687	c.1391C>T	c.(1390-1392)gCc>gTc	p.A464V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	464					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTCCAGCTTGGCCTTGTTGTC	0.632000													63	79					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976738	46976738	+	Silent	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:46976738C>T	ENST00000371956.4	+	3	495	c.480C>T	c.(478-480)acC>acT	p.T160T	DMBX1_ENST00000360032.3_Silent_p.T155T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	160					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTCCAGATACCCAGCTGGACA	0.642000													44	94					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71576522	71576522	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr14:71576522G>A	ENST00000304743.2	+	36	7342	c.6896G>A	c.(6895-6897)cGa>cAa	p.R2299Q	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.R2227Q|PCNX_ENST00000439984.3_Missense_Mutation_p.R2188Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2299						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTGATTCACCGATGGGTGCCT	0.428000													33	45					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216262558	216262558	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr2:216262558G>A	ENST00000354785.4	-	22	3731	c.3362C>T	c.(3361-3363)cCa>cTa	p.P1121L	FN1_ENST00000421182.1_Missense_Mutation_p.P1121L|FN1_ENST00000346544.3_Missense_Mutation_p.P1121L|FN1_ENST00000356005.4_Missense_Mutation_p.P1121L|FN1_ENST00000443816.1_Missense_Mutation_p.P1121L|FN1_ENST00000432072.2_Missense_Mutation_p.P1121L|FN1_ENST00000359671.1_Missense_Mutation_p.P1121L|FN1_ENST00000357867.4_Missense_Mutation_p.P1121L|FN1_ENST00000357009.2_Missense_Mutation_p.P1121L|FN1_ENST00000345488.5_Missense_Mutation_p.P1121L|FN1_ENST00000336916.4_Missense_Mutation_p.P1121L|FN1_ENST00000446046.1_Missense_Mutation_p.P1121L|FN1_ENST00000323926.6_Missense_Mutation_p.P1121L			P02751	FINC_HUMAN	fibronectin 1	1121	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCCTGGCTTGGTCGTACACC	0.473000													19	43					0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108456997	108456997	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr9:108456997C>T	ENST00000374692.3	+	1	173	c.56C>T	c.(55-57)cCc>cTc	p.P19L		NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	19						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TCCATGTTTCCCTTTTTTGAC	0.622000													45	42					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121882266	121882266	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr12:121882266C>T	ENST00000377069.4	-	15	2490	c.2084G>A	c.(2083-2085)gGc>gAc	p.G695D	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.G94D|KDM2B_ENST00000377071.4_Missense_Mutation_p.G726D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	726					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCGGTCTTGCCGGCGTGGTT	0.627000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	80					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187477	37187477	+	RNA	SNP	C	C	T			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr17:37187477C>T	ENST00000425901.2	+	0	1319					NR_033753.2																						AACACCAGGTCAGGATCAAGC	0.498000													16	22					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186008983	186008993	+	Frame_Shift_Del	DEL	CTGTTTCTAGT	CTGTTTCTAGT	-			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr1:186008983_186008993delCTGTTTCTAGT	ENST00000271588.4	+	39	6381_6391	c.6152_6162delCTGTTTCTAGT	c.(6151-6162)cfs	p.PVSS2051fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.PVSS2051fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2051	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATGGGAGTCCTGTTTCTAGTTTTTCTAATG	0.422													27	42	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													7	68	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49039149	49039179	+	Frame_Shift_Del	DEL	TTGATCAAAGAAGAGGAGTATGATTCTATTA	TTGATCAAAGAAGAGGAGTATGATTCTATTA	-	rs3092905		TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr13:49039149_49039179delTTGATCAAAGAAGAGGAGTATGATTCTATTA	ENST00000267163.4	+	22	2365_2395	c.2227_2257delTTGATCAAAGAAGAGGAGTATGATTCTATTA	c.(2227-2259)tafs	p.LIKEEEYDSII743fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	743	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.E748*(3)|p.E748fs*6(1)|p.L743fs*1(1)|p.E747*(1)|p.K745I(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATAGTATTCTA	0.281	E748*(NCIH69_LUNG)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	8	---	---	---	---					
LOC101060604	101060604	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-EB-A5FP-01A-11D-A27K-08	TCGA-EB-A5FP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f83f6ee1-ab8b-40d9-9625-3d12eca95ddb	e1343ffc-eb4a-4c15-bf2b-de951787f0d8	g.chr16:21469994delA	ENST00000520823.2	-	0	749																											ACTGTACATTAAAAAAAAAAA	0.294													2	4	---	---	---	---					
