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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LOC100507218	100507218	broad.mit.edu	37	17	74141503	74141503	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:74141503G>A	uc002jqy.2	+	4		c.410_splice	c.e4-1		RNF157_uc002jqz.3_Intron|RNF157_uc002jra.3_Intron					Homo sapiens uncharacterized LOC100507218 (LOC100507218), non-coding RNA.																		TCTCCAGCAGGGCAGCCCAGG	0.582000														4			14		0	0	0.00244969	0	0
GDF3	9573	broad.mit.edu	37	12	7848199	7848199	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7848199C>T	uc001qte.3	-	0	162	c.126G>A	c.(124-126)caG>caA	p.Q42Q		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	42					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTGGAACTTCTGGGGTGAAG	0.483000														25			13		0	0	0.00185496	0	0
LHFP	10186	broad.mit.edu	37	13	39918104	39918104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:39918104G>A	uc001uxf.3	-	3	1083	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	191						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557000			T	HMGA2	lipoma									63			25		0	0	0.000720815	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:137814319G>A	uc002tva.1	+	1	376	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E16K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTGCAAATGAAATATGCGA	0.522000														76			57		0	0	0.00361006	0	0
TYK2	7297	broad.mit.edu	37	19	10461603	10461603	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:10461603G>A	uc002moc.4	-	24	3849	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S	TYK2_uc010dxe.3_Silent_p.S972S	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1157	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTGGGCGAAAGGACGCCTCTG	0.552000														30			40		0	0	0.00222228	0	0
MKL2	57496	broad.mit.edu	37	16	14334138	14334138	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:14334138G>A	uc010uza.2	+	9	1031	c.876G>A	c.(874-876)aaG>aaA	p.K292K	MKL2_uc002dcg.3_Silent_p.K292K|MKL2_uc002dch.3_Silent_p.K281K|MKL2_uc010uzb.2_Silent_p.K241K	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	281					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTAGCAAAAAGTGCAAAGATC	0.383000														20			50		0	0	0.00361006	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58350598	58350598	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:58350598C>T	uc001sqp.3	+	5	706	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA.	222					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						TTGGAAGGATCCCACATAACA	0.353000														66			39		0	0	0.00111076	0	0
DCDC5	100506627	broad.mit.edu	37	11	31115625	31115625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:31115625G>A	uc009yjk.1	-	3	503	c.434C>T	c.(433-435)cCt>cTt	p.P145L	DCDC5_uc009yjl.1_Missense_Mutation_p.P73L|DCDC5_uc001msu.2_Missense_Mutation_p.P316L	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						ACTGGCTACAGGCCACAGGAT	0.532000														51			64		0	0	0.00361006	0	0
GDPD4	220032	broad.mit.edu	37	11	76944136	76944136	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:76944136C>T	uc001oyf.3	-	12	1574	c.1323G>A	c.(1321-1323)agG>agA	p.R441R		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	441	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTGAGTTAATCCTGGAGCACC	0.468000														18			27		0	0	0.001512	0	0
COL3A1	1281	broad.mit.edu	37	2	189873725	189873725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:189873725G>A	uc002uqj.1	+	47	3718	c.3601G>A	c.(3601-3603)Gga>Aga	p.G1201R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1201	Nonhelical region (C-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTGGTGTTGGAGCCGCTGC	0.542000														41			42		0	0	0.00195071	0	0
OR4P4	81300	broad.mit.edu	37	11	55406571	55406571	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:55406571C>T	uc010rij.2	+	0	738	c.738C>T	c.(736-738)gtC>gtT	p.V246V		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTTGTGGTCCTGTTTTTTG	0.388000														75			47		0	0	0.00361006	0	0
TRAF7	84231	broad.mit.edu	37	16	2225900	2225900	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:2225900C>T	uc002cow.3	+	17	1791	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	564					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GCGTCTACTCCATTGCTGTGA	0.572000														16			30		0	0	0.00178596	0	0
ZNF799	90576	broad.mit.edu	37	19	12502327	12502327	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:12502327G>A	uc010dyt.3	-	3	1089	c.885C>T	c.(883-885)tcC>tcT	p.S295S	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GTCTTCGAAGGGAAGTGGAAG	0.433000														82			44		0	0	0.0025221	0	0
UNKL	64718	broad.mit.edu	37	16	1453339	1453339	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:1453339G>A	uc010brn.2	-	2	307	c.294C>T	c.(292-294)ccC>ccT	p.P98P	UNKL_uc002clq.3_Silent_p.P98P	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN	Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.	98						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGTGCAGGTAGGGACACCTGG	0.617000														16			9		0	0	0.000673444	0	0
OR4L1	122742	broad.mit.edu	37	14	20528335	20528335	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:20528335C>T	uc001vwn.1	+	0	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAAACATTCTCATTATGGTCA	0.398000														94			117		0	0	0.00361006	0	0
NTF3	4908	broad.mit.edu	37	12	5604142	5604142	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:5604142C>T	uc001qnl.4	+	0	845	c.762C>T	c.(760-762)atC>atT	p.I254I	NTF3_uc001qnk.4_Silent_p.I267I	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	254					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGAGAAAAATCGGAAGAACAT	0.368000														19			6		0	0	0.00116845	0	0
FAM135B	51059	broad.mit.edu	37	8	139323149	139323149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139323149C>T	uc003yuy.3	-	2	263	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	31								p.R31L(6)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAGGTCACTCGGATCTGGTA	0.493000										HNSCC(54;0.14)				60			31		0	0	0.00178596	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916154	9916154	+	Missense_Mutation	SNP	C	T	T	rs143031592		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:9916154C>T	uc010uym.2	-	10	2445	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	GRIN2A_uc002czo.4_Missense_Mutation_p.G712E|GRIN2A_uc010uyn.2_Missense_Mutation_p.G555E|GRIN2A_uc002czr.4_Missense_Mutation_p.G712E	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	712					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.G712E(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCTCTACTCCTTTCTGATT	0.458000														63			16		0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	9086177	9086177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9086177C>T	uc002mkp.3	-	0	5842	c.5638G>A	c.(5638-5640)Gat>Aat	p.D1880N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1880	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						GAAGAGGTATCAGAGCCGTTT	0.507000														11			22		0	0	0.00278032	0	0
SLC4A5	57835	broad.mit.edu	37	2	74492337	74492337	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:74492337G>A	uc002sko.1	-	3	458	c.456C>T	c.(454-456)ccC>ccT	p.P152P	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.P152P|SLC4A5_uc010ffc.1_Silent_p.P152P|SLC4A5_uc002skp.1_Silent_p.P88P|SLC4A5_uc002sks.1_Silent_p.P152P	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	152						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGACACGTGGGGCTTGCTCC	0.592000														96			63		0	0	0.00361006	0	0
HERC2P2	400322	broad.mit.edu	37	15	23299951	23299951	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:23299951G>A	uc001yvq.2	-	3		c.1554C>T			HERC2P2_uc001yvo.4_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		GCACCAGTGAGAGACTTCAGG	0.577000														11			13		0	0	0.00316338	0	0
DSP	1832	broad.mit.edu	37	6	7569434	7569434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:7569434G>A	uc003mxp.1	+	11	1714	c.1435G>A	c.(1435-1437)Ggg>Agg	p.G479R	DSP_uc003mxq.1_Missense_Mutation_p.G479R|DSP_uc021yle.1_Missense_Mutation_p.G479R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	479	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGTGCATAAGGGGGATGAGTG	0.468000														116			32		0	0	0.000814825	0	0
GAD2	2572	broad.mit.edu	37	10	26508071	26508071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:26508071C>T	uc001isp.2	+	3	889	c.386C>T	c.(385-387)tCa>tTa	p.S129L	GAD2_uc009xkr.3_Missense_Mutation_p.S129L|GAD2_uc001isq.2_Missense_Mutation_p.S129L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	129					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTCGATAGATCAACCAAAGTG	0.403000														117			38		0	0	0.000953801	0	0
PAPSS1	9061	broad.mit.edu	37	4	108552847	108552847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:108552847G>A	uc003hyk.3	-	10	1760	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L		NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	559					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AACTCGAAAGGGAACTATTTC	0.428000														33			18		0	0	0.000958276	0	0
CPXM2	119587	broad.mit.edu	37	10	125521433	125521433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:125521433C>T	uc001lhk.1	-	10	2057	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	578					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGCCCTCCTCCTTCTGGAAG	0.667000														0			17		0	0	0.000958276	0	0
CXorf27	25763	broad.mit.edu	37	X	37850232	37850232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:37850232C>T	uc004ddt.4	+	0	163	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_012274	NP_036406	O75409	HYPM_HUMAN	Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.	47							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AGCCAGAGTTCCTCCACAATA	0.517000														4			27		0	0	0.00106085	0	0
BSN	8927	broad.mit.edu	37	3	49699171	49699171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:49699171C>T	uc003cxe.4	+	5	10007	c.9893C>T	c.(9892-9894)cCc>cTc	p.P3298L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3298					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCATACGATCCCCGCGGGAAG	0.602000														6			42		0	0	0.00195071	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023467	52023467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52023467G>A	uc002pwy.3	-	7	1439	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	SIGLEC6_uc002pwz.3_Missense_Mutation_p.P395S|SIGLEC6_uc010ydb.2_Missense_Mutation_p.P359S|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_Missense_Mutation_p.P352L|SIGLEC6_uc010eoz.2_Missense_Mutation_p.P341L	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	411					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCCTCAGCAGGGTGGTCTGAA	0.512000														262			63		0	0	0.00361006	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34550	34550	+	RNA	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrGL000241.1:34550T>C	uc011mgv.2	-	2		c.334A>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		cttatcttttttctttttctt	0.294000														48			4		0	0	0.000978159	0	0
GBX2	2637	broad.mit.edu	37	2	237074669	237074669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:237074669G>A	uc002vvw.1	-	1	973	c.935C>T	c.(934-936)tCc>tTc	p.S312F	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.	312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CCCTGTCTTGGAATTGGCATT	0.577000														38			54		0	0	0.00361006	0	0
GZMB	3002	broad.mit.edu	37	14	25102253	25102253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:25102253C>T	uc001wps.2	-	1	137	c.71G>A	c.(70-72)gGa>gAa	p.G24E	GZMB_uc010ama.2_Missense_Mutation_p.G12E|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	24	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.G24E(2)|p.G58E(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGCCTCATGTCCCCCGATGAT	0.567000														88			70		0	0	0.00361006	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	91937	91937	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrGL000209.1:91937G>A	uc002quk.1	+	5	705	c.650_splice	c.e5-1	p.G217_splice	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	217							receptor activity										TGTGTTCTAGGAAACTCTTCA	0.453000														135			20		0	0	0.00188189	0	0
OPN5	221391	broad.mit.edu	37	6	47754355	47754355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:47754355G>A	uc003ozc.3	+	1	263	c.235G>A	c.(235-237)Gat>Aat	p.D79N	OPN5_uc003ozd.3_5'Flank	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	79					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AGCAGTCTGTGATCTGGGGAT	0.418000														33			42		0	0	0.00361006	0	0
RPA3	6119	broad.mit.edu	37	7	7676679	7676679	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:7676679G>A	uc003sri.3	-	7	1490	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_002947	NP_002938	P35244	RFA3_HUMAN	Homo sapiens replication protein A3, 14kDa (RPA3), mRNA.	106					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|cytoplasm|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		GGAAGTCATGGATAATTTTCA	0.294000								Direct reversal of damage;Nucleotide excision repair (NER)						128			90		0	0	0.00361006	0	0
CTDP1	9150	broad.mit.edu	37	18	77477664	77477664	+	Missense_Mutation	SNP	C	T	T	rs138106090		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:77477664C>T	uc002lnh.2	+	8	2345	c.2198C>T	c.(2197-2199)aCc>aTc	p.T733I	CTDP1_uc002lni.2_Missense_Mutation_p.T733I|CTDP1_uc010drd.2_Missense_Mutation_p.T733I|CTDP1_uc021ult.1_Missense_Mutation_p.T614I	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	733					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GACGATCACACCAAGGCACAG	0.642000														49			26		0	0	0.00178596	0	0
GLIS1	148979	broad.mit.edu	37	1	54060392	54060392	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:54060392G>A	uc001cvr.1	-	2	751	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	62					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						CACCGCTTCAGGCTGCCCTCG	0.697000														14			18		0	0	0.00152264	0	0
ADSS	159	broad.mit.edu	37	1	244587324	244587324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:244587324G>A	uc001iaj.3	-	5	829	c.512C>T	c.(511-513)tCg>tTg	p.S171L	ADSS_uc009xgr.2_Non-coding_Transcript	NM_001126	NP_001117	P30520	PURA2_HUMAN	Homo sapiens adenylosuccinate synthase (ADSS), mRNA.	171					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	AGCTTTGGACGAATAAACTGG	0.423000														14			24		0	0	0.000720815	0	0
DHX9	1660	broad.mit.edu	37	1	182852480	182852480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:182852480C>T	uc001gpr.3	+	24	3296	c.3121C>T	c.(3121-3123)Ccc>Tcc	p.P1041S	DHX9_uc001gps.3_Missense_Mutation_p.P827S|DHX9_uc001gpt.3_Missense_Mutation_p.P320S|DHX9_uc009wyd.3_Missense_Mutation_p.P6S	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1041					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTACCCATCTCCCTTCTTTGT	0.343000														19			26		0	0	0.00178596	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202001	140202001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140202001C>T	uc003lhl.2	+	0	641	c.641C>T	c.(640-642)aCt>aTt	p.T214I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.T214I|PCDHAC2_uc003lhj.1_Missense_Mutation_p.T214I	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	230	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T214S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGATTGCAACTGATGGAGGA	0.348000														35			57		0	0	0.00361006	0	0
GRIK1	2897	broad.mit.edu	37	21	30949459	30949459	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:30949459C>A	uc002yno.1	-	13	2419	c.1955G>T	c.(1954-1956)gGa>gTa	p.G652V	GRIK1_uc002ynn.3_Missense_Mutation_p.G637V|GRIK1_uc011acs.2_Missense_Mutation_p.G652V|GRIK1_uc011act.2_Missense_Mutation_p.G513V	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	652					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCATATCCCTCCAACTATTCT	0.458000														72			24		7.92952e-12	2.30993e-11	0.00395357	1	0
NR6A1	2649	broad.mit.edu	37	9	127298251	127298251	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:127298251G>A	uc004bor.1	-	6	1163	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	NR6A1_uc004boq.1_Silent_p.L324L|NR6A1_uc010mwq.1_Silent_p.L325L	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	329					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GAAGACAGCAGGATTAGCTCC	0.512000														7			44		0	0	0.00222228	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190095	5190095	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:5190095G>A	uc003jdl.3	+	6	1197	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	ADAMTS16_uc003jdk.1_Silent_p.V353V|ADAMTS16_uc003jdj.1_Silent_p.V353V	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	353	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V353M(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGGACTGGTGATAAGTCACC	0.473000														60			45		0	0	0.00361006	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761666	13761666	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:13761666G>A	uc001rbt.2	-	8	2060	c.1881C>T	c.(1879-1881)acC>acT	p.T627T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	627					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGATCTTGGAGGTGGTCCCCT	0.522000														26			24		0	0	0.00106085	0	0
SCTR	6344	broad.mit.edu	37	2	120252038	120252038	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:120252038C>T	uc002tma.3	-	1	385	c.159G>A	c.(157-159)caG>caA	p.Q53Q		NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	53					digestion|excretion	integral to plasma membrane	secretin receptor activity	p.Q53*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGTCTCCTGTCTGCTCTCTGG	0.602000														20			15		0	0	0.00244969	0	0
MUC1	4582	broad.mit.edu	37	1	155160214	155160214	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:155160214C>T	uc021pap.1	-	5	1164	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	MUC1_uc001fhz.3_Silent_p.T60T|MUC1_uc001fhy.3_Silent_p.T60T|MUC1_uc010pfb.2_Silent_p.T60T|MUC1_uc010pfh.2_Silent_p.T206T|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Silent_p.T206T|MUC1_uc010pfj.2_Silent_p.T230T|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_Silent_p.T60T|MUC1_uc010pfe.2_Non-coding_Transcript|MUC1_uc009wpi.3_Silent_p.T60T|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Silent_p.T60T|MUC1_uc001fiq.3_Silent_p.T60T|MUC1_uc009wqa.3_Silent_p.T218T|MUC1_uc010pfn.2_Silent_p.T135T|MUC1_uc009wpn.3_Silent_p.T144T|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Silent_p.T144T|MUC1_uc009wqc.3_Silent_p.T132T|MUC1_uc009wqd.3_Silent_p.T156T|MUC1_uc001fia.3_Silent_p.T135T|MUC1_uc009wqb.3_Silent_p.T60T|MUC1_uc009wpx.3_Silent_p.T119T|MUC1_uc010pfq.2_Silent_p.T132T|MUC1_uc001fid.3_Silent_p.T110T|MUC1_uc001fit.3_Silent_p.T60T|MUC1_uc009wpz.3_Silent_p.T162T|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Silent_p.T153T|MUC1_uc009wpo.3_Silent_p.T97T|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Silent_p.T153T|MUC1_uc009wpk.3_Silent_p.T82T|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Silent_p.T355T|MUC1_uc009wqg.3_Silent_p.T91T|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Silent_p.T109T|MUC1_uc009wps.3_Silent_p.T118T|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Silent_p.T121T|MUC1_uc009wpq.3_Silent_p.T123T|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	1135	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGTCTGAGATCGTCAGGTTAT	0.552000			T	IGH@	B-NHL									32			16		0	0	0.000958276	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883558	19883558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:19883558G>A	uc010vav.2	-	1	919	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	GPRC5B_uc021tef.1_Missense_Mutation_p.L196F|GPRC5B_uc002dgt.3_Missense_Mutation_p.L204F	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	204										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						TCGTAGATGAGGGCCATCACA	0.602000														66			24		0	0	0.00106085	0	0
DUOX2	50506	broad.mit.edu	37	15	45393430	45393430	+	Missense_Mutation	SNP	G	A	A	rs144153950		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:45393430G>A	uc001zun.3	-	21	3097	c.2894C>T	c.(2893-2895)tCg>tTg	p.S965L	DUOX2_uc010bea.3_Missense_Mutation_p.S965L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	965	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTGATGAACGAGACTCGACA	0.542000														14			8		0	0	0.00307968	0	0
FPR3	2359	broad.mit.edu	37	19	52327322	52327322	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52327322C>T	uc002pxt.1	+	1	505	c.321C>T	c.(319-321)atC>atT	p.I107I	FPR3_uc021uyq.1_Silent_p.I107I	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	107					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGATAGACATCAACCTGTTTG	0.478000														88			11		0	0	0.00136819	0	0
PSMA1	5682	broad.mit.edu	37	11	14526784	14526784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:14526784G>A	uc001mll.3	-	10	1109	c.764C>T	c.(763-765)cCt>cTt	p.P255L	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Missense_Mutation_p.P249L	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	249					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TTCATCAGCAGGTTGAGCAGG	0.323000														104			41		0	0	0.00361006	0	0
APOB	338	broad.mit.edu	37	2	21233672	21233673	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:21233672_21233673GG>TT	uc002red.3	-	25	6195_6196	c.6067_6068CC>AA	c.(6067-6069)cca>AAa	p.P2023K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2023					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTTTAATTGGGGAGTCTAGT	0.426000														511			13		0	0	6.4e-05	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147620	6147620	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:6147620G>A	uc002mef.1	+	2	458	c.231G>A	c.(229-231)aaG>aaA	p.K77K	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Silent_p.K77K|ACSBG2_uc002meh.1_Silent_p.K77K|ACSBG2_uc002mei.1_Silent_p.K27K|ACSBG2_uc010xiz.1_Silent_p.K77K	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	77					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGGCAAAAAGTGGGAAATTC	0.443000														135			45		0	0	0.00361006	0	0
PLCL1	5334	broad.mit.edu	37	2	198950799	198950799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:198950799G>A	uc010fsp.3	+	1	2956	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E	PLCL1_uc002uuv.4_Missense_Mutation_p.G774E	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	853					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGAAGTGGAGGAGGAAAGGCA	0.463000														22			19		0	0	0.00121646	0	0
LILRP2	79166	broad.mit.edu	37	19	55221331	55221331	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55221331C>T	uc002qgs.1	+	0		c.1731C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		ACTCTTCTTTCCCTCCAGGCG	0.622000														29			5		0	0	0.000602214	0	0
SAP130	79595	broad.mit.edu	37	2	128774043	128774043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:128774043G>A	uc010fmd.2	-	3	637	c.505C>T	c.(505-507)Cca>Tca	p.P169S	SAP130_uc002tpp.2_Missense_Mutation_p.P169S|SAP130_uc002tpq.1_Missense_Mutation_p.P143S	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	169	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACCTGCCCTGGAACCTTGGGG	0.527000														37			35		0	0	0.000953801	0	0
MIIP	60672	broad.mit.edu	37	1	12082369	12082369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:12082369C>T	uc001ato.2	+	2	725	c.332C>T	c.(331-333)cCc>cTc	p.P111L		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	111										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGACCGAGACCCCACTCAGCA	0.682000														4			47		0	0	0.00361006	0	0
IFNB1	3456	broad.mit.edu	37	9	21077570	21077570	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:21077570C>T	uc003zok.3	-	0	374	c.299G>A	c.(298-300)tGg>tAg	p.W100*		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	100					B cell proliferation|activation of caspase activity|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	AGTCTCATTCCAGCCAGTGCT	0.443000														9			71		0	0	0.00361006	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679929	75679929	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:75679929G>A	uc021xar.1	+	0		c.16G>A								Homo sapiens microRNA 1324 (MIR1324), microRNA.																		AGAGGTGCATGAAGCCTGGTC	0.562000														39			9		0	0	0.000978159	0	0
SCAND3	114821	broad.mit.edu	37	6	28543477	28543477	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28543477C>T	uc003nlo.3	-	2	1623	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	335					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						TTGTGATGTTCTTGTATTTCG	0.368000														101			101		0	0	0.00361006	0	0
PHF8	23133	broad.mit.edu	37	X	54022212	54022212	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:54022212G>A	uc004dsu.3	-	11	1591	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	PHF8_uc004dsv.3_Silent_p.L279L|PHF8_uc004dst.3_Silent_p.L413L|PHF8_uc004dsw.3_Silent_p.L413L|PHF8_uc004dsx.3_Silent_p.L177L|PHF8_uc004dsy.3_Silent_p.L413L	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	449					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGGTCTGGCAGAGCCTGTCAA	0.483000														3			13		0	0	0.00185496	0	0
MUC4	4585	broad.mit.edu	37	3	195517616	195517616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:195517616C>T	uc021xjp.1	-	1	991	c.835G>A	c.(835-837)Gag>Aag	p.E279K	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E161K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	284					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.F279F(1)		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)		GATGATGTCTCCCCTGGGTTT	0.468000														39			52		0	0	0.00361006	0	0
ALPK2	115701	broad.mit.edu	37	18	56204337	56204337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:56204337G>A	uc002lhj.4	-	4	3296	c.3082C>T	c.(3082-3084)Cct>Tct	p.P1028S	ALPK2_uc002lhk.1_Missense_Mutation_p.P359S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1028							ATP binding|protein serine/threonine kinase activity	p.P1028T(1)|p.P389T(1)		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						TTGTCCTCAGGAATTGACACA	0.483000														59			41		0	0	0.00222228	0	0
FAM163A	148753	broad.mit.edu	37	1	179783223	179783223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:179783223C>T	uc009wxj.3	+	5	862	c.403C>T	c.(403-405)Cca>Tca	p.P135S	FAM163A_uc001gnj.3_Missense_Mutation_p.P135S|FAM163A_uc009wxk.3_Missense_Mutation_p.P135S	NM_173509	NP_775780	Q96GL9	F163A_HUMAN	Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA.	135						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						GGGGGGACCCCCATCCCTCAA	0.587000														34			44		0	0	0.0025221	0	0
COL7A1	1294	broad.mit.edu	37	3	48614144	48614144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:48614144G>A	uc003ctz.2	-	66	5666	c.5665C>T	c.(5665-5667)Cca>Tca	p.P1889S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1889	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAGGCCTGGAGGCCCCTGG	0.612000														0			16		0	0	0.00074312	0	0
UBIAD1	29914	broad.mit.edu	37	1	11334047	11334047	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:11334047C>T	uc001asg.3	+	0	793	c.459C>T	c.(457-459)tcC>tcT	p.S153S		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	153					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACTACCTGTCCCCTCTGAAAC	0.557000														11			43		0	0	0.00361006	0	0
FBXO27	126433	broad.mit.edu	37	19	39521915	39521915	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:39521915A>C	uc002okh.3	-	2	492	c.410T>G	c.(409-411)gTg>gGg	p.V137G		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	137	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.V137G(4)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTCCTCCACCACCCAGCCGTC	0.577000														48			7		0	0	0.000978159	0	0
VOPP1	81552	broad.mit.edu	37	7	55588791	55588791	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:55588791G>A	uc003tqs.3	-	1	270	c.87C>T	c.(85-87)ttC>ttT	p.F29F	VOPP1_uc003tqq.3_Silent_p.F20F|VOPP1_uc010kzh.3_Silent_p.F26F|VOPP1_uc010kzi.3_Silent_p.F12F|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						AGAGTCCTTCGAAATACCAGC	0.398000														4			4		0	0	0.000602214	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100614	39100614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:39100614G>A	uc002oix.1	-	11	970	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	MAP4K1_uc002oiy.1_Missense_Mutation_p.L288F|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	288					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTTTGTCAAGAAGATCCAGG	0.572000														23			14		0	0	0.000422831	0	0
KIF4B	285643	broad.mit.edu	37	5	154396321	154396321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:154396321G>A	uc010jih.1	+	0	3062	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	968	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGTCAGGATGAAGAACTTGA	0.478000														38			24		0	0	0.00127121	0	0
MYT1L	23040	broad.mit.edu	37	2	1893050	1893050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1893050G>A	uc002qxe.3	-	15	3310	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	MYT1L_uc002qxd.3_Missense_Mutation_p.P826L|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	828					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATCCTCCGGGGTTTCATTTT	0.542000														43			14		0	0	0.00121646	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021159	73021159	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:73021159G>A	uc001otu.3	+	0	1497	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	492					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AACCTGGTGGGAGCTCCGGGG	0.597000														25			27		0	0	0.0024448	0	0
PCDH19	57526	broad.mit.edu	37	X	99551454	99551454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:99551454G>A	uc010nmz.3	-	5	4944	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S	PCDH19_uc004efw.4_Missense_Mutation_p.P1042S|PCDH19_uc004efx.4_Missense_Mutation_p.P1043S	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1090					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCACGGGCTGGGGGAGCCAGG	0.577000														5			28		0	0	0.00106085	0	0
NLRP7	199713	broad.mit.edu	37	19	55451005	55451005	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55451005G>A	uc002qih.4	-	3	1258	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	NLRP7_uc010esk.3_Silent_p.F394F|NLRP7_uc002qig.4_Silent_p.F394F|NLRP7_uc002qii.4_Silent_p.F394F|NLRP7_uc010esl.3_Silent_p.F422F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	394	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAAACGCAGGAACAGCCCCG	0.711000														20			8		0	0	0.000274275	0	0
PDE4B	5142	broad.mit.edu	37	1	66713166	66713166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:66713166C>T	uc001dcn.3	+	3	496	c.305C>T	c.(304-306)tCc>tTc	p.S102F	PDE4B_uc009war.3_Missense_Mutation_p.S10F|PDE4B_uc001dco.3_Missense_Mutation_p.S102F|PDE4B_uc001dcp.3_Missense_Mutation_p.S87F	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	102					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AATGGCCCTTCCCCAGGTCGG	0.532000														89			175		0	0	0.00361006	0	0
IL4R	3566	broad.mit.edu	37	16	27374181	27374181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:27374181C>T	uc002don.3	+	10	1750	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	IL4R_uc002dop.4_Missense_Mutation_p.S488F|IL4R_uc010bxy.3_Missense_Mutation_p.S503F|IL4R_uc002doo.3_Missense_Mutation_p.S343F	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	503	Required for IRS1 activation and IL4- induced cell growth.		S -> P (lowered total IgE concentration; dbSNP:rs1805015).		immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCAGCAACTCCCTGAGCCAG	0.627000														29			50		0	0	0.00361006	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251634	24251634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:24251634G>A	uc003xdz.2	+	3	557	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	ADAMDEC1_uc010lub.2_Missense_Mutation_p.E34K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E34K	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	113					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAGAGGAGAGGAAATTACCAC	0.453000														14			8		0	0	0.00307968	0	0
HEPH	9843	broad.mit.edu	37	X	65486392	65486392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:65486392C>T	uc011moz.2	+	20	3654	c.3517C>T	c.(3517-3519)Ctt>Ttt	p.L1173F	HEPH_uc004dwn.3_Missense_Mutation_p.L1121F|HEPH_uc004dwo.3_Missense_Mutation_p.L852F|HEPH_uc010nkr.3_Missense_Mutation_p.L930F|HEPH_uc011mpa.2_Missense_Mutation_p.L1122F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1119					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TAGTGTCACCCTTCTGCTCGT	0.488000														1			35		0	0	0.000953801	0	0
OR51E2	81285	broad.mit.edu	37	11	4703277	4703277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:4703277C>T	uc001lzk.2	-	1	909	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	OR51E2_uc021qcr.1_Missense_Mutation_p.R222Q	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGAACCGTTCGTATTATCAG	0.488000														26			18		0	0	0.00121646	0	0
CENPJ	55835	broad.mit.edu	37	13	25479569	25479569	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25479569G>A	uc001upt.4	-	6	2860	c.2607C>T	c.(2605-2607)ttC>ttT	p.F869F	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	869					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AAGAAGGAAAGAATTTCATCA	0.423000														27			48		0	0	0.00361006	0	0
CALR3	125972	broad.mit.edu	37	19	16594862	16594862	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:16594862A>G	uc002ned.2	-	4	620	c.557T>C	c.(556-558)aTt>aCt	p.I186T	MED26_uc002nee.2_Intron	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	186	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CTGACCATCAATTTTCACATC	0.413000														16			25		0	0	0.00106085	0	0
OR4A47	403253	broad.mit.edu	37	11	48510455	48510455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48510455G>A	uc010rhx.2	+	0	111	c.111G>A	c.(109-111)atG>atA	p.M37I		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTTTGACCATGGTGGGCAACC	0.418000														8			15		0	0	0.000422831	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456106	84456106	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:84456106C>T	uc010chj.3	+	7	824	c.735C>T	c.(733-735)atC>atT	p.I245I	ATP2C2_uc002fhx.3_Silent_p.I245I|ATP2C2_uc002fhy.3_Silent_p.I262I|ATP2C2_uc002fhz.3_Silent_p.I94I	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	245					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCAGCAACATCGTCTTCATGG	0.602000														24			45		0	0	0.00321405	0	0
SNAP47	116841	broad.mit.edu	37	1	227947188	227947188	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:227947188T>C	uc001hrf.2	+	3	1537	c.1123_splice	c.e3+2	p.A375_splice	SNAP47_uc001hra.2_Splice_Site_p.A133_splice|SNAP47_uc001hrd.3_Splice_Site_p.A375_splice|SNAP47_uc001hre.3_Splice_Site_p.A133_splice	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	375						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGCATGCAGGTTAGTGACCGA	0.527000														51			83		0	0	0.00361006	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590624	140590624	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140590624G>A	uc003liz.3	+	0	2334	c.2145G>A	c.(2143-2145)agG>agA	p.R715R	PCDHB12_uc011dak.2_Silent_p.R378R|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	715					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGTGCAGGAGGAGCAGGG	0.672000														106			36		0	0	0.00195071	0	0
WDR62	284403	broad.mit.edu	37	19	36572341	36572341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36572341C>T	uc002odd.2	+	9	1331	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	WDR62_uc002odc.2_Missense_Mutation_p.P414S	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	414					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTAGGTGTATCCTGAGTTTGA	0.428000														91			57		0	0	0.00361006	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878918	12878918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:12878918G>A	uc010lsq.3	+	4	1222	c.730G>A	c.(730-732)Gga>Aga	p.G244R	KIAA1456_uc011kxw.2_Intron|KIAA1456_uc003wwj.4_Missense_Mutation_p.G157R|KIAA1456_uc010lsr.3_Missense_Mutation_p.G118R	NM_020844	NP_001093147	Q9P272	K1456_HUMAN	Homo sapiens KIAA1456 (KIAA1456), transcript variant 1, mRNA.	244							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						CAGCACATTAGGAAAATCGTT	0.418000														59			17		0	0	0.00074312	0	0
GABRA4	2557	broad.mit.edu	37	4	46930341	46930341	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:46930341G>A	uc003gxg.3	-	8	2549	c.1566C>T	c.(1564-1566)gcC>gcT	p.A522A	GABRA4_uc021xnz.1_Silent_p.A503A|GABRA4_uc021xoa.1_Silent_p.A452A	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	522					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel 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)	AGAGAATACGGGCATATTTGT	0.413000														42			41		0	0	0.00148497	0	0
TCF4	6925	broad.mit.edu	37	18	52927248	52927248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:52927248G>A	uc002lga.3	-	13	1367	c.1307C>T	c.(1306-1308)cCa>cTa	p.P436L	TCF4_uc021ukg.1_Missense_Mutation_p.P174L|TCF4_uc021ukh.1_Missense_Mutation_p.P174L|TCF4_uc002lfw.4_Missense_Mutation_p.P174L|TCF4_uc010xdu.1_Missense_Mutation_p.P204L|TCF4_uc010xdv.1_Missense_Mutation_p.P204L|TCF4_uc021uki.1_Missense_Mutation_p.P263L|TCF4_uc002lfx.2_Missense_Mutation_p.P263L|TCF4_uc010xdw.1_Missense_Mutation_p.P204L|TCF4_uc002lfy.2_Missense_Mutation_p.P292L|TCF4_uc010xdx.1_Missense_Mutation_p.P310L|TCF4_uc021ukj.1_Missense_Mutation_p.P274L|TCF4_uc021ukk.1_Missense_Mutation_p.P274L|TCF4_uc021ukl.1_Missense_Mutation_p.P332L|TCF4_uc002lfz.2_Missense_Mutation_p.P334L|TCF4_uc010dph.1_Missense_Mutation_p.P334L|TCF4_uc010dpi.3_Missense_Mutation_p.P340L|TCF4_uc010xdy.1_Missense_Mutation_p.P310L	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	334					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGTGTGATCTGGAGAATAGAT	0.343000														70			48		0	0	0.00361006	0	0
RYR2	6262	broad.mit.edu	37	1	237972271	237972271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:237972271G>A	uc001hyl.1	+	99	14489	c.14369G>A	c.(14368-14370)cGa>cAa	p.R4790Q	RYR2_uc010pyb.1_Missense_Mutation_p.R223Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4790					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4788Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATTTTTTCCGAAAATTCTAC	0.353000														192			74		0	0	0.00361006	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603467	13603467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:13603467C>T	uc003gmz.1	-	9	5174	c.5057G>A	c.(5056-5058)aGt>aAt	p.S1686N	BOD1L1_uc010idr.1_Missense_Mutation_p.S1023N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1686							DNA binding										TGCTCCATCACTTTCAACTTC	0.418000														130			96		0	0	0.00361006	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816923	69816923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:69816923G>A	uc003hef.2	-	0	587	c.556C>T	c.(556-558)Cca>Tca	p.P186S	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	186						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTGGAGCTGGAAGTTTCCCA	0.448000														11			9		0	0	0.000274275	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3141587	3141587	+	Silent	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3141587G>T	uc002ctv.1	-	3	664	c.576C>A	c.(574-576)acC>acA	p.T192T	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.T110T|ZSCAN10_uc002ctx.1_Silent_p.T120T	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	192					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CATCCTCAAAGGTCAGGCACT	0.527000														29			38		5.48756e-27	1.61035e-26	0.00285205	1	0
PCLO	27445	broad.mit.edu	37	7	82545449	82545449	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82545449C>T	uc003uhx.2	-	6	12142	c.11853G>A	c.(11851-11853)caG>caA	p.Q3951Q	PCLO_uc003uhv.2_Silent_p.Q3951Q|PCLO_uc010lec.3_Silent_p.Q916Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3882					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGAAGGTAACTGATAAGAAG	0.438000														419			91		0	0	0.00361006	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463683	6463683	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:6463683C>T	uc001qnw.3	-	6	1722	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	SCNN1A_uc001qnv.3_Silent_p.K127K|SCNN1A_uc001qnx.3_Silent_p.K427K|SCNN1A_uc010sfb.2_Silent_p.K450K	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	427					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGCCACACTCCTTGATCATGC	0.577000														11			24		0	0	0.00278032	0	0
PDZD2	23037	broad.mit.edu	37	5	31799773	31799773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:31799773G>A	uc003jhl.3	+	1	806	c.418G>A	c.(418-420)Gat>Aat	p.D140N	PDZD2_uc003jhm.3_Missense_Mutation_p.D140N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	140	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCGACTGCGGGATGAGATCCT	0.597000														68			44		0	0	0.00361006	0	0
RGPD5	84220	broad.mit.edu	37	2	113181836	113181836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:113181836C>T	uc002ths.2	-	1	313	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	RGPD5_uc010fkk.2_Missense_Mutation_p.E15K|RGPD5_uc002tht.1_5'Flank|RGPD5_uc010yxm.2_Missense_Mutation_p.E41K	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	41					intracellular transport	cytoplasm	binding			central_nervous_system(1)	1						AGATCATATTCTTTAGCTTCA	0.244000														64			22		0	0	0.00178596	0	0
SORCS2	57537	broad.mit.edu	37	4	7741963	7741963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:7741963G>A	uc003gkb.4	+	26	3452	c.3452G>A	c.(3451-3453)cGa>cAa	p.R1151Q	SORCS2_uc011bwi.2_Missense_Mutation_p.R994Q	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	1151						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCAACTCCCGAGAGATGCAC	0.617000														6			8		0	0	0.000442599	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385329	141385329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141385329G>A	uc003vwk.3	-	2	476	c.476C>T	c.(475-477)cCc>cTc	p.P159L		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	159										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TGTGTAGGAGGGAGAGAGGAT	0.602000														145			23		0	0	0.000878237	0	0
TRIM72	493829	broad.mit.edu	37	16	31234160	31234160	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31234160C>T	uc002ebn.2	+	5	1037	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	251					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TGCAGAAGATCCTGGCAGAGT	0.612000														30			4		0	0	0.000602214	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995914	19995914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:19995914C>T	uc002ktv.1	-	0	1965	c.1861G>A	c.(1861-1863)Gat>Aat	p.D621N		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	621						integral to membrane		p.D621N(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATTGACCCATCCATTTTATCC	0.393000														75			68		0	0	0.00361006	0	0
OR5T3	390154	broad.mit.edu	37	11	56020462	56020462	+	Missense_Mutation	SNP	G	A	A	rs141819352		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56020462G>A	uc010rjd.2	+	0	787	c.787G>A	c.(787-789)Gga>Aga	p.G263R		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G263R(2)|p.K262N(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCTGCTAAGGGAAGGCAAAA	0.413000														95			82		0	0	0.00361006	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217347558	217347558	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:217347558C>A	uc002vgc.4	+	17	3053	c.2723C>A	c.(2722-2724)cCa>cAa	p.P908Q	SMARCAL1_uc002vgd.4_Missense_Mutation_p.P908Q|SMARCAL1_uc010fvg.3_Missense_Mutation_p.P886Q	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	908					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCCTTTGACCCAGGAAGTGCT	0.478000									Schimke Immuno-Osseous Dysplasia					102			6		5.18039e-06	1.5007e-05	0.00307968	1	0
EIF3D	8664	broad.mit.edu	37	22	36912528	36912528	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:36912528G>A	uc003apr.3	-	11	1368	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	EIF3D_uc011amr.2_Silent_p.S228S|EIF3D_uc011amt.2_Silent_p.S352S|EIF3D_uc011ams.2_Silent_p.S304S	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	401						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GGCTCACCCTGGAATCCCACT	0.493000														107			69		0	0	0.00361006	0	0
BRPF3	27154	broad.mit.edu	37	6	36193062	36193062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:36193062C>T	uc003olv.4	+	10	3424	c.3200C>T	c.(3199-3201)cCc>cTc	p.P1067L	BRPF3_uc010jwb.3_Missense_Mutation_p.P797L|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Intron|BRPF3_uc011dtk.2_Missense_Mutation_p.P733L|BRPF3_uc010jwd.3_5'UTR	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1067					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTCCTGCTGCCCTTTGAAGAC	0.652000														25			9		0	0	0.000978159	0	0
ZNF330	27309	broad.mit.edu	37	4	142150761	142150761	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:142150761C>A	uc003iiq.4	+	5	548	c.328C>A	c.(328-330)Cat>Aat	p.H110N	ZNF330_uc011chl.2_Missense_Mutation_p.H50N	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	Homo sapiens zinc finger protein 330 (ZNF330), mRNA.	110						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TTGGGTTTGCCATGGTAGGAA	0.463000														57			52		9.72345e-25	2.85215e-24	0.00361006	1	0
ELN	2006	broad.mit.edu	37	7	73477977	73477977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:73477977G>A	uc003tzw.3	+	28	2054	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	ELN_uc003tzn.3_Missense_Mutation_p.G649R|ELN_uc003tzy.3_Missense_Mutation_p.G625R|ELN_uc003tzz.3_Missense_Mutation_p.G568R|ELN_uc003tzo.3_Missense_Mutation_p.G601R|ELN_uc003tzp.3_Missense_Mutation_p.G560R|ELN_uc003tzq.3_Missense_Mutation_p.G513R|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G630R|ELN_uc003tzt.3_Missense_Mutation_p.G654R|ELN_uc003tzu.3_Missense_Mutation_p.G635R|ELN_uc003tzv.3_Missense_Mutation_p.G620R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G639R|ELN_uc011kff.2_Missense_Mutation_p.G649R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	711	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGGCTCGGAGGACTCGGAGT	0.597000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							130			57		0	0	0.00361006	0	0
ABCC9	10060	broad.mit.edu	37	12	21965081	21965081	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:21965081G>A	uc001rfh.3	-	33	4133	c.4113C>T	c.(4111-4113)gtC>gtT	p.V1371V	ABCC9_uc001rfi.1_Silent_p.V1371V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1371	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCCATCAATGACAATTTTTC	0.323000														41			47		0	0	0.00361006	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256963	24256963	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:24256963C>T	uc003xdz.2	+	9	1207	c.987C>T	c.(985-987)tcC>tcT	p.S329S	ADAMDEC1_uc010lub.2_Silent_p.S250S|ADAMDEC1_uc011lab.1_Silent_p.S250S	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	329	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CCTTGTGTTCCCCATCTTCGG	0.418000														59			20		0	0	0.00229938	0	0
ABCC10	89845	broad.mit.edu	37	6	43401062	43401062	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43401062C>T	uc003ouy.1	+	2	1559	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	ABCC10_uc003ouz.1_Silent_p.N405N|ABCC10_uc010jyo.1_5'Flank	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	448	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCCAGCAACCAGGAAATGC	0.597000														18			8		0	0	0.000274275	0	0
GGT1	2678	broad.mit.edu	37	22	25019187	25019187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:25019187G>A	uc003aan.1	+	9	1334	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	GGT1_uc003aas.1_Missense_Mutation_p.G283R|GGT1_uc003aat.1_Missense_Mutation_p.G283R|GGT1_uc003aau.2_Missense_Mutation_p.G283R|GGT1_uc003aav.2_Missense_Mutation_p.G283R|GGT1_uc003aaw.2_Missense_Mutation_p.G283R|GGT1_uc003aax.2_Missense_Mutation_p.G283R	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	283					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCGCTCAGCGGGCCCGTGCT	0.627000														4			10		0	0	0.00136819	0	0
TSIX	9383	broad.mit.edu	37	X	73046495	73046495	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:73046495C>T	uc004ebn.2	+	0		c.34456C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTTGGGATTTCCCCAGGTCTT	0.443000														6			53		0	0	0.00361006	0	0
F8	2157	broad.mit.edu	37	X	154133156	154133156	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:154133156T>C	uc004fmt.3	-	15	5687	c.5516A>G	c.(5515-5517)cAa>cGa	p.Q1839R	F8_uc010nvi.1_5'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1839	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATATGATGTTGCACTTTCCA	0.413000														5			36		0	0	0.000953801	0	0
WISP1	8840	broad.mit.edu	37	8	134233063	134233063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:134233063C>T	uc003yub.3	+	2	695	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	197					Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAAGACCGCACCCCGTGACAC	0.657000														33			12		0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9076487	9076487	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9076487C>T	uc002mkp.3	-	2	11163	c.10959G>A	c.(10957-10959)aaG>aaA	p.K3653K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3654	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						TGGTCTCTGTCTTTACAGCTG	0.473000														41			17		0	0	0.000422831	0	0
PARP12	64761	broad.mit.edu	37	7	139724499	139724499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:139724499G>A	uc003vvl.1	-	11	2841	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	656	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGAGGGGTCGGACACACTGTT	0.577000														110			14		0	0	0.000422831	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650538	51650538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51650538G>A	uc002pvv.1	+	5	1254	c.1185G>A	c.(1183-1185)atG>atA	p.M395I	SIGLEC7_uc002pvw.1_Missense_Mutation_p.M302I|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	395					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.G394G(1)		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)		ACATAGGCATGAAGGATGCAA	0.572000														27			24		0	0	0.000878237	0	0
AIM2	9447	broad.mit.edu	37	1	159043271	159043271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159043271C>T	uc001ftj.1	-	1	264	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	7	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AAGAGTATCTCCTTGTATTTA	0.373000														41			73		0	0	0.00361006	0	0
KLHDC4	54758	broad.mit.edu	37	16	87788820	87788820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:87788820G>A	uc002fki.3	-	3	451	c.349C>T	c.(349-351)Ccg>Tcg	p.P117S	KLHDC4_uc002fkj.3_Missense_Mutation_p.P117S|KLHDC4_uc002fkl.3_Missense_Mutation_p.P60S|KLHDC4_uc010chu.1_5'UTR	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	117								p.P117L(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CAGCGCCTCGGAGGTGGACTG	0.507000														44			14		0	0	0.000566183	0	0
SPN	6693	broad.mit.edu	37	16	29675345	29675345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:29675345C>T	uc021tgd.1	+	0	296	c.296C>T	c.(295-297)tCc>tTc	p.S99F	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.S99F|SPN_uc002dtn.3_Missense_Mutation_p.S99F	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	99					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAGGAAGTTTCCATCAAGATG	0.522000														25			62		0	0	0.00361006	0	0
ATP8A1	10396	broad.mit.edu	37	4	42467036	42467036	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:42467036G>A	uc003gwr.2	-	25	2614	c.2382C>T	c.(2380-2382)gtC>gtT	p.V794V	ATP8A1_uc003gwq.2_Silent_p.V20V|ATP8A1_uc003gws.2_Silent_p.V779V	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	794					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CAAGCGTTACGACTTTGACTT	0.413000														31			17		0	0	0.00121646	0	0
PKM2	5315	broad.mit.edu	37	15	72511451	72511451	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:72511451C>T	uc002aty.2	-	2	272	c.-12_splice	c.e2-1		PKM2_uc010bit.1_Splice_Site_p.M1_splice|PKM2_uc010uki.2_Splice_Site_p.R70_splice|PKM2_uc002atx.2_Splice_Site|PKM2_uc002atw.2_Splice_Site|PKM2_uc010ukj.2_Splice_Site_p.G12_splice|PKM2_uc010ukk.2_Splice_Site|PKM2_uc002atv.2_Splice_Site_p.G31_splice|PKM2_uc010biu.1_Splice_Site_p.G17_splice	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.						glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	CTGCTGAGGTCCTGGGTCGAG	0.498000														90			6		0	0	0.00116845	0	0
FN1	2335	broad.mit.edu	37	2	216251457	216251457	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:216251457T>A	uc002vfa.3	-	27	4833	c.4567A>T	c.(4567-4569)Aat>Tat	p.N1523Y	FN1_uc002vfc.3_Missense_Mutation_p.N1432Y|FN1_uc002vfe.3_Missense_Mutation_p.N1432Y|FN1_uc002vff.3_Missense_Mutation_p.N1432Y|FN1_uc002vfg.3_Missense_Mutation_p.N1432Y|FN1_uc002vfh.3_Missense_Mutation_p.N1432Y|FN1_uc002vfi.3_Missense_Mutation_p.N1523Y|FN1_uc002vfj.3_Missense_Mutation_p.N1523Y|FN1_uc002vfb.3_Missense_Mutation_p.N1432Y|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Missense_Mutation_p.N150Y	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1522	Cell-attachment.|Fibronectin type-III 10.				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)	TCTCTGCCATTAAGAGCAACG	0.488000														36			16		0	0	0.000566183	0	0
IAH1	285148	broad.mit.edu	37	2	9621462	9621462	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:9621462C>T	uc002qzr.3	+	3	357	c.331C>T	c.(331-333)Cta>Tta	p.L111L	IAH1_uc002qzs.3_5'UTR|IAH1_uc002qzt.3_5'UTR|IAH1_uc010yiz.2_Non-coding_Transcript	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	Homo sapiens isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) (IAH1), mRNA.	111					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CGCTGCGAACCTAAAGAGCAT	0.488000														20			30		0	0	0.00178596	0	0
TJP3	27134	broad.mit.edu	37	19	3733818	3733819	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3733818_3733819GG>AA	uc010xhv.2	+	5	842_843	c.842_843GG>AA	c.(841-843)ggg>gAA	p.G281E	TJP3_uc010xhs.2_Missense_Mutation_p.G262E|TJP3_uc010xht.2_Missense_Mutation_p.G226E|TJP3_uc010xhu.2_Missense_Mutation_p.G271E|TJP3_uc010xhw.2_Missense_Mutation_p.G281E	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	262						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTCAGAAGGGAAGCTAAGCC	0.564000														81			44		0	0	6.4e-05	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036820	33036820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:33036820C>T	uc003ocs.2	-	2	711	c.604G>A	c.(604-606)Gac>Aac	p.D202N	HLA-DPA1_uc021ywg.1_Missense_Mutation_p.D202N|HLA-DPA1_uc021ywh.1_Missense_Mutation_p.D202N|HLA-DPA1_uc010juk.3_Missense_Mutation_p.D202N	NM_033554	NP_291032	P20036	DPA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.	202	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						AGCGGCTGGTCCAAGCCCCAG	0.532000														103			86		0	0	0.00361006	0	0
CRTAC1	55118	broad.mit.edu	37	10	99771025	99771025	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:99771025C>A	uc001kou.2	-	1	450	c.94G>T	c.(94-96)Gaa>Taa	p.E32*	CRTAC1_uc001kov.3_Nonsense_Mutation_p.E32*	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	32						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AACATGGGTTCAGCCCGCTGG	0.512000														41			37		6.70999e-13	1.95636e-12	0.000814825	1	0
CSF1R	1436	broad.mit.edu	37	5	149459714	149459714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:149459714G>A	uc003lrl.3	-	2	688	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	CSF1R_uc011dcd.2_Missense_Mutation_p.H17Y|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.H165Y|CSF1R_uc011dce.1_Missense_Mutation_p.H165Y|CSF1R_uc011dcf.2_Missense_Mutation_p.H165Y	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	165	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGGCCCTGTGGATGGTGAAG	0.607000														32			15		0	0	0.00316338	0	0
OR4K13	390433	broad.mit.edu	37	14	20502436	20502436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:20502436G>A	uc010tkz.2	-	0	482	c.482C>T	c.(481-483)gCt>gTt	p.A161V		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAACATGAAAGCCATTTGACT	0.468000														108			91		0	0	0.00361006	0	0
PLCXD1	55344	broad.mit.edu	37	X	205506	205506	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:205506C>T	uc004cpc.3	+	2	546	c.234C>T	c.(232-234)cgC>cgT	p.R78R	PLCXD1_uc011mgx.2_Non-coding_Transcript	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.	78	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity	p.T77M(1)		endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCATCACGCGCCCTGTCGTGC	0.632000														8			32		0	0	0.00283554	0	0
NLRP7	199713	broad.mit.edu	37	19	55451413	55451413	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55451413C>T	uc002qih.4	-	3	850	c.774G>A	c.(772-774)ctG>ctA	p.L258L	NLRP7_uc010esk.3_Silent_p.L258L|NLRP7_uc002qig.4_Silent_p.L258L|NLRP7_uc002qii.4_Silent_p.L258L|NLRP7_uc010esl.3_Silent_p.L286L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	258	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGGGACTTTCAGCTCATCAA	0.557000														143			25		0	0	0.00395357	0	0
HCCS	3052	broad.mit.edu	37	X	11139886	11139886	+	Missense_Mutation	SNP	G	A	A	rs145499860		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:11139886G>A	uc004cul.2	+	6	943	c.763G>A	c.(763-765)Gta>Ata	p.V255I	HCCS_uc004cuk.3_Missense_Mutation_p.V255I|HCCS_uc004cuj.3_Missense_Mutation_p.V255I	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	255					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						ACTTTCGGCAGTATGGGACAG	0.413000														1			22		0	0	0.00278032	0	0
LRRC18	474354	broad.mit.edu	37	10	50121768	50121768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:50121768C>T	uc001jhd.3	-	0	513	c.433G>A	c.(433-435)Gag>Aag	p.E145K	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.E145K	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	145						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCGTGGAGCTCCTTCAGGGCC	0.582000														22			7		0	0	0.00198382	0	0
GGPS1	9453	broad.mit.edu	37	1	235505825	235505825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:235505825C>T	uc001hwv.3	+	3	725	c.641C>T	c.(640-642)tCa>tTa	p.S214L	GGPS1_uc001hwx.3_Missense_Mutation_p.S160L|GGPS1_uc001hww.3_Missense_Mutation_p.S214L	NM_001037277	NP_001032354	O95749	GGPPS_HUMAN	Homo sapiens geranylgeranyl diphosphate synthase 1 (GGPS1), transcript variant 2, mRNA.	214					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			GGAAAGTTCTCATTTCCTACT	0.368000														51			17		0	0	0.00152264	0	0
OPLAH	26873	broad.mit.edu	37	8	145111949	145111949	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145111949G>A	uc003zar.3	-	11	1690	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	536							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGTAGAGCAGGGAGCAGGGTT	0.672000														13			4		0	0	0.000602214	0	0
OR10C1	442194	broad.mit.edu	37	6	29407875	29407875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29407875C>T	uc011dlp.2	+	0	160	c.83C>T	c.(82-84)tCt>tTt	p.S28F	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCTCTTCTCTGTCTTTCTC	0.537000														64			46		0	0	0.00321405	0	0
PIWIL2	55124	broad.mit.edu	37	8	22147395	22147395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:22147395G>A	uc003xbn.2	+	8	1170	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	PIWIL2_uc011kzf.1_Missense_Mutation_p.R341K|PIWIL2_uc010ltv.2_Missense_Mutation_p.R341K	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	341					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTTGTGGGGAGAAACTTTTAT	0.338000														16			16		0	0	0.000422831	0	0
ZNF711	7552	broad.mit.edu	37	X	84526436	84526436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:84526436C>T	uc004eeq.3	+	9	2912	c.2026C>T	c.(2026-2028)Cgt>Tgt	p.R676C	ZNF711_uc004eep.3_Missense_Mutation_p.R630C|ZNF711_uc004eeo.3_Missense_Mutation_p.R630C|ZNF711_uc011mqy.1_Missense_Mutation_p.R229C	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	630					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.H675Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGGTTTTCATCGTCCTTCTGA	0.403000														0			11		0	0	0.000978159	0	0
IL2RB	3560	broad.mit.edu	37	22	37532325	37532325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37532325C>T	uc003aqv.1	-	6	777	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	216	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTCGTGAACTCGCCTTGCAGA	0.627000														14			15		0	0	0.00244969	0	0
LRP6	4040	broad.mit.edu	37	12	12279653	12279653	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:12279653G>A	uc001rah.4	-	19	4426	c.4284C>T	c.(4282-4284)caC>caT	p.H1428H	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.H1383H	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1428					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAGAACTTGGGTGTGGCACAT	0.463000														113			176		0	0	0.00361006	0	0
ACSS3	79611	broad.mit.edu	37	12	81472131	81472131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:81472131G>A	uc001szl.1	+	0	323	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	ACSS3_uc001szm.1_Missense_Mutation_p.G78S	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	78						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAGGTTCTGGGGCAAAGCTGC	0.627000														27			13		0	0	0.00185496	0	0
FCGBP	8857	broad.mit.edu	37	19	40392521	40392521	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:40392521G>A	uc002omp.4	-	15	7991	c.7983C>T	c.(7981-7983)ttC>ttT	p.F2661F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2661	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAGCCCACAGAACTCCTCCT	0.632000														20			5		0	0	0.00116845	0	0
COL4A2	1284	broad.mit.edu	37	13	111114659	111114659	+	Silent	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:111114659C>A	uc001vqx.3	+	23	1993	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	568	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGTGTGCCCGGGATGAAAG	0.667000														75			5		0.000602214	0.00173785	0.000602214	1	0
RCOR3	55758	broad.mit.edu	37	1	211449676	211449676	+	Silent	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:211449676G>T	uc010psw.2	+	4	627	c.432G>T	c.(430-432)ccG>ccT	p.P144P	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Silent_p.P144P|RCOR3_uc001hif.3_Silent_p.P144P|RCOR3_uc001hig.3_Silent_p.P86P	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CTCCCTTTCCGGATGAGTGGA	0.398000														139			6		0.00307968	0.00884575	0.00307968	1	0
MYH3	4621	broad.mit.edu	37	17	10551946	10551946	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:10551946G>A	uc002gmq.2	-	7	751	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	221	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.Q220E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGGCACTGATGATTTGATCTT	0.463000														6			100		0	0	0.00361006	0	0
ANO4	121601	broad.mit.edu	37	12	101413856	101413856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:101413856G>A	uc010svm.1	+	8	1351	c.779G>A	c.(778-780)aGa>aAa	p.R260K	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R225K|ANO4_uc001thx.2_Missense_Mutation_p.R260K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	260						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AATGCCACAAGAAGTAGAATC	0.308000										HNSCC(74;0.22)				42			49		0	0	0.00361006	0	0
SI	6476	broad.mit.edu	37	3	164716332	164716332	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:164716332G>A	uc003fei.3	-	37	4599	c.4536C>T	c.(4534-4536)atC>atT	p.I1512I		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1512	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTACCAATGATTGATTTGT	0.393000										HNSCC(35;0.089)				45			38		0	0	0.00128727	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921509	12921509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:12921509C>T	uc001aum.1	+	3	1387	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	434								p.R434L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCACTTCGGGCTGAGCT	0.557000														18			86		0	0	0.00361006	0	0
CNTN5	53942	broad.mit.edu	37	11	100141950	100141950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:100141950G>A	uc001pga.3	+	17	2795	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	CNTN5_uc001pfz.3_Missense_Mutation_p.R764Q|CNTN5_uc021qpb.1_Missense_Mutation_p.R764Q|CNTN5_uc021qpc.1_Missense_Mutation_p.R690Q|CNTN5_uc010ruk.2_Missense_Mutation_p.R35Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	764	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R764*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCCCATCTCGAATGATCCGC	0.448000														3			21		0	0	0.00229938	0	0
STK36	27148	broad.mit.edu	37	2	219561263	219561263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:219561263C>T	uc002viu.3	+	21	2804	c.2525C>T	c.(2524-2526)cCa>cTa	p.P842L	STK36_uc002viv.3_Intron|STK36_uc002vix.3_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	842					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CGGTTGACTCCACCAGGTAGT	0.498000														38			49		0	0	0.00361006	0	0
NOD2	64127	broad.mit.edu	37	16	50745127	50745127	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:50745127G>A	uc002egm.1	+	3	1410	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	NOD2_uc021tia.1_Silent_p.R267R|NOD2_uc010cbk.1_Silent_p.R408R|NOD2_uc002egl.1_Silent_p.R213R|NOD2_uc010cbl.1_Silent_p.R213R|NOD2_uc010cbm.1_Silent_p.R213R|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	435	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGTTCCTCAGGAAGTACATCC	0.622000														26			44		0	0	0.00361006	0	0
LOC146880	146880	broad.mit.edu	37	17	62750165	62750165	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:62750165C>T	uc010wqc.2	-	9		c.2193G>A								Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																		CCAGAATAATCTTGGTATCTT	0.388000														35			245		0	0	0.00361006	0	0
C2orf54	79919	broad.mit.edu	37	2	241826526	241826526	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:241826526G>A	uc002wae.4	-	4	1464	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	C2orf54_uc002wac.3_Silent_p.I267I|C2orf54_uc002wad.3_Silent_p.I286I	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	435										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TCTTCTGGAAGATGCTCTGCA	0.592000														22			33		0	0	0.00327116	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308012	140308012	+	Missense_Mutation	SNP	C	T	T	rs137957181		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140308012C>T	uc003lih.2	+	0	1711	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S512F	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	536	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAAACTTCCTTTGACTTT	0.493000														69			25		0	0	0.00332997	0	0
VPS28	51160	broad.mit.edu	37	8	145649612	145649612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145649612G>A	uc003zct.1	-	7	532	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	VPS28_uc003zcs.1_Missense_Mutation_p.R148C	NM_183057	NP_898880	Q9UK41	VPS28_HUMAN	Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA.	148	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCCATGGCGCGGATCTCCAGG	0.677000														62			19		0	0	0.00188189	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524252	26524252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:26524252C>T	uc010oez.2	+	3	535	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	CATSPER4_uc010oey.1_Intron|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	179					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AATCAATATTCCCTCCATCAA	0.522000														19			36		0	0	0.00222228	0	0
PRSS58	136541	broad.mit.edu	37	7	141952364	141952364	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141952364G>A	uc003vxb.3	-	3	824	c.504C>T	c.(502-504)gcC>gcT	p.A168A	PRSS58_uc003vxc.4_Silent_p.A168A	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	168	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.D167H(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGGTTTTATAGGCATCGCGAC	0.428000														145			31		0	0	0.00209593	0	0
SHISA4	149345	broad.mit.edu	37	1	201860657	201860657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:201860657C>T	uc001gxa.3	+	3	826	c.508C>T	c.(508-510)Cca>Tca	p.P170S	SHISA4_uc021phk.1_Non-coding_Transcript	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA.	170	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						TCCCCAATATCCACTCTACCC	0.612000														42			44		0	0	0.00361006	0	0
FAT3	120114	broad.mit.edu	37	11	92532464	92532464	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:92532464G>A	uc001pdj.4	+	8	6302	c.6285G>A	c.(6283-6285)gtG>gtA	p.V2095V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2095	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGTTCAAGTGGATGCGGAAC	0.483000										TCGA Ovarian(4;0.039)				39			303		0	0	0.00361006	0	0
FLNB	2317	broad.mit.edu	37	3	58154221	58154221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:58154221C>T	uc003djj.2	+	43	7418	c.7253C>T	c.(7252-7254)tCc>tTc	p.S2418F	FLNB_uc010hne.2_Missense_Mutation_p.S2449F|FLNB_uc003djk.2_Missense_Mutation_p.S2407F|FLNB_uc010hnf.2_Missense_Mutation_p.S2394F|FLNB_uc003djl.2_Missense_Mutation_p.S2238F|FLNB_uc003djm.2_Missense_Mutation_p.S2225F|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2418	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGACATTATCCGTCACCATC	0.488000														1			23		0	0	0.000878237	0	0
PAG1	55824	broad.mit.edu	37	8	81888983	81888983	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:81888983G>A	uc003ybz.3	-	8	1806	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA.	365					T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGTTTTTTCGAAGTCTTTAA	0.507000														46			21		0	0	0.00188189	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650528	94650528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:94650528C>T	uc001dqj.4	-	17	2378	c.2009G>A	c.(2008-2010)gGa>gAa	p.G670E	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.G236E	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	670					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAATTCTGCTCCAAATAAGTG	0.348000														29			62		0	0	0.00361006	0	0
NUP62	23636	broad.mit.edu	37	19	50411714	50411714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50411714G>A	uc002prb.3	-	1	1595	c.1351C>T	c.(1351-1353)Ctc>Ttc	p.L451F	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.L451F|NUP62_uc002pqy.3_Missense_Mutation_p.L451F|NUP62_uc002pra.3_Missense_Mutation_p.L451F|NUP62_uc002pqz.3_Missense_Mutation_p.L451F|NUP62_uc002prc.3_Missense_Mutation_p.L375F|NUP62_uc021uya.1_Missense_Mutation_p.L451F	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	451					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATGTCCTTGAGATCCTGGGCC	0.592000														183			43		0	0	0.00321405	0	0
HMCN1	83872	broad.mit.edu	37	1	185934984	185934984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:185934984G>A	uc001grq.1	+	13	2378	c.2149G>A	c.(2149-2151)Gat>Aat	p.D717N	HMCN1_uc001grr.1_Missense_Mutation_p.D58N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	717	Ig-like C2-type 4.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.D717N(2)		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						TGCCCTTGGGGATATAACCGT	0.398000														73			28		0	0	0.00283554	0	0
OR6C65	403282	broad.mit.edu	37	12	55794521	55794521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:55794521C>T	uc010spl.2	+	0	209	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTAGAAATTTCATTTACGACA	0.318000														35			17		0	0	0.000422831	0	0
MGAM	8972	broad.mit.edu	37	7	141759293	141759293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141759293G>A	uc003vwy.3	+	31	3895	c.3841G>A	c.(3841-3843)Gac>Aac	p.D1281N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1281	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCAGACATCGACTACATGGA	0.567000														30			17		0	0	0.000958276	0	0
EPX	8288	broad.mit.edu	37	17	56272453	56272453	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56272453C>T	uc002ivq.3	+	5	842	c.723C>T	c.(721-723)tcC>tcT	p.S241S		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	241					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCCGGAGTCCCCGGCCAGAG	0.617000														45			23		0	0	0.000720815	0	0
MBD5	55777	broad.mit.edu	37	2	149226928	149226928	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:149226928C>T	uc002twm.4	+	8	2413	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	472						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATGGAAATTTCATGATGCCAC	0.512000														27			26		0	0	0.00395357	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588986	140588986	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140588986C>T	uc003liz.3	+	0	696	c.507C>T	c.(505-507)agC>agT	p.S169S	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	169	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTAAAAAGCTACACAATAA	0.393000														41			15		0	0	0.00316338	0	0
RGPD5	84220	broad.mit.edu	37	2	113127769	113127770	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:113127769_113127770GG>AA	uc002ths.2	-	22	5475_5476	c.5283_5284CC>TT	c.(5281-5286)tcccgt>tcTTgt	p.R1762C	RGPD5_uc010fkk.2_Missense_Mutation_p.R1622C	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1762					intracellular transport	cytoplasm	binding			central_nervous_system(1)	1						CCAGAAGAACGGGAAGGATTTT	0.302000														60			40		0	0	6.4e-05	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780260	91780260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:91780260C>T	uc010aty.3	-	14	2054	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	634					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCTCCCTCTCCAGCTTCTCT	0.627000														8			23		0	0	0.00278032	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593811	16593811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:16593811G>A	uc002gqk.1	+	0	173	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	33																	CGGGAGCCAGGGGGACCAGTG	0.657000														3			21		0	0	0.00152264	0	0
TRIM67	440730	broad.mit.edu	37	1	231333210	231333210	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:231333210C>T	uc009xfn.1	+	1	1180	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	380						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCAGCAGATCCAGGTGAGCAC	0.468000														48			23		0	0	0.00332997	0	0
NMUR1	10316	broad.mit.edu	37	2	232393679	232393679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:232393679C>T	uc002vry.4	-	1	163	c.53G>A	c.(52-54)gGg>gAg	p.G18E		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	18					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCTTGCACCCCCTGGGTACAG	0.572000														22			18		0	0	0.00152264	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376333	75376333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:75376333C>T	uc010tux.2	-	6	1711	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_Missense_Mutation_p.E147K|RPS6KL1_uc021rwp.1_Missense_Mutation_p.E364K	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	395	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ACCAGCATCTCTGCCGCCCAC	0.687000														50			21		0	0	0.00332997	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185599	92185599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:92185599G>A	uc001doh.3	-	8	1779	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	TGFBR3_uc009wde.3_Missense_Mutation_p.P199S|TGFBR3_uc010osy.2_Missense_Mutation_p.P380S|TGFBR3_uc001doi.3_Missense_Mutation_p.P421S|TGFBR3_uc001doj.3_Missense_Mutation_p.P421S	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	422					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTTGGCCGAGGGAGCCCATCT	0.557000														44			109		0	0	0.00361006	0	0
CHD7	55636	broad.mit.edu	37	8	61655051	61655051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:61655051C>T	uc003xue.3	+	1	1552	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	CHD7_uc022aux.1_Missense_Mutation_p.P354S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	354					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGTAGGATTCCCATCAAACAG	0.438000														27			39		0	0	0.00128727	0	0
CSMD2	114784	broad.mit.edu	37	1	34052167	34052167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:34052167C>T	uc001bxm.1	-	45	7165	c.6988G>A	c.(6988-6990)Gaa>Aaa	p.E2330K	CSMD2_uc001bxn.1_Missense_Mutation_p.E2332K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2332	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCAGAATTTCATTCCCCACT	0.478000														23			48		0	0	0.00361006	0	0
FSTL4	23105	broad.mit.edu	37	5	132939621	132939621	+	Silent	SNP	C	T	T	rs148304695		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132939621C>T	uc003kyn.1	-	1	272	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	18						extracellular region	calcium ion binding	p.L17L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGCGCAGCCGGCAGGGAGG	0.527000														38			37		0	0	0.00128727	0	0
POM121C	100101267	broad.mit.edu	37	7	75052288	75052288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:75052288G>A	uc003udk.4	-	12	2132	c.1247C>T	c.(1246-1248)aCc>aTc	p.T416I		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	658	Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TGCTTGAAGGGTTGGAGGTGC	0.602000														30			71		0	0	0.00361006	0	0
CDH22	64405	broad.mit.edu	37	20	44806775	44806775	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:44806775G>A	uc002xrm.2	-	9	2124	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	CDH22_uc010ghk.1_Silent_p.F575F	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	575	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGGGCAGGAAGAACACGTCCT	0.647000														29			13		0	0	0.00136819	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555149	44555149	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:44555149C>T	uc010xdb.2	-	0	1301	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	355	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGACCCCTTCCACGTCGCCGA	0.647000														468			40		0	0	0.00361006	0	0
ZNF502	91392	broad.mit.edu	37	3	44762592	44762592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:44762592C>T	uc011baa.2	+	3	538	c.283C>T	c.(283-285)Cct>Tct	p.P95S	ZNF502_uc003cns.3_Missense_Mutation_p.P95S|ZNF502_uc011bab.2_Missense_Mutation_p.P95S|ZNF502_uc003cnt.3_Missense_Mutation_p.P95S	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGAAGCACCCCCTGAAATTAT	0.423000														40			17		0	0	0.000422831	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976108	120976108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:120976108C>T	uc003eec.4	+	16	1900	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	STXBP5L_uc011bji.2_Missense_Mutation_p.S587L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	587					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTTCCTTCTTCAAGGAGTCTT	0.418000														63			54		0	0	0.00361006	0	0
OR52A1	23538	broad.mit.edu	37	11	5173450	5173450	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:5173450G>A	uc010qyy.2	-	0	150	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	50					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGATTTGATGATGCTCAGAA	0.463000														24			19		0	0	0.00188189	0	0
CPB1	1360	broad.mit.edu	37	3	148559645	148559645	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:148559645C>T	uc003ewl.3	+	5	533	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	170					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGCCATTTTCATGGACTGTG	0.438000														78			75		0	0	0.00361006	0	0
ZNF197	10168	broad.mit.edu	37	3	44684197	44684197	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:44684197C>T	uc003cnm.3	+	5	1781	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	525					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAAGAGCCTCATTCTGCACC	0.423000														41			76		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9089251	9089251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9089251G>A	uc002mkp.3	-	0	2768	c.2564C>T	c.(2563-2565)cCt>cTt	p.P855L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	855	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						ATGAGTGGAAGGAGTAGATGA	0.463000														27			41		0	0	0.00170553	0	0
ZNF671	79891	broad.mit.edu	37	19	58234583	58234583	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58234583C>T	uc002qpz.4	-	2	364	c.265_splice	c.e2+1	p.G89_splice	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Splice_Site_p.G12_splice|ZNF671_uc010yhf.2_Intron	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGACCTTACCCAGTGAGGCTA	0.468000														54			61		0	0	0.00361006	0	0
MUC17	140453	broad.mit.edu	37	7	100679937	100679937	+	Missense_Mutation	SNP	G	A	A	rs71286279		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100679937G>A	uc003uxp.1	+	2	5293	c.5240G>A	c.(5239-5241)gGa>gAa	p.G1747E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1747	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					CCTAGTGAAGGAACCACTCCA	0.512000														244			149		0	0	0.00361006	0	0
DUXA	503835	broad.mit.edu	37	19	57665801	57665801	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57665801G>A	uc002qoa.1	-	5	639	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TGGCTCCAGAGAAATGAGAGT	0.418000														47			16		0	0	0.00074312	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307836	140307836	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140307836C>T	uc003lih.2	+	0	1535	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.F453F	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	477	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F453F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTTTTCGTTGCTGAAA	0.532000														40			47		0	0	0.00361006	0	0
PANX1	24145	broad.mit.edu	37	11	93912978	93912978	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:93912978C>T	uc001per.3	+	3	1141	c.756C>T	c.(754-756)atC>atT	p.I252I	PANX1_uc001peq.3_Silent_p.I252I	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	252					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	p.G251W(2)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATCAGGGATCCTGAGAAACG	0.478000														4			55		0	0	0.00361006	0	0
OR8K5	219453	broad.mit.edu	37	11	55927433	55927433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:55927433C>T	uc010rja.2	-	0	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y120N(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ACATAGCGGTCATAGGCCATG	0.418000														50			48		0	0	0.00321405	0	0
DLEC1	9940	broad.mit.edu	37	3	38101301	38101301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38101301G>A	uc003chp.1	+	2	652	c.631G>A	c.(631-633)Gat>Aat	p.D211N	DLEC1_uc003cho.1_Missense_Mutation_p.D211N|DLEC1_uc010hgv.1_Missense_Mutation_p.D211N|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	211					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTCCCCAGAAGATTACTACAC	0.478000														144			61		0	0	0.00361006	0	0
EPG5	57724	broad.mit.edu	37	18	43535255	43535255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:43535255G>A	uc002lbm.3	-	1	213	c.113C>T	c.(112-114)tCc>tTc	p.S38F	EPG5_uc002lbo.1_Missense_Mutation_p.S38F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	38					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTTTGGAAGGGAGACTTCACT	0.398000														29			42		0	0	0.00321405	0	0
RP1	6101	broad.mit.edu	37	8	55540655	55540655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:55540655G>A	uc003xsd.1	+	3	4361	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1405					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGCCTAAGTGAAAAAGAAGC	0.318000														61			27		0	0	0.000720815	0	0
TTN	7273	broad.mit.edu	37	2	179590525	179590525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179590525C>T	uc021vsy.1	-	66	17017	c.16792G>A	c.(16792-16794)Gat>Aat	p.D5598N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2259N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6525							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)			ACACAAGTATCACTTCCCACT	0.373000														79			42		0	0	0.00321405	0	0
TPO	7173	broad.mit.edu	37	2	1488382	1488382	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1488382G>A	uc002qwr.3	+	8	1439	c.1353G>A	c.(1351-1353)agG>agA	p.R451R	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.R451R|TPO_uc002qwx.3_Silent_p.R451R|TPO_uc002qwu.3_Silent_p.R451R|TPO_uc010yio.2_Silent_p.R278R|TPO_uc010yip.2_Silent_p.R451R|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	451					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCACCCTGAGGGATTACATCC	0.577000														27			9		0	0	0.000673444	0	0
CCNA1	8900	broad.mit.edu	37	13	37014123	37014123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:37014123G>A	uc001uvr.4	+	5	1251	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CCNA1_uc010teo.2_Missense_Mutation_p.E257K|CCNA1_uc010abq.3_Missense_Mutation_p.E257K|CCNA1_uc010abp.3_Missense_Mutation_p.E257K|CCNA1_uc001uvs.4_Missense_Mutation_p.E300K|CCNA1_uc010abr.3_Intron	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	301					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGGAAATATGAAGAGATATA	0.418000														12			17		0	0	0.00074312	0	0
ADAM10	102	broad.mit.edu	37	15	58936118	58936118	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:58936118G>A	uc002afd.1	-	6	1239	c.795C>T	c.(793-795)atC>atT	p.I265I	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	265	Peptidase M12B.				Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding	p.G264R(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGATGTTACGGATTCCGGAGA	0.338000														81			30		0	0	0.00375469	0	0
SLC43A3	29015	broad.mit.edu	37	11	57156618	57156618	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:57156618G>A	uc001nkc.3	-	2	305	c.231C>T	c.(229-231)atC>atT	p.I77I	SLC43A3_uc001nkd.3_Silent_p.I77I|SLC43A3_uc001nke.3_Silent_p.I357I	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTGGCACTGAGATAGACTCAA	0.557000														41			79		0	0	0.00361006	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99273742	99273742	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:99273742T>C	uc003htw.4	+	3	544	c.354T>C	c.(352-354)tgT>tgC	p.C118C	RAP1GDS1_uc003htx.4_Silent_p.C117C|RAP1GDS1_uc003htv.4_Silent_p.C118C|RAP1GDS1_uc003htz.4_Silent_p.C117C|RAP1GDS1_uc003hty.4_Silent_p.C118C|RAP1GDS1_uc003hua.4_Silent_p.C118C	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	117							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GAAACATATGTTACGATAGCC	0.398000			T	NUP98	T-ALL									17			7		0	0	0.00198382	0	0
SHANK1	50944	broad.mit.edu	37	19	51218985	51218985	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51218985G>A	uc002psx.1	-	2	481	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	154					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCTTGTATCGGAACTGAGGTC	0.532000														171			35		0	0	0.00195071	0	0
C5orf42	65250	broad.mit.edu	37	5	37183667	37183667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:37183667C>T	uc011cpa.1	-	25	4847	c.4616G>A	c.(4615-4617)gGt>gAt	p.G1539D	C5orf42_uc011coy.1_Missense_Mutation_p.G40D|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.G614D|C5orf42_uc011cpb.1_Missense_Mutation_p.G420D	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1539										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCCCAAACACCTATTACAGG	0.323000														4			29		0	0	0.00106085	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684175	75684175	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:75684175C>T	uc010oqz.1	-	16	1712	c.1646_splice	c.e16+1	p.R549_splice	SLC44A5_uc001dgt.2_Splice_Site_p.R510_splice|SLC44A5_uc001dgs.2_Splice_Site_p.R468_splice|SLC44A5_uc001dgr.2_Splice_Site_p.R468_splice|SLC44A5_uc001dgu.3_Splice_Site_p.R510_splice|SLC44A5_uc010ora.2_Splice_Site_p.R504_splice|SLC44A5_uc010orb.2_Splice_Site_p.R380_splice	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	510						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						TGAAACTTACCGTATGGCTCG	0.423000														43			102		0	0	0.00361006	0	0
NTNG1	22854	broad.mit.edu	37	1	107979412	107979412	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:107979412G>C	uc001dvh.4	+	6	2099	c.1381G>C	c.(1381-1383)Ggc>Cgc	p.G461R	NTNG1_uc001dvc.4_Intron|NTNG1_uc010out.2_Missense_Mutation_p.G427R|NTNG1_uc001dvf.4_Intron|NTNG1_uc001dvi.3_Silent_p.T28T|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Intron|NTNG1_uc009wem.3_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	461	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTGGCACTACGGCTGTCAACG	0.522000														29			8		0	0	0.000442599	0	0
DEFB127	140850	broad.mit.edu	37	20	138224	138224	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:138224G>A	uc002wcy.1	+	0	39	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	Homo sapiens defensin, beta 127 (DEFB127), mRNA.	13					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGCTGTTCCAGAAACCCACAG	0.473000														30			52		0	0	0.00361006	0	0
PANX3	116337	broad.mit.edu	37	11	124489263	124489263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:124489263C>T	uc001qah.3	+	3	611	c.611C>T	c.(610-612)tCg>tTg	p.S204L		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	204					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CGTTCACATTCGCTAGTGGCT	0.512000														3			42		0	0	0.0025221	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882278	7882278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7882278G>A	uc001qtg.1	-	5	730	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	CLEC4C_uc001qth.1_Missense_Mutation_p.R186C|CLEC4C_uc001qti.1_Missense_Mutation_p.R155C	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	186	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TCTGAAGAACGGAAATTTATT	0.398000														45			18		0	0	0.00074312	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564661	176564661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176564661G>A	uc001gkz.3	+	2	3085	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	PAPPA2_uc001gky.1_Missense_Mutation_p.D641N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	641	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CGACTTTGACGACGGAGACTG	0.597000														37			11		0	0	0.000978159	0	0
GPR123	84435	broad.mit.edu	37	10	134896174	134896174	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:134896174G>A	uc001llw.3	+	5	1260	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCTTGGCCTGAGGTGGGCAT	0.622000														4			16		0	0	0.00074312	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706137	92706137	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:92706137C>T	uc002bqx.2	+	9	2106	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	SLCO3A1_uc002bqy.2_Silent_p.S635S|SLCO3A1_uc002bqz.1_Silent_p.S577S	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	635					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CGCTCAAATCCTTCGCCTTCA	0.542000														20			36		0	0	0.00195071	0	0
TBPL2	387332	broad.mit.edu	37	14	55902610	55902610	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:55902610C>T	uc001xby.3	-	2	651	c.651G>A	c.(649-651)ctG>ctA	p.L217L		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	217					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTATTTTCTTCAGATCCAACT	0.299000														54			22		0	0	0.00106085	0	0
DAB2	1601	broad.mit.edu	37	5	39376177	39376178	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:39376177_39376178GG>AA	uc003jlx.3	-	12	2699_2700	c.2168_2169CC>TT	c.(2167-2169)tcc>tTT	p.S723F	DAB2_uc003jlw.3_Missense_Mutation_p.S702F	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	723	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TAACTGGCAGGGAAACTTGTCT	0.436000														3			28		0	0	6.4e-05	0	0
C12orf51	283450	broad.mit.edu	37	12	112688077	112688077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:112688077G>A	uc021reb.1	-	24	3815	c.3419C>T	c.(3418-3420)cCc>cTc	p.P1140L	C12orf51_uc010syk.1_Missense_Mutation_p.P674L|C12orf51_uc001tts.2_Missense_Mutation_p.P665L|C12orf51_uc001ttt.3_Missense_Mutation_p.P663L	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GACATCAGAGGGGTAGGTGAA	0.547000														41			54		0	0	0.00361006	0	0
IL9	3578	broad.mit.edu	37	5	135228119	135228119	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:135228119G>A	uc003lbb.1	-	4	407	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_000590	NP_000581	P15248	IL9_HUMAN	Homo sapiens interleukin 9 (IL9), mRNA.	132					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	p.I131I(1)		large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTCTTTCTGGAAAATTTCCA	0.368000														60			31		0	0	0.0024448	0	0
DPEP3	64180	broad.mit.edu	37	16	68014061	68014061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:68014061G>A	uc002evc.4	-	0	392	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	DPEP3_uc010cex.3_Missense_Mutation_p.P100S	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	75					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)		AGGGTTTTGGGGGTGCCTGGC	0.692000														51			10		0	0	0.00136819	0	0
ITPR1	3708	broad.mit.edu	37	3	4852968	4852968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:4852968G>A	uc003bqc.3	+	54	7597	c.7247G>A	c.(7246-7248)aGa>aAa	p.R2416K	ITPR1_uc021wsi.1_Missense_Mutation_p.R2383K|ITPR1_uc021wsj.1_Missense_Mutation_p.R2368K|ITPR1_uc011asu.2_Missense_Mutation_p.R394K|ITPR1_uc010hcc.2_Missense_Mutation_p.R151K|ITPR1_uc011asv.2_Missense_Mutation_p.R107K	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2431					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTAGTGTACAGAGAAGAGACT	0.373000														9			15		0	0	0.00316338	0	0
COL22A1	169044	broad.mit.edu	37	8	139626126	139626126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139626126C>T	uc003yvd.3	-	55	4409	c.3962G>A	c.(3961-3963)gGa>gAa	p.G1321E	COL22A1_uc011ljo.2_Missense_Mutation_p.G601E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1321	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCCCTTGGTCCTTGGGGACC	0.502000										HNSCC(7;0.00092)				185			54		0	0	0.00361006	0	0
TRPM2	7226	broad.mit.edu	37	21	45821720	45821720	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:45821720C>T	uc010gpt.1	+	15	2578	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S	TRPM2_uc002zet.1_Silent_p.S826S|TRPM2_uc002zeu.1_Silent_p.S826S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.S826S|TRPM2_uc002zex.1_Silent_p.S612S|TRPM2_uc002zey.1_Silent_p.S339S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	826						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGTGCCCTCCTGGTGCGAGT	0.637000														180			132		0	0	0.00361006	0	0
RPH3A	22895	broad.mit.edu	37	12	113303295	113303295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:113303295G>A	uc010syl.2	+	5	669	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	RPH3A_uc001ttz.3_Missense_Mutation_p.E103K|RPH3A_uc001tty.3_Missense_Mutation_p.E99K|RPH3A_uc009zwe.1_Missense_Mutation_p.E99K|RPH3A_uc010sym.2_Missense_Mutation_p.E54K|RPH3A_uc001tua.3_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	103	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.E99*(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACTGTGTGGAGAACAGCTGGG	0.532000														28			47		0	0	0.00361006	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438691	6438691	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:6438691G>A	uc001qnu.3	-	9	1458	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	TNFRSF1A_uc001qnt.3_Silent_p.I277I|TNFRSF1A_uc010sey.2_Silent_p.I153I|TNFRSF1A_uc010sez.2_Silent_p.I277I|TNFRSF1A_uc009zek.3_Silent_p.I342I	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	385	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCAGCCGATCGATCTCGTGGT	0.701000														9			11		0	0	0.00244969	0	0
NLRP9	338321	broad.mit.edu	37	19	56243522	56243522	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56243522T>C	uc002qly.3	-	1	1703	c.1675A>G	c.(1675-1677)Acc>Gcc	p.T559A		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	559						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCACTTTGGTTACAAATTCT	0.333000														81			15		0	0	0.00316338	0	0
PPP4R4	57718	broad.mit.edu	37	14	94712823	94712823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:94712823G>A	uc001ycs.1	+	13	1712	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	520						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.D520N(2)|p.S519S(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CATATCAAGCGATCAGATTTA	0.403000														47			74		0	0	0.00361006	0	0
PSG2	5670	broad.mit.edu	37	19	43585319	43585319	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:43585319C>T	uc002ovr.3	-	1	316	c.144G>A	c.(142-144)ggG>ggA	p.G48G	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	48	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GAACATCCTTCCCCTCGGAAA	0.478000														110			9		0	0	0.00316338	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20876032	20876032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:20876032C>T	uc010sii.2	+	9	1385	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	SLCO1C1_uc010sij.2_Missense_Mutation_p.P295S|SLCO1C1_uc009zip.3_Missense_Mutation_p.P178S|SLCO1C1_uc001rei.3_Missense_Mutation_p.P344S|SLCO1C1_uc010sik.2_Missense_Mutation_p.P226S	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	344					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.P344S(3)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AGATTTTCTTCCATCACTGAA	0.413000														33			30		0	0	0.00209593	0	0
TNS4	84951	broad.mit.edu	37	17	38652406	38652407	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:38652406_38652407GG>AT	uc010cxb.3	-	1	435_436	c.271_272CC>AT	c.(271-273)cca>ATa	p.P91I		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	91					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P91T(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AAGGTCCTCTGGGGTCCCCAAG	0.634000														7			53		0	0	6.4e-05	0	0
MPL	4352	broad.mit.edu	37	1	43805060	43805060	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:43805060C>T	uc001ciw.3	+	3	555	c.510C>T	c.(508-510)cgC>cgT	p.R170R	MPL_uc001civ.3_Silent_p.R170R|MPL_uc009vwr.3_Silent_p.R163R	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	170	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGAACTCCGCTATGGCCCCA	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							21			57		0	0	0.00361006	0	0
PGR	5241	broad.mit.edu	37	11	100999145	100999145	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:100999145C>T	uc001pgh.2	-	0	1400	c.657G>A	c.(655-657)gtG>gtA	p.V219V	PGR_uc001pgi.2_Silent_p.V219V|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	219	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCTCAACCTCCACCGCAGCGG	0.711000														2			13		0	0	0.00316338	0	0
WRAP53	55135	broad.mit.edu	37	17	7605064	7605064	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7605064C>T	uc010vuh.2	+	6	1067	c.912C>T	c.(910-912)tcC>tcT	p.S304S	WRAP53_uc010vui.2_Silent_p.S304S|WRAP53_uc002gip.3_Silent_p.S304S|WRAP53_uc002gir.3_Silent_p.S304S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S271S|WRAP53_uc010vuj.2_Silent_p.S85S	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	304					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GTGTTTTTTCCACGGCCCGGC	0.627000														6			53		0	0	0.00361006	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548624	20548624	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20548624G>A	uc002dhj.4	-	14	1900	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.R564*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	564					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.R564*(4)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCCTTGTCTCGAAGTTTGGTT	0.463000														86			113		0	0	0.00361006	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549895	71549895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:71549895G>A	uc004agu.3	+	12	1596	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	PIP5K1B_uc011lrq.2_Missense_Mutation_p.E431K|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	431						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AATTAGCCAGGAATGGAAGGA	0.428000														12			24		0	0	0.00395357	0	0
STAT5B	6777	broad.mit.edu	37	17	40370323	40370323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:40370323G>A	uc002hzh.3	-	8	1184	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	STAT5B_uc002hzi.3_Missense_Mutation_p.P339S	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	339					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGGACCTGAGGAGGCTGCTTC	0.612000														66			16		0	0	0.000958276	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48204647	48204647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:48204647C>T	uc002phh.4	+	14	3852	c.3658C>T	c.(3658-3660)Cgg>Tgg	p.R1220W	GLTSCR1_uc002phi.4_Missense_Mutation_p.R978W	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	1220							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGAGGGTCATCGGCTTCCCGG	0.682000														5			3		0	0	6.4e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41684257	41684257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:41684257G>A	uc002yyq.1	-	8	2265	c.1813C>T	c.(1813-1815)Cca>Tca	p.P605S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	605	Ig-like C2-type 7.				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)				GAGAATCTTGGAAACTCAAAG	0.468000														18			13		0	0	0.00185496	0	0
ANKRD52	283373	broad.mit.edu	37	12	56637082	56637082	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56637082G>A	uc001skm.4	-	27	3165	c.3075C>T	c.(3073-3075)gaC>gaT	p.D1025D		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	1025							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GACTGACGGCGTCCTTGGGTG	0.632000														39			19		0	0	0.00278032	0	0
SLC4A10	57282	broad.mit.edu	37	2	162821560	162821560	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:162821560G>A	uc002ubx.4	+	23	3221	c.3037_splice	c.e23-1	p.V1013_splice	SLC4A10_uc010zcs.2_Splice_Site_p.V994_splice|SLC4A10_uc002uby.4_Splice_Site_p.V983_splice	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1013					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTTACTTCAGGTGTTAGCCC	0.368000														36			19		0	0	0.00074312	0	0
AGRN	375790	broad.mit.edu	37	1	981185	981185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:981185C>T	uc001ack.2	+	14	2659	c.2609C>T	c.(2608-2610)cCc>cTc	p.P870L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	870	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TCGTGTAAGCCCGGGGTGGCT	0.672000														22			72		0	0	0.00361006	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76669317	76669317	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:76669317C>T	uc011kgn.1	+	6		c.1145C>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufy.2_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		GTCAGTCCATCAGATTTGCTC	0.413000														143			47		0	0	0.00361006	0	0
OR4K5	79317	broad.mit.edu	37	14	20388956	20388956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:20388956G>A	uc010tkw.2	+	0	191	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTCTTGGGAAACCTTTCC	0.433000														139			88		0	0	0.00361006	0	0
LPA	4018	broad.mit.edu	37	6	161006193	161006193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:161006193C>T	uc003qtl.3	-	26	4294	c.4174G>A	c.(4174-4176)Gat>Aat	p.D1392N		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3900	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTCTGTCCATCACCTCGGTAG	0.463000														10			106		0	0	0.00361006	0	0
NVL	4931	broad.mit.edu	37	1	224477369	224477369	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:224477369G>A	uc001hok.3	-	12	1454	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	NVL_uc001hol.3_Silent_p.H358H|NVL_uc010pvd.2_Silent_p.H373H|NVL_uc010pve.2_Silent_p.H275H|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	464						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTGGAGTTAGGTGTGCTAAGT	0.433000														33			17		0	0	0.00074312	0	0
SGK2	10110	broad.mit.edu	37	20	42199686	42199686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:42199686C>T	uc002xkv.3	+	6	895	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F	SGK2_uc002xkr.3_Missense_Mutation_p.L166F|SGK2_uc010ggm.3_Missense_Mutation_p.L166F|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.L166F	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	226	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGAGAACATTCTCTTGGACTG	0.498000														91			59		0	0	0.00361006	0	0
MRO	83876	broad.mit.edu	37	18	48333088	48333088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:48333088C>T	uc010dpa.3	-	2	423	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	MRO_uc010xdn.2_Missense_Mutation_p.E78K|MRO_uc002lew.4_Missense_Mutation_p.E78K|MRO_uc010dpb.3_Missense_Mutation_p.E92K|MRO_uc010dpc.3_Missense_Mutation_p.E78K|MRO_uc002lex.4_Missense_Mutation_p.E78K	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	78						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCAGGGGCTTCATAGGCCATG	0.547000														60			61		0	0	0.00361006	0	0
IL17RE	132014	broad.mit.edu	37	3	9948696	9948696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:9948696C>T	uc003btu.3	+	6	702	c.698C>T	c.(697-699)aCc>aTc	p.T233I	CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.T193I|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Missense_Mutation_p.T77I|IL17RE_uc010hcq.3_Missense_Mutation_p.T193I|IL17RE_uc003btw.3_Missense_Mutation_p.T193I	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	193						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ATTCGGGTGACCATATCTTCA	0.572000														48			25		0	0	0.00395357	0	0
USH1C	10083	broad.mit.edu	37	11	17523497	17523497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:17523497G>A	uc001mnf.3	-	15	1424	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	USH1C_uc001mne.3_Missense_Mutation_p.P739S|USH1C_uc009yhb.3_Missense_Mutation_p.P420S|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.P403S	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	439					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATAGAGTAGGGGTCAAAGCCT	0.542000														24			7		0	0	0.00307968	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34839369	34839369	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:34839369C>T	uc003oju.4	+	18	4224	c.3990C>T	c.(3988-3990)atC>atT	p.I1330I	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1330										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATGATATCCCCCCCATCT	0.517000														26			37		0	0	0.00170553	0	0
HDAC9	9734	broad.mit.edu	37	7	19015469	19015469	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:19015469G>A	uc003sui.3	+	23	3104	c.3063G>A	c.(3061-3063)agG>agA	p.R1021R	HDAC9_uc003sue.3_Silent_p.R1018R|HDAC9_uc003suj.3_Silent_p.R977R|HDAC9_uc003suk.3_Silent_p.R266R	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	0					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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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)	CTGTGCCAAGGGGCTGTGCTC	0.478000														34			17		0	0	0.000958276	0	0
STX5	6811	broad.mit.edu	37	11	62592792	62592792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62592792G>A	uc001nvh.3	-	6	717	c.560C>T	c.(559-561)tCc>tTc	p.S187F	STX5_uc010rmj.2_Missense_Mutation_p.S187F|STX5_uc010rmi.2_Missense_Mutation_p.S91F	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	187					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus	SNAP receptor activity|protein N-terminus binding			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAGTCATTGGACATAGAAGC	0.483000														236			122		0	0	0.00361006	0	0
ZNF341	84905	broad.mit.edu	37	20	32349802	32349802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:32349802C>T	uc002wzy.3	+	7	1183	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	ZNF341_uc002wzx.3_Missense_Mutation_p.S381F|ZNF341_uc010geq.3_Missense_Mutation_p.S298F|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TCTCGAAACTCTGTGACCGTA	0.572000														153			59		0	0	0.00361006	0	0
LEPR	3953	broad.mit.edu	37	1	66081851	66081851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:66081851C>T	uc001dci.3	+	14	2545	c.2156C>T	c.(2155-2157)tCa>tTa	p.S719L	LEPR_uc001dcg.3_Missense_Mutation_p.S719L|LEPR_uc001dch.3_Missense_Mutation_p.S719L|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.S719L|LEPR_uc001dcj.3_Missense_Mutation_p.S719L|LEPR_uc001dck.3_Missense_Mutation_p.S719L	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	719	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCCATCAATTCAATTGGTGCT	0.403000														46			8		0	0	0.000442599	0	0
RSAD1	55316	broad.mit.edu	37	17	48562205	48562205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48562205C>T	uc002iqw.1	+	8	1368	c.1312C>T	c.(1312-1314)Cct>Tct	p.P438S	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	438					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AACCCCCTCCCCTGTGCCAGG	0.577000														11			15		0	0	0.000422831	0	0
DNAH10	196385	broad.mit.edu	37	12	124335607	124335607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:124335607G>A	uc001uft.4	+	33	5946	c.5921G>A	c.(5920-5922)gGc>gAc	p.G1974D		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1974	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCTCTGAGGGCTTCCTGGAG	0.642000														36			15		0	0	0.000566183	0	0
ZNF486	90649	broad.mit.edu	37	19	20308600	20308600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:20308600C>T	uc002nou.2	+	3	1138	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGCCTTCACCCGCTCCTCACA	0.428000														19			23		0	0	0.00395357	0	0
GALNT10	55568	broad.mit.edu	37	5	153755896	153755896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:153755896C>T	uc003lvh.3	+	4	760	c.628C>T	c.(628-630)Cga>Tga	p.R210*	GALNT10_uc003lvg.1_Nonsense_Mutation_p.R210*|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	210	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R210*(2)|p.L209L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGGATTCTTCGAACCAAGAA	0.502000														58			32		0	0	0.00178596	0	0
NLRP4	147945	broad.mit.edu	37	19	56390197	56390197	+	Missense_Mutation	SNP	G	A	A	rs141409047		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56390197G>A	uc002qmd.4	+	8	3156	c.2734G>A	c.(2734-2736)Gat>Aat	p.D912N	NLRP4_uc002qmf.3_Missense_Mutation_p.D837N|NLRP4_uc010etf.3_Missense_Mutation_p.D687N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	912							ATP binding	p.D912N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGCTGTAAGGATCTCGCGTC	0.542000														48			7		0	0	0.00307968	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461796	50461797	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50461796_50461797GG>AA	uc010ybh.2	-	7	1485_1486	c.1394_1395CC>TT	c.(1393-1395)tcc>tTT	p.S465F	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	465					cell adhesion	integral to membrane	sugar binding	p.S465A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGCCTCCCAGGAGCAGGAGGG	0.698000														24			6		0	0	6.4e-05	0	0
LIG1	3978	broad.mit.edu	37	19	48640929	48640929	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:48640929G>A	uc002pia.1	-	12	1224	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	LIG1_uc010xze.1_Silent_p.S61S|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.S300S|LIG1_uc010xzg.1_Silent_p.S337S|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	368					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CAGCCCGGACGGACTCCAGCT	0.662000								Nucleotide excision repair (NER)						15			4		0	0	0.00116845	0	0
NEDD4L	23327	broad.mit.edu	37	18	56008369	56008369	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:56008369C>T	uc002lgy.3	+	13	1508	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	NEDD4L_uc002lgz.3_Intron|NEDD4L_uc002lgx.3_Nonsense_Mutation_p.R389*|NEDD4L_uc010xee.1_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhc.2_Nonsense_Mutation_p.R401*|NEDD4L_uc002lhd.2_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhb.2_Nonsense_Mutation_p.R268*|NEDD4L_uc002lhe.2_Nonsense_Mutation_p.R381*|NEDD4L_uc002lhf.3_Nonsense_Mutation_p.R268*|NEDD4L_uc002lhg.3_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	409	WW 2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCATAACAATCGAACCACAAC	0.488000														8			14		0	0	0.00316338	0	0
KLF17	128209	broad.mit.edu	37	1	44595237	44595237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:44595237G>A	uc001clp.3	+	1	352	c.294G>A	c.(292-294)atG>atA	p.M98I	KLF17_uc009vxf.1_Missense_Mutation_p.M61I	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	98					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGCGTGGTATGAGCTACTGCC	0.567000														34			89		0	0	0.00361006	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762724	176762724	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176762724C>T	uc001gkz.3	+	19	6213	c.5049C>T	c.(5047-5049)atC>atT	p.I1683I	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGTGTAATCCCCCCCAGTG	0.468000														31			41		0	0	0.00321405	0	0
BTBD9	114781	broad.mit.edu	37	6	38547997	38547997	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:38547997C>G	uc003ooa.4	-	5	1607	c.1031G>C	c.(1030-1032)aGc>aCc	p.S344T	BTBD9_uc010jwv.3_Missense_Mutation_p.S285T|BTBD9_uc003ony.4_Missense_Mutation_p.S276T|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.S344T	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	344					cell adhesion			p.N343S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CACTTACCGGCTATCTCGGTC	0.413000														26			16		0	0	0.000422831	0	0
NBPF14	25832	broad.mit.edu	37	1	148004557	148004557	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:148004557G>A	uc001eqq.3	-	21	2789	c.2757C>T	c.(2755-2757)ttC>ttT	p.F919F	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Silent_p.F267F|NBPF14_uc021owa.1_Silent_p.F900F	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	919	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CTTATTGTGGGAATATGACTC	0.463000														360			29		0	0	0.00361006	0	0
NME8	51314	broad.mit.edu	37	7	37916593	37916593	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:37916593C>T	uc003tfn.3	+	11	1350	c.978C>T	c.(976-978)ctC>ctT	p.L326L		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	326	NDK 2.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GACCAAATCTCTTTCATGAAA	0.303000														30			24		0	0	0.00127121	0	0
AVEN	57099	broad.mit.edu	37	15	34159738	34159739	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34159738_34159739GG>AA	uc001zhj.3	-	4	986_987	c.930_931CC>TT	c.(928-933)gacctg>gaTTtg	p.310_311DL>DL		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	310					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	p.L311P(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TTGGATTTCAGGTCCTGAGACG	0.426000														59			37		0	0	6.4e-05	0	0
LAMB1	3912	broad.mit.edu	37	7	107626734	107626734	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:107626734G>A	uc003vev.2	-	3	731	c.570C>T	c.(568-570)ttC>ttT	p.F190F	LAMB1_uc003vew.2_Silent_p.F166F|LAMB1_uc003vex.3_Silent_p.F166F|LAMB1_uc010ljn.1_Silent_p.F252F	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	166	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCATAGGCGAAGTATCTAT	0.448000														96			43		0	0	0.00361006	0	0
DSG4	147409	broad.mit.edu	37	18	28972276	28972276	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:28972276C>T	uc002kwr.2	+	7	1113	c.978C>T	c.(976-978)acC>acT	p.T326T	DSG4_uc002kwq.2_Silent_p.T326T	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	326	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATCCACAAACCAATGAAGGCA	0.333000														27			17		0	0	0.00152264	0	0
LILRA1	11024	broad.mit.edu	37	19	55086256	55086256	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55086256G>A	uc010ern.3	+	4	880	c.411G>A	c.(409-411)ggG>ggA	p.G137G	LILRA1_uc002qgg.4_Silent_p.G137G|LILRA1_uc002qgf.3_Silent_p.G137G|LILRA1_uc010yfe.1_Silent_p.G137G|LILRA1_uc010yff.1_Silent_p.G125G|LILRA1_uc010ero.3_Silent_p.G125G|LILRA1_uc010yfg.1_Silent_p.G137G			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	139	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTTAGGAGGGAACGTGACCC	0.557000														121			25		0	0	0.00395357	0	0
ADAM33	80332	broad.mit.edu	37	20	3655204	3655204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3655204C>T	uc002wit.3	-	5	634	c.547G>A	c.(547-549)Gat>Aat	p.D183N	ADAM33_uc002wir.1_Missense_Mutation_p.D183N|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.D183N|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.D195N|ADAM33_uc010zqh.1_Missense_Mutation_p.D183N	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	183					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R182M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTCCCAGGATCCCTGTGGCCA	0.607000														34			70		0	0	0.00361006	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162941	42162942	+	Silent	DNP	CC	TT	TT	rs143612275		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:42162941_42162942CC>TT	uc002xkn.1	+	7	755_756	c.624_625CC>TT	c.(622-627)ttcctg>ttTTtg	p.208_209FL>FL	L3MBTL1_uc010zwh.2_Silent_p.517_518FL>FL|L3MBTL1_uc002xkm.3_Silent_p.449_450FL>FL|L3MBTL1_uc010ggl.3_Silent_p.449_450FL>FL|L3MBTL1_uc002xkl.3_Silent_p.449_450FL>FL|L3MBTL1_uc002xko.3_Silent_p.101_102FL>FL	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	449					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S207L(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTCACAGCTTCCTGGTCAATAT	0.624000														69			26		0	0	6.4e-05	0	0
CASZ1	54897	broad.mit.edu	37	1	10714564	10714564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:10714564C>T	uc001aro.3	-	9	2070	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	CASZ1_uc001arp.1_Missense_Mutation_p.D584N|CASZ1_uc009vmx.2_Missense_Mutation_p.D608N	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGAAGCCGTCGTTAATGAGC	0.572000														12			147		0	0	0.00361006	0	0
COL7A1	1294	broad.mit.edu	37	3	48624918	48624918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:48624918C>T	uc003ctz.2	-	21	2928	c.2927G>A	c.(2926-2928)tGg>tAg	p.W976*		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	976	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACTGGAGTCCAGGCCAAAGT	0.587000														3			31		0	0	0.00283554	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31484848	31484848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31484848C>T	uc002ecd.2	+	1	134	c.100C>T	c.(100-102)Cct>Tct	p.P34S	TGFB1I1_uc021tgx.1_Missense_Mutation_p.P17S|TGFB1I1_uc002ece.2_Missense_Mutation_p.P17S	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	34	Interaction with PTK2B.|Transcription activation (By similarity).				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCCTCTCACCCCTCCCCCATC	0.647000														34			22		0	0	0.00229938	0	0
DDX23	9416	broad.mit.edu	37	12	49233800	49233800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:49233800G>A	uc001rsm.3	-	3	501	c.410C>T	c.(409-411)cCt>cTt	p.P137L		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	137	Glu-rich.			P -> L (in Ref. 1; AAB87902).		U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTTACCTTAGGCTTCTTATC	0.393000														184			150		0	0	0.00361006	0	0
CAMK2B	816	broad.mit.edu	37	7	44323761	44323761	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:44323761C>T	uc003tkq.2	-	1	339	c.129G>A	c.(127-129)aaG>aaA	p.K43K	CAMK2B_uc003tkp.2_Silent_p.K43K|CAMK2B_uc003tkr.2_Silent_p.K43K|CAMK2B_uc003tks.2_Silent_p.K43K|CAMK2B_uc003tku.2_Silent_p.K43K|CAMK2B_uc003tkv.2_Silent_p.K43K|CAMK2B_uc003tkt.2_Silent_p.K43K|CAMK2B_uc003tkw.2_Silent_p.K43K|CAMK2B_uc010kyc.2_Silent_p.K43K	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	43	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGTTGATGATCTTGGCTGCAT	0.617000														15			9		0	0	0.000673444	0	0
PCDH20	64881	broad.mit.edu	37	13	61986455	61986455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:61986455C>T	uc001vid.4	-	1	2141	c.1777G>A	c.(1777-1779)Gtt>Att	p.V593I	PCDH20_uc010thj.2_Missense_Mutation_p.V593I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	566	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGAGTAGAAACTGTCAGAATT	0.473000														29			46		0	0	0.00361006	0	0
ZNF578	147660	broad.mit.edu	37	19	53014273	53014273	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53014273C>T	uc002pzp.4	+	5	883	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	128					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)		ATAATTTTTTCCATTCATCAT	0.358000														110			30		0	0	0.00106085	0	0
MAS1L	116511	broad.mit.edu	37	6	29455367	29455367	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29455367T>A	uc011dlq.2	-	0	313	c.313A>T	c.(313-315)Acg>Tcg	p.T105S		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	105						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.T105T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TAGGGATTCGTGGCCCCACAG	0.542000														27			25		0	0	0.00332997	0	0
RASGRP4	115727	broad.mit.edu	37	19	38912609	38912609	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38912609C>T	uc021uub.1	-	2	422	c.208_splice	c.e2+1	p.D70_splice	RASGRP4_uc010efz.2_5'Flank|RASGRP4_uc010ega.2_5'Flank|RASGRP4_uc021utz.1_Splice_Site_p.D70_splice|RASGRP4_uc021uua.1_Splice_Site_p.D70_splice|RASGRP4_uc021uuc.1_Splice_Site_p.D70_splice|RASGRP4_uc021uud.1_Splice_Site_p.D70_splice|RASGRP4_uc021uue.1_Splice_Site_p.D70_splice|RASGRP4_uc021uuf.1_Splice_Site_p.D70_splice	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	70	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGACACTTACCGAAGGACTGG	0.572000														8			3		0	0	6.4e-05	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399035	22399035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:22399035G>A	uc001mqk.3	+	11	1911	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	500					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATTTGCCTCAGGAGAGAAACA	0.438000														22			14		0	0	0.00185496	0	0
SHB	6461	broad.mit.edu	37	9	37955894	37955894	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:37955894G>A	uc004aax.3	-	3	1780	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	404	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCTTCTCCAGGGGGACGGCAG	0.527000														3			24		0	0	0.001512	0	0
LYZ	4069	broad.mit.edu	37	12	69742288	69742288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:69742288G>A	uc001suw.2	+	0	155	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_000239	NP_000230	P61626	LYSC_HUMAN	Homo sapiens lysozyme (LYZ), mRNA.	34					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GAAAAGATTGGGAATGGATGG	0.473000														41			10		0	0	0.000978159	0	0
ATG2B	55102	broad.mit.edu	37	14	96811000	96811000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:96811000C>T	uc001yfi.3	-	3	937	c.572G>A	c.(571-573)cGa>cAa	p.R191Q		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	191										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCTTTCTATTCGAATTTCAAG	0.313000														31			15		0	0	0.00244969	0	0
C15orf59	388135	broad.mit.edu	37	15	74032412	74032412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:74032412G>A	uc002avy.3	-	1	1073	c.728C>T	c.(727-729)tCt>tTt	p.S243F		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	243										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTCAGTGGAGAGCGCCGTGA	0.637000														41			33		0	0	0.00178596	0	0
PPARA	5465	broad.mit.edu	37	22	46594462	46594462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:46594462C>T	uc003bhb.1	+	1	305	c.182C>T	c.(181-183)cCt>cTt	p.P61L	PPARA_uc003bgw.1_Missense_Mutation_p.P61L|PPARA_uc003bgx.1_Missense_Mutation_p.P61L|PPARA_uc010hab.1_Missense_Mutation_p.P61L|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Missense_Mutation_p.P61L|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	61					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GGAAGCTGTCCTGGCTCAGAT	0.428000														61			62		0	0	0.00361006	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667783	70667783	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:70667783T>A	uc003xyl.3	-	3	1841	c.1134A>T	c.(1132-1134)aaA>aaT	p.K378N	SLCO5A1_uc010lzb.3_Missense_Mutation_p.K378N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.K378N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.K378N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	378	Poly-Lys.					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)			TCTTTTTCTTTTTCTTGTGTC	0.368000														42			26		0	0	0.00395357	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189520	167189520	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:167189520G>A	uc003fes.1	-	1	204	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	SERPINI2_uc003fer.1_Nonsense_Mutation_p.Q35*|SERPINI2_uc003fet.1_Nonsense_Mutation_p.Q35*	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	35					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAAACCTCTTGATAAAGATCC	0.393000														89			92		0	0	0.00361006	0	0
FZD10	11211	broad.mit.edu	37	12	130648351	130648351	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:130648351C>T	uc001uii.3	+	0	1348	c.864C>T	c.(862-864)atC>atT	p.I288I	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	288					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGAGAGCATCGCCTGCGACC	0.642000														36			46		0	0	0.00361006	0	0
INADL	10207	broad.mit.edu	37	1	62330101	62330101	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:62330101G>C	uc001dab.3	+	19	2745	c.2631G>C	c.(2629-2631)gaG>gaC	p.E877D	INADL_uc009waf.1_Missense_Mutation_p.E877D|INADL_uc001daa.2_Missense_Mutation_p.E877D|INADL_uc001dad.3_Missense_Mutation_p.E574D|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	877					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGAATATGAGTTATATCAAG	0.438000														75			21		0	0	0.00229938	0	0
PCLO	27445	broad.mit.edu	37	7	82579186	82579186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82579186G>A	uc003uhx.2	-	5	11007	c.10718C>T	c.(10717-10719)tCa>tTa	p.S3573L	PCLO_uc003uhv.2_Missense_Mutation_p.S3573L|PCLO_uc010lec.3_Missense_Mutation_p.S538L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3504					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTGTGTCTGAATCTGCTTC	0.453000														69			57		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9090497	9090497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9090497G>A	uc002mkp.3	-	0	1522	c.1318C>T	c.(1318-1320)Ctt>Ttt	p.L440F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	440	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						GAGGTCTCAAGTGGAGTCATA	0.473000														49			80		0	0	0.00361006	0	0
ZP1	22917	broad.mit.edu	37	11	60635174	60635174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:60635174G>A	uc001nqd.3	+	0	160	c.140G>A	c.(139-141)gGa>gAa	p.G47E	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	47					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGATCAAGGGAATGCAGCTG	0.682000														9			20		0	0	0.00188189	0	0
AK5	26289	broad.mit.edu	37	1	77763292	77763292	+	Missense_Mutation	SNP	G	A	A	rs141828356		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:77763292G>A	uc001dhn.3	+	3	801	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	AK5_uc001dho.3_Missense_Mutation_p.R129Q|AK5_uc001dhm.2_Missense_Mutation_p.R131Q	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	155					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATTGCAGAACGATATGGATTC	0.383000														66			11		0	0	0.00136819	0	0
OGDHL	55753	broad.mit.edu	37	10	50952113	50952113	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:50952113G>A	uc009xog.3	-	12	1903	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	OGDHL_uc001jie.3_Silent_p.I596I|OGDHL_uc010qgt.2_Silent_p.I539I|OGDHL_uc010qgu.2_Silent_p.I387I|OGDHL_uc009xoh.2_Silent_p.I387I	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	596			S -> C (in dbSNP:rs34877195).		glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGTCCTCAGGGATCCCCGTGG	0.597000														15			25		0	0	0.00395357	0	0
NGEF	25791	broad.mit.edu	37	2	233839559	233839559	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:233839559C>T	uc002vts.2	-	1	290	c.42G>A	c.(40-42)agG>agA	p.R14R		NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	14	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTGCTGATTTCCTCCGGGTCT	0.458000														60			55		0	0	0.00361006	0	0
ZNF334	55713	broad.mit.edu	37	20	45130722	45130722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:45130722G>A	uc002xsa.3	-	3	1787	c.1325C>T	c.(1324-1326)gCc>gTc	p.A442V	ZNF334_uc002xsb.3_Missense_Mutation_p.A381V|ZNF334_uc002xsd.3_Missense_Mutation_p.A381V|ZNF334_uc002xsc.3_Missense_Mutation_p.A419V|ZNF334_uc010ghl.3_Missense_Mutation_p.A418V			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACATTGAGGGCAGATTGACA	0.423000														129			57		0	0	0.00361006	0	0
EHD1	10938	broad.mit.edu	37	11	64622318	64622318	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64622318C>T	uc010rnq.1	-	5	1181	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	EHD1_uc021qkz.1_Silent_p.Q47Q|EHD1_uc001obu.1_Silent_p.Q364Q|EHD1_uc001obv.1_Silent_p.Q364Q	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	364					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGTCCTGGGTCTGCAGGAGTT	0.627000														155			60		0	0	0.00361006	0	0
TRIM56	81844	broad.mit.edu	37	7	100732634	100732634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100732634C>T	uc003uxq.3	+	2	2272	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.P681S	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	681					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGCTGCCAGCCGGGCTCCGT	0.587000														33			91		0	0	0.00361006	0	0
ATXN1	6310	broad.mit.edu	37	6	16326638	16326638	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:16326638T>C	uc003nbt.3	-	7	2875	c.1904A>G	c.(1903-1905)gAg>gGg	p.E635G	ATXN1_uc010jpi.3_Missense_Mutation_p.E635G|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	635	AXH.|Interaction with USP7.|RNA-binding.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCTCGGTGCTCCCCGACGGC	0.577000														51			27		0	0	0.00209593	0	0
abParts	0	broad.mit.edu	37	14	106641620	106641620	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106641620G>A	uc021ser.1	-	1493		c.29765C>T								Parts of antibodies, mostly variable regions.																		GCTCCATGTAGGCTGTGCTCG	0.527000														147			45		0	0	0.00361006	0	0
TRPM2	7226	broad.mit.edu	37	21	45786723	45786723	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:45786723G>A	uc010gpt.1	+	3	610	c.510G>A	c.(508-510)ttG>ttA	p.L170L	TRPM2_uc002zet.1_Silent_p.L170L|TRPM2_uc002zeu.1_Silent_p.L170L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.L170L|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	170						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCAATCTCTTGATCTCGGTGA	0.602000														44			33		0	0	0.00375469	0	0
SGK223	157285	broad.mit.edu	37	8	8176519	8176519	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:8176519G>A	uc003wsh.4	-	4	3366	c.3366C>T	c.(3364-3366)ttC>ttT	p.F1122F		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1122	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GCAGAAGCAGGAAGCACACGC	0.672000														62			78		0	0	0.00361006	0	0
C4B	721	broad.mit.edu	37	6	31996295	31996295	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31996295G>A	uc011dpd.2	+	24	3267	c.3216G>A	c.(3214-3216)cgG>cgA	p.R1072R	C4B_uc011dpe.2_Silent_p.R1072R	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1072					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGTTGTCACGGGGCAGCAGCA	0.627000														38			38		0	0	0.00285205	0	0
C17orf47	284083	broad.mit.edu	37	17	56620146	56620146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56620146G>A	uc002iwq.2	-	0	1588	c.1402C>T	c.(1402-1404)Cct>Tct	p.P468S	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	468										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACAGAAAGGGCTAGAGTCT	0.478000														178			74		0	0	0.00361006	0	0
COL6A3	1293	broad.mit.edu	37	2	238275834	238275834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:238275834C>T	uc002vwl.2	-	10	5281	c.4996G>A	c.(4996-4998)Gtg>Atg	p.V1666M	COL6A3_uc002vwo.2_Missense_Mutation_p.V1460M|COL6A3_uc010znj.1_Missense_Mutation_p.V1059M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1666	Nonhelical region.|VWFA 9.				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)		ACTGTGTCCACTATTTCAGAC	0.463000														26			9		0	0	0.000673444	0	0
FBN3	84467	broad.mit.edu	37	19	8154839	8154839	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:8154839G>A	uc002mjf.3	-	48	6206	c.6189C>T	c.(6187-6189)gcC>gcT	p.A2063A	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2063	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A2062T(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCTCCTGAAAGGCAGCTGGAC	0.637000														22			6		0	0	0.00116845	0	0
PITX2	5308	broad.mit.edu	37	4	111539383	111539383	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:111539383C>T	uc003iaf.3	-	6	2675	c.852G>A	c.(850-852)ctG>ctA	p.L284L	PITX2_uc003iac.3_Silent_p.L291L|PITX2_uc003iad.3_Silent_p.L284L|PITX2_uc021xqr.1_Silent_p.L284L|PITX2_uc003iae.3_Silent_p.L238L|PITX2_uc021xqs.1_Silent_p.L238L	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	284					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T283M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTTTCAGTCTCAGGCTGGCCA	0.622000														19			16		0	0	0.00316338	0	0
ABCC6	368	broad.mit.edu	37	16	16284023	16284023	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:16284023G>A	uc002den.4	-	11	1670	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.L557L	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	545	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GACGTCACCAGAAATGTAGAC	0.632000														31			19		0	0	0.00229938	0	0
CCNY	219771	broad.mit.edu	37	10	35857996	35857996	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:35857996C>T	uc001iyw.4	+	9	1104	c.924C>T	c.(922-924)ctC>ctT	p.L308L	CCNY_uc001iyu.4_Silent_p.L254L|CCNY_uc001iyv.4_Silent_p.L254L|CCNY_uc001iyx.4_Silent_p.L254L|CCNY_uc009xmb.3_Silent_p.L283L|CCNY_uc010qet.2_Silent_p.L175L	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	308					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TCTCTCGCCTCTGCGAGGACA	0.612000														13			21		0	0	0.00121646	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995998	140995998	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140995998G>A	uc004fbt.3	+	3	3132	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_uc010nsl.2_Silent_p.T3T|MAGEC1_uc022cfi.1_Silent_p.T595T	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	936	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCTGACGAATGTCATCA	0.468000										HNSCC(15;0.026)				12			60		0	0	0.00361006	0	0
TMCO7	79613	broad.mit.edu	37	16	68934380	68934380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:68934380C>T	uc002ewi.4	+	7	1433	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	474						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TTGATGGATTCCCTGCTTCCA	0.428000														41			82		0	0	0.00361006	0	0
NRXN2	9379	broad.mit.edu	37	11	64428249	64428249	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64428249A>T	uc021qkw.1	-	9	2623	c.2161T>A	c.(2161-2163)Ttt>Att	p.F721I	NRXN2_uc021qkx.1_Missense_Mutation_p.F690I|NRXN2_uc001oas.3_Missense_Mutation_p.F690I|NRXN2_uc001oaq.3_Missense_Mutation_p.F388I	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	721	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCCCAAGAAAGCCGGTCCCG	0.602000														50			13		0	0	0.00244969	0	0
MUC16	94025	broad.mit.edu	37	19	9086175	9086175	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9086175A>T	uc002mkp.3	-	0	5844	c.5640T>A	c.(5638-5640)gaT>gaA	p.D1880E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1880	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						TAGAAGAGGTATCAGAGCCGT	0.502000														12			22		0	0	0.00278032	0	0
NBPF14	25832	broad.mit.edu	37	1	148009508	148009509	+	Missense_Mutation	DNP	CC	AA	AA	rs143363070	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:148009508_148009509CC>AA	uc001eqq.3	-	15	1830_1831	c.1798_1799GG>TT	c.(1798-1800)ggg>TTg	p.G600L	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Missense_Mutation_p.G581L|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc010pad.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	600	NBPF 7.					cytoplasm		p.G600R(2)|p.S599S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CAACAGCTCCCCGCTGAGCCTG	0.465000														511			12		0	0	6.4e-05	0	0
CCDC113	29070	broad.mit.edu	37	16	58287928	58287928	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:58287928C>T	uc002ene.3	+	2	334	c.255C>T	c.(253-255)tcC>tcT	p.S85S	CCDC113_uc010vid.2_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	85						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GATCCAAATCCCGGACAGGTA	0.488000														31			33		0	0	0.000953801	0	0
CHST9	83539	broad.mit.edu	37	18	24496436	24496436	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:24496436C>T	uc002kwd.3	-	4	1348	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Silent_p.L373L|CHST9_uc021uij.1_Silent_p.L288L	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	373					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CATCTTCTTCCAAAGTCTCAA	0.423000														63			41		0	0	0.00195071	0	0
TPTE2	93492	broad.mit.edu	37	13	20025334	20025334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:20025334C>T	uc001umd.3	-	11	984	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R147Q|TPTE2_uc001ume.3_Missense_Mutation_p.R181Q|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	258	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R181Q(2)|p.L258L(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAGTGGTTTCGATGTTTCTT	0.363000														22			25		0	0	0.001512	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911275	230911275	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:230911275C>T	uc002vqd.2	-	3	1026	c.567G>A	c.(565-567)agG>agA	p.R189R	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.R189R|SLC16A14_uc002vqf.3_Silent_p.R189R	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	189						integral to membrane|plasma membrane	symporter activity	p.R189G(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACATGGCATTCCTCCAGCCGT	0.592000														70			49		0	0	0.00361006	0	0
RABEP2	79874	broad.mit.edu	37	16	28925884	28925884	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:28925884G>A	uc002drq.3	-	4	615	c.567C>T	c.(565-567)tcC>tcT	p.S189S	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Silent_p.S118S|RABEP2_uc010byn.3_Silent_p.S189S|RABEP2_uc002drr.3_Silent_p.S189S	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	189					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGCCGTGCAGGGAAGGGGCAT	0.721000														9			10		0	0	0.00136819	0	0
CNTN1	1272	broad.mit.edu	37	12	41463829	41463829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:41463829G>A	uc001rmm.1	+	23	3162	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CNTN1_uc001rmn.1_Missense_Mutation_p.E1006K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	1017					Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTCTACTTGGAATTCTGAAT	0.498000														28			31		0	0	0.00128727	0	0
SLC28A2	9153	broad.mit.edu	37	15	45559976	45559976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:45559976G>A	uc001zva.2	+	11	1246	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	394					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGTGAGGAGGGGGTAAAGCTG	0.547000														113			78		0	0	0.00361006	0	0
PTCH2	8643	broad.mit.edu	37	1	45288151	45288151	+	Nonsense_Mutation	SNP	C	T	T	rs56024410		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:45288151C>T	uc010olf.2	-	21	3560	c.3548G>A	c.(3547-3549)tGg>tAg	p.W1183*	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Nonsense_Mutation_p.W881*	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1183					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCAGGGGACCAAGGGGGCTC	0.632000									Basal Cell Nevus syndrome					52			12		0	0	0.000978159	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811014	65811014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65811014G>A	uc001ogv.3	-	1	420	c.260C>T	c.(259-261)gCc>gTc	p.A87V	GAL3ST3_uc001ogw.3_Missense_Mutation_p.A87V	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	87					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GTGGCGCTCGGCAAAGCGAAA	0.657000														24			9		0	0	0.000274275	0	0
BTN1A1	696	broad.mit.edu	37	6	26505394	26505394	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:26505394C>T	uc003nif.4	+	2	726	c.669C>T	c.(667-669)ctC>ctT	p.L223L		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	223	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCCAGAATCTCCTTCTTGGCC	0.463000														66			41		0	0	0.00285205	0	0
CD163L1	283316	broad.mit.edu	37	12	7586219	7586219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7586219G>A	uc010sge.2	-	2	222	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	CD163L1_uc001qsy.3_Nonsense_Mutation_p.Q66*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	66	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTGTCCCTGGAATTTCACC	0.493000														73			28		0	0	0.00209593	0	0
ZMYM1	79830	broad.mit.edu	37	1	35563145	35563145	+	Silent	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:35563145A>C	uc001bym.3	+	3	543	c.397A>C	c.(397-399)Aga>Cga	p.R133R	ZMYM1_uc001byl.1_Silent_p.R133R|ZMYM1_uc009vus.1_Non-coding_Transcript|ZMYM1_uc001byn.3_Silent_p.R133R|ZMYM1_uc010ohu.2_Silent_p.R133R|ZMYM1_uc001byo.3_5'UTR|ZMYM1_uc009vut.3_Silent_p.R58R	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	133						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCTTCTAAGAGAACTTGTTC	0.368000														90			16		0	0	0.000422831	0	0
FITM1	161247	broad.mit.edu	37	14	24601566	24601566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:24601566C>T	uc001wmf.2	+	1	511	c.413C>T	c.(412-414)gCc>gTc	p.A138V		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	138					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TGGCGGGGAGCCGGCCGGGCC	0.672000														47			18		0	0	0.000958276	0	0
HTT	3064	broad.mit.edu	37	4	3189409	3189409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:3189409C>T	uc021xkv.1	+	38	5166	c.5021C>T	c.(5020-5022)tCg>tTg	p.S1674L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1674					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGTGGATATCGGGAATTCTG	0.403000														61			45		0	0	0.00361006	0	0
OGDH	4967	broad.mit.edu	37	7	44714019	44714019	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:44714019G>A	uc003tln.3	+	6	957	c.798G>A	c.(796-798)gaG>gaA	p.E266E	OGDH_uc003tlm.3_Silent_p.E266E|OGDH_uc011kbx.2_Silent_p.E262E|OGDH_uc011kby.2_Silent_p.E116E|OGDH_uc003tlp.3_Silent_p.E277E|OGDH_uc011kbz.2_Silent_p.E61E|OGDH_uc003tlo.1_Silent_p.E99E	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	266					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GGTTTGAGGAGTTCCTACAGC	0.537000														51			54		0	0	0.00361006	0	0
OR52K1	390036	broad.mit.edu	37	11	4510609	4510609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:4510609C>T	uc001lza.2	+	0	501	c.479C>T	c.(478-480)cCa>cTa	p.P160L		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTAATGACTCCACTCCCCTTC	0.587000														24			20		0	0	0.00152264	0	0
DPY19L4	286148	broad.mit.edu	37	8	95778881	95778881	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:95778881C>T	uc003ygx.2	+	10	1267	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	381						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGCTGAAATTCCTTGAAGTAA	0.303000														214			186		0	0	0.00361006	0	0
FLJ43860	389690	broad.mit.edu	37	8	142505528	142505528	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:142505528C>T	uc003ywi.2	-	2	399	c.318G>A	c.(316-318)aaG>aaA	p.K106K	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	106							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGATGATGTACTTCAAGTGGA	0.522000														87			49		0	0	0.00361006	0	0
ZNF334	55713	broad.mit.edu	37	20	45130524	45130524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:45130524C>T	uc002xsa.3	-	3	1985	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	ZNF334_uc002xsb.3_Missense_Mutation_p.G447E|ZNF334_uc002xsd.3_Missense_Mutation_p.G447E|ZNF334_uc002xsc.3_Missense_Mutation_p.G485E|ZNF334_uc010ghl.3_Missense_Mutation_p.G484E			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGTTTCTCTCCTGTGTGTGT	0.363000														158			41		0	0	0.00170553	0	0
PCLO	27445	broad.mit.edu	37	7	82476562	82476562	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82476562C>T	uc003uhx.2	-	11	13944	c.13655_splice	c.e11-1	p.G4552_splice	PCLO_uc003uhv.2_Splice_Site_p.G4552_splice|PCLO_uc003uht.1_Splice_Site_p.G3_splice|PCLO_uc003uhu.1_Splice_Site	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATACTTGCATCCCTAGAAAGA	0.353000														6			20		0	0	0.00188189	0	0
CSF1R	1436	broad.mit.edu	37	5	149435634	149435634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:149435634C>T	uc003lrl.3	-	17	2704	c.2509G>A	c.(2509-2511)Gac>Aac	p.D837N	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.D837N	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	837	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GACCAGACGTCGCTCTGAACC	0.612000														33			10		0	0	0.000442599	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288190	132288190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:132288190C>T	uc002tta.3	+	2	386	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Missense_Mutation_p.P112S|CCDC74A_uc021vpr.1_Missense_Mutation_p.P154S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	112										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGCCTCTGCTCCCTTGGGCGC	0.642000														29			18		0	0	0.00178596	0	0
RBM34	23029	broad.mit.edu	37	1	235316029	235316029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:235316029G>A	uc001hwn.3	-	4	880	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	RBM34_uc001hwo.3_Non-coding_Transcript|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_Missense_Mutation_p.R217C	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	217	RRM 1.					nucleolus	RNA binding|nucleotide binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ACCAGAGAACGAAATCGTACA	0.299000														32			43		0	0	0.00361006	0	0
SPG11	80208	broad.mit.edu	37	15	44865754	44865754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:44865754G>A	uc001ztx.3	-	31	6227	c.6196C>T	c.(6196-6198)Cag>Tag	p.Q2066*	SPG11_uc010bdw.3_Intron|SPG11_uc010ueh.2_Intron|SPG11_uc010uei.2_Nonsense_Mutation_p.Q2066*|SPG11_uc001zty.1_Nonsense_Mutation_p.Q795*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2066					cell death	cytosol|integral to membrane|nucleus	protein binding	p.S2065P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTGTTCCCTGTGATGAAGTA	0.527000														22			22		0	0	0.00188189	0	0
KCTD16	57528	broad.mit.edu	37	5	143853416	143853416	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:143853416G>A	uc003lnm.1	+	3	1655	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	KCTD16_uc003lnn.1_Silent_p.L342L	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	342						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCCAGACTCTGGACCGTCCCA	0.587000														48			23		0	0	0.000720815	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325570	150325570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:150325570C>T	uc022apv.1	-	2	806	c.326G>A	c.(325-327)aGg>aAg	p.R109K	GIMAP6_uc003whn.3_Missense_Mutation_p.R39K|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	39							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCAGTCTCCTTGGGGTCTT	0.517000														28			69		0	0	0.00361006	0	0
MYH1	4619	broad.mit.edu	37	17	10408556	10408556	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:10408556G>A	uc002gmo.3	-	20	2453	c.2359C>T	c.(2359-2361)Cag>Tag	p.Q787*	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	787	IQ.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTAATCAGCTGGGCCAGCTTC	0.438000														4			80		0	0	0.00361006	0	0
MPZ	4359	broad.mit.edu	37	1	161275690	161275690	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:161275690C>T	uc001gaf.4	-	5	790	c.723G>A	c.(721-723)ggG>ggA	p.G241G		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	241					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCGAGACTCCCCCAGCCCCT	0.607000														31			53		0	0	0.00361006	0	0
SLC16A7	9194	broad.mit.edu	37	12	60165124	60165124	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:60165124C>T	uc001sqs.3	+	3	641	c.342C>T	c.(340-342)ctC>ctT	p.L114L	SLC16A7_uc001sqt.3_Silent_p.L114L|SLC16A7_uc001squ.3_Silent_p.L114L|SLC16A7_uc009zqi.3_Silent_p.L15L|SLC16A7_uc010ssi.2_Silent_p.L15L	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	114						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.Y113fs*28(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AGCTGTACCTCACTATGGGAT	0.423000														112			34		0	0	0.00111076	0	0
CDKAL1	54901	broad.mit.edu	37	6	20546711	20546711	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:20546711C>A	uc003ndd.2	+	2	297	c.130C>A	c.(130-132)Caa>Aaa	p.Q44K	CDKAL1_uc003nde.2_Silent_p.P11P|CDKAL1_uc021ymk.1_Missense_Mutation_p.Q44K|CDKAL1_uc010jpo.1_Missense_Mutation_p.Q44K|CDKAL1_uc003ndb.1_Missense_Mutation_p.Q44K	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	44					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.Q44K(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GCGAAATACCCAAAAATATTT	0.368000														387			13		1.15088e-07	3.3411e-07	0.000422831	1	0
HHLA2	11148	broad.mit.edu	37	3	108072538	108072538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108072538G>A	uc003dwz.3	+	3	743	c.329G>A	c.(328-330)aGa>aAa	p.R110K	HHLA2_uc011bhl.2_Missense_Mutation_p.R46K|HHLA2_uc010hpu.3_Missense_Mutation_p.R110K|HHLA2_uc003dwy.4_Missense_Mutation_p.R110K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	110	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTTTTCAGAAGAGTAAGCCTT	0.423000														35			39		0	0	0.00222228	0	0
C8B	732	broad.mit.edu	37	1	57425832	57425832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:57425832G>A	uc001cyp.3	-	1	177	c.110C>T	c.(109-111)tCc>tTc	p.S37F	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	37					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGACCCAAAGGAATGTGGCCT	0.418000														78			17		0	0	0.00074312	0	0
OR5B12	390191	broad.mit.edu	37	11	58206865	58206865	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:58206865T>A	uc010rkh.2	-	0	782	c.760A>T	c.(760-762)Atc>Ttc	p.I254F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253R(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATAAAGATTCCTGTCCCA	0.453000														15			27		0	0	0.001512	0	0
KCNA3	3738	broad.mit.edu	37	1	111216889	111216889	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:111216889G>A	uc001dzv.1	-	0	767	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	181						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATCTCCTCGGAGAAAATGT	0.667000														108			24		0	0	0.000878237	0	0
EEFSEC	60678	broad.mit.edu	37	3	127980974	127980974	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:127980974C>T	uc003eki.3	+	2	566	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	176						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ATTTCAGGTTCCGAGGTGCAC	0.542000														95			63		0	0	0.00361006	0	0
CBLN2	147381	broad.mit.edu	37	18	70205419	70205419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:70205419G>A	uc002lku.2	-	3	902	c.667C>T	c.(667-669)Cct>Tct	p.P223S	CBLN2_uc002lkv.2_Missense_Mutation_p.P223S	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	223	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTTTATAGAGGAAACACCAAG	0.507000														27			16		0	0	0.000566183	0	0
VWA2	340706	broad.mit.edu	37	10	116049157	116049157	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:116049157G>A	uc001lbl.1	+	11	2352	c.2031G>A	c.(2029-2031)agG>agA	p.R677R	VWA2_uc001lbk.1_Silent_p.R677R|VWA2_uc009xyf.1_Silent_p.R373R	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	677	VWFA 3.					extracellular region		p.L675_R676insGGL(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GTCTGCGGAGGCTTGCAGGTC	0.627000														4			31		0	0	0.000814825	0	0
SPANXC	64663	broad.mit.edu	37	X	140336564	140336564	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140336564C>T	uc004fbk.3	-	0	83	c.27G>A	c.(25-27)ggG>ggA	p.G9G	SPANXC_uc004fbl.3_Intron	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	9						cytoplasm|nucleus		p.G8S(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCCTCTTCACCCCGCCGGCAC	0.493000														10			54		0	0	0.00361006	0	0
PXDN	7837	broad.mit.edu	37	2	1652195	1652195	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1652195C>T	uc002qxa.3	-	16	3421	c.3357G>A	c.(3355-3357)agG>agA	p.R1119R		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1119					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGAACAGCCCCCTGAGAAGCG	0.597000														25			13		0	0	0.00185496	0	0
SVEP1	79987	broad.mit.edu	37	9	113169739	113169739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:113169739G>A	uc010mtz.3	-	37	8478	c.8141C>T	c.(8140-8142)tCa>tTa	p.S2714L	SVEP1_uc010mty.3_Missense_Mutation_p.S640L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2714	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACATTCAATTGAAATGCAGGA	0.463000														12			80		0	0	0.00361006	0	0
OR2M3	127062	broad.mit.edu	37	1	248366863	248366863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:248366863C>T	uc010pzg.2	+	0	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S165S(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAACATTTTCCTTCTCCTAC	0.433000														61			90		0	0	0.00361006	0	0
CXorf21	80231	broad.mit.edu	37	X	30578385	30578385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:30578385C>T	uc022bui.1	-	0	88	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	CXorf21_uc004dcg.2_Missense_Mutation_p.E30K	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	30										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TCTTCCTTTTCCCCAGCCACC	0.458000														0			26		0	0	0.00332997	0	0
TLR5	7100	broad.mit.edu	37	1	223283826	223283826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:223283826G>A	uc021pjl.1	-	0	2548	c.2548C>T	c.(2548-2550)Ccg>Tcg	p.P850S	TLR5_uc001hnv.2_Missense_Mutation_p.P850S|TLR5_uc001hnw.2_Missense_Mutation_p.P850S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	850			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GTTTGCAACGGAATGTTATTG	0.378000														76			24		0	0	0.00178596	0	0
FAT4	79633	broad.mit.edu	37	4	126412574	126412574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:126412574G>A	uc003ifj.4	+	16	14597	c.14597G>A	c.(14596-14598)aGa>aAa	p.R4866K	FAT4_uc011cgp.2_Missense_Mutation_p.R3107K|FAT4_uc003ifi.1_Missense_Mutation_p.R2343K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4866					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G4865W(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATACTTCCAGAATGCCCAAA	0.448000														19			19		0	0	0.000958276	0	0
CSMD1	64478	broad.mit.edu	37	8	3165994	3165994	+	Silent	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:3165994G>T	uc022aqr.1	-	23	4053	c.3663C>A	c.(3661-3663)ggC>ggA	p.G1221G	CSMD1_uc011kwj.2_Silent_p.G614G|CSMD1_uc003wqe.3_Silent_p.G378G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1222	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTTAGGGATGCCCGGATCCT	0.483000														13			4		1.024e-07	2.97404e-07	0.000602214	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186880420	186880420	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:186880420C>T	uc001gsc.3	+	6	662	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	PLA2G4A_uc010pos.2_Intron	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	153	PLA2c.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TCTGTGTGATCAGGAGAAGAC	0.448000														46			55		0	0	0.00361006	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051318	38051318	+	Missense_Mutation	SNP	C	T	T	rs150670938		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:38051318C>T	uc003gtb.3	+	10	2067	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	TBC1D1_uc011byd.2_Missense_Mutation_p.S570F|TBC1D1_uc010ifd.3_Missense_Mutation_p.S317F|TBC1D1_uc011byf.1_Missense_Mutation_p.S441F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	570						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GAGGACCTGTCCAGTGACTCG	0.592000														34			26		0	0	0.000878237	0	0
F2RL1	2150	broad.mit.edu	37	5	76128963	76128963	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:76128963C>T	uc003keo.3	+	1	706	c.531C>T	c.(529-531)atC>atT	p.I177I		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	177					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ATTGGGTCATCGTGAACCCCA	0.483000														352			255		0	0	0.00361006	0	0
ASTN1	460	broad.mit.edu	37	1	176926840	176926840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176926840G>A	uc001glc.3	-	10	2073	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C	ASTN1_uc001glb.1_Missense_Mutation_p.R621C|ASTN1_uc001gld.1_Missense_Mutation_p.R621C|ASTN1_uc009wwx.1_Missense_Mutation_p.R621C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	629	EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGCTTGCGATCTGAAATA	0.537000														16			31		0	0	0.00327116	0	0
PIDD	55367	broad.mit.edu	37	11	804257	804258	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:804257_804258GG>AA	uc001lro.2	-	1	278_279	c.131_132CC>TT	c.(130-132)ccc>cTT	p.P44L	PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_5'UTR|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_5'UTR|PIDD_uc001lrk.2_Missense_Mutation_p.P44L|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	44					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GGCAGCCCCCGGGGTACAGGTC	0.653000														14			4		0	0	6.4e-05	0	0
CCDC146	57639	broad.mit.edu	37	7	76924180	76924180	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:76924180C>T	uc003uga.3	+	18	2992	c.2865C>T	c.(2863-2865)atC>atT	p.I955I	CCDC146_uc010ldp.3_Silent_p.I669I|CCDC146_uc003ugc.3_Silent_p.I292I	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	955										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CAGTTGAAATCTGAATATGTG	0.403000														27			12		0	0	0.00185496	0	0
ARSF	416	broad.mit.edu	37	X	3030285	3030285	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:3030285C>T	uc022brz.1	+	10	1597	c.1461C>T	c.(1459-1461)gtC>gtT	p.V487V	ARSF_uc004cre.2_Silent_p.V487V|ARSF_uc004crf.2_Silent_p.V487V	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	487						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTGCTATGTCACCTCATTAT	0.542000														3			43		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9069614	9069614	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9069614G>A	uc002mkp.3	-	2	18036	c.17832C>T	c.(17830-17832)tcC>tcT	p.S5944S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5946	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						CTGATACTGCGGAATAAAGAG	0.512000														20			45		0	0	0.0025221	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481149	142481149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142481149G>A	uc011ksq.2	+	2	306	c.223G>A	c.(223-225)Gag>Aag	p.E75K	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		GAGACTGGGAGAGCACAATAT	0.532000														0			9		0	0	0.000274275	0	0
TDRD5	163589	broad.mit.edu	37	1	179562978	179562978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:179562978G>A	uc010pnp.2	+	2	1134	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	TDRD5_uc021pfm.1_Missense_Mutation_p.E206K|TDRD5_uc001gnf.2_Missense_Mutation_p.E206K|TDRD5_uc021pfn.1_Missense_Mutation_p.E206K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	206	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTAACAGAGGAAAAGCCGAG	0.453000														36			12		0	0	0.00185496	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284611	52284611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52284611C>T	uc001rzd.3	+	4	1059	c.881C>T	c.(880-882)cCc>cTc	p.P294L	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.P169L|ANKRD33_uc001rze.3_Missense_Mutation_p.P190L|ANKRD33_uc001rzg.4_Missense_Mutation_p.P96L|ANKRD33_uc001rzi.4_Missense_Mutation_p.P169L	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	169										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TTGAGCCTCCCCTTTGCCCCG	0.672000														9			10		0	0	0.000673444	0	0
SLC45A3	85414	broad.mit.edu	37	1	205592869	205592869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:205592869G>A	uc001hcy.2	-	1	1392	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.R48C|SLC45A3_uc010prn.1_Missense_Mutation_p.R137C|SLC45A3_uc010pro.1_Missense_Mutation_p.R321C|SLC45A3_uc010prp.1_Non-coding_Transcript|SLC45A3_uc010prq.1_Non-coding_Transcript	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTGTTCTTGCGAATCCCCCAG	0.448000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									68			102		0	0	0.00361006	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715116	65715116	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65715116A>T	uc001ogk.1	+	3	849	c.817A>T	c.(817-819)Aag>Tag	p.K273*	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	274										endometrium(2)|kidney(3)|lung(9)	14						TTGTCAGAGAAAGGGGCAGAT	0.597000														9			15		0	0	0.00316338	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030123	95030123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95030123C>T	uc010avd.3	+	1	689	c.415C>T	c.(415-417)Ctt>Ttt	p.L139F	SERPINA4_uc001ydk.3_Missense_Mutation_p.L102F|SERPINA4_uc001ydl.3_Missense_Mutation_p.L102F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	102					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R138G(1)		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)		CAGCCAGATCCTTGAGGGCCT	0.632000														33			13		0	0	0.00185496	0	0
ASTN1	460	broad.mit.edu	37	1	177030324	177030324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:177030324G>A	uc001glc.3	-	1	573	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	ASTN1_uc001glb.1_Missense_Mutation_p.H121Y|ASTN1_uc001gld.1_Missense_Mutation_p.H121Y|ASTN1_uc009wwx.1_Missense_Mutation_p.H121Y	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	121					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATGAATGTGAAAAAGCAAA	0.522000														129			43		0	0	0.00321405	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939636	12939636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:12939636C>T	uc001aun.2	-	3	1237	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	389										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGGATTTCCACAGAAGCT	0.522000														29			222		0	0	0.00361006	0	0
SCAND3	114821	broad.mit.edu	37	6	28542663	28542663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28542663C>T	uc003nlo.3	-	2	2437	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	607					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						CATTCTTTTTCACAAACTACA	0.418000														26			28		0	0	0.00127121	0	0
CENPF	1063	broad.mit.edu	37	1	214816005	214816005	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:214816005T>A	uc001hkm.3	+	11	4498	c.4324T>A	c.(4324-4326)Tta>Ata	p.L1442I		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1538	2 X 96 AA approximate tandem repeats.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTTGACTCATTAAAGGCCGA	0.423000														13			25		0	0	0.00395357	0	0
HERC2P9	440248	broad.mit.edu	37	15	28903845	28903845	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:28903845C>T	uc010azc.3	+	4		c.777C>T			HERC2P9_uc010uao.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		CGCTGTTCTCCCACCAGGATA	0.498000														32			43		0	0	0.00361006	0	0
TPH1	7166	broad.mit.edu	37	11	18062275	18062275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18062275G>A	uc001mnp.2	-	0	61	c.35C>T	c.(34-36)tCc>tTc	p.S12F	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	12					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CCTTTCTAAGGAATGGTCTTT	0.333000														36			7		0	0	0.00198382	0	0
NTRK3	4916	broad.mit.edu	37	15	88799275	88799275	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:88799275A>G	uc002bme.2	-	2	416	c.110T>C	c.(109-111)gTc>gCc	p.V37A	NTRK3_uc002bmh.2_Missense_Mutation_p.V37A|NTRK3_uc002bmf.2_Missense_Mutation_p.V37A|NTRK3_uc021sua.1_Missense_Mutation_p.V37A|NTRK3_uc010bnh.1_Missense_Mutation_p.V37A|NTRK3_uc002bmg.3_Missense_Mutation_p.V37A|LOC283738_uc021sub.1_Intron	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	37					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTGCTGCAGACACAATTTGC	0.572000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				107			11		0	0	0.00185496	0	0
FGFR1	2260	broad.mit.edu	37	8	38275752	38275752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:38275752C>T	uc022aua.1	-	9	2366	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.R506Q|FGFR1_uc011lbv.2_Missense_Mutation_p.R473Q|FGFR1_uc011lbw.2_Missense_Mutation_p.R386Q|FGFR1_uc003xlp.3_Missense_Mutation_p.R473Q|FGFR1_uc022aub.1_Missense_Mutation_p.R473Q|FGFR1_uc022auc.1_Missense_Mutation_p.R386Q|FGFR1_uc022aud.1_Missense_Mutation_p.R384Q|FGFR1_uc010lwk.3_Missense_Mutation_p.R465Q	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	475					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTACCTGTCCCGAGGCAGCTC	0.532000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							81			85		0	0	0.00361006	0	0
ART3	419	broad.mit.edu	37	4	77003040	77003040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:77003040G>A	uc003hjo.3	+	2	267	c.133G>A	c.(133-135)Gac>Aac	p.D45N	ART3_uc003hji.3_Missense_Mutation_p.D45N|ART3_uc003hjj.3_Missense_Mutation_p.D45N|ART3_uc003hjk.3_Missense_Mutation_p.D45N|ART3_uc010ija.2_Missense_Mutation_p.D45N|ART3_uc003hjn.3_Missense_Mutation_p.D45N|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.D15N|ART3_uc010ijc.3_Missense_Mutation_p.D15N|ART3_uc010ijd.3_Missense_Mutation_p.D15N	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	45					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAATGTACGGACAGGATGGA	0.388000														52			49		0	0	0.00361006	0	0
USP19	10869	broad.mit.edu	37	3	49154881	49154881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:49154881G>A	uc003cwd.2	-	4	914	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	USP19_uc003cwa.3_Missense_Mutation_p.P5S|USP19_uc003cwb.3_Missense_Mutation_p.P184S|USP19_uc003cvz.4_Missense_Mutation_p.P199S|USP19_uc011bcg.2_Intron|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.P199S|USP19_uc011bci.2_Missense_Mutation_p.P184S	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	199	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGAGGGAGGGCCACGTGAGC	0.522000														6			33		0	0	0.000814825	0	0
ZNF14	7561	broad.mit.edu	37	19	19823621	19823621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:19823621G>A	uc002nnk.1	-	3	623	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGTTTGCGAAAGCAGTGG	0.393000														42			17		0	0	0.000958276	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754309	140754309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140754309C>T	uc003ljy.2	+	0	659	c.659C>T	c.(658-660)cCt>cTt	p.P220L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P220L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	220	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGACCCTGTCCGCTCA	0.557000														12			6		0	0	0.00116845	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812687	16812687	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:16812687G>A	uc010rcu.1	-	19	2823	c.2808C>T	c.(2806-2808)ccC>ccT	p.P936P	PLEKHA7_uc001mmo.3_Silent_p.P935P|PLEKHA7_uc001mmm.3_Silent_p.P38P|PLEKHA7_uc010rcv.2_Silent_p.P510P|PLEKHA7_uc001mmn.3_Silent_p.P644P	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	935	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCACAGCCGGGGGCTGGTCCT	0.642000														32			14		0	0	0.00074312	0	0
RGNEF	64283	broad.mit.edu	37	5	72980679	72980679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:72980679G>A	uc010izf.3	+	1	179	c.3G>A	c.(1-3)atG>atA	p.M1I	RGNEF_uc011csq.2_Missense_Mutation_p.M1I|RGNEF_uc003kcy.1_Missense_Mutation_p.M1I|RGNEF_uc021yam.1_Missense_Mutation_p.M1I	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CGAAAGCCATGGAGTTGAGCT	0.483000														42			23		0	0	0.00278032	0	0
CACNA1D	776	broad.mit.edu	37	3	53760973	53760973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:53760973C>T	uc003dgv.4	+	14	2331	c.2168C>T	c.(2167-2169)tCt>tTt	p.S723F	CACNA1D_uc003dgu.4_Missense_Mutation_p.S743F|CACNA1D_uc003dgy.4_Missense_Mutation_p.S723F|CACNA1D_uc003dgw.4_Missense_Mutation_p.S390F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	723					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)	GGCCCATCCTCTTCAGGAATG	0.502000														17			105		0	0	0.00361006	0	0
SDHA	6389	broad.mit.edu	37	5	224491	224491	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:224491C>A	uc011clv.1	+	2	282	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	SDHA_uc003jao.4_Missense_Mutation_p.P56Q|SDHA_uc011clw.2_Missense_Mutation_p.P56Q	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	56					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCTCAGTATCCAGTAGTGGAT	0.453000									Familial Paragangliomas					295			13		0.00244969	0.00704821	0.00244969	1	0
NDUFB9	4715	broad.mit.edu	37	8	125551344	125551344	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:125551344C>T	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GCAACTCCGCCCTTCCGGCTG	0.662000														47			13		0	0	0.00185496	0	0
LRRC66	339977	broad.mit.edu	37	4	52883365	52883365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:52883365G>A	uc003gzi.3	-	0	422	c.415C>T	c.(415-417)Cac>Tac	p.H139Y		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	139						integral to membrane		p.R138H(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGCTTCTGTGGCGTTTCACC	0.428000														40			66		0	0	0.00361006	0	0
TCOF1	6949	broad.mit.edu	37	5	149754238	149754238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:149754238C>T	uc003lry.3	+	8	1250	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	TCOF1_uc003lrw.3_Missense_Mutation_p.S381F|TCOF1_uc003lrz.3_Missense_Mutation_p.S381F|TCOF1_uc011dch.2_Missense_Mutation_p.S381F|TCOF1_uc003lrx.3_Missense_Mutation_p.S304F|TCOF1_uc003lsa.3_Missense_Mutation_p.S304F|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	381					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAAGGAGTCCCCCAGGAAA	0.657000														38			14		0	0	0.00244969	0	0
SH3TC2	79628	broad.mit.edu	37	5	148422391	148422391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:148422391G>A	uc003lpu.3	-	4	547	c.395C>T	c.(394-396)tCc>tTc	p.S132F	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_5'Flank|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Intron|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.S17F	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	132							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGACACATGGATACGTAGCC	0.428000														19			24		0	0	0.00127121	0	0
NLRC5	84166	broad.mit.edu	37	16	57088686	57088686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:57088686C>T	uc021tiu.1	+	23	3657	c.3530C>T	c.(3529-3531)cCg>cTg	p.P1177L	NLRC5_uc021tiv.1_Missense_Mutation_p.P982L|NLRC5_uc021tiw.1_Missense_Mutation_p.P952L|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.P93L	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1177					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.P1177Q(2)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGACTGTCCCCGAAAAGCCCC	0.582000														82			108		0	0	0.00361006	0	0
SEC14L3	266629	broad.mit.edu	37	22	30867904	30867904	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:30867904C>T	uc003ahy.3	-	0	131	c.42G>A	c.(40-42)gaG>gaA	p.E14E	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_5'UTR|SEC14L3_uc003aib.3_5'UTR	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	14						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGGCCAGGGTCTCTGCCTGTT	0.627000														79			62		0	0	0.00361006	0	0
NCALD	83988	broad.mit.edu	37	8	102701627	102701627	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:102701627G>A	uc003yke.3	-	3	861	c.492C>T	c.(490-492)ctC>ctT	p.L164L	NCALD_uc003ykf.3_Silent_p.L164L|NCALD_uc003ykg.3_Silent_p.L164L|NCALD_uc003ykh.3_Silent_p.L164L|NCALD_uc003yki.3_Silent_p.L164L|NCALD_uc003ykj.3_Silent_p.L164L|NCALD_uc003ykk.3_Silent_p.L164L|NCALD_uc003ykl.3_Silent_p.L164L	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	164	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTTCCAGGGAGAGTTTTCCTA	0.607000														10			9		0	0	0.000274275	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816240	156816240	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:156816240G>C	uc021ygm.1	+	28	3386	c.3248G>C	c.(3247-3249)cGg>cCg	p.R1083P	CYFIP2_uc011ddn.2_Missense_Mutation_p.R1058P|CYFIP2_uc011ddo.2_Missense_Mutation_p.R888P|CYFIP2_uc021ygn.1_Missense_Mutation_p.R1083P|CYFIP2_uc021ygo.1_Missense_Mutation_p.R1083P|CYFIP2_uc003lwt.3_Missense_Mutation_p.R987P|CYFIP2_uc011ddp.2_Missense_Mutation_p.R818P	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1109					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)			ACCAAGGAGCGGCTGTGCTGT	0.607000														102			128		0	0	0.00361006	0	0
TPP2	7174	broad.mit.edu	37	13	103295587	103295587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:103295587C>T	uc001vpi.4	+	16	2139	c.2036C>T	c.(2035-2037)tCg>tTg	p.S679L		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	679					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGTGTGTTCGTGTTCTTCT	0.363000														43			19		0	0	0.00229938	0	0
BATF2	116071	broad.mit.edu	37	11	64756792	64756792	+	Nonsense_Mutation	SNP	C	T	T	rs139572037		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64756792C>T	uc021qlb.1	-	0	1195	c.654G>A	c.(652-654)tgG>tgA	p.W218*	BATF2_uc001oce.1_Missense_Mutation_p.E127K|BATF2_uc001ocf.1_Missense_Mutation_p.E212K	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA.	211						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GTGGGATGCTCCAGCTCGAGG	0.647000														21			20		0	0	0.000958276	0	0
TPD52	7163	broad.mit.edu	37	8	80962685	80962686	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:80962685_80962686GG>AA	uc022awn.1	-	4	849_850	c.527_528CC>TT	c.(526-528)tcc>tTT	p.S176F	TPD52_uc010lzr.3_Intron|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Missense_Mutation_p.S136F|TPD52_uc003ybt.1_Intron|TPD52_uc003ybq.1_Intron|TPD52_uc003ybr.1_Intron|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Intron|TPD52_uc022awp.1_Missense_Mutation_p.S176F	NM_001025253	NP_001020424	P55327	TPD52_HUMAN	Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.	169					B cell differentiation|anatomical structure morphogenesis|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTTACCTAAAGGAATGTGAAAA	0.351000														11			15		0	0	6.4e-05	0	0
JPH3	57338	broad.mit.edu	37	16	87678642	87678642	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:87678642G>A	uc002fkd.3	+	2	1414	c.1160_splice	c.e2+1	p.R387_splice	JPH3_uc010vou.1_Splice_Site	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	387	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGGCTTCCAGGTAGGAGGGCG	0.672000														7			10		0	0	0.00185496	0	0
TESK2	10420	broad.mit.edu	37	1	45810872	45810872	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:45810872G>A	uc001cns.1	-	10	1759	c.1356C>T	c.(1354-1356)cgC>cgT	p.R452R	TESK2_uc009vxr.1_Silent_p.R423R|TESK2_uc010olo.1_Silent_p.R369R|TESK2_uc009vxs.1_Silent_p.R244R	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	452					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AACGCCACCGGCGAATAGGTG	0.607000														23			68		0	0	0.00361006	0	0
RGL1	23179	broad.mit.edu	37	1	183857693	183857693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:183857693C>T	uc001gqm.3	+	8	1603	c.1142C>T	c.(1141-1143)aCt>aTt	p.T381I	RGL1_uc010pof.1_Missense_Mutation_p.T151I|RGL1_uc010pog.2_Missense_Mutation_p.T344I|RGL1_uc010poh.2_Missense_Mutation_p.T344I|RGL1_uc001gqo.3_Missense_Mutation_p.T346I|RGL1_uc010poi.2_Missense_Mutation_p.T346I	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	346	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTAAAAAAGACTTGGGCTGCC	0.468000														85			35		0	0	0.0024448	0	0
RBMX	27316	broad.mit.edu	37	X	135956521	135956521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:135956521C>T	uc004fae.2	-	8	1166	c.956G>A	c.(955-957)gGa>gAa	p.G319E	RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.2_Missense_Mutation_p.G280E|RBMX_uc004faf.2_Missense_Mutation_p.G180E	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	319						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCCACCATATCCGTCACGTGA	0.542000														66			19		0	0	0.00127121	0	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:29625891C>G	uc010ztl.1	+	1	77	c.45C>G	c.(43-45)ggC>ggG	p.G15G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.P15P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000														120			6		0	0	0.00198382	0	0
BVES	11149	broad.mit.edu	37	6	105563648	105563648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:105563648C>T	uc003pqw.3	-	6	1028	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	BVES_uc003pqx.3_Missense_Mutation_p.E291K|BVES_uc003pqy.3_Missense_Mutation_p.E291K	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	291					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTCCTCATTTCCAACATGGAG	0.463000														8			42		0	0	0.00170553	0	0
CNST	163882	broad.mit.edu	37	1	246810669	246810669	+	Missense_Mutation	SNP	C	T	T	rs149528217		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:246810669C>T	uc001ibp.3	+	8	1544	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	CNST_uc001ibo.4_Missense_Mutation_p.S389F	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	389					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGGCCAGACTCTTCTGAGGAT	0.592000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			118		0	0	0.00361006	0	0
ZNF831	128611	broad.mit.edu	37	20	57829282	57829283	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:57829282_57829283GG>AA	uc002yan.3	+	4	4518_4519	c.4518_4519GG>AA	c.(4516-4521)caggaa>caAAaa	p.E1507K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1507						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACATAGCCCAGGAAATTCACAG	0.515000														58			40		0	0	6.4e-05	0	0
PLXNA4	91584	broad.mit.edu	37	7	131817886	131817886	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:131817886G>A	uc003vra.4	-	30	5740	c.5511C>T	c.(5509-5511)tcC>tcT	p.S1837S	PLXNA4_uc003vqz.4_Silent_p.S122S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1837						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTGCATCCGGGACTGCTCAG	0.517000														92			26		0	0	0.000720815	0	0
SPN	6693	broad.mit.edu	37	16	29675227	29675227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:29675227G>A	uc021tgd.1	+	0	178	c.178G>A	c.(178-180)Gac>Aac	p.D60N	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.D60N|SPN_uc002dtn.3_Missense_Mutation_p.D60N	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	60					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAGCACTGGGGACCAGACCTC	0.552000														41			71		0	0	0.00361006	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95571	95571	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrGL000209.1:95571G>A	uc002quk.1	+	7	1012	c.957G>A	c.(955-957)aaG>aaA	p.K319K	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	319							receptor activity										AGAGGCCCAAGACACCTCCAA	0.488000														122			99		0	0	0.00361006	0	0
SOGA1	140710	broad.mit.edu	37	20	35444643	35444643	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:35444643T>G	uc021wcx.1	-	4	1542	c.1202A>C	c.(1201-1203)aAg>aCg	p.K401T	SOGA1_uc002xgd.1_Missense_Mutation_p.K163T	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	163										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTTAGTGAGCTTCTTGCACAT	0.567000														66			90		0	0	0.00361006	0	0
KCNRG	283518	broad.mit.edu	37	13	50589959	50589959	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:50589959G>A	uc001vdu.3	+	0	570	c.330G>A	c.(328-330)gtG>gtA	p.V110V	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Silent_p.V110V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	110						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CTGCTCTTGTGGAGGTACATT	0.438000														56			75		0	0	0.00361006	0	0
AGBL1	123624	broad.mit.edu	37	15	86807643	86807643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:86807643C>T	uc002blz.1	+	9	1183	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	AGBL1_uc002bma.1_Missense_Mutation_p.S99F|AGBL1_uc002bmb.1_Missense_Mutation_p.S62F	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	368					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTCCAGACTTCCCTTCTGTGC	0.493000														13			13		0	0	0.00316338	0	0
RAB27B	5874	broad.mit.edu	37	18	52556589	52556589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:52556589G>A	uc002lfr.3	+	5	845	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	201					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GTCAATGGTGGAAATTCTGGA	0.413000														28			23		0	0	0.00229938	0	0
ZBTB40	9923	broad.mit.edu	37	1	22828003	22828003	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:22828003G>C	uc001bft.2	+	4	1361	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	ZBTB40_uc001bfu.2_Missense_Mutation_p.E284Q|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'Flank	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	284					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F283F(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAAATGTTTCGAGGGTGAAGG	0.453000														36			10		0	0	0.000978159	0	0
OR10V1	390201	broad.mit.edu	37	11	59480591	59480591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:59480591G>A	uc001nof.1	-	0	728	c.728C>T	c.(727-729)tCt>tTt	p.S243F		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GATGTGAGAAGAGCAGGTAGA	0.527000														26			15		0	0	0.000422831	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262217	39262217	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:39262217A>G	uc010wfp.2	+	0	577	c.577A>G	c.(577-579)Acc>Gcc	p.T193A		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	193						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CTATCGCCCAACCTGTGTCAT	0.652000														5			3		0	0	0.000602214	0	0
TNS3	64759	broad.mit.edu	37	7	47408318	47408318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:47408318G>A	uc003tnw.3	-	16	2283	c.1925C>T	c.(1924-1926)gCt>gTt	p.A642V	TNS3_uc022acn.1_Missense_Mutation_p.A199V	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	642						focal adhesion	protein binding	p.V641L(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTCTGGACAGCCACCCTACT	0.657000														63			38		0	0	0.00111076	0	0
VOPP1	81552	broad.mit.edu	37	7	55560112	55560112	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:55560112C>T	uc003tqs.3	-	4	375	c.192_splice	c.e4-1	p.W64_splice	VOPP1_uc003tqq.3_Splice_Site_p.W55_splice|VOPP1_uc010kzh.3_Splice_Site_p.W61_splice|VOPP1_uc010kzi.3_Splice_Site_p.W47_splice|VOPP1_uc011kcr.2_Splice_Site	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						CAGAAGGAACCTGAGGAGAGT	0.637000														14			6		0	0	0.00116845	0	0
EIF2C1	26523	broad.mit.edu	37	1	36360795	36360796	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:36360795_36360796CC>TT	uc001bzl.3	+	7	1158_1159	c.945_946CC>TT	c.(943-948)aacctt>aaTTtt	p.L316F	EIF2C1_uc001bzk.3_Missense_Mutation_p.L241F|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	316	PAZ.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAAATATAACCTTCAGCTCAA	0.505000														49			18		0	0	6.4e-05	0	0
CTAGE5	4253	broad.mit.edu	37	14	39818153	39818153	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:39818153C>T	uc001wvi.4	+	22	2571	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	CTAGE5_uc001wuy.4_Silent_p.F660F|CTAGE5_uc001wuz.4_Silent_p.F728F|CTAGE5_uc001wva.4_Silent_p.F711F|CTAGE5_uc001wvb.4_Silent_p.F668F|CTAGE5_uc001wvc.4_Silent_p.F642F|CTAGE5_uc001wvf.4_Silent_p.F665F|CTAGE5_uc001wvg.4_Silent_p.F740F|CTAGE5_uc001wvh.4_Silent_p.F697F|CTAGE5_uc010amz.3_Silent_p.F356F|CTAGE5_uc001wvj.4_Silent_p.F711F	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	740	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CAGGGGATTTCCCAGGTCCAC	0.423000														74			25		0	0	0.000720815	0	0
MPO	4353	broad.mit.edu	37	17	56355300	56355300	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56355300G>A	uc002ivu.1	-	6	1269	c.1092C>T	c.(1090-1092)gcC>gcT	p.A364A		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	364					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCTGGTTGACGGCCAGCAGCC	0.652000														35			14		0	0	0.00185496	0	0
FAM83E	54854	broad.mit.edu	37	19	49107041	49107042	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49107041_49107042GG>AA	uc002pjn.2	-	3	950_951	c.885_886CC>TT	c.(883-888)cccccc>ccTTcc	p.P296S	SPACA4_uc002pjo.3_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	296										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGTTTCTGGGGGGGCGCAGGTG	0.718000														5			7		0	0	6.4e-05	0	0
DCC	1630	broad.mit.edu	37	18	51013171	51013171	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:51013171C>T	uc002lfe.2	+	25	4357	c.3741C>T	c.(3739-3741)gtC>gtT	p.V1247V	DCC_uc010dpf.2_Silent_p.V882V	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1247					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.A1246S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGCAGCTGTCGTGAGCGCCA	0.483000														57			31		0	0	0.00327116	0	0
FLT1	2321	broad.mit.edu	37	13	28919595	28919595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:28919595C>T	uc001usb.3	-	15	2627	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	FLT1_uc001usa.3_5'UTR	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	781			R -> Q (in a glioma low grade oligodendroglioma sample; somatic mutation).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R781Q(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTCATTTTTCGGATAAAGAG	0.423000														15			4		0	0	0.00024832	0	0
CR1L	1379	broad.mit.edu	37	1	207867858	207867858	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:207867858C>T	uc001hga.4	+	4	745	c.624C>T	c.(622-624)acC>acT	p.T208T	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	208	Sushi 3.					cytoplasm|extracellular region|membrane		p.V208V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATACTGCACCAGCAAAGATG	0.468000														143			53		0	0	0.00361006	0	0
MIP	4284	broad.mit.edu	37	12	56848285	56848285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56848285G>A	uc001slh.3	-	0	151	c.113C>T	c.(112-114)cCc>cTc	p.P38L		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	38					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	p.P38P(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						AACATGCAGGGGTCCAGGAGC	0.582000														19			45		0	0	0.00361006	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913819	77913819	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:77913819G>A	uc022bzi.1	-	0	99	c.99C>T	c.(97-99)ctC>ctT	p.L33L	ZCCHC5_uc004edc.1_Silent_p.L33L	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	33							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTGGGCCTGGAGAGCAGCAT	0.522000														3			11		0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179648923	179648923	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179648923G>A	uc021vsy.1	-	15	2874	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F	TTN_uc021vsz.1_Silent_p.F837F|TTN_uc021vta.1_Silent_p.F837F|TTN_uc021vtb.1_Silent_p.F837F|TTN_uc002unb.2_Silent_p.F883F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	883							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)			GTGTGTCAGCGAAGGGGAACT	0.537000														58			46		0	0	0.00361006	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281479	145281480	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:145281479_145281480GG>TT	uc001emn.4	+	3	779_780	c.409_410GG>TT	c.(409-411)ggg>TTg	p.G137L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.G137L|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G137L|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	137	EGF-like 4.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.T136T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AGGCTTCACAGGGCAGAAGTGT	0.554000														927			20		0	0	6.4e-05	0	0
abParts	0	broad.mit.edu	37	14	106725138	106725138	+	RNA	SNP	C	T	T	rs61750790	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106725138C>T	uc021ser.1	-	928		c.22340G>A								Parts of antibodies, mostly variable regions.																		CGCTGATTTCCCCCCCATCGT	0.587000														38			35		0	0	0.00283554	0	0
MLC1	23209	broad.mit.edu	37	22	50506907	50506907	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:50506907G>A	uc003bjg.1	-	9	1122	c.849C>T	c.(847-849)atC>atT	p.I283I	MLC1_uc011arl.1_Silent_p.I231I|MLC1_uc003bjh.1_Silent_p.I283I|MLC1_uc011arm.1_Silent_p.I253I|MLC1_uc011arn.1_Silent_p.I204I|MLC1_uc011aro.1_Silent_p.I249I	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	283						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CGATTCTCATGATGCTGAATG	0.502000														100			109		0	0	0.00361006	0	0
DDHD1	80821	broad.mit.edu	37	14	53521309	53521309	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:53521309A>G	uc001xai.3	-	10	2514	c.2284T>C	c.(2284-2286)Ttc>Ctc	p.F762L	DDHD1_uc001xaj.3_Missense_Mutation_p.F769L|DDHD1_uc001xah.3_Missense_Mutation_p.F762L|DDHD1_uc001xag.3_Missense_Mutation_p.F344L|DDHD1_uc001xak.1_Missense_Mutation_p.F158L	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	762	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AATCTTGAGAACAACATTCCT	0.443000														24			35		0	0	0.00111076	0	0
FAM190B	54462	broad.mit.edu	37	10	86131800	86131800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:86131800C>T	uc010qmd.1	+	1	1186	c.992C>T	c.(991-993)tCt>tTt	p.S331F	FAM190B_uc001kdg.1_Missense_Mutation_p.S331F|FAM190B_uc001kdh.1_Missense_Mutation_p.S331F			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	331										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						TCTCCATTTTCTGGGACTATG	0.418000														11			57		0	0	0.00361006	0	0
ACSM5	54988	broad.mit.edu	37	16	20439153	20439153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20439153C>T	uc002dhe.3	+	6	1112	c.965C>T	c.(964-966)aCc>aTc	p.T322I		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	322					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGTGTCCCAACCATCTTTCGG	0.473000														102			53		0	0	0.00361006	0	0
OR4K17	390436	broad.mit.edu	37	14	20585689	20585689	+	Missense_Mutation	SNP	G	A	A	rs148373137		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:20585689G>A	uc001vwo.1	+	0	124	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCAAGTGTCAGAATTCATTTT	0.438000														113			63		0	0	0.00361006	0	0
DNAH3	55567	broad.mit.edu	37	16	21008666	21008666	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:21008666G>A	uc010vbe.2	-	43	6540	c.6540C>T	c.(6538-6540)atC>atT	p.I2180I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2180	AAA 3 (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)		GCATGTCCACGATGTCCAGCC	0.552000														55			21		0	0	0.00152264	0	0
SLC31A1	1317	broad.mit.edu	37	9	116022652	116022652	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:116022652G>T	uc004bgu.3	+	4	658	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W	FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.4_Intron	NM_001859	NP_001850	O15431	COPT1_HUMAN	Homo sapiens solute carrier family 31 (copper transporters), member 1 (SLC31A1), mRNA.	158						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						GACCTACAACGGGTACCTCTG	0.512000														74			6		0.00307968	0.00884575	0.00307968	1	0
DNMT3A	1788	broad.mit.edu	37	2	25462016	25462016	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:25462016G>A	uc002rgc.3	-	19	2648	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	DNMT3A_uc002rgd.3_Silent_p.N797N|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Silent_p.N608N	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	797					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.N797Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCGGGAAGGTTACCCCAGA	0.582000			"""Mis, F, N, S"""		AML									12			18		0	0	0.00074312	0	0
C1orf116	79098	broad.mit.edu	37	1	207196695	207196695	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:207196695G>A	uc001hfd.2	-	3	673	c.414C>T	c.(412-414)atC>atT	p.I138I	C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	138						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGGCAATGTGGATATTCCTAG	0.587000														27			39		0	0	0.00170553	0	0
SDPR	8436	broad.mit.edu	37	2	192700920	192700920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:192700920C>T	uc002utb.3	-	1	1362	c.1007G>A	c.(1006-1008)gGt>gAt	p.G336D		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	336						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCGGAATGACCCTCTGCAAA	0.572000														69			60		0	0	0.00361006	0	0
ZFHX3	463	broad.mit.edu	37	16	72827203	72827203	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72827203G>A	uc002fck.3	-	8	10051	c.9378C>T	c.(9376-9378)ctC>ctT	p.L3126L	ZFHX3_uc002fcl.3_Silent_p.L2212L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3126					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	p.L3126R(1)		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)				TGAGGCCCGGGAGCAACACAG	0.562000														74			27		0	0	0.00106085	0	0
SLC4A4	8671	broad.mit.edu	37	4	72306347	72306347	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:72306347C>T	uc010iic.3	+	7	939	c.822C>T	c.(820-822)ttC>ttT	p.F274F	SLC4A4_uc003hfy.3_Silent_p.F274F|SLC4A4_uc010iib.3_Silent_p.F274F|SLC4A4_uc003hfz.3_Silent_p.F274F|SLC4A4_uc003hgc.4_Silent_p.F230F|SLC4A4_uc003hga.2_Silent_p.F152F|SLC4A4_uc003hgb.3_Silent_p.F230F	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	274						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGAATAAGTTCATGAAAAAAT	0.418000														46			26		0	0	0.00106085	0	0
APOL1	8542	broad.mit.edu	37	22	36653381	36653381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:36653381C>T	uc003ape.3	+	4	437	c.163C>T	c.(163-165)Cca>Tca	p.P55S	APOL1_uc011amn.1_5'UTR|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Intron|APOL1_uc003apf.3_Missense_Mutation_p.P39S|APOL1_uc011amp.2_Missense_Mutation_p.P39S|APOL1_uc011amq.2_Missense_Mutation_p.P21S|APOL1_uc010gwx.3_5'UTR	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	39					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ACAAAACGTTCCAAGTGGGAC	0.562000														75			60		0	0	0.00361006	0	0
FMN2	56776	broad.mit.edu	37	1	240370636	240370636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:240370636G>A	uc010pye.2	+	5	2761	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	FMN2_uc010pyd.2_Missense_Mutation_p.E842K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	842	FH1.|Pro-rich.				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	p.E985K(1)		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)			AACCAGCCACGAACACTCTGT	0.557000														25			62		0	0	0.00361006	0	0
L1CAM	3897	broad.mit.edu	37	X	153130444	153130444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:153130444C>T	uc004fjb.3	-	21	2986	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	L1CAM_uc004fjc.3_Missense_Mutation_p.E960K|L1CAM_uc010nuo.3_Missense_Mutation_p.E955K	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	960	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCCCCCTCATCCACTGTG	0.677000														3			24		0	0	0.000878237	0	0
TDRD7	23424	broad.mit.edu	37	9	100194381	100194381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:100194381C>T	uc004axj.3	+	3	649	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	TDRD7_uc011lux.2_Missense_Mutation_p.P68S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	142					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TAATCCAGCACCGTTAAGAGA	0.388000														10			55		0	0	0.00361006	0	0
UACA	55075	broad.mit.edu	37	15	70959686	70959686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:70959686G>A	uc002asr.3	-	15	3441	c.3337C>T	c.(3337-3339)Cca>Tca	p.P1113S	UACA_uc010uke.2_Missense_Mutation_p.P1004S|UACA_uc002asq.3_Missense_Mutation_p.P1100S|UACA_uc010bin.1_Missense_Mutation_p.P1088S	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1113						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTTCCAATGGAACATGTTGT	0.373000														94			47		0	0	0.00361006	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826135	43826135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:43826135G>A	uc010skx.2	-	20	3068	c.3068C>T	c.(3067-3069)cCc>cTc	p.P1023L	ADAMTS20_uc001rno.1_Missense_Mutation_p.P177L|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P177L	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1023	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGCCCAACTGGGACAGGAAAA	0.388000														19			24		0	0	0.00278032	0	0
LRP5L	91355	broad.mit.edu	37	22	25755850	25755850	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:25755850G>A	uc003abs.3	-	0	2675	c.210C>T	c.(208-210)atC>atT	p.I70I	LRP5L_uc011ajz.2_Silent_p.I70I|LRP5L_uc010guw.1_Silent_p.I70I	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	70										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CTGACACCAGGATCTTGTGGG	0.612000														118			58		0	0	0.00361006	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:35478537C>T	uc003anj.3	+	1	1207	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000														64			77		0	0	0.00361006	0	0
TRERF1	55809	broad.mit.edu	37	6	42236396	42236396	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:42236396C>T	uc003ose.2	-	4	1496	c.933G>A	c.(931-933)caG>caA	p.Q311Q	TRERF1_uc011duq.1_Silent_p.Q311Q|TRERF1_uc003osb.2_Silent_p.Q150Q|TRERF1_uc003osc.2_Silent_p.Q150Q|TRERF1_uc003osd.2_Silent_p.Q311Q	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	311	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gcagctgtagctgctgcggct	0.577000														46			47		0	0	0.00361006	0	0
DNM3	26052	broad.mit.edu	37	1	171890898	171890898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:171890898C>T	uc001gie.3	+	1	348	c.172C>T	c.(172-174)Cct>Tct	p.P58S	DNM3_uc001gid.4_Missense_Mutation_p.P58S|DNM3_uc009wwb.2_Missense_Mutation_p.P58S|DNM3_uc001gif.3_Missense_Mutation_p.P58S	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	58					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGACTTTCTCCCTCGAGGGTC	0.413000														12			6		0	0	0.00116845	0	0
UNC45A	55898	broad.mit.edu	37	15	91486206	91486206	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:91486206C>T	uc002bqg.3	+	7	1261	c.921C>T	c.(919-921)gtC>gtT	p.V307V	UNC45A_uc002bqd.3_Silent_p.V292V	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	307					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGTGGGGGTCTCTGGCCAAG	0.577000														211			224		0	0	0.00361006	0	0
RAG2	5897	broad.mit.edu	37	11	36615435	36615435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:36615435C>T	uc021qge.1	-	0	284	c.284G>A	c.(283-285)gGa>gAa	p.G95E	RAG2_uc021qgc.1_Missense_Mutation_p.G95E|RAG2_uc021qgd.1_Missense_Mutation_p.G95E|RAG2_uc001mwv.4_Missense_Mutation_p.G95E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	95					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGTTTTCCCTCCATGGATGAT	0.423000									Familial Hemophagocytic Lymphohistiocytosis					98			27		0	0	0.001512	0	0
SCAND3	114821	broad.mit.edu	37	6	28539923	28539923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28539923G>A	uc003nlo.3	-	3	4361	c.3743C>T	c.(3742-3744)tCa>tTa	p.S1248L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1248					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						tatccaaaatgaaggaagtga	0.373000														43			34		0	0	0.00283554	0	0
FBXO7	25793	broad.mit.edu	37	22	32894166	32894166	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:32894166C>T	uc003amq.3	+	8	1501	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	FBXO7_uc003amt.3_Silent_p.S327S|FBXO7_uc003amu.3_Silent_p.S292S|FBXO7_uc003amv.3_Silent_p.S105S	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	406					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAAAGAATCCCCGAAAGGGC	0.453000														130			31		0	0	0.00283554	0	0
GRM4	2914	broad.mit.edu	37	6	34101012	34101012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:34101012G>A	uc003oir.4	-	0	625	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	GRM4_uc011dsn.2_Missense_Mutation_p.R88C|GRM4_uc010jvh.3_Missense_Mutation_p.R88C|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Missense_Mutation_p.R7C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	88					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGTTGATGCGATCCAGGGCG	0.632000														27			28		0	0	0.0024448	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860102	96860102	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:96860102C>T	uc010mrj.2	+	5	1356	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	PTPDC1_uc004auf.2_Silent_p.S364S|PTPDC1_uc004aug.2_Silent_p.S364S|PTPDC1_uc004auh.2_Silent_p.S416S|PTPDC1_uc010mri.2_Silent_p.S416S	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	364							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGATTTTCTCCAATGAGCAAC	0.488000														7			62		0	0	0.00361006	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870132	131870132	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:131870132G>A	uc003vra.4	-	15	3313	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1028	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane		p.I1028M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCCTGGTGGATCTTGGCCC	0.557000														94			24		0	0	0.000720815	0	0
KLHL13	90293	broad.mit.edu	37	X	117043651	117043651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:117043651C>T	uc011mtp.2	-	5	1121	c.988G>A	c.(988-990)Gtt>Att	p.V330I	KLHL13_uc004eqk.3_Missense_Mutation_p.V276I|KLHL13_uc004eql.3_Missense_Mutation_p.V327I|KLHL13_uc011mtn.2_Missense_Mutation_p.V167I|KLHL13_uc011mto.2_Missense_Mutation_p.V321I|KLHL13_uc011mtq.2_Missense_Mutation_p.V311I|KLHL13_uc004eqm.3_Missense_Mutation_p.V285I|KLHL13_uc022cde.1_Missense_Mutation_p.V311I	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	327					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GACTGCATAACTGGCTGCATA	0.453000														4			38		0	0	0.00170553	0	0
DZIP1	22873	broad.mit.edu	37	13	96239907	96239907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:96239907G>A	uc001vmk.3	-	19	2956	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	DZIP1_uc001vmj.3_Missense_Mutation_p.P178S|DZIP1_uc001vml.3_Missense_Mutation_p.P683S	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	702					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGCGGCACAGGAAGTGGGCCT	0.562000														40			19		0	0	0.00278032	0	0
CUL9	23113	broad.mit.edu	37	6	43166404	43166404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43166404C>T	uc003ouk.3	+	11	2936	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	CUL9_uc003oul.3_Missense_Mutation_p.S954F|CUL9_uc010jyk.3_Missense_Mutation_p.S106F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	954					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.R953*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGATTCGATCCCTGGTTGGG	0.612000														88			75		0	0	0.00361006	0	0
CA1	759	broad.mit.edu	37	8	86241982	86241982	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:86241982G>C	uc022axc.1	-	5	684	c.605C>G	c.(604-606)cCt>cGt	p.P202R	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.P202R|CA1_uc022axd.1_Missense_Mutation_p.P202R|CA1_uc010mae.2_Missense_Mutation_p.P202R|CA1_uc003ydi.3_Missense_Mutation_p.P202R	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	202					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	ATAAAGAGGAGGATGAGTCAG	0.483000														8			4		0	0	0.000602214	0	0
OR56B4	196335	broad.mit.edu	37	11	6129374	6129374	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:6129374C>T	uc010qzx.2	+	0	366	c.366C>T	c.(364-366)ctC>ctT	p.L122L		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATCTTTCTCTGCATGGCAG	0.483000														40			31		0	0	0.00327116	0	0
LRBA	987	broad.mit.edu	37	4	151186938	151186938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:151186938C>T	uc010ipj.3	-	57	8772	c.8528G>A	c.(8527-8529)gGa>gAa	p.G2843E	LRBA_uc010ipi.3_Missense_Mutation_p.G365E|LRBA_uc003ils.4_Missense_Mutation_p.G738E|LRBA_uc003ilt.4_Missense_Mutation_p.G1491E|LRBA_uc003ilu.4_Missense_Mutation_p.G2831E|LRBA_uc003ilr.4_Missense_Mutation_p.G263E	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2843						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACAATGCTTCCTGAAGCCAT	0.463000														7			29		0	0	0.00178596	0	0
DSP	1832	broad.mit.edu	37	6	7581406	7581406	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:7581406C>T	uc003mxp.1	+	22	5262	c.4983C>T	c.(4981-4983)gtC>gtT	p.V1661V	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1661	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTCTGAGGTCGAGGCCCTGA	0.547000														121			87		0	0	0.00361006	0	0
TMEM104	54868	broad.mit.edu	37	17	72791704	72791704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:72791704C>T	uc002jls.4	+	7	731	c.569C>T	c.(568-570)aCc>aTc	p.T190I	TMEM104_uc010wrf.1_Missense_Mutation_p.T190I|TMEM104_uc010wrg.1_Missense_Mutation_p.T203I|TMEM104_uc010dfx.3_Missense_Mutation_p.T190I	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	190						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GAAGCAGACACCAAATACAAT	0.637000														28			7		0	0	0.000274275	0	0
NRD1	4898	broad.mit.edu	37	1	52255268	52255268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:52255268C>T	uc001ctc.4	-	31	3756	c.3434G>A	c.(3433-3435)gGg>gAg	p.G1145E	NRD1_uc009vzb.3_Missense_Mutation_p.G840E|NRD1_uc001cte.3_Missense_Mutation_p.G1013E|NRD1_uc001ctd.4_Missense_Mutation_p.G1077E	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	1076				DCIIPITDIRAFTTTLNLLPYHKIVK -> SVSSPLLISGL SQQHSTFSPTIK (in Ref. 1).	cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACTTCCTGGCCCTCTATGGGC	0.418000														38			53		0	0	0.00361006	0	0
LAMA5	3911	broad.mit.edu	37	20	60887273	60887273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:60887273G>A	uc002ycq.3	-	68	9527	c.9460C>T	c.(9460-9462)Cac>Tac	p.H3154Y	LAMA5_uc021wfw.1_Missense_Mutation_p.H3154Y	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3154	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGCGCTGTGGAAGCCGAAG	0.682000														23			23		0	0	0.000720815	0	0
C3	718	broad.mit.edu	37	19	6707815	6707815	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:6707815C>T	uc002mfm.3	-	14	2033	c.1971G>A	c.(1969-1971)agG>agA	p.R657R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	657					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.R657S(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTCACCTGCCCTCTGGGCGG	0.667000														37			56		0	0	0.00361006	0	0
SCN10A	6336	broad.mit.edu	37	3	38750978	38750978	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38750978C>T	uc003ciq.3	-	23	4272	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1424					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)	TCTTTTTTTTCTGTTGATTGA	0.413000														25			42		0	0	0.00361006	0	0
DIDO1	11083	broad.mit.edu	37	20	61511312	61511312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:61511312G>A	uc002ydr.2	-	15	6308	c.5996C>T	c.(5995-5997)tCt>tTt	p.S1999F	DIDO1_uc002yds.2_Missense_Mutation_p.S1999F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1999	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATTTTTTTCAGAAAAGGGTGC	0.602000														108			151		0	0	0.00361006	0	0
TSIX	9383	broad.mit.edu	37	X	73041479	73041479	+	RNA	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:73041479C>A	uc004ebn.2	+	0		c.29440C>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GGCAGGTTGCCCTTAAAACAG	0.428000														0			12		4.3838e-07	1.27157e-06	0.00185496	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140710337	140710337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140710337G>A	uc003lji.2	+	0	86	c.86G>A	c.(85-87)gGg>gAg	p.G29E	PCDHGC5_uc011dan.2_Missense_Mutation_p.G29E	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	29					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGGCTGGGAATATTCAC	0.542000														65			31		0	0	0.001512	0	0
TNRC6A	27327	broad.mit.edu	37	16	24803029	24803029	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:24803029G>A	uc002dmm.3	+	5	3180	c.3066G>A	c.(3064-3066)tgG>tgA	p.W1022*	TNRC6A_uc010bxs.3_Nonsense_Mutation_p.W769*|TNRC6A_uc010vcc.1_Nonsense_Mutation_p.W769*|TNRC6A_uc002dmn.3_Nonsense_Mutation_p.W769*|TNRC6A_uc002dmo.3_Nonsense_Mutation_p.W769*	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1022	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGAACATGTGGAACAAAAACG	0.458000														35			19		0	0	0.00121646	0	0
PRG4	10216	broad.mit.edu	37	1	186276646	186276646	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:186276646A>C	uc001gru.4	+	6	1846	c.1795A>C	c.(1795-1797)Aag>Cag	p.K599Q	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.K558Q|PRG4_uc009wyl.3_Missense_Mutation_p.K506Q|PRG4_uc009wym.3_Missense_Mutation_p.K465Q|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	599	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACCAAGAAGCCTGCACC	0.647000														12			21		0	0	0.00395357	0	0
HKR1	284459	broad.mit.edu	37	19	37854458	37854458	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37854458C>T	uc002ogb.3	+	5	2030	c.1761C>T	c.(1759-1761)ggC>ggT	p.G587G	HKR1_uc002ofx.3_Silent_p.G303G|HKR1_uc002ofy.3_Silent_p.G303G|HKR1_uc002oga.3_Silent_p.G569G|HKR1_uc010xto.2_Silent_p.G569G|HKR1_uc002ogc.3_Silent_p.G568G|HKR1_uc010xtp.2_Silent_p.G526G|HKR1_uc002ogd.3_Silent_p.G526G	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	587					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGGCAAGGCTTTTGTGCTA	0.552000														21			16		0	0	0.000422831	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942241	24942241	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:24942241G>A	uc002dnb.3	-	18	2472	c.2379C>T	c.(2377-2379)acC>acT	p.T793T	ARHGAP17_uc002dmw.3_Silent_p.T55T|ARHGAP17_uc002dmy.3_Silent_p.T238T|ARHGAP17_uc002dmz.3_Silent_p.T317T|ARHGAP17_uc002dna.3_Silent_p.T520T|ARHGAP17_uc002dnc.3_Silent_p.T715T|ARHGAP17_uc010vcf.2_Silent_p.T536T	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	793	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTCTCGGTAAGGTTCCAGCAT	0.632000														55			26		0	0	0.000720815	0	0
ADAM32	203102	broad.mit.edu	37	8	39080710	39080710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:39080710G>A	uc003xmt.4	+	13	1723	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	ADAM32_uc011lch.2_Missense_Mutation_p.G394E|ADAM32_uc003xmu.4_Missense_Mutation_p.G387E|ADAM32_uc003xmv.3_Missense_Mutation_p.E15K	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	493	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGTTATGACGGAGACTGCCAT	0.343000														11			10		0	0	0.000978159	0	0
CNGB3	54714	broad.mit.edu	37	8	87683209	87683209	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:87683209C>T	uc003ydx.3	-	3	504	c.456G>A	c.(454-456)gaG>gaA	p.E152E	CNGB3_uc010maj.3_Silent_p.E14E	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	152					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGAGATCTCCCTCTACCAACT	0.498000														128			125		0	0	0.00361006	0	0
COL22A1	169044	broad.mit.edu	37	8	139833474	139833474	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139833474G>A	uc003yvd.3	-	6	1597	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	384	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.A383E(1)|p.A383A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCTGCACCAGCGCACAGTCA	0.572000										HNSCC(7;0.00092)				64			26		0	0	0.000878237	0	0
C7orf63	79846	broad.mit.edu	37	7	89891300	89891300	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:89891300C>T	uc010lep.3	+	3	537	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.2_Silent_p.L96L|C7orf63_uc010leo.2_Silent_p.L96L	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	96							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AATTCTGAATCTGTGTTCAGG	0.244000														87			22		0	0	0.000720815	0	0
PTGS1	5742	broad.mit.edu	37	9	125140259	125140259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:125140259C>T	uc004bmg.1	+	2	311	c.176C>T	c.(175-177)aCc>aTc	p.T59I	PTGS1_uc011lys.1_Missense_Mutation_p.T34I|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.T59I|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	59	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	TGTGACTGCACCCGCACGGGC	0.607000														3			29		0	0	0.001512	0	0
C2orf65	130951	broad.mit.edu	37	2	74803660	74803660	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:74803660G>A	uc002smy.3	-	5	972	c.855C>T	c.(853-855)gaC>gaT	p.D285D	C2orf65_uc010ysa.2_Silent_p.D285D|C2orf65_uc002smz.2_Silent_p.D285D|C2orf65_uc010ffp.3_Silent_p.D3D	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	285					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						CTCCTTTAGGGTCATCCATTC	0.512000														27			27		0	0	0.000878237	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95116051	95116051	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:95116051C>T	uc003klm.3	+	8	1915	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L		NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	460	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAAGAGTGTCCTGATTCCCGT	0.458000														19			27		0	0	0.000878237	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	Missense_Mutation	SNP	C	G	G	rs56290535	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:78208916C>G	uc010bky.2	-	13	1581	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TCCAGATGTTCTCCTCCATCT	0.627000														82			4		0	0	0.000602214	0	0
CADPS2	93664	broad.mit.edu	37	7	122091457	122091457	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:122091457G>A	uc022akp.1	-	13	2669	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S	CADPS2_uc003vkg.4_Silent_p.S450S|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.S750S|CADPS2_uc022akr.1_Silent_p.S753S	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	753					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTCTAAAAGGGAAGAGAGTC	0.303000														39			13		0	0	0.00185496	0	0
MTSS1	9788	broad.mit.edu	37	8	125565768	125565768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:125565768C>T	uc003yrl.2	-	14	2279	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.G227E|MTSS1_uc011lin.1_Missense_Mutation_p.G352E|MTSS1_uc011lio.1_Missense_Mutation_p.G468E|MTSS1_uc003yri.2_Missense_Mutation_p.G296E|MTSS1_uc003yrj.2_Missense_Mutation_p.G553E|MTSS1_uc003yrk.2_Missense_Mutation_p.G578E	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	578					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CATAGCAGGTCCCAGGGTGGT	0.607000														47			24		0	0	0.00278032	0	0
RABL3	285282	broad.mit.edu	37	3	120424922	120424922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:120424922G>A	uc003edx.3	-	3	338	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	103	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CAAGTTTTGGGAGGACTTCTT	0.388000														61			61		0	0	0.00361006	0	0
GATM	2628	broad.mit.edu	37	15	45657033	45657033	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:45657033C>T	uc001zvc.3	-	6	1333	c.1004G>A	c.(1003-1005)tGg>tAg	p.W335*	GATM_uc001zvb.3_Nonsense_Mutation_p.W206*|GATM_uc010uev.1_Nonsense_Mutation_p.W388*	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	335					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AATGATAGTCCATCCTGCTTT	0.338000														24			17		0	0	0.00121646	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389381	62389381	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62389381G>A	uc001ntw.3	-	0	267	c.39C>T	c.(37-39)ttC>ttT	p.F13F	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_5'UTR|B3GAT3_uc010rlz.2_Silent_p.F13F	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	13					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCGACACCAGGAAGTAGGCGA	0.751000														26			35		0	0	0.00285205	0	0
MUC16	94025	broad.mit.edu	37	19	9075994	9075994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9075994G>A	uc002mkp.3	-	2	11656	c.11452C>T	c.(11452-11454)Ccc>Tcc	p.P3818S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3819	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						GTGGTGGTGGGAAGCTGAGTG	0.507000														155			59		0	0	0.00361006	0	0
FCGR3B	2215	broad.mit.edu	37	1	161594362	161594362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:161594362C>T	uc009wul.3	-	4	1013	c.753G>A	c.(751-753)atG>atA	p.M251I	FCGR3B_uc021pdo.1_Missense_Mutation_p.M215I	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	215					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAAGGAGTACCATCACCAAGC	0.413000														26			41		0	0	0.0025221	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139743	142139743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142139743C>T	uc003vyt.3	-	0	73	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AAACCCAGGACCACCCAGCAT	0.532000														27			87		0	0	0.00361006	0	0
SDK1	221935	broad.mit.edu	37	7	4051763	4051763	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:4051763G>A	uc003smx.3	+	15	2455	c.2316G>A	c.(2314-2316)ccG>ccA	p.P772P	SDK1_uc010kso.3_Silent_p.P48P	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	772	Fibronectin type-III 2.				cell adhesion	integral to membrane		p.P772L(1)|p.P771R(1)|p.P772Q(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGCTCCCCCGAAAAATATAG	0.522000														115			103		0	0	0.00361006	0	0
CDH7	1005	broad.mit.edu	37	18	63547753	63547753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:63547753G>A	uc002lkb.3	+	11	2407	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	CDH7_uc002ljz.3_Missense_Mutation_p.E661K	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGGGGGAGAGGAGGACACGGA	0.488000														58			28		0	0	0.00127121	0	0
PCDH15	65217	broad.mit.edu	37	10	55700729	55700729	+	Silent	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:55700729A>C	uc010qhy.1	-	24	3539	c.3144T>G	c.(3142-3144)ccT>ccG	p.P1048P	PCDH15_uc010qhq.2_Silent_p.P1048P|PCDH15_uc010qhr.2_Silent_p.P1043P|PCDH15_uc021pqv.1_Silent_p.P1043P|PCDH15_uc021pqw.1_Silent_p.P1055P|PCDH15_uc010qht.2_Silent_p.P1050P|PCDH15_uc021pqx.1_Silent_p.P1043P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.P1043P|PCDH15_uc021pqz.1_Silent_p.P1021P|PCDH15_uc010qhv.1_Silent_p.P1043P|PCDH15_uc010qhw.1_Silent_p.P1006P|PCDH15_uc010qhx.1_Silent_p.P972P|PCDH15_uc010qhz.1_Silent_p.P1043P|PCDH15_uc010qia.1_Silent_p.P1021P|PCDH15_uc001jju.1_Silent_p.P1043P|PCDH15_uc010qib.1_Silent_p.P1021P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1043	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACTTACTGGAGGAGGTCTGC	0.348000										HNSCC(58;0.16)				21			35		0	0	0.000953801	0	0
CENPB	1059	broad.mit.edu	37	20	3765730	3765730	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3765730G>A	uc002wjk.3	-	0	1608	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S	CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	Homo sapiens centromere protein B, 80kDa (CENPB), mRNA.	467					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						AGCCCTCCGAGGAGCTCTCCT	0.612000														20			16		0	0	0.00121646	0	0
OR10T2	128360	broad.mit.edu	37	1	158368976	158368976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158368976G>A	uc010pih.2	-	0	281	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGCCATGAAGGAGATGGTCTT	0.478000														21			24		0	0	0.00332997	0	0
NDRG1	10397	broad.mit.edu	37	8	134296509	134296509	+	Silent	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:134296509A>G	uc003yuh.2	-	1	632	c.46T>C	c.(46-48)Ttg>Ctg	p.L16L	NDRG1_uc003yug.2_Silent_p.L16L|NDRG1_uc010mee.2_5'UTR|NDRG1_uc010mef.2_Intron|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Silent_p.L16L	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	16					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TTCTCCACCAAAGGCTTCACC	0.547000			T	ERG	prostate									42			15		0	0	0.00074312	0	0
TREML2	79865	broad.mit.edu	37	6	41166018	41166018	+	Silent	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:41166018G>T	uc010jxm.1	-	1	384	c.205C>A	c.(205-207)Cga>Aga	p.R69R		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	69	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.R128R(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCCAGACTCGGGCAAAGCCA	0.577000														136			7		0.00307968	0.00884575	0.00307968	1	0
FLNC	2318	broad.mit.edu	37	7	128483517	128483517	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:128483517G>A	uc003vnz.4	+	17	2906	c.2697G>A	c.(2695-2697)aaG>aaA	p.K899K	FLNC_uc003voa.4_Silent_p.K899K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	899					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGCCGGCAAGGCCAAGCTGG	0.582000														37			17		0	0	0.00074312	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691087	39691087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:39691087G>A	uc002okq.1	+	4	669	c.650G>A	c.(649-651)cGa>cAa	p.R217Q		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	217	FBA.				protein catabolic process			p.R217R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GTGGCCCCCCGAACTTCTGGG	0.667000														44			38		0	0	0.0025221	0	0
OR2K2	26248	broad.mit.edu	37	9	114089881	114089881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:114089881C>T	uc011lwp.2	-	0	833	c.833G>A	c.(832-834)gGa>gAa	p.G278E		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GGTAAGCACTCCGTAAAGCAA	0.378000														4			36		0	0	0.000814825	0	0
ZNF268	10795	broad.mit.edu	37	12	133764608	133764608	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:133764608C>T	uc010tch.2	+	2	390	c.184C>T	c.(184-186)Cta>Tta	p.L62L	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tbx.2_Intron|ZNF268_uc010tbw.2_Silent_p.L62L|ZNF268_uc010tce.2_Intron|ZNF268_uc010tcg.2_Silent_p.L62L|ZNF268_uc010tca.2_Intron|ZNF268_uc010tcf.2_Silent_p.L62L|ZNF268_uc010tcb.2_Silent_p.L62L|ZNF268_uc021rgu.1_5'UTR	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGAGAAAGTCCTAGAGTGGCT	0.463000														4			5		0	0	0.00198382	0	0
SCARF1	8578	broad.mit.edu	37	17	1548500	1548500	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:1548500C>T	uc002fsz.1	-	1	185	c.135G>A	c.(133-135)tgG>tgA	p.W45*	SCARF1_uc002fsy.1_Nonsense_Mutation_p.W45*|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Nonsense_Mutation_p.W45*	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	45					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTTCTGCCTCCAGCCTGCGC	0.622000														3			93		0	0	0.00361006	0	0
ZFHX3	463	broad.mit.edu	37	16	72829102	72829102	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72829102G>A	uc002fck.3	-	8	8152	c.7479C>T	c.(7477-7479)ccC>ccT	p.P2493P	ZFHX3_uc002fcl.3_Silent_p.P1579P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2493					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)				ACTGGGGTAAGGGGCACTGTG	0.637000														22			40		0	0	0.00222228	0	0
CACNG3	10368	broad.mit.edu	37	16	24358083	24358083	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:24358083C>T	uc002dmf.3	+	1	1442	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	80					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAAGAAAATCGATCACTTCC	0.582000														32			9		0	0	0.000274275	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003783	44003783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:44003783C>T	uc002xny.3	-	3	745	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	222					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						ACCCTGGGCGCCGGGAGGTGG	0.602000														38			48		0	0	0.00361006	0	0
SOX8	30812	broad.mit.edu	37	16	1035151	1035151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:1035151C>T	uc002ckn.3	+	2	1221	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L		NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	369					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				AGCGCCAccccggccgccccc	0.731000														4			12		0	0	0.00185496	0	0
CDO1	1036	broad.mit.edu	37	5	115146962	115146962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:115146962C>T	uc003krg.3	-	2	610	c.299G>A	c.(298-300)gGa>gAa	p.G100E		NM_001801	NP_001792	Q16878	CDO1_HUMAN	Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA.	100					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	p.G100R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CTTTAGATTTCCCTGTAGCAT	0.408000														62			82		0	0	0.00361006	0	0
TRHR	7201	broad.mit.edu	37	8	110100064	110100064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:110100064G>A	uc003ymz.4	+	0	412	c.323G>A	c.(322-324)gGa>gAa	p.G108E		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	108						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CAGTATTTGGGAATTAATGCA	0.463000														48			85		0	0	0.00361006	0	0
CPA5	93979	broad.mit.edu	37	7	130007368	130007368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:130007368C>T	uc010lmd.1	+	11	1614	c.994C>T	c.(994-996)Cct>Tct	p.P332S	CPA5_uc003vps.2_Missense_Mutation_p.P332S|CPA5_uc003vpt.2_Missense_Mutation_p.P332S|CPA5_uc010lme.1_Missense_Mutation_p.P332S|CPA5_uc003vpu.1_Missense_Mutation_p.P332S|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	332					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCTTATGTACCCTTACGGCCG	0.542000														94			44		0	0	0.00361006	0	0
TIMD4	91937	broad.mit.edu	37	5	156375464	156375464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:156375464C>T	uc003lwh.2	-	4	864	c.807G>A	c.(805-807)tgG>tgA	p.W269*	TIMD4_uc010jii.2_Intron	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	269	Ser-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCGTTTTCCACATTGACA	0.353000														145			70		0	0	0.00361006	0	0
SLC9C2	284525	broad.mit.edu	37	1	173523904	173523904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:173523904G>A	uc001giz.2	-	10	1688	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	SLC9C2_uc009wwe.2_Intron|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	422					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CATCACGTATGAATTTATTCC	0.323000														121			40		0	0	0.00361006	0	0
KLKB1	3818	broad.mit.edu	37	4	187172454	187172455	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:187172454_187172455CC>TT	uc003iyy.3	+	7	911_912	c.840_841CC>TT	c.(838-843)agcctt>agTTtt	p.L281F	KLKB1_uc011clc.2_Missense_Mutation_p.L79F|KLKB1_uc011cld.2_Missense_Mutation_p.L243F	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	281	Apple 3.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGGATATAGCCTTTTAACCTG	0.297000														15			35		0	0	6.4e-05	0	0
ADCY1	107	broad.mit.edu	37	7	45632475	45632475	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:45632475C>T	uc003tne.4	+	1	775	c.757C>T	c.(757-759)Cga>Tga	p.R253*	ADCY1_uc003tnd.3_Nonsense_Mutation_p.R28*	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	253					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CATTGAGGACCGACTGAGGCT	0.597000														35			40		0	0	0.000953801	0	0
TTC13	79573	broad.mit.edu	37	1	231044507	231044507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:231044507C>T	uc001huf.4	-	21	2461	c.2419G>A	c.(2419-2421)Ggt>Agt	p.G807S	TTC13_uc001hug.4_Missense_Mutation_p.G753S|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.G696S	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	807							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GCCTCTGAACCAGGGGCTGTC	0.448000														32			16		0	0	0.000958276	0	0
KPRP	448834	broad.mit.edu	37	1	152732973	152732973	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152732973C>T	uc001fal.1	+	1	967	c.909C>T	c.(907-909)ccC>ccT	p.P303P	KPRP_uc021ozf.1_Silent_p.P303P	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	303	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGAACCCATATATAACA	0.597000														36			11		0	0	0.00244969	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900726	4900726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:4900726G>A	uc003snk.3	-	0	900	c.716C>T	c.(715-717)tCc>tTc	p.S239F	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	238					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TAATATATTGGAATAGATATT	0.443000														65			65		0	0	0.00361006	0	0
TRPM5	29850	broad.mit.edu	37	11	2436006	2436006	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:2436006C>T	uc010qxl.2	-	10	1692	c.1683G>A	c.(1681-1683)ctG>ctA	p.L561L	TRPM5_uc001lwm.4_Silent_p.L561L|TRPM5_uc009ydn.3_Silent_p.L563L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	561						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTCCGTCTCCAGGTGCGACA	0.721000														77			44		0	0	0.00361006	0	0
CLCN1	1180	broad.mit.edu	37	7	143047536	143047536	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143047536C>T	uc003wcr.1	+	20	2562	c.2475C>T	c.(2473-2475)ccC>ccT	p.P825P	CLCN1_uc011ktc.1_Silent_p.P437P	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	825	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACCAGTCTCCCTTCCAGCTGG	0.562000														8			36		0	0	0.000953801	0	0
CASP8	841	broad.mit.edu	37	2	202137459	202137459	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:202137459C>A	uc002uxr.1	+	4	719	c.510C>A	c.(508-510)agC>agA	p.S170R	CASP8_uc010ftc.1_Missense_Mutation_p.S170R|CASP8_uc002uxo.1_Missense_Mutation_p.S170R|CASP8_uc002uxq.1_Missense_Mutation_p.S170R|CASP8_uc002uxp.1_Missense_Mutation_p.S202R|CASP8_uc002uxs.1_Missense_Mutation_p.S170R|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.S229R|CASP8_uc010ftd.1_Missense_Mutation_p.S67R|CASP8_uc002uxv.1_Missense_Mutation_p.S170R|CASP8_uc002uxw.1_Missense_Mutation_p.S170R|CASP8_uc021vuy.1_3'UTR|CASP8_uc021vuz.1_Missense_Mutation_p.S170R|CASP8_uc021vva.1_Missense_Mutation_p.S170R|CASP8_uc010ftf.2_Missense_Mutation_p.S170R|CASP8_uc010fte.1_Missense_Mutation_p.S67R	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	170	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCAACAAGAGCCTGCTGAAGA	0.428000										HNSCC(4;0.00038)				164			32		1.836e-18	5.3669e-18	0.00375469	1	0
ECEL1	9427	broad.mit.edu	37	2	233346557	233346557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:233346557G>A	uc002vsv.2	-	12	2004	c.1799C>T	c.(1798-1800)tCt>tTt	p.S600F	ECEL1_uc010fya.1_Missense_Mutation_p.S598F|ECEL1_uc010fyb.1_Missense_Mutation_p.S307F	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	600					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTAGTTGAGAGACCTGGGCCC	0.682000														31			14		0	0	0.00316338	0	0
ZNF224	7767	broad.mit.edu	37	19	44611150	44611150	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44611150G>A	uc002oyh.2	+	5	1154	c.837G>A	c.(835-837)caG>caA	p.Q279Q	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	279					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAGAACATCAGAGAATCCATA	0.423000														35			23		0	0	0.00229938	0	0
ZFP57	346171	broad.mit.edu	37	6	29640353	29640353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29640353C>T	uc011dlw.2	-	3	1686	c.1535G>A	c.(1534-1536)aGg>aAg	p.R512K		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	428					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.I512M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCCTCTTCTCCTGGGGGTATG	0.512000														56			48		0	0	0.00361006	0	0
GTF3C1	2975	broad.mit.edu	37	16	27549248	27549248	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:27549248C>T	uc002dov.2	-	4	649	c.609_splice	c.e4-1	p.K203_splice	GTF3C1_uc002dou.3_Splice_Site_p.K203_splice	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	203						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGCATCAACCCTGGAGGAAA	0.453000														15			23		0	0	0.00229938	0	0
SSTR3	6753	broad.mit.edu	37	22	37603068	37603069	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37603068_37603069CC>TT	uc003ara.3	-	1	836_837	c.774_775GG>AA	c.(772-777)atggtg>atAAtg	p.258_259MV>IM	SSTR3_uc003arb.3_Missense_Mutation_p.258_259MV>IM|SSTR3_uc021wos.1_Missense_Mutation_p.258_259MV>IM	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	258					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						ACGGCCACCACCATGCGCGTGA	0.673000														47			52		0	0	6.4e-05	0	0
ABCA4	24	broad.mit.edu	37	1	94487467	94487467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:94487467G>A	uc001dqh.3	-	32	4812	c.4708C>T	c.(4708-4710)Ccc>Tcc	p.P1570S		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1570					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCGTGATGGGGACGACTGGG	0.498000														26			60		0	0	0.00361006	0	0
C17orf28	283987	broad.mit.edu	37	17	72949729	72949729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:72949729C>T	uc002jmj.4	-	14	2031	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	C17orf28_uc002jmi.3_Missense_Mutation_p.E30K|C17orf28_uc010wrs.2_Missense_Mutation_p.E427K	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	628						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TGGGACTTCTCGGTCAGCTTG	0.597000														36			12		0	0	0.00316338	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					28			69		0	0	0.00361006	0	0
LRP1B	53353	broad.mit.edu	37	2	141946119	141946119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:141946119C>T	uc002tvj.1	-	6	1856	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	295					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)		ATAGAGATTTCGAGTGAGCCA	0.408000										TSP Lung(27;0.18)				40			23		0	0	0.00278032	0	0
GPR115	221393	broad.mit.edu	37	6	47681990	47681990	+	Missense_Mutation	SNP	G	A	A	rs116696585	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:47681990G>A	uc003oyz.1	+	6	1180	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	GPR115_uc003oza.1_Missense_Mutation_p.E337K|GPR115_uc003ozb.1_Missense_Mutation_p.E337K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	337	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E337>?(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACTCACCTTCGAAAAGATCAA	0.453000														48			49		0	0	0.00361006	0	0
SPEG	10290	broad.mit.edu	37	2	220354580	220354580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:220354580G>A	uc010fwg.3	+	35	8840	c.8840G>A	c.(8839-8841)cGa>cAa	p.R2947Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2947	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)		AGCAGTCCCCGAAGCTCTCCC	0.657000														14			21		0	0	0.00278032	0	0
MYT1L	23040	broad.mit.edu	37	2	1926499	1926499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1926499C>T	uc002qxe.3	-	9	1869	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	MYT1L_uc002qxd.3_Missense_Mutation_p.E348K|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	348					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGATTCCTCTCCTGCGGGTTG	0.572000														19			27		0	0	0.00106085	0	0
PRKDC	5591	broad.mit.edu	37	8	48839794	48839794	+	Silent	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:48839794G>T	uc003xqi.3	-	20	2436	c.2379C>A	c.(2377-2379)ctC>ctA	p.L793L	PRKDC_uc003xqj.3_Silent_p.L793L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	793					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGGCAGGGGAGAATGTCTT	0.388000								Non-homologous end-joining						30			14		3.35478e-16	9.80226e-16	0.00316338	1	0
MAP4K5	11183	broad.mit.edu	37	14	50912825	50912825	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:50912825C>G	uc001wya.3	-	16	1477	c.1157G>C	c.(1156-1158)cGt>cCt	p.R386P	MAP4K5_uc001wyb.3_Missense_Mutation_p.R386P|MAP4K5_uc010anv.1_Missense_Mutation_p.R386P|MAP4K5_uc001wyc.1_Missense_Mutation_p.R60P	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 1, mRNA.	386					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R386H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGGTATTGCACGTTTTGAGGT	0.284000														22			13		0	0	0.000566183	0	0
MAP3K6	9064	broad.mit.edu	37	1	27688716	27688716	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:27688716G>A	uc001bny.1	-	8	1530	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	MAP3K6_uc009vsw.1_Silent_p.A419A|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	427					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCTTTGCGGGCCAGCAGGC	0.627000														34			9		0	0	0.00136819	0	0
PAPD7	11044	broad.mit.edu	37	5	6753029	6753029	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:6753029T>C	uc003jdx.1	+	11	1442	c.1313T>C	c.(1312-1314)gTt>gCt	p.V438A	PAPD7_uc011cmn.2_Missense_Mutation_p.V438A|PAPD7_uc010itl.1_Missense_Mutation_p.V258A	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	438					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTTGCTCCTGTTCCTTGCAGA	0.547000														10			67		0	0	0.00361006	0	0
PODN	127435	broad.mit.edu	37	1	53546448	53546448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:53546448C>T	uc001cuv.3	+	8	1873	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	PODN_uc010onr.2_Missense_Mutation_p.P550S|PODN_uc010ons.2_Missense_Mutation_p.P427S|PODN_uc001cuw.3_Missense_Mutation_p.P550S	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	521					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGAGGGGCTCCCCGAGTCACT	0.582000														39			9		0	0	0.000274275	0	0
RTTN	25914	broad.mit.edu	37	18	67833372	67833372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:67833372G>A	uc002lkp.2	-	13	1923	c.1855C>T	c.(1855-1857)Ctt>Ttt	p.L619F	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	619							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATATGGAGAAGCACCTTCTGA	0.433000														14			26		0	0	0.000878237	0	0
C15orf63	25764	broad.mit.edu	37	15	44092774	44092774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:44092774G>A	uc001ztb.3	+	2	599	c.116G>A	c.(115-117)gGa>gAa	p.G39E	ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_5'UTR|C15orf63_uc021skf.1_5'UTR|C15orf63_uc001ztg.1_5'UTR	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN	Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(1)|ovary(1)	3						TCAGTTGCCGGAAGTCGGCGT	0.627000														12			9		0	0	0.000442599	0	0
KIF18B	146909	broad.mit.edu	37	17	43003827	43003827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:43003827G>A	uc010wji.2	-	14	2517	c.2416C>T	c.(2416-2418)Ccc>Tcc	p.P806S	KIF18B_uc002iht.3_Missense_Mutation_p.P815S|KIF18B_uc010wjh.2_Missense_Mutation_p.P803S	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGCTGCTGGGGAGGCGGGCG	0.622000														3			9		0	0	0.00136819	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809238	48809238	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:48809238A>T	uc002rwp.2	+	1	1580	c.1466A>T	c.(1465-1467)aAg>aTg	p.K489M	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.K489M|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.K489M|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.K489M|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.K489M	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	489					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTTTCATAAGTGTGTGAAT	0.378000														55			18		0	0	0.00074312	0	0
ZNF496	84838	broad.mit.edu	37	1	247464520	247464520	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247464520G>A	uc009xgv.3	-	7	1210	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF496_uc001ico.3_Silent_p.I355I	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	355					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGAGAGAACGATCTCGATGG	0.627000														78			18		0	0	0.00121646	0	0
GRIA4	2893	broad.mit.edu	37	11	105789611	105789611	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:105789611C>T	uc001pix.2	+	10	1889	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	GRIA4_uc001piw.2_Silent_p.I481I	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	481					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACACAAAAATCTGGAATGGGA	0.368000														2			20		0	0	0.00278032	0	0
SPPL2A	84888	broad.mit.edu	37	15	51012216	51012216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:51012216G>A	uc001zyv.3	-	13	1589	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	470						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AAGTGTGCAAGGTACTAAATA	0.413000														32			38		0	0	0.00148497	0	0
SBSPON	157869	broad.mit.edu	37	8	73982117	73982117	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:73982117C>T	uc003xzf.3	-	3	805	c.600G>A	c.(598-600)acG>acA	p.T200T		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	200					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										CCACACACACCGTGTATCCCT	0.488000														22			34		0	0	0.00375469	0	0
ZNF462	58499	broad.mit.edu	37	9	109694806	109694806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:109694806C>T	uc004bcz.3	+	4	6381	c.6092C>T	c.(6091-6093)tCg>tTg	p.S2031L	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.S1940L|ZNF462_uc004bda.3_Missense_Mutation_p.S1939L|ZNF462_uc011lvz.2_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2031					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGTATTGCTCGTTTGTTTCT	0.522000														1			31		0	0	0.00375469	0	0
TBX18	9096	broad.mit.edu	37	6	85470044	85470044	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:85470044G>A	uc003pkl.1	-	2	528	c.528C>T	c.(526-528)atC>atT	p.I176I	TBX18_uc010kbq.2_Silent_p.I18I	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	176					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTAATCCAGAGATCTTCACTC	0.393000														5			19		0	0	0.00188189	0	0
FAM75E1	286234	broad.mit.edu	37	9	90499983	90499983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:90499983C>T	uc004app.4	+	3	616	c.581C>T	c.(580-582)cCc>cTc	p.P194L	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	194	Pro-rich.					integral to membrane											CCACCAGCTCCCCCAGCTCCT	0.637000														10			40		0	0	0.0025221	0	0
SOGA1	140710	broad.mit.edu	37	20	35422902	35422902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:35422902G>A	uc021wcx.1	-	13	3923	c.3583C>T	c.(3583-3585)Cct>Tct	p.P1195S	SOGA1_uc002xgd.1_Missense_Mutation_p.P957S|SOGA1_uc021wcy.1_Missense_Mutation_p.P86S	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	957										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCAAAGGCAGGGTTGTTAGGC	0.557000														157			50		0	0	0.00361006	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897272	182897272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:182897272C>T	uc003fli.1	-	29	3331	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	1081					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCGCGCTCCTCCTCGGTGCTG	0.687000														9			12		0	0	0.000978159	0	0
VRK3	51231	broad.mit.edu	37	19	50492947	50492947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50492947G>A	uc002prg.2	-	10	1143	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	VRK3_uc002prh.1_Missense_Mutation_p.P349S|VRK3_uc002pri.1_Missense_Mutation_p.P299S|VRK3_uc010ens.2_Missense_Mutation_p.P349S|VRK3_uc010ybl.1_Missense_Mutation_p.P299S|VRK3_uc010ybm.1_Missense_Mutation_p.P118S|VRK3_uc002prk.2_Missense_Mutation_p.P349S|VRK3_uc010ent.2_Missense_Mutation_p.P105S|VRK3_uc002prl.3_Missense_Mutation_p.P349S|VRK3_uc010ybn.1_3'UTR	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	349	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CCCTCGTGAGGGCTCCTGCTG	0.572000														48			13		0	0	0.00185496	0	0
KIFC2	90990	broad.mit.edu	37	8	145692696	145692697	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145692696_145692697CC>TT	uc003zcz.3	+	3	506_507	c.441_442CC>TT	c.(439-444)gcccct>gcTTct	p.P148S	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	148					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTCAGCCAGCCCCTCGGGTCCG	0.624000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			104		0	0	6.4e-05	0	0
CHIA	27159	broad.mit.edu	37	1	111861282	111861282	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:111861282G>A	uc001eas.3	+	8	1054	c.897G>A	c.(895-897)ggG>ggA	p.G299G	CHIA_uc001ear.3_Silent_p.G191G|CHIA_uc001eaq.3_Silent_p.G191G|CHIA_uc009wgc.3_Silent_p.G191G|CHIA_uc001eat.3_Silent_p.G138G|CHIA_uc001eav.3_Silent_p.G138G|CHIA_uc001eau.3_Silent_p.G138G|CHIA_uc009wgd.3_Silent_p.G138G	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	299					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)		AGGAGTCTGGGATCTGGGCTT	0.517000														117			23		0	0	0.00278032	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46057967	46057967	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:46057967C>T	uc010wlc.2	+	11	1270	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	CDK5RAP3_uc002imq.1_Silent_p.I137I|CDK5RAP3_uc002imr.3_Silent_p.I362I|CDK5RAP3_uc002ims.3_Silent_p.I275I	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	362					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGCTTGAGATCTTCTTAGCCC	0.547000														175			65		0	0	0.00361006	0	0
PTPN22	26191	broad.mit.edu	37	1	114380814	114380814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:114380814G>A	uc001eds.3	-	12	1338	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L	PTPN22_uc021orx.1_Missense_Mutation_p.P403L|PTPN22_uc009wgq.3_Missense_Mutation_p.P348L|PTPN22_uc021ory.1_Missense_Mutation_p.P379L|PTPN22_uc010owo.2_Missense_Mutation_p.P159L|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P403L|PTPN22_uc009wgs.2_Missense_Mutation_p.P276L|PTPN22_uc001edu.2_Missense_Mutation_p.P403L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	403					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACTATTGGAAATGCCTT	0.403000														62			17		0	0	0.000566183	0	0
ACE2	59272	broad.mit.edu	37	X	15610379	15610379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:15610379G>A	uc004cxa.1	-	2	580	c.412C>T	c.(412-414)Cca>Tca	p.P138S	ACE2_uc004cxb.2_Missense_Mutation_p.P138S	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	138					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CATTCTTGTGGATTATCTGGG	0.294000														6			126		0	0	0.00361006	0	0
SFSWAP	6433	broad.mit.edu	37	12	132209997	132209997	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:132209997C>T	uc001uja.1	+	4	794	c.654C>T	c.(652-654)ttC>ttT	p.F218F	SFSWAP_uc010tbn.1_Silent_p.F218F|SFSWAP_uc001ujb.1_Silent_p.F11F|SFSWAP_uc001uiz.1_Silent_p.F92F	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	218					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CGGCCAGCTTCGTGTGCAGGC	0.562000														46			15		0	0	0.00121646	0	0
SCN11A	11280	broad.mit.edu	37	3	38961481	38961481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38961481C>T	uc021wvy.1	-	6	1103	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	302					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTTCTTTTCAAAGCAATGG	0.333000														59			16		0	0	0.000958276	0	0
ODZ3	55714	broad.mit.edu	37	4	183650332	183650332	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:183650332G>A	uc003ivd.1	+	12	2658	c.2583G>A	c.(2581-2583)aaG>aaA	p.K861K	ODZ3_uc003ive.1_Silent_p.K267K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	861					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTTTCAATAAGAGGTTAATGC	0.378000														3			18		0	0	0.00074312	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160295	160295	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrGL000192.1:160295C>T	uc010yih.1	-	11		c.2127G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				TCTTAAACTTCTGGGCCAGTT	0.542000														120			10		0	0	0.00152264	0	0
PSD2	84249	broad.mit.edu	37	5	139189215	139189215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:139189215C>T	uc003leu.1	+	1	395	c.190C>T	c.(190-192)Cca>Tca	p.P64S		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	64					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAAGGACCCAGATGTGGC	0.627000														48			21		0	0	0.00332997	0	0
FRAS1	80144	broad.mit.edu	37	4	79432514	79432514	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:79432514C>T	uc003hlb.2	+	63	10307	c.9867C>T	c.(9865-9867)ccC>ccT	p.P3289P	FRAS1_uc003hlc.1_Silent_p.P291P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3284					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGGGACCCCCTTAAGGAGCA	0.547000														39			24		0	0	0.000878237	0	0
OR1L6	392390	broad.mit.edu	37	9	125512186	125512186	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:125512186C>T	uc022bna.1	+	0	60	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCCTCTCTTCCAACCCTCAGC	0.542000														15			74		0	0	0.00361006	0	0
KRT16	3868	broad.mit.edu	37	17	39768789	39768789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:39768789G>A	uc002hxg.4	-	0	291	c.152C>T	c.(151-153)tCt>tTt	p.S51F	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.S51F	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	51	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGAGGAGACAGACAGGCCGCC	0.716000														2			8		0	0	0.00307968	0	0
ACE	1636	broad.mit.edu	37	17	61566478	61566478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:61566478C>T	uc002jau.2	+	16	2660	c.2626C>T	c.(2626-2628)Cct>Tct	p.P876S	ACE_uc010wpj.2_Missense_Mutation_p.P302S|ACE_uc010ddv.2_Missense_Mutation_p.P103S|ACE_uc002jav.2_Missense_Mutation_p.P302S|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Intron	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	876	Peptidase M2 2.				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)	GGGGCCCATTCCTGCTCACCT	0.632000														4			26		0	0	0.00332997	0	0
MYLK3	91807	broad.mit.edu	37	16	46781861	46781861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:46781861G>A	uc002eei.4	-	0	361	c.245C>T	c.(244-246)cCc>cTc	p.P82L	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	82					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTCAATGTGGGGAACCCCATC	0.706000														19			7		0	0	0.00198382	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713516	222713516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:222713516C>T	uc001hnh.1	-	3	1344	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	429					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GATGGGGTCCCCTCGGTCCAC	0.577000														164			238		0	0	0.00361006	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650568	51650568	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51650568C>T	uc002pvv.1	+	5	1284	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	SIGLEC7_uc002pvw.1_Silent_p.A312A|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	405					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)		GGGGCTCAGCCTCTCAGGTGA	0.552000														27			8		0	0	0.000274275	0	0
SPDYE6	729597	broad.mit.edu	37	7	101988921	101988921	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:101988921G>T	uc011kkp.2	-	5	1373	c.952C>A	c.(952-954)Cgt>Agt	p.R318S	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	318	Arg-rich.																TTCGTGGAACGGTATAACTGG	0.572000														485			15		0.00152264	0.00439024	0.00152264	1	0
SNAP47	116841	broad.mit.edu	37	1	227935648	227935648	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:227935648C>T	uc001hrf.2	+	1	760	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Silent_p.L116L|SNAP47_uc001hre.3_Intron	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	116						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATCACCATCCTGGAGAAGGG	0.532000														90			44		0	0	0.00361006	0	0
DLL4	54567	broad.mit.edu	37	15	41224579	41224580	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:41224579_41224580GG>AA	uc001zng.2	+	5	1120_1121	c.784_785GG>AA	c.(784-786)ggc>AAc	p.G262N		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	262	EGF-like 2.				Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGTCGCCACGGCACCTGCAGC	0.614000														70			66		0	0	6.4e-05	0	0
EPHA1	2041	broad.mit.edu	37	7	143095808	143095808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143095808C>T	uc003wcz.3	-	5	1309	c.1222G>A	c.(1222-1224)Ggc>Agc	p.G408S		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	408	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTTCAAGGCCATTGACATGC	0.632000														61			35		0	0	0.000953801	0	0
MICALCL	84953	broad.mit.edu	37	11	12315811	12315811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:12315811G>A	uc001mkg.1	+	2	1124	c.833G>A	c.(832-834)cGa>cAa	p.R278Q		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	278					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AATGCCATCCGAAGGTCTCTA	0.607000														21			34		0	0	0.00283554	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500135	48500135	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:48500135C>T	uc001zwn.4	+	1	435	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.3_Silent_p.F73F|SLC12A1_uc010uex.2_Silent_p.F73F	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	73					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGACAATTTCCTCCAAAGTG	0.428000														45			47		0	0	0.00285205	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628282	173628282	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:173628282C>T	uc001gja.1	-	1	337	c.276G>A	c.(274-276)gtG>gtA	p.V92V	ANKRD45_uc001gjb.4_Silent_p.V92V	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	108										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AAGCTCTAATCACGTCACTTT	0.398000														52			65		0	0	0.00361006	0	0
MYH6	4624	broad.mit.edu	37	14	23870134	23870134	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:23870134C>T	uc001wjv.3	-	12	1265	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	MYH6_uc010akp.2_Silent_p.K398K	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	398	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCACAGCCCCTTGAGCAGGT	0.547000														31			14		0	0	0.000422831	0	0
RNASEL	6041	broad.mit.edu	37	1	182544549	182544549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:182544549C>T	uc009wxz.2	-	6	2461	c.2204G>A	c.(2203-2205)gGg>gAg	p.G735E		NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	735					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity	p.G735W(1)|p.S734I(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCTGGCCAACCCACTGGCCCC	0.483000														86			26		0	0	0.00209593	0	0
GCN1L1	10985	broad.mit.edu	37	12	120586048	120586048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:120586048G>A	uc001txo.3	-	36	4662	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1550					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGACATGGGAGTCGGTCAG	0.582000														21			34		0	0	0.00128727	0	0
VWA3B	200403	broad.mit.edu	37	2	98709692	98709692	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:98709692A>G	uc002syo.3	+	1	401	c.137A>G	c.(136-138)aAg>aGg	p.K46R	VWA3B_uc010yvh.2_5'UTR|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.K46R|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	46										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATGGGCTTAAGAGCAACAAA	0.453000														43			43		0	0	0.0025221	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148074	1148074	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:1148074G>A	uc001adf.3	-	2	991	c.393C>T	c.(391-393)ccC>ccT	p.P131P	TNFRSF4_uc001ade.3_Silent_p.P127P			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	127					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity	p.P130P(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAGGGCAGGGGGCACAGT	0.706000														0			7		0	0	0.000274275	0	0
MARCO	8685	broad.mit.edu	37	2	119699879	119699879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:119699879G>A	uc002tln.1	+	0	135	c.3G>A	c.(1-3)atG>atA	p.M1I	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	1					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTTGGCAATGAGAAATAAGA	0.458000														17			17		0	0	0.000422831	0	0
PSMC3	5702	broad.mit.edu	37	11	47444385	47444385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:47444385G>A	uc001nfh.2	-	6	925	c.731C>T	c.(730-732)aCt>aTt	p.T244I		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	244					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACTCACCTTAGTCTGTGCGGC	0.587000														103			53		0	0	0.00361006	0	0
MIP	4284	broad.mit.edu	37	12	56848172	56848172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56848172G>A	uc001slh.3	-	0	264	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	76					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GAGCCCACAAGGAAAGCAAAA	0.602000														22			23		0	0	0.00278032	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667799	49667799	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:49667799A>T	uc001jgu.3	-	4	932	c.635T>A	c.(634-636)aTg>aAg	p.M212K	ARHGAP22_uc001jgs.3_Missense_Mutation_p.M106K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.M196K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.M153K|ARHGAP22_uc010qgm.2_Missense_Mutation_p.M202K|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	196	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.D211D(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGCCTGGCATGCGGAACAG	0.642000														45			66		0	0	0.00361006	0	0
MORC1	27136	broad.mit.edu	37	3	108813765	108813765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108813765C>T	uc003dxl.3	-	6	661	c.574G>A	c.(574-576)Gga>Aga	p.G192R	MORC1_uc011bhn.2_Missense_Mutation_p.G192R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	192					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCACATTTTCCATAGATCACA	0.308000														20			19		0	0	0.00229938	0	0
KIF26A	26153	broad.mit.edu	37	14	104643572	104643572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:104643572G>A	uc001yos.4	+	11	4447	c.4447G>A	c.(4447-4449)Ggc>Agc	p.G1483S		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1483					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGTAGGAGCGGCGCAGCCAA	0.726000														8			12		0	0	0.00244969	0	0
OR6V1	346517	broad.mit.edu	37	7	142749553	142749553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142749553G>A	uc011ksv.2	+	0	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G39G(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCTTCATGGGAAACACCATC	0.502000														190			50		0	0	0.00361006	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458235	53458236	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:53458235_53458236GG>AA	uc001jjp.3	-	0	1120_1121	c.1074_1075CC>TT	c.(1072-1077)ccccat>ccTTat	p.H359Y	PRKG1_uc001jjm.3_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.3_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant (CSTF2T), mRNA.	359	Gly-rich.				mRNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGACCCTGATGGGGTGGACCCA	0.559000														29			36		0	0	6.4e-05	0	0
MYO5B	4645	broad.mit.edu	37	18	47463690	47463690	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:47463690C>T	uc002leb.2	-	14	2118	c.1830G>A	c.(1828-1830)tcG>tcA	p.S610S	MYO5B_uc021ukb.1_Silent_p.S609S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	610	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGCTGATCTTCGAAGATGACC	0.532000														61			33		0	0	0.00375469	0	0
ROS1	6098	broad.mit.edu	37	6	117730773	117730773	+	Silent	SNP	C	T	T	rs149736013		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:117730773C>T	uc003pxp.1	-	3	460	c.261G>A	c.(259-261)gcG>gcA	p.A87A	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	87					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGCACCTTCCGCGCTGCTAC	0.473000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									6			39		0	0	0.00361006	0	0
OR2H2	7932	broad.mit.edu	37	6	29556177	29556177	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29556177G>A	uc003nmr.1	+	0	495	c.456G>A	c.(454-456)gtG>gtA	p.V152V	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	152					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGGGCTAGTGGAGTCAGTGG	0.602000														65			56		0	0	0.00361006	0	0
ZG16B	124220	broad.mit.edu	37	16	2881806	2881806	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:2881806G>A	uc002cru.3	+	3	349	c.273G>A	c.(271-273)gtG>gtA	p.V91V		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	91						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GTGTCCAGGTGAAACTTGGAG	0.582000														30			31		0	0	0.00178596	0	0
OR7G3	390883	broad.mit.edu	37	19	9237262	9237262	+	Missense_Mutation	SNP	C	T	T	rs144765135		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9237262C>T	uc010xkl.2	-	0	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGCCACAAATCGATCATAGGC	0.473000														61			31		0	0	0.00283554	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168705	60168705	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:60168705A>G	uc001sqs.3	+	4	928	c.629A>G	c.(628-630)aAg>aGg	p.K210R	SLC16A7_uc001sqt.3_Missense_Mutation_p.K210R|SLC16A7_uc001squ.3_Missense_Mutation_p.K210R|SLC16A7_uc009zqi.3_Missense_Mutation_p.K111R|SLC16A7_uc010ssi.2_Missense_Mutation_p.K111R	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	210						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TCTAAAAATAAGACTGGCAAA	0.378000														24			17		0	0	0.000422831	0	0
GART	2618	broad.mit.edu	37	21	34897104	34897104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:34897104G>A	uc002yrz.3	-	10	1581	c.1270C>T	c.(1270-1272)Cgt>Tgt	p.R424C	GART_uc002yrx.3_Missense_Mutation_p.R424C|GART_uc010gmd.3_Missense_Mutation_p.R86C|GART_uc002yry.3_Missense_Mutation_p.R424C|GART_uc002ysa.2_Missense_Mutation_p.R424C	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	424					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCTATGGCACGAAAGCCGACG	0.448000														31			53		0	0	0.00361006	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559618	140559618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140559618C>T	uc011dai.2	+	0	2248	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	668	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCTTCTCCCAGCCCTAC	0.687000														26			29		0	0	0.00209593	0	0
SAMD7	344658	broad.mit.edu	37	3	169644765	169644765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:169644765G>A	uc003fgd.3	+	5	982	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	SAMD7_uc003fge.3_Missense_Mutation_p.E239K|SAMD7_uc011bpo.2_Missense_Mutation_p.E140K	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	239										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAAGTCAAGTGAAACGAATGA	0.493000														51			22		0	0	0.00278032	0	0
ZNF583	147949	broad.mit.edu	37	19	56935651	56935651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56935651C>T	uc010ygl.1	+	4	1789	c.1624C>T	c.(1624-1626)Cat>Tat	p.H542Y	ZNF583_uc002qnc.2_Missense_Mutation_p.H542Y|ZNF583_uc010ygm.1_Missense_Mutation_p.H542Y	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGAGAGAATTCATactatgga	0.418000														62			10		0	0	0.000978159	0	0
TTF1	7270	broad.mit.edu	37	9	135254449	135254449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:135254449G>A	uc004cbl.3	-	9	2530	c.2461C>T	c.(2461-2463)Cca>Tca	p.P821S	TTF1_uc004cbm.3_Missense_Mutation_p.P306S|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	821					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TACTAACCTGGAAAAGTCTTT	0.383000														16			50		0	0	0.00361006	0	0
DSC1	1823	broad.mit.edu	37	18	28725576	28725576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:28725576C>T	uc002kwn.3	-	6	1199	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	DSC1_uc002kwm.3_Missense_Mutation_p.E313K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	313	Cadherin 2.				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)			ATCATTACTTCTCTATCCAGA	0.383000														34			23		0	0	0.00278032	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76481971	76481971	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:76481971C>T	uc002fex.1	+	3	749	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	CNTNAP4_uc002feu.1_Silent_p.L200L|CNTNAP4_uc002fev.1_Silent_p.L113L|CNTNAP4_uc010chb.1_Silent_p.L176L|CNTNAP4_uc002few.2_Silent_p.L176L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	201					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCAAAAATCCCTGAGCCCAAT	0.383000														26			47		0	0	0.00361006	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464991	110464991	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:110464991C>T	uc003yne.3	+	42	6656	c.6552C>T	c.(6550-6552)ttC>ttT	p.F2184F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2184	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTCCAATTTCTCATGGGGGG	0.383000										HNSCC(38;0.096)				10			8		0	0	0.000274275	0	0
C15orf55	256646	broad.mit.edu	37	15	34649428	34649428	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34649428T>C	uc010ucc.2	+	7	3601	c.3219T>C	c.(3217-3219)ggT>ggC	p.G1073G	C15orf55_uc010ucd.2_Silent_p.G1063G|C15orf55_uc001zif.3_Silent_p.G1045G	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	1045						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCTCAGGAGGTCAGGGCAGCC	0.557000			T	"""BRD3, BRD4"""	lethal midline carcinoma									63			12		0	0	0.00136819	0	0
NBEAP1	606	broad.mit.edu	37	15	20876510	20876510	+	Silent	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:20876510A>G	uc010tze.1	-	1	310	c.103T>C	c.(103-105)Ttg>Ctg	p.L35L	NBEAP1_uc010tzd.2_Non-coding_Transcript					Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																		TGCTTCAGCAAAGGTACTCCA	0.333000														110			11		0	0	0.000673444	0	0
PSD4	23550	broad.mit.edu	37	2	113943598	113943598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:113943598C>T	uc002tjc.3	+	4	1577	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	PSD4_uc002tjd.3_Missense_Mutation_p.S86F|PSD4_uc002tje.3_Missense_Mutation_p.S436F|PSD4_uc002tjf.3_Missense_Mutation_p.S86F	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	465					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCATCGTCCCAGGAGGGC	0.612000														35			27		0	0	0.00106085	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267682	71267682	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:71267682G>A	uc001xmm.3	-	1	522	c.522C>T	c.(520-522)cgC>cgT	p.R174R	MAP3K9_uc001xml.3_Silent_p.R174R	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	174	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGGGTCGTGGCGAGCTGCTT	0.537000														68			27		0	0	0.00106085	0	0
ADCY3	109	broad.mit.edu	37	2	25141596	25141596	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:25141596G>A	uc010ykm.2	-	0	460	c.261C>T	c.(259-261)ctC>ctT	p.L87L	ADCY3_uc002rfs.4_Silent_p.L87L	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	87					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCAGTCAAAGAGGGCTGCAA	0.577000														27			55		0	0	0.00361006	0	0
OR5H1	26341	broad.mit.edu	37	3	97852246	97852246	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:97852246G>A	uc011bgt.2	+	0	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V234L(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AAGGTGTAAGGAAAGCCTTTT	0.408000														54			66		0	0	0.00361006	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582477	136582477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:136582477C>T	uc003qgx.1	-	11	2936	c.2683G>A	c.(2683-2685)Gat>Aat	p.D895N	BCLAF1_uc011edb.1_Missense_Mutation_p.D174N|BCLAF1_uc003qgy.1_Missense_Mutation_p.D844N|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.D893N|BCLAF1_uc003qgw.1_Missense_Mutation_p.D722N	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	895					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)		ACAATCCCATCCCCTTGGTAT	0.403000														196			19		0	0	0.00188189	0	0
PEX26	55670	broad.mit.edu	37	22	18561251	18561251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:18561251C>T	uc002znp.4	+	1	318	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	PEX26_uc002znt.3_Missense_Mutation_p.L37F|PEX26_uc002znq.4_Missense_Mutation_p.L37F|Em:AC008101.5_uc002zns.3_Missense_Mutation_p.R91K	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	Homo sapiens peroxisomal biogenesis factor 26 (PEX26), transcript variant 1, mRNA.	37					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ggccgTGGACCTTCTGGAGGA	0.751000														5			3		0	0	6.4e-05	0	0
HYAL4	23553	broad.mit.edu	37	7	123508568	123508568	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:123508568A>G	uc003vlc.3	+	2	879	c.241A>G	c.(241-243)Aag>Gag	p.K81E	HYAL4_uc011knz.2_Missense_Mutation_p.K81E	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	81					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCACTGGCCAAGGCCAGGGG	0.403000														35			81		0	0	0.00361006	0	0
OR9G9	390174	broad.mit.edu	37	11	56468464	56468464	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56468464C>T	uc010rjn.2	+	0	601	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GATGTACTTCCTGCTGGCCTC	0.512000														102			17		0	0	0.00127121	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161431	123161431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:123161431C>T	uc003ieh.3	+	26	4639	c.4594C>T	c.(4594-4596)Cgt>Tgt	p.R1532C	KIAA1109_uc003iei.1_Missense_Mutation_p.R1285C|KIAA1109_uc010ins.1_Missense_Mutation_p.R875C|KIAA1109_uc003iek.2_Missense_Mutation_p.R151C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1532					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCATTGCATCGTCCCCTTGA	0.383000														23			31		0	0	0.00209593	0	0
OR10K2	391107	broad.mit.edu	37	1	158389856	158389856	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158389856G>A	uc010pii.2	-	0	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CCTGGCTTGAGGAGTAGTTGG	0.403000														24			51		0	0	0.00361006	0	0
REG3G	130120	broad.mit.edu	37	2	79254218	79254218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:79254218G>A	uc002snw.3	+	3	339	c.254G>A	c.(253-255)gGa>gAa	p.G85E	REG3G_uc002snx.3_Missense_Mutation_p.G85E|REG3G_uc010ffu.3_Intron	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	85	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGCTGAGGGATCCTTCGTG	0.552000														56			60		0	0	0.00361006	0	0
PRB3	5544	broad.mit.edu	37	12	11420704	11420704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:11420704C>T	uc001qzs.3	-	2	517	c.479G>A	c.(478-480)gGa>gAa	p.G160E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	160	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCCGGACGAGG	0.642000														43			63		0	0	0.00361006	0	0
FAM209B	388799	broad.mit.edu	37	20	55111389	55111389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:55111389G>A	uc010zzh.2	+	1	491	c.411G>A	c.(409-411)atG>atA	p.M137I	FAM209B_uc002xxz.3_Missense_Mutation_p.M137I	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA.	137						integral to membrane											AAGGTGCCATGGCAACAGGCA	0.423000														57			68		0	0	0.00361006	0	0
SUGP2	10147	broad.mit.edu	37	19	19115180	19115180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:19115180G>A	uc002nkz.1	-	6	2788	c.2768C>T	c.(2767-2769)cCt>cTt	p.P923L	SUGP2_uc002nkx.2_Missense_Mutation_p.P909L|SUGP2_uc002nla.1_Missense_Mutation_p.P909L|SUGP2_uc002nlb.2_Missense_Mutation_p.P909L|SUGP2_uc010xqk.1_Missense_Mutation_p.P678L	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	909					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCCCCTCCAGGAGCGGGGGc	0.711000														10			7		0	0	0.00307968	0	0
MUC16	94025	broad.mit.edu	37	19	9070567	9070567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9070567C>T	uc002mkp.3	-	2	17083	c.16879G>A	c.(16879-16881)Gaa>Aaa	p.E5627K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5629	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						GAGCTGGTTTCTTCCACAGGG	0.532000														12			16		0	0	0.000422831	0	0
AV8S2	0	broad.mit.edu	37	14	22386477	22386477	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:22386477G>A	uc001wch.2	+	0	126	c.48G>A	c.(46-48)ctG>ctA	p.L16L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|AV8S2_uc010aiy.2_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7.																		GGCTGCAGCTGGACTGTAAGT	0.408000														45			68		0	0	0.00361006	0	0
FAM129C	199786	broad.mit.edu	37	19	17654161	17654161	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:17654161G>A	uc021uqj.1	+	11	1596	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	FAM129C_uc021uqi.1_Silent_p.L486L|FAM129C_uc002ngy.4_Silent_p.L212L|FAM129C_uc010xpu.2_Silent_p.L212L|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Silent_p.L212L|FAM129C_uc002nhb.3_Silent_p.L85L	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	486										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TCCTGCAGCTGGCTGACCAGT	0.642000														71			32		0	0	0.0024448	0	0
TIGD5	84948	broad.mit.edu	37	8	144681846	144681846	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:144681846C>T	uc003yyx.2	+	0	1773	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	591					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCGGGGAGGCCGTGCGGGGGC	0.682000														12			18		0	0	0.00152264	0	0
LRFN3	79414	broad.mit.edu	37	19	36431365	36431365	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36431365C>T	uc002oco.3	+	1	1490	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	346	Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCGCGCCTTCCCCAATGGGA	0.692000														9			10		0	0	0.00136819	0	0
FGR	2268	broad.mit.edu	37	1	27949630	27949630	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:27949630G>A	uc001boj.3	-	1	398	c.252C>T	c.(250-252)gcC>gcT	p.A84A	FGR_uc001bok.3_Silent_p.A84A|FGR_uc001bol.3_Silent_p.A84A|FGR_uc001bom.3_Silent_p.A84A	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	84	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGTCATACAGGGCAATGAACA	0.557000														51			9		0	0	0.000673444	0	0
SLC29A1	2030	broad.mit.edu	37	6	44199741	44199741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:44199741G>A	uc003oww.1	+	10	1300	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	SLC29A1_uc003owu.1_Missense_Mutation_p.V291I|SLC29A1_uc003owv.1_Missense_Mutation_p.V291I|SLC29A1_uc003owx.1_Missense_Mutation_p.V291I|SLC29A1_uc003owy.1_Missense_Mutation_p.V291I|SLC29A1_uc003owz.1_Missense_Mutation_p.V291I	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	291					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	p.V370G(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CTAGATCTCAGTCCTGGCTTT	0.527000														33			24		0	0	0.00332997	0	0
DNAH7	56171	broad.mit.edu	37	2	196774785	196774785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:196774785C>T	uc002utj.4	-	24	4171	c.4070G>A	c.(4069-4071)gGg>gAg	p.G1357E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1357	AAA 1 (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						ATAATCCAACCCATCAGAGCA	0.408000														37			15		0	0	0.00244969	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19713846	19713846	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:19713846C>T	uc004czm.3	-	4	720	c.404G>A	c.(403-405)tGg>tAg	p.W135*	SH3KBP1_uc004czl.3_Nonsense_Mutation_p.W98*	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	135	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACCTTCCCACCATCCTTCCTC	0.473000														2			36		0	0	0.00375469	0	0
abParts	0	broad.mit.edu	37	14	106733222	106733222	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106733222C>T	uc021ser.1	-	876		c.21324G>A								Parts of antibodies, mostly variable regions.																		TAGATGTGTCCTCGGTCATGG	0.512000														148			59		0	0	0.00361006	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399270	22399270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:22399270G>A	uc001mqk.3	+	11	2146	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	578					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TATAAGGACCGAGTTGATTAT	0.353000														16			10		0	0	0.000673444	0	0
TACO1	51204	broad.mit.edu	37	17	61685212	61685212	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:61685212C>T	uc002jbd.3	+	4	956	c.744C>T	c.(742-744)tcC>tcT	p.S248S		NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN	Homo sapiens translational activator of mitochondrially encoded cytochrome c oxidase I (TACO1), nuclear gene encoding mitochondrial protein, mRNA.	248					regulation of translation	mitochondrion				breast(2)|endometrium(1)|lung(1)	4						AGCTGGACTCCCTGGGCCTGT	0.532000														5			78		0	0	0.00361006	0	0
USP6NL	9712	broad.mit.edu	37	10	11505568	11505568	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:11505568G>A	uc001iks.1	-	13	1453	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	USP6NL_uc001ikt.3_Silent_p.L453L	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	453						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACCCGATGGGAGTTTTCTTT	0.507000														47			60		0	0	0.00361006	0	0
LOC200726	200726	broad.mit.edu	37	2	207509180	207509180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:207509180G>A	uc010fuh.1	+	1	395	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		AGGCTTCTGGGATTTTATGAT	0.493000														12			16		0	0	0.000422831	0	0
RNF103	7844	broad.mit.edu	37	2	86831597	86831597	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:86831597A>T	uc002srn.3	-	3	2418	c.1427T>A	c.(1426-1428)tTt>tAt	p.F476Y	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.F337Y|RNF103_uc021vkg.1_Missense_Mutation_p.F472Y|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	476					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCTACAGGAAAGTTCTGAAA	0.433000														40			36		0	0	0.00283554	0	0
LRRN2	10446	broad.mit.edu	37	1	204588132	204588132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:204588132G>A	uc021phy.1	-	0	989	c.989C>T	c.(988-990)gCc>gTc	p.A330V	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.A330V|LRRN2_uc001hbf.1_Missense_Mutation_p.A330V|LRRN2_uc009xbf.1_Missense_Mutation_p.A330V|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	330					cell adhesion	integral to membrane	receptor activity	p.R329C(2)|p.R329R(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTGGTGGAAGGCGCGGGGGTG	0.607000														10			12		0	0	0.00136819	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140257385	140257385	+	Silent	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140257385T>A	uc003lic.2	+	0	2455	c.2328T>A	c.(2326-2328)ctT>ctA	p.L776L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.L776L	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	779					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAAGCCTTCAGCTGTCTC	0.478000														15			8		0	0	0.000442599	0	0
PGK2	5232	broad.mit.edu	37	6	49754528	49754528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:49754528G>A	uc003ozu.3	-	0	526	c.373C>T	c.(373-375)Cat>Tat	p.H125Y		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	125					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCTCCACATGAAAGCGCAGG	0.512000														61			45		0	0	0.00361006	0	0
LIPI	149998	broad.mit.edu	37	21	15517024	15517024	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:15517024G>A	uc002yjm.3	-	8	1288	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.F375F|LIPI_uc021whh.1_Silent_p.F399F|LIPI_uc021whi.1_Silent_p.F240F|LIPI_uc021whj.1_Intron|LIPI_uc021whe.1_Silent_p.F370F|LIPI_uc021whf.1_Silent_p.F405F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	405					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTGAGCTCTGGAAATATGTCA	0.313000														77			50		0	0	0.00361006	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140780033	140780033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140780033C>T	uc003lkf.2	+	0	2339	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.S780L|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	799					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTGATTCATCTGGGGCC	0.403000														79			97		0	0	0.00361006	0	0
PCLO	27445	broad.mit.edu	37	7	82451921	82451921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82451921C>T	uc003uhx.2	-	19	14970	c.14681G>A	c.(14680-14682)gGa>gAa	p.G4894E	PCLO_uc003uhv.2_Missense_Mutation_p.G4894E|PCLO_uc003uht.1_Missense_Mutation_p.G336E|PCLO_uc003uhu.1_Missense_Mutation_p.G315E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4756					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCGAGATGGTCCATGAGAACG	0.532000														90			284		0	0	0.00361006	0	0
BRCA1	672	broad.mit.edu	37	17	41246107	41246107	+	Silent	SNP	G	A	A	rs80357778		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:41246107G>A	uc002icq.3	-	9	1673	c.1441C>T	c.(1441-1443)Cta>Tta	p.L481L	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Silent_p.L410L|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Silent_p.L434L|BRCA1_uc002ict.3_Silent_p.L481L|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Silent_p.L481L|BRCA1_uc002ide.1_Silent_p.L312L|BRCA1_uc010cyy.1_Silent_p.L481L|BRCA1_uc010whs.1_Silent_p.L481L|BRCA1_uc010cyz.2_Silent_p.L434L|BRCA1_uc010cza.2_Silent_p.L455L|BRCA1_uc010wht.1_Silent_p.L185L	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	481					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|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|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 DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|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	RNA binding|androgen receptor binding|identical protein binding|protein 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)		CCTATAATTAGATTTTCAGTT	0.393000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				100			40		0	0	0.00321405	0	0
ZNF573	126231	broad.mit.edu	37	19	38229581	38229581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38229581G>A	uc002ohe.3	-	4	1879	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	ZNF573_uc010efs.2_Missense_Mutation_p.H517Y|ZNF573_uc002ohd.3_Missense_Mutation_p.H602Y|ZNF573_uc002ohf.3_Missense_Mutation_p.H546Y|ZNF573_uc002ohg.3_Missense_Mutation_p.H516Y|ZNF573_uc021utv.1_Missense_Mutation_p.H516Y	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H546Y(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCACCAGTATGAATTTTCTGA	0.388000														29			23		0	0	0.00278032	0	0
DNAH2	146754	broad.mit.edu	37	17	7662770	7662770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7662770C>T	uc002giu.1	+	14	2493	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	827	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R827W(2)		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)				GTACATGATTCGGCTGGACCG	0.522000														10			77		0	0	0.00361006	0	0
USP37	57695	broad.mit.edu	37	2	219346947	219346947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:219346947G>A	uc010fvs.1	-	16	2094	c.1681C>T	c.(1681-1683)Ctc>Ttc	p.L561F	USP37_uc002vie.2_Missense_Mutation_p.L561F|USP37_uc010zkf.1_Missense_Mutation_p.L561F|USP37_uc002vif.2_Missense_Mutation_p.L561F|USP37_uc002vig.2_Missense_Mutation_p.L489F	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	561					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTCAAATGGAGAATGAGGACC	0.383000														51			19		0	0	0.00229938	0	0
SCML2	10389	broad.mit.edu	37	X	18276309	18276309	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:18276309G>A	uc004cyl.2	-	9	1285	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.I376I|SCML2_uc011miz.1_Silent_p.I310I|SCML2_uc010nfc.2_Silent_p.I112I	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	376					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R375K(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GCAGCTGCTGGATTCTCTTGG	0.483000														5			52		0	0	0.00361006	0	0
DIP2A	23181	broad.mit.edu	37	21	47969774	47969774	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:47969774C>T	uc002zjo.2	+	21	2796	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F	DIP2A_uc011afy.1_Silent_p.F807F|DIP2A_uc011afz.1_Silent_p.F867F|DIP2A_uc002zjn.3_Silent_p.F871F	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	871					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.S871N(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AGGACAGCTTCCAGTGGATGA	0.647000														60			63		0	0	0.00361006	0	0
EHMT2	10919	broad.mit.edu	37	6	31851591	31851591	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31851591G>T	uc003nxz.1	-	21	2918	c.2908C>A	c.(2908-2910)Cac>Aac	p.H970N	EHMT2_uc003nxx.1_Missense_Mutation_p.H168N|EHMT2_uc003nxy.1_Missense_Mutation_p.H768N|EHMT2_uc011don.1_Missense_Mutation_p.H993N|EHMT2_uc003nya.1_Missense_Mutation_p.H936N	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	970					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ACCTGCAGGTGGGTGATGTTG	0.572000														424			12		0.00316338	0.00908231	0.00316338	1	0
SLC5A7	60482	broad.mit.edu	37	2	108604612	108604612	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:108604612A>G	uc002tdv.3	+	1	277	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.M1V|SLC5A7_uc010ywn.2_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	1					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTAGATAAAAATGGCTTTCCA	0.413000														71			14		0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	9008208	9008208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9008208G>A	uc002mkp.3	-	40	39548	c.39344C>T	c.(39343-39345)cCc>cTc	p.P13115L	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13117	SEA 7.				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						CAGGGTGTAGGGGCCCAGCTC	0.547000														80			75		0	0	0.00361006	0	0
CACNA1H	8912	broad.mit.edu	37	16	1245497	1245497	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:1245497G>A	uc002cks.3	+	3	725	c.477G>A	c.(475-477)ggG>ggA	p.G159G	CACNA1H_uc002ckt.3_Silent_p.G159G	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	159					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGGCCTTGGGGCTGTTCGGGC	0.607000														8			6		0	0	0.00198382	0	0
KIAA1274	27143	broad.mit.edu	37	10	72298087	72298087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:72298087G>A	uc001jrd.4	+	11	1656	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	KIAA1274_uc001jre.4_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	459										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						TGCCCACCCTGAGCTGTACCG	0.657000														5			21		0	0	0.000878237	0	0
TP53BP1	7158	broad.mit.edu	37	15	43773106	43773106	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:43773106G>A	uc001zrs.3	-	4	619	c.471C>T	c.(469-471)tcC>tcT	p.S157S	TP53BP1_uc010udp.2_Silent_p.S157S|TP53BP1_uc001zrq.4_Silent_p.S162S|TP53BP1_uc001zrr.4_Silent_p.S162S|TP53BP1_uc010udq.1_Silent_p.S162S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	157					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGCACCAAGGGAATGTGTAG	0.413000								Other conserved DNA damage response genes						35			42		0	0	0.0025221	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969501	140969501	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140969501G>A	uc011mwp.2	+	3	828	c.828G>A	c.(826-828)ctG>ctA	p.L276L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	276	MAGE 1.									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)					ACCGCCTCCTGATTCTTATTC	0.507000														7			44		0	0	0.0025221	0	0
TRPV3	162514	broad.mit.edu	37	17	3424292	3424292	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:3424292G>A	uc002fvr.2	-	13	2107	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Silent_p.I579I|TRPV3_uc010vri.1_Silent_p.I550I|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.I595I|TRPV3_uc010vrj.1_Silent_p.I579I|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Silent_p.I579I|TRPV3_uc002fvu.3_Silent_p.I595I|TRPV3_uc010vrn.1_3'UTR	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	595						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCAAAAACACGATATATACAA	0.328000														6			123		0	0	0.00361006	0	0
LIG1	3978	broad.mit.edu	37	19	48620928	48620929	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:48620928_48620929GG>AA	uc002pia.1	-	25	2669_2670	c.2549_2550CC>TT	c.(2548-2550)tcc>tTT	p.S850F	LIG1_uc010xze.1_Missense_Mutation_p.S543F|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.S782F|LIG1_uc010xzg.1_Missense_Mutation_p.S819F	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	850					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.L849L(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGGAGAGAGGGAGAGGTCAGC	0.658000								Nucleotide excision repair (NER)						16			6		0	0	6.4e-05	0	0
TLE2	7089	broad.mit.edu	37	19	3002402	3002402	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3002402G>A	uc010dth.3	-	17	2262	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*	TLE2_uc010xhb.2_Nonsense_Mutation_p.Q333*|TLE2_uc002lww.3_Nonsense_Mutation_p.Q666*|TLE2_uc010xhc.2_Nonsense_Mutation_p.Q544*|TLE2_uc010dti.3_Nonsense_Mutation_p.Q680*	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	666					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGCAGCTGGTATTTCTCC	0.607000														6			18		0	0	0.00121646	0	0
IQCE	23288	broad.mit.edu	37	7	2638195	2638195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:2638195C>T	uc003sml.1	+	16	1721	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	IQCE_uc010ksm.1_Missense_Mutation_p.P513S|IQCE_uc011jvy.1_Missense_Mutation_p.P497S|IQCE_uc011jvz.1_Missense_Mutation_p.P448S|IQCE_uc003smo.4_Missense_Mutation_p.P513S|IQCE_uc003smk.4_Missense_Mutation_p.P497S|IQCE_uc003smn.4_Missense_Mutation_p.P448S	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	513										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCCCCGCTCCCCCTGCTCTGA	0.706000														35			35		0	0	0.00283554	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010782	85010782	+	Silent	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:85010782C>A	uc010voi.1	-	7	1133	c.780G>T	c.(778-780)ctG>ctT	p.L260L	ZDHHC7_uc002fiq.2_Silent_p.L223L|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	223						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CCTCAAGGCACAGGAAGATCA	0.468000														53			28		1.39806e-14	4.07967e-14	0.001512	1	0
AK302694	0	broad.mit.edu	37	10	30998345	30998345	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:30998345C>T	uc010qdx.1	+	7	1433	c.891C>T	c.(889-891)ccC>ccT	p.P297P						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		GTTCCATGCCCTTCCTGCAGG	0.612000														18			26		0	0	0.00178596	0	0
NDUFB3	4709	broad.mit.edu	37	2	201950311	201950311	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201950311C>T	uc002uwx.4	+	2	593	c.270C>T	c.(268-270)tcC>tcT	p.S90S		NM_002491	NP_002482	O43676	NDUB3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa (NDUFB3), nuclear gene encoding mitochondrial protein, mRNA.	90					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	ACCTGGAGTCCCTGAATAAAG	0.373000														28			33		0	0	0.00222228	0	0
OR10A7	121364	broad.mit.edu	37	12	55615186	55615186	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:55615186C>T	uc010spf.2	+	0	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTGTGGCCATCTGTAACCCTC	0.463000														55			25		0	0	0.00278032	0	0
SGCA	6442	broad.mit.edu	37	17	48244740	48244740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48244740G>A	uc002iqi.3	+	1	85	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	SGCA_uc010wmh.1_5'UTR|SGCA_uc002iqj.3_Missense_Mutation_p.G17R|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	17					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TCTCCTGGCAGGGCTGGGGGA	0.617000														30			23		0	0	0.00395357	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131815	40131815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:40131815C>T	uc001cdq.1	-	1	229	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	77					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACGTACTCCTCCACGCCCTGC	0.587000														65			16		0	0	0.00152264	0	0
FAM55A	120400	broad.mit.edu	37	11	114401269	114401269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:114401269C>T	uc001ppa.3	-	2	452	c.35G>A	c.(34-36)gGa>gAa	p.G12E	FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.G154E	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	154						extracellular region		p.G12G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		CATCACCTTTCCTGAAGCACC	0.572000														6			18		0	0	0.000958276	0	0
MORC1	27136	broad.mit.edu	37	3	108751625	108751625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108751625C>T	uc003dxl.3	-	15	1594	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	MORC1_uc011bhn.2_Missense_Mutation_p.E503K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	503					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCTTTTTCCTGATAATTA	0.289000														37			40		0	0	0.00361006	0	0
OBSCN	84033	broad.mit.edu	37	1	228475871	228475871	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228475871G>A	uc009xez.1	+	36	9965	c.9921G>A	c.(9919-9921)aaG>aaA	p.K3307K	OBSCN_uc001hsn.3_Silent_p.K3307K|OBSCN_uc001hsq.1_Silent_p.K563K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3307	Ig-like 33.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				AGTGGAGAAAGGGGTCCGAGA	0.632000														71			30		0	0	0.00283554	0	0
TNFSF11	8600	broad.mit.edu	37	13	43181040	43181040	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:43181040C>T	uc001uyu.2	+	4	1089	c.940C>T	c.(940-942)Cga>Tga	p.R314*	TNFSF11_uc001uyt.2_Nonsense_Mutation_p.R241*	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	314					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTTTAAAGTTCGAGATATAGA	0.408000														56			20		0	0	0.00121646	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865634	6865634	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:6865634C>T	uc003gjr.4	+	6	3988	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	KIAA0232_uc003gjq.4_Silent_p.F1175F	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1175							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CTGGAAAATTCCTTCCCAGGT	0.413000														26			22		0	0	0.00332997	0	0
SH3BGR	6450	broad.mit.edu	37	21	40823881	40823881	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:40823881G>A	uc002yya.3	+	0	102	c.48G>A	c.(46-48)cgG>cgA	p.R16R	SH3BGR_uc002yxz.3_Intron	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	16					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AGTTGGAGCGGGACTGCCGGA	0.592000														38			26		0	0	0.00395357	0	0
FAM153B	202134	broad.mit.edu	37	5	175530241	175530241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:175530241G>A	uc003mdk.3	+	12	733	c.676G>A	c.(676-678)Gat>Aat	p.D226N	FAM153B_uc021yic.1_Intron	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	226								p.R225M(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TCTGATCAGGGATGTACTTCA	0.502000														193			56		0	0	0.00361006	0	0
CHD9	80205	broad.mit.edu	37	16	53352166	53352166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:53352166C>T	uc002ehb.3	+	35	7791	c.7627C>T	c.(7627-7629)Cgt>Tgt	p.R2543C	CHD9_uc002egy.3_Missense_Mutation_p.R2527C|CHD9_uc002ehc.3_Missense_Mutation_p.R2528C|CHD9_uc002ehf.3_Missense_Mutation_p.R1641C|CHD9_uc002ehg.2_Missense_Mutation_p.R1658C|CHD9_uc010cbw.3_Missense_Mutation_p.R609C	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2543					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R2542I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAAAGACACCGTTGCAGAAA	0.333000														27			15		0	0	0.000422831	0	0
NEB	4703	broad.mit.edu	37	2	152522714	152522714	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:152522714G>A	uc021vrb.1	-	38	4950	c.4921C>T	c.(4921-4923)Cag>Tag	p.Q1641*	NEB_uc002txu.3_Nonsense_Mutation_p.Q1641*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q1641*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q1641*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q1641*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1641					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		GCAACCTCCTGAGATTTCTTT	0.502000														111			89		0	0	0.00361006	0	0
ZNF785	146540	broad.mit.edu	37	16	30594027	30594028	+	RNA	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:30594027_30594028GG>AA	uc002dyu.3	+	1		c.334_335GG>AA			ZNF785_uc002dyv.2_Missense_Mutation_p.H343Y|ZNF785_uc002dyw.2_Missense_Mutation_p.H358Y|ZNF785_uc010vez.2_Missense_Mutation_p.H323Y			A8K8V0	ZN785_HUMAN	Homo sapiens cDNA clone IMAGE:4906981, partial cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						ATCCACCGATGGGCTTCCAGGG	0.668000														32			62		0	0	6.4e-05	0	0
NEFL	4747	broad.mit.edu	37	8	24811210	24811210	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:24811210G>A	uc003xee.3	-	2	1371	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	423	Tail, subdomain A.|Tail.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AACCGCCGTAGGCAGATCGGC	0.567000														38			21		0	0	0.00229938	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7578212G>A	uc002gim.2	-	5	831	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.3_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.2_Nonsense_Mutation_p.R174*|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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*(467)|p.R213L(35)|p.R213Q(27)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.F212fs*3(11)|p.0?(8)|p.R213G(8)|p.R213P(5)|p.?(5)|p.R213R(5)|p.R213fs*35(4)|p.F212L(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.F212I(2)|p.F212S(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.R120fs*35(1)|p.R81G(1)|p.F212Y(1)|p.T211fs*28(1)|p.R209fs*6(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)				8			49		0	0	0.00361006	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796807	42796807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:42796807C>T	uc003osn.1	+	5	887	c.736C>T	c.(736-738)Cca>Tca	p.P246S	KIAA0240_uc003osm.1_Missense_Mutation_p.P246S|KIAA0240_uc011duw.1_Missense_Mutation_p.P246S|KIAA0240_uc003oso.1_Missense_Mutation_p.P246S|KIAA0240_uc003osp.1_Missense_Mutation_p.P246S	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	246										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GCAGCAAGCCCCATCAAATGT	0.443000														63			40		0	0	0.00128727	0	0
FSTL4	23105	broad.mit.edu	37	5	132585175	132585176	+	Missense_Mutation	DNP	CC	TT	TT	rs151107205		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132585175_132585176CC>TT	uc003kyn.1	-	6	1038_1039	c.820_821GG>AA	c.(820-822)gga>AAa	p.G274K		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	274	Ig-like 1.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCAGGTCTCCATGGACGGCG	0.584000														22			18		0	0	6.4e-05	0	0
MAN2A1	4124	broad.mit.edu	37	5	109183456	109183456	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:109183456C>T	uc003kou.1	+	18	3904	c.2941C>T	c.(2941-2943)Cga>Tga	p.R981*		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	981					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TAATCTATTTCGAATACTACT	0.343000														10			21		0	0	0.000878237	0	0
LDHC	3948	broad.mit.edu	37	11	18472617	18472617	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18472617C>T	uc001mon.4	+	7	1054	c.942C>T	c.(940-942)gcC>gcT	p.A314A	LDHC_uc001mom.4_Silent_p.A314A|LDHC_uc009yhp.3_3'UTR|LDHC_uc001moo.4_Silent_p.A198A|LDHC_uc009yhq.3_Non-coding_Transcript|LDHC_uc009yhr.3_3'UTR	NM_017448	NP_059144	P07864	LDHC_HUMAN	Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA.	314					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AGGAGGAGGCCCTTTTCAAGA	0.368000														44			57		0	0	0.00361006	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24257714	24257714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:24257714G>A	uc003xdz.2	+	10	1263	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	ADAMDEC1_uc010lub.2_Missense_Mutation_p.G269E|ADAMDEC1_uc011lab.1_Missense_Mutation_p.G269E	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	348	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCTCTTGTAGGAGTGATGTCA	0.373000														9			15		0	0	0.00316338	0	0
LRP1	4035	broad.mit.edu	37	12	57598218	57598218	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:57598218C>T	uc001snd.3	+	70	11443	c.10977C>T	c.(10975-10977)ttC>ttT	p.F3659F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3659	LDL-receptor class A 29.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGACGAGTTCCAGTGCAACA	0.612000														44			22		0	0	0.00152264	0	0
LMTK3	114783	broad.mit.edu	37	19	49000740	49000740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49000740C>T	uc002pjk.3	-	11	3673	c.3673G>A	c.(3673-3675)Gac>Aac	p.D1225N		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TTGGGGGGGTCCCCGTCTCCG	0.711000														18			11		0	0	0.00136819	0	0
BRMS1	25855	broad.mit.edu	37	11	66105737	66105737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:66105737G>A	uc001oho.1	-	8	857	c.710C>T	c.(709-711)tCc>tTc	p.S237F	RIN1_uc010roy.1_5'Flank|RIN1_uc009yrd.1_5'Flank|RIN1_uc001ohn.1_5'Flank|RIN1_uc010roz.1_5'Flank|RIN1_uc010rpa.1_5'Flank|BRMS1_uc001ohp.1_Missense_Mutation_p.S237F|BRMS1_uc009yre.3_3'UTR	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	237					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTTCTGAGGGGACACAGCTGC	0.592000														5			6		0	0	0.00116845	0	0
CDC14B	8555	broad.mit.edu	37	9	99381652	99381652	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:99381652C>T	uc004awj.3	-	0	461	c.9G>A	c.(7-9)cgG>cgA	p.R3R	CDC14B_uc004awk.3_Silent_p.R3R|CDC14B_uc004awl.3_Non-coding_Transcript	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	3					DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTCGCTTTTCCGCTTCATGG	0.791000														1			6		0	0	0.00307968	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13923865	13923865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:13923865C>T	uc002mxh.1	+	5	1256	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V	ZSWIM4_uc010xng.1_Missense_Mutation_p.A162V	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	356							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAGGAAAGGGCAGGCTGGCTC	0.637000														21			23		0	0	0.00332997	0	0
TNR	7143	broad.mit.edu	37	1	175348708	175348708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:175348708G>A	uc001gkp.1	-	6	2024	c.1943C>T	c.(1942-1944)aCc>aTc	p.T648I	TNR_uc009wwu.1_Missense_Mutation_p.T648I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	648	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCCCTGGTGGTTGGACCAAT	0.532000														11			17		0	0	0.00121646	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421256	39421256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:39421256C>T	uc003awt.4	+	2	799	c.392C>T	c.(391-393)tCt>tTt	p.S131F	APOBEC3D_uc021wpq.1_Missense_Mutation_p.S131F|APOBEC3D_uc010gxu.3_Intron|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	131					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTGACCATCTCTGCCGCCCGC	0.562000														70			44		0	0	0.00361006	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235906	23235906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:23235906G>A	uc021wmq.1	+	1	510	c.236G>A	c.(235-237)aGa>aAa	p.R79K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Missense_Mutation_p.R78K|IGLL5_uc010gtu.2_Intron|IGLL5_uc021wmr.1_5'Flank	NM_001178126	NP_001171597	B9A064	IGLL5_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA.	78						extracellular region		p.A79V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AGCCCCCAGAGAGCAGACCCC	0.652000														7			9		0	0	0.000978159	0	0
SESTD1	91404	broad.mit.edu	37	2	180041227	180041227	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:180041227T>G	uc002uni.4	-	3	353	c.203A>C	c.(202-204)gAt>gCt	p.D68A		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	68	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTTCTGCCATCCACAATCAC	0.348000														26			16		0	0	0.000566183	0	0
CARD10	29775	broad.mit.edu	37	22	37888516	37888516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37888516C>T	uc003asx.1	-	17	2694	c.2677G>A	c.(2677-2679)Gga>Aga	p.G893R	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asu.1_5'UTR|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.G211R|CARD10_uc003asw.1_Missense_Mutation_p.G607R|CARD10_uc003asy.1_Missense_Mutation_p.G893R	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	893					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTGGGGGCTCCAGGCGCTGAG	0.672000														79			33		0	0	0.00128727	0	0
BACE1	23621	broad.mit.edu	37	11	117166040	117166040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:117166040C>T	uc001pqz.3	-	2	835	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	BACE1_uc001pqw.3_Missense_Mutation_p.R125Q|BACE1_uc001pqx.3_Missense_Mutation_p.R125Q|BACE1_uc001pqy.3_Missense_Mutation_p.R125Q|BACE1_uc001pra.1_Missense_Mutation_p.R125Q|BACE1_uc010rxg.2_Missense_Mutation_p.R25Q|BACE1_uc010rxh.2_Missense_Mutation_p.R25Q	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	125					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	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;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CACACCCTTCCGGAGGTCCCG	0.557000														4			23		0	0	0.00395357	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315884	30315884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:30315884C>T	uc009xle.2	-	2	3330	c.3193G>A	c.(3193-3195)Gag>Aag	p.E1065K	KIAA1462_uc001iux.3_Missense_Mutation_p.E1065K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E927K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1065										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AAAGACCCCTCTAGCTCACTG	0.592000														120			43		0	0	0.00361006	0	0
ADAM2	2515	broad.mit.edu	37	8	39604031	39604031	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:39604031G>A	uc003xnj.3	-	18	2209	c.2134C>T	c.(2134-2136)Caa>Taa	p.Q712*	ADAM2_uc003xnk.3_Nonsense_Mutation_p.Q693*|ADAM2_uc011lck.2_Nonsense_Mutation_p.Q649*|ADAM2_uc003xnl.3_Nonsense_Mutation_p.Q556*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	712					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTTTTCCTTTGGAAATTAACT	0.284000														82			56		0	0	0.00361006	0	0
CFB	629	broad.mit.edu	37	6	31902149	31902149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31902149C>T	uc003nye.4	+	5	1186	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nyf.3_Intron|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Intron|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	15	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTTCCCCTCCTCAGAACCCC	0.493000														52			36		0	0	0.00375469	0	0
abParts	0	broad.mit.edu	37	14	106331497	106331497	+	Splice_Site	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106331497A>T	uc021ser.1	-	4288		c.62301_splice	c.e4288+0		DKFZp686O16217_uc001yrs.3_5'Flank|DKFZp686O16217_uc001yrt.3_5'Flank|IGHE_uc001yrw.1_5'Flank|IGHE_uc001yrx.2_5'Flank|IGHE_uc001yrz.2_5'Flank|IGHG1_uc001yse.3_5'Flank|IGHE_uc001ysj.3_5'Flank|IGHE_uc001ysk.1_5'Flank|IGHE_uc001ysl.1_5'Flank|IGHE_uc001ysm.2_5'Flank|IGHE_uc001ysn.1_5'Flank|abParts_uc021set.1_5'Flank					Parts of antibodies, mostly variable regions.																		CCATACAAAAACACACCCTCC	0.607000														8			6		0	0	0.00198382	0	0
KIF2A	3796	broad.mit.edu	37	5	61648535	61648535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:61648535C>T	uc003jsy.4	+	4	766	c.455C>T	c.(454-456)cCt>cTt	p.P152L	KIF2A_uc003jsz.4_Missense_Mutation_p.P152L|KIF2A_uc003jsx.4_Missense_Mutation_p.P132L|KIF2A_uc010iwp.3_Intron|KIF2A_uc010iwq.3_5'UTR	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	152	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTGGACCCCCTTGTATGTAA	0.378000														23			13		0	0	0.00185496	0	0
ADCY1	107	broad.mit.edu	37	7	45743207	45743207	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:45743207C>T	uc003tne.4	+	15	2598	c.2580C>T	c.(2578-2580)taC>taT	p.Y860Y		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	860					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGGACCTCTACTACCAGTCCT	0.582000														36			31		0	0	0.00178596	0	0
LCT	3938	broad.mit.edu	37	2	136566074	136566074	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:136566074C>T	uc002tuu.1	-	7	3854	c.3843G>A	c.(3841-3843)ccG>ccA	p.P1281P		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1281	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)		CCTCCGTGTTCGGATTGGTCA	0.488000														132			72		0	0	0.00361006	0	0
SLC18A2	6571	broad.mit.edu	37	10	119013971	119013971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:119013971G>A	uc001ldd.2	+	5	826	c.663G>A	c.(661-663)atG>atA	p.M221I	SLC18A2_uc009xyy.2_Missense_Mutation_p.M18I	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	221					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCAACGTCATGGGAATCGCCT	0.592000														6			29		0	0	0.00170553	0	0
CCPG1	9236	broad.mit.edu	37	15	55664196	55664196	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:55664196G>A	uc010bfk.2	-	5	800	c.501C>T	c.(499-501)acC>acT	p.T167T	CCPG1_uc002acy.3_Silent_p.T167T|CCPG1_uc002acu.2_Silent_p.T23T|CCPG1_uc002acz.2_Silent_p.T167T|CCPG1_uc002acw.2_5'UTR|CCPG1_uc002acx.3_Silent_p.T167T|CCPG1_uc002acv.2_Silent_p.T167T	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	167	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GCTGATTACTGGTTTCATCAC	0.418000														35			20		0	0	0.00121646	0	0
TAT	6898	broad.mit.edu	37	16	71604251	71604251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:71604251G>A	uc002fap.2	-	8	1061	c.962C>T	c.(961-963)aCc>aTc	p.T321I		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	321					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CTGGACAATGGTACAGGGTCC	0.502000														21			38		0	0	0.00128727	0	0
OR5D18	219438	broad.mit.edu	37	11	55587893	55587893	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:55587893C>A	uc010rin.2	+	0	788	c.788C>A	c.(787-789)cCc>cAc	p.P263H		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P263P(1)|p.V262V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TACTGTGTGCCCAACTCCAAA	0.522000														54			19		1.78486e-19	5.22418e-19	0.000958276	1	0
MALL	7851	broad.mit.edu	37	2	110849340	110849340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:110849340C>T	uc002tfk.3	-	1	887	c.113G>A	c.(112-114)gGg>gAg	p.G38E	MALL_uc010fju.3_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	38	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GACCAAGAACCCAAATATCTG	0.463000														67			17		0	0	0.000720815	0	0
OR10H5	284433	broad.mit.edu	37	19	15905071	15905071	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:15905071C>T	uc010xos.2	+	0	213	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCACCGAGATCCTCTACACCG	0.622000														24			19		0	0	0.000958276	0	0
CDK18	5129	broad.mit.edu	37	1	205492680	205492680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:205492680G>A	uc001hcr.3	+	2	462	c.200G>A	c.(199-201)gGg>gAg	p.G67E	CDK18_uc009xbk.2_Non-coding_Transcript|CDK18_uc009xbl.2_Non-coding_Transcript|CDK18_uc010pri.2_Silent_p.R87R|CDK18_uc001hcp.3_Missense_Mutation_p.G67E|CDK18_uc001hcq.3_Missense_Mutation_p.G67E|CDK18_uc010prj.2_5'UTR|CDK18_uc001hcs.3_5'UTR|CDK18_uc009xbm.1_5'UTR	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	65							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACAGACAGCGGGGAGGAGCCG	0.677000														4			5		0	0	0.00307968	0	0
KDM2B	84678	broad.mit.edu	37	12	121932437	121932437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121932437G>A	uc001uat.3	-	11	1783	c.1679C>T	c.(1678-1680)cCt>cTt	p.P560L	KDM2B_uc001uar.3_Missense_Mutation_p.P151L|KDM2B_uc001uas.3_Missense_Mutation_p.P529L|KDM2B_uc021rfd.1_Missense_Mutation_p.P529L|KDM2B_uc001uau.3_Missense_Mutation_p.P443L|KDM2B_uc021rfe.1_Missense_Mutation_p.P560L|KDM2B_uc001uav.4_Missense_Mutation_p.P470L	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	560					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						GGCCAGACTAGGGTCATCATC	0.582000											OREG0022202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			6		0	0	0.00307968	0	0
SPAM1	6677	broad.mit.edu	37	7	123594319	123594319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:123594319C>T	uc003vle.3	+	2	1134	c.695C>T	c.(694-696)cCc>cTc	p.P232L	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P232L|SPAM1_uc022aks.1_Missense_Mutation_p.P232L|SPAM1_uc003vlf.4_Missense_Mutation_p.P232L|SPAM1_uc010lku.3_Missense_Mutation_p.P232L	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	232					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.P232P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TATAAGAAACCCGGTTACAAT	0.368000														86			42		0	0	0.00170553	0	0
SPDYE3	441272	broad.mit.edu	37	7	99905580	99905580	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:99905580G>A	uc022aij.1	+	0	256	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA.	24										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						ACCCCCTCCAGGAGGTGGTGG	0.582000														2			7		0	0	0.00307968	0	0
RND1	27289	broad.mit.edu	37	12	49258632	49258632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:49258632C>T	uc001rsn.3	-	1	245	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	48					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GTGTAATTTTCGAACACGGTG	0.517000														67			48		0	0	0.00361006	0	0
AHRR	57491	broad.mit.edu	37	5	434374	434374	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:434374A>T	uc003jav.3	+	11	1628	c.1585A>T	c.(1585-1587)Atg>Ttg	p.M529L	AHRR_uc003jaw.3_Missense_Mutation_p.M511L|AHRR_uc010isy.3_Missense_Mutation_p.M357L|AHRR_uc010isz.3_Missense_Mutation_p.M507L|AHRR_uc003jax.3_Missense_Mutation_p.M270L|AHRR_uc003jay.3_Missense_Mutation_p.M367L|AHRR_uc003jaz.3_Missense_Mutation_p.M128L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGCTATCCCATGGAGGACAT	0.617000														18			25		0	0	0.00395357	0	0
ST14	6768	broad.mit.edu	37	11	130066311	130066311	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:130066311C>T	uc001qfw.3	+	9	1384	c.1191C>T	c.(1189-1191)tgC>tgT	p.C397C	ST14_uc010sca.1_Silent_p.C207C	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	397	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CGGGCACCTGCCCCAAGGACT	0.657000														3			6		0	0	0.00198382	0	0
STAB1	23166	broad.mit.edu	37	3	52538520	52538520	+	Silent	SNP	C	T	T	rs113269624		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:52538520C>T	uc003dej.3	+	10	1268	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	STAB1_uc003dei.1_Silent_p.T398T	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	398	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCTTTCACCGTGCTGGTGC	0.637000														4			27		0	0	0.00178596	0	0
SORBS1	10580	broad.mit.edu	37	10	97111052	97111052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:97111052G>A	uc001kkp.3	-	22	2341	c.2296C>T	c.(2296-2298)Ccg>Tcg	p.P766S	SORBS1_uc001kkk.3_Missense_Mutation_p.P260S|SORBS1_uc001kkl.3_Missense_Mutation_p.P368S|SORBS1_uc001kkn.3_Missense_Mutation_p.P531S|SORBS1_uc001kkm.3_Missense_Mutation_p.P566S|SORBS1_uc001kko.3_Missense_Mutation_p.P788S|SORBS1_uc001kkq.3_Missense_Mutation_p.P617S|SORBS1_uc001kkr.3_Missense_Mutation_p.P472S|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.P513S|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P720S|SORBS1_uc010qoe.2_Missense_Mutation_p.P481S|SORBS1_uc010qof.1_Missense_Mutation_p.P834S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	766					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TGGTGCGTCGGAATGACGCCT	0.468000														7			43		0	0	0.00321405	0	0
GPR133	283383	broad.mit.edu	37	12	131487747	131487747	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:131487747G>A	uc010tbm.2	+	10	1699	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	GPR133_uc001uit.4_Silent_p.L348L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	348					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGGTACTGAGTCTCATCG	0.602000														117			52		0	0	0.00361006	0	0
ZNF304	57343	broad.mit.edu	37	19	57867617	57867617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57867617C>T	uc010etw.3	+	3	909	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZNF304_uc010ygw.2_Missense_Mutation_p.S127L|ZNF304_uc010etx.3_Missense_Mutation_p.S85L	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGAAGATTCTCGTTCAGTGCA	0.483000														57			13		0	0	0.00185496	0	0
TCTN2	79867	broad.mit.edu	37	12	124191312	124191312	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:124191312C>T	uc001ufp.3	+	15	1937	c.1809C>T	c.(1807-1809)acC>acT	p.T603T	TCTN2_uc009zya.3_Silent_p.T602T	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	603					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GTGGGCTTACCTGTGAGCACA	0.502000														30			42		0	0	0.00285205	0	0
MTMR12	54545	broad.mit.edu	37	5	32242174	32242174	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:32242174A>G	uc003jhq.3	-	11	1330	c.1160T>C	c.(1159-1161)gTt>gCt	p.V387A	MTMR12_uc010iuk.3_Missense_Mutation_p.V387A|MTMR12_uc010iul.3_Missense_Mutation_p.V387A	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	387	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAAAAGAAGAACATTCATGTT	0.328000														39			19		0	0	0.00229938	0	0
IRF8	3394	broad.mit.edu	37	16	85936699	85936699	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:85936699G>A	uc002fjh.3	+	1	135	c.78G>A	c.(76-78)ctG>ctA	p.L26L	IRF8_uc002fji.3_Silent_p.L26L	NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	26					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ATCCAGGACTGATTTGGGAGA	0.483000														52			87		0	0	0.00361006	0	0
OR2A2	442361	broad.mit.edu	37	7	143806792	143806793	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143806792_143806793GG>TT	uc011ktz.2	+	0	117_118	c.117_118GG>TT	c.(115-120)ctgggg>ctTTgg	p.G40W		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G40E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCACCCTGCTGGGGAATGGGGT	0.515000														163			9		0	0	6.4e-05	0	0
EHD1	10938	broad.mit.edu	37	11	64645688	64645688	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64645688G>A	uc010rnq.1	-	1	338	c.291C>T	c.(289-291)ttC>ttT	p.F97F	EHD1_uc001obu.1_Silent_p.F83F|EHD1_uc001obv.1_Silent_p.F83F	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	83					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GCATCCCCGGGAAGTCCTGCT	0.657000														22			34		0	0	0.00375469	0	0
KLK6	5653	broad.mit.edu	37	19	51466678	51466678	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51466678G>A	uc002puh.3	-	2	417	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.L109L|KLK6_uc002puj.3_Silent_p.L2L|KLK6_uc010ycn.2_Silent_p.L2L|KLK6_uc002pul.3_Silent_p.L109L|KLK6_uc002pum.3_Silent_p.L2L	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	109	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)		AGGCGCAACAGCATGATGTCC	0.597000														13			57		0	0	0.00361006	0	0
XIRP2	129446	broad.mit.edu	37	2	168107796	168107796	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:168107796G>A	uc002udx.3	+	8	9983	c.9894G>A	c.(9892-9894)aaG>aaA	p.K3298K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K3123K|XIRP2_uc010fpq.3_Silent_p.K3076K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3123					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCATCCGCAAGGTTGCAGTGC	0.453000														77			51		0	0	0.00361006	0	0
DMWD	1762	broad.mit.edu	37	19	46289281	46289281	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:46289281G>A	uc002pdj.1	-	2	1519	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	DMWD_uc021uwc.1_Missense_Mutation_p.P145L|DMWD_uc010eko.1_Silent_p.S176S	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	491					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGTTGGAGCGGGACAGCGAGC	0.746000														5			5		0	0	0.00116845	0	0
CABIN1	23523	broad.mit.edu	37	22	24573578	24573578	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:24573578C>T	uc002zzi.1	+	35	6439	c.6312C>T	c.(6310-6312)ccC>ccT	p.P2104P	CABIN1_uc021wnc.1_Silent_p.P2054P|CABIN1_uc002zzj.1_Silent_p.P2025P|CABIN1_uc002zzl.2_Silent_p.P2104P|CABIN1_uc010gul.1_Silent_p.P42P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	2104					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.A2103A(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAAGGCCCCCAGCAGTGGGA	0.667000														32			43		0	0	0.00321405	0	0
DESI1	27351	broad.mit.edu	37	22	42003275	42003275	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:42003275G>A	uc003bam.2	-	2	389	c.171C>T	c.(169-171)agC>agT	p.S57S	DESI1_uc011apb.2_Intron	NM_015704	NP_056519	Q6ICB0	PPDE2_HUMAN	Homo sapiens PPPDE peptidase domain containing 2 (PPPDE2), mRNA.	57	PPPDE peptidase.																CCGGGGGGCAGCTGGAGATAC	0.527000														22			32		0	0	0.00283554	0	0
TIMP4	7079	broad.mit.edu	37	3	12195893	12195894	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:12195893_12195894CC>GT	uc003bwo.3	-	3	921_922	c.410_411GG>AC	c.(409-411)tgg>tAC	p.W137Y	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	137	NTR.						metal ion binding|metalloendopeptidase inhibitor activity	p.W137C(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						ACAGGTCCTCCCAGGGCTCGAT	0.490000														259			59		0	0	6.4e-05	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382330	101382330	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:101382330G>A	uc022car.1	+	0	528	c.528G>A	c.(526-528)agG>agA	p.R176R	TCEAL2_uc004eip.3_Silent_p.R176R	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 2 (TCEAL2), mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACATGGCTAGGGTGGAGGATA	0.428000														7			59		0	0	0.00361006	0	0
LLGL2	3993	broad.mit.edu	37	17	73569259	73569259	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:73569259G>A	uc002joh.3	+	19	2779	c.2625G>A	c.(2623-2625)gtG>gtA	p.V875V	LLGL2_uc002joi.3_Silent_p.V875V|LLGL2_uc010dgg.2_Silent_p.V875V|LLGL2_uc002joj.3_Silent_p.V864V|LLGL2_uc010wsd.2_Silent_p.V502V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	875					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACATCCAGGTGGTCTCGCTGC	0.657000														6			54		0	0	0.00361006	0	0
TRIM29	23650	broad.mit.edu	37	11	119991312	119991312	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:119991312C>T	uc001pwz.3	-	5	1621	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Silent_p.Q238Q|TRIM29_uc010rzj.2_Silent_p.Q232Q|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	499					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q499K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGAAATTCTTCTGGGTGGTCT	0.552000														3			19		0	0	0.00121646	0	0
KEL	3792	broad.mit.edu	37	7	142640645	142640645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142640645G>A	uc003wcb.3	-	14	1841	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	544					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCAGATACCGAATAGTAAGC	0.557000														26			89		0	0	0.00361006	0	0
XIRP2	129446	broad.mit.edu	37	2	168102710	168102710	+	Missense_Mutation	SNP	C	T	T	rs74627077		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:168102710C>T	uc002udx.3	+	8	4897	c.4808C>T	c.(4807-4809)gCt>gTt	p.A1603V	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.A1428V|XIRP2_uc010fpq.3_Missense_Mutation_p.A1381V|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1428					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTATCAGGGCTGATCTCAGA	0.363000														16			24		0	0	0.00395357	0	0
SCN5A	6331	broad.mit.edu	37	3	38620944	38620944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38620944C>T	uc021wvo.1	-	16	3323	c.3271G>A	c.(3271-3273)Gat>Aat	p.D1091N	SCN5A_uc021wvk.1_Missense_Mutation_p.D1090N|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvn.1_Missense_Mutation_p.D1090N|SCN5A_uc021wvp.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvq.1_Missense_Mutation_p.D1090N|SCN5A_uc021wvr.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvs.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvt.1_Missense_Mutation_p.D1090N|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.D1091N|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.D957N|SCN5A_uc021wvw.1_Missense_Mutation_p.D701N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1091					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	p.P1090P(1)		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)	GTCCTGGAATCCGGAGGGGCC	0.652000														13			23		0	0	0.00127121	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616171	13616171	+	Missense_Mutation	SNP	G	A	A	rs142892563		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:13616171G>A	uc003gmz.1	-	3	940	c.823C>T	c.(823-825)Cca>Tca	p.P275S	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	275							DNA binding										TCAGACTTTGGGGCTGTTTCC	0.393000														39			20		0	0	0.00395357	0	0
SLC4A9	83697	broad.mit.edu	37	5	139748220	139748220	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:139748220C>T	uc003lfm.2	+	16	2510	c.2475C>T	c.(2473-2475)tcC>tcT	p.S825S	SLC4A9_uc003lfj.2_Silent_p.S801S|SLC4A9_uc011czg.1_Silent_p.S738S|SLC4A9_uc003lfl.2_Silent_p.S801S|SLC4A9_uc003lfk.2_Silent_p.S787S	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	825	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGCCTCCATCTTCCTGG	0.527000														39			12		0	0	0.00244969	0	0
EFTUD2	9343	broad.mit.edu	37	17	42962668	42962668	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:42962668G>A	uc002ihn.2	-	3	567	c.306C>T	c.(304-306)ttC>ttT	p.F102F	EFTUD2_uc010wje.1_Silent_p.F67F|EFTUD2_uc010wjf.1_Silent_p.F102F	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	102						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCATCAGAGTGAATTTCTTGG	0.383000														140			63		0	0	0.00361006	0	0
TTI1	9675	broad.mit.edu	37	20	36624820	36624820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:36624820G>A	uc002xhl.3	-	7	3252	c.3043C>T	c.(3043-3045)Ctc>Ttc	p.L1015F	TTI1_uc002xhm.3_Missense_Mutation_p.L1015F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	1015							binding	p.L1015H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTGACACTGAGGTAAATCAAG	0.453000														87			31		0	0	0.00170553	0	0
C2orf40	84417	broad.mit.edu	37	2	106690397	106690397	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:106690397C>T	uc010fjf.3	+	2	291	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	61						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CCAAAGAATTCCTTGGCAGCC	0.517000														109			92		0	0	0.00361006	0	0
TDRD5	163589	broad.mit.edu	37	1	179632549	179632549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:179632549G>A	uc010pnp.2	+	15	3090	c.2572G>A	c.(2572-2574)Gga>Aga	p.G858R	TDRD5_uc021pfm.1_Missense_Mutation_p.G804R|TDRD5_uc001gnf.2_Missense_Mutation_p.G804R|TDRD5_uc021pfn.1_Missense_Mutation_p.G858R|TDRD5_uc001gnh.2_Missense_Mutation_p.G359R	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	835					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCTTGTAAATGGAACGAAAGT	0.398000														29			30		0	0	0.0024448	0	0
OBSCN	84033	broad.mit.edu	37	1	228479646	228479646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228479646G>A	uc009xez.1	+	38	10431	c.10387G>A	c.(10387-10389)Gaa>Aaa	p.E3463K	OBSCN_uc001hsn.3_Missense_Mutation_p.E3463K|OBSCN_uc001hsq.1_Missense_Mutation_p.E719K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3463	Ig-like 35.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				AGAGGCCGTGGAAGGGGCCAC	0.582000														31			9		0	0	0.000442599	0	0
UNC119B	84747	broad.mit.edu	37	12	121151120	121151120	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121151120C>T	uc001tyz.3	+	1	735	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	96										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTATTGATTTCACCCGCTTCA	0.393000														288			146		0	0	0.00361006	0	0
SNCB	6620	broad.mit.edu	37	5	176053707	176053707	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176053707G>A	uc010jke.1	-	1	571	c.177C>T	c.(175-177)gcC>gcT	p.A59A	SNCB_uc021yij.1_Intron|SNCB_uc003mep.3_Intron|SNCB_uc003meq.3_Intron|SNCB_uc021yig.1_Intron|SNCB_uc021yih.1_Intron|SNCB_uc021yii.1_Intron			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity	p.T59N(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTGCCAGGGCTGGGCTAG	0.617000														23			37		0	0	0.00148497	0	0
OR7D2	162998	broad.mit.edu	37	19	9296615	9296615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9296615C>T	uc002mkz.1	+	0	346	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	53					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						AGCTCTGACTCCCACCTCCAC	0.537000														13			28		0	0	0.00106085	0	0
abParts	0	broad.mit.edu	37	14	106376339	106376339	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106376339C>T	uc021ser.1	-	3429		c.54036_splice	c.e3429-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron					Parts of antibodies, mostly variable regions.																		GGGACCTTCCCTTGCTGGGCT	0.582000														17			18		0	0	0.00152264	0	0
UGT2B10	7365	broad.mit.edu	37	4	69884051	69884051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:69884051C>T	uc011cao.1	-	3	767	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	UGT2B10_uc011can.1_Missense_Mutation_p.R130Q			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	258					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCAGGAGTTTCGCATAAGCCA	0.383000														51			29		0	0	0.00106085	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369483	86369483	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:86369483G>A	uc001vll.1	-	1	1620	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	SLITRK6_uc021rla.1_Silent_p.F387F	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	387						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTCCAAAGTGAAATATTCCA	0.363000														18			38		0	0	0.000814825	0	0
CROCC	9696	broad.mit.edu	37	1	17265513	17265513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:17265513C>T	uc001azt.2	+	11	1553	c.1484C>T	c.(1483-1485)cCa>cTa	p.P495L	CROCC_uc009voy.1_Missense_Mutation_p.P198L|CROCC_uc009voz.1_Missense_Mutation_p.P258L|CROCC_uc001azu.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	495					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCCCGTCCCCACCGCGGCGC	0.746000														1			17		0	0	0.000566183	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508517	106508517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:106508517G>A	uc003vdv.4	+	1	596	c.511G>A	c.(511-513)Gat>Aat	p.D171N	PIK3CG_uc003vdu.3_Missense_Mutation_p.D171N|PIK3CG_uc003vdw.3_Missense_Mutation_p.D171N	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	171					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTGCACGACGATGAGCTGGA	0.677000														61			14		0	0	0.00185496	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124382	12124382	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:12124382C>T	uc003nac.3	+	3	4533	c.4354C>T	c.(4354-4356)Caa>Taa	p.Q1452*	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1452					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AACATCTTTCCAAAATACTGC	0.453000														110			18		0	0	0.00152264	0	0
LPO	4025	broad.mit.edu	37	17	56344862	56344862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56344862G>A	uc002ivt.3	+	11	2162	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	LPO_uc010wns.2_Missense_Mutation_p.E557K|LPO_uc010dcp.3_Missense_Mutation_p.E533K|LPO_uc010dcq.3_Missense_Mutation_p.E287K|LPO_uc010dcr.3_Missense_Mutation_p.E179K	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	616					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGCCATTGCTGAGCCGCTGGT	0.587000														23			35		0	0	0.00128727	0	0
ACY3	91703	broad.mit.edu	37	11	67410210	67410210	+	Silent	SNP	C	T	T	rs139551384		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:67410210C>T	uc001omq.3	-	7	1116	c.945G>A	c.(943-945)ccG>ccA	p.P315P		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	315					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	AAGCTGGGCTCGGGGCAGGGG	0.582000														36			57		0	0	0.00361006	0	0
KCNN3	3782	broad.mit.edu	37	1	154705554	154705554	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:154705554G>A	uc021pah.1	-	4	1874	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	KCNN3_uc001ffo.3_Silent_p.F200F|KCNN3_uc001ffp.3_Silent_p.F505F	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	510						integral to membrane	calmodulin binding	p.G520W(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CAATGGAAAGGAATGTGATGG	0.522000														22			51		0	0	0.00361006	0	0
LRRC49	54839	broad.mit.edu	37	15	71256254	71256254	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:71256254G>C	uc010ukf.2	+	8	1225	c.919G>C	c.(919-921)Gat>Cat	p.D307H	LRRC49_uc002asu.3_Missense_Mutation_p.D292H|LRRC49_uc002asx.3_Missense_Mutation_p.D258H|LRRC49_uc002asw.3_Missense_Mutation_p.D302H|LRRC49_uc002asy.3_Missense_Mutation_p.D8H|LRRC49_uc002asz.3_Missense_Mutation_p.D274H	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	302	LRRCT.					cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GCGCCAGCTAGATATGAAGAG	0.438000														48			27		0	0	0.00127121	0	0
TTI1	9675	broad.mit.edu	37	20	36641847	36641847	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:36641847G>A	uc002xhl.3	-	2	581	c.372C>T	c.(370-372)atC>atT	p.I124I	TTI1_uc002xhm.3_Silent_p.I124I	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	124							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TAAGTCCCTGGATCACAGCCA	0.463000														120			72		0	0	0.00361006	0	0
AGBL1	123624	broad.mit.edu	37	15	87217540	87217540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:87217540G>A	uc002blz.1	+	21	3036	c.2956G>A	c.(2956-2958)Gga>Aga	p.G986R		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	986					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGGAGATGGGAGCCATGTT	0.517000														11			7		0	0	0.00307968	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203607	84203607	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:84203607G>A	uc002fhl.4	+	7	1354	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	DNAAF1_uc010vnw.2_Silent_p.P155P	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	391	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCTCTGCCCGGAAAAGCCAA	0.582000														26			32		0	0	0.0024448	0	0
CYTIP	9595	broad.mit.edu	37	2	158283904	158283904	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:158283904G>A	uc002tzj.1	-	5	577	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	CYTIP_uc010zcl.1_Silent_p.L63L	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	169	Interaction with CYTH1.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GTTCTTTTCAGAATCATTGTT	0.353000														22			20		0	0	0.00229938	0	0
RXFP3	51289	broad.mit.edu	37	5	33938078	33938078	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:33938078G>A	uc003jic.2	+	0	1588	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	411						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGTCTCCTTCGATCACCAGCA	0.706000														27			25		0	0	0.00106085	0	0
P2RX3	5024	broad.mit.edu	37	11	57137384	57137384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:57137384G>A	uc001nju.3	+	11	1292	c.1108G>A	c.(1108-1110)Gct>Act	p.A370T		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	370					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GAAAATCGCGGCTTTGACCAA	0.552000														27			4		0	0	0.00116845	0	0
TAB1	10454	broad.mit.edu	37	22	39771966	39771966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:39771966C>T	uc003axr.3	+	1	1807	c.25C>T	c.(25-27)Cct>Tct	p.P9S	TAB1_uc003axo.4_Intron|TAB1_uc003axq.4_Intron|TAB1_uc003axs.4_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTTGAATGTCCCTCTGTTCCT	0.617000														54			36		0	0	0.000953801	0	0
C3orf15	89876	broad.mit.edu	37	3	119434558	119434558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:119434558C>T	uc003ede.4	+	5	727	c.650C>T	c.(649-651)cCt>cTt	p.P217L	C3orf15_uc003edc.2_Missense_Mutation_p.P217L|C3orf15_uc010hqy.2_Missense_Mutation_p.P217L|C3orf15_uc010hqz.3_Missense_Mutation_p.P155L|C3orf15_uc011bjd.2_Missense_Mutation_p.P91L|C3orf15_uc011bje.2_Missense_Mutation_p.P197L|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	217						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GACTCAATCCCTGAGCTCTTG	0.473000														29			36		0	0	0.00111076	0	0
TESPA1	9840	broad.mit.edu	37	12	55356658	55356658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:55356658C>T	uc010spd.1	-	8	1157	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	TESPA1_uc001sgl.3_Missense_Mutation_p.E204K|TESPA1_uc001sgm.3_Missense_Mutation_p.E89K|TESPA1_uc010spb.1_Missense_Mutation_p.E89K|TESPA1_uc010spc.1_Missense_Mutation_p.E204K|TESPA1_uc001sgn.3_Missense_Mutation_p.E342K	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	342																	ACAGGATCTTCCTGTGAGAAT	0.488000														14			19		0	0	0.000958276	0	0
SCAND3	114821	broad.mit.edu	37	6	28542428	28542428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28542428C>T	uc003nlo.3	-	2	2672	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	685					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						TACCCAGTCTCCTACTTTGTC	0.398000														83			63		0	0	0.00361006	0	0
ALPK3	57538	broad.mit.edu	37	15	85411371	85411371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:85411371C>T	uc002ble.3	+	13	5575	c.5408C>T	c.(5407-5409)cCt>cTt	p.P1803L	ALPK3_uc010upc.2_Missense_Mutation_p.P104L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1803	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.P1803L(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTGCTTCCCTGCCCTGCTG	0.647000														102			30		0	0	0.00375469	0	0
GABRG3	2567	broad.mit.edu	37	15	27572008	27572008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:27572008G>A	uc001zbg.2	+	3	577	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	GABRG3_uc001zbf.3_Missense_Mutation_p.R108Q	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	108					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AGTCGCCTTCGATTCAACAGC	0.418000														102			93		0	0	0.00361006	0	0
FREM2	341640	broad.mit.edu	37	13	39452383	39452383	+	Silent	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:39452383C>A	uc001uwv.3	+	21	9093	c.8784C>A	c.(8782-8784)ccC>ccA	p.P2928P		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2928					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTATGTTCCCAAGTATAGTC	0.428000														59			6		0.00198382	0.00571265	0.00198382	1	0
CYP2C19	1557	broad.mit.edu	37	10	96612670	96612670	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:96612670G>A	uc010qnz.2	+	9	1473	c.1473_splice	c.e9+1	p.*491_splice	CYP2C19_uc010qny.2_Splice_Site_p.*469_splice	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	0					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATTCCTGTCTGAAGAAGCACA	0.493000														4			50		0	0	0.00361006	0	0
GPR114	221188	broad.mit.edu	37	16	57596024	57596024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:57596024C>T	uc002ely.3	+	1	542	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F	GPR114_uc002elx.4_Missense_Mutation_p.L7F|GPR114_uc010vhr.2_Missense_Mutation_p.L7F	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	7					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CTGTGGTGCCCTTTTCCTGTG	0.552000														55			21		0	0	0.00278032	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648648	41648648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:41648648G>A	uc003gvz.4	+	16	2975	c.2558G>A	c.(2557-2559)aGa>aAa	p.R853K	LIMCH1_uc003gwe.4_Missense_Mutation_p.R468K|LIMCH1_uc003gvu.4_Missense_Mutation_p.R468K|LIMCH1_uc003gvv.4_Missense_Mutation_p.R468K|LIMCH1_uc003gvw.4_Missense_Mutation_p.R468K|LIMCH1_uc003gvx.4_Missense_Mutation_p.R456K|LIMCH1_uc003gvy.4_Missense_Mutation_p.R297K|LIMCH1_uc003gwa.4_Missense_Mutation_p.R309K|LIMCH1_uc011byu.2_Missense_Mutation_p.R302K|LIMCH1_uc003gwc.4_Missense_Mutation_p.R314K|LIMCH1_uc003gwd.4_Missense_Mutation_p.R302K|LIMCH1_uc011byv.2_Missense_Mutation_p.R219K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	468					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						ATTCTGGAAAGAAGCCATTCA	0.498000														81			69		0	0	0.00361006	0	0
DNAH11	8701	broad.mit.edu	37	7	21657337	21657337	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:21657337A>C	uc003svc.3	+	22	4242	c.4211A>C	c.(4210-4212)gAg>gCg	p.E1404A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1404	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCATCACAGAGTTACAGAGC	0.517000									Kartagener syndrome					23			22		0	0	0.00278032	0	0
LRP1	4035	broad.mit.edu	37	12	57588878	57588878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:57588878C>T	uc001snd.3	+	50	8768	c.8302C>T	c.(8302-8304)Cac>Tac	p.H2768Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2768	LDL-receptor class A 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGAGGCTGCTCACTGTGGTAA	0.632000														64			86		0	0	0.00361006	0	0
BAI3	577	broad.mit.edu	37	6	70071332	70071332	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:70071332C>T	uc010kak.3	+	27	4443	c.4167C>T	c.(4165-4167)gcC>gcT	p.A1389A	BAI3_uc003pev.4_Silent_p.A1389A|BAI3_uc011dxx.2_Silent_p.A595A	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1389					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTTCATGGCCTCTGAGTTGG	0.418000														16			49		0	0	0.00361006	0	0
SLC25A36	55186	broad.mit.edu	37	3	140695236	140695236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:140695236C>T	uc003etr.2	+	6	1112	c.877C>T	c.(877-879)Cca>Tca	p.P293S	SLC25A36_uc003ets.2_Missense_Mutation_p.P292S|SLC25A36_uc003etq.2_Missense_Mutation_p.P136S|SLC25A36_uc011bmz.1_Missense_Mutation_p.P267S	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.	293					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GAGACAGATTCCAAACACAGC	0.398000														49			46		0	0	0.00361006	0	0
GANAB	23193	broad.mit.edu	37	11	62398174	62398174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62398174C>T	uc001nua.3	-	11	1384	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	GANAB_uc001nub.3_Missense_Mutation_p.D429N|GANAB_uc001nuc.3_Missense_Mutation_p.D332N|GANAB_uc010rma.2_Missense_Mutation_p.D337N|GANAB_uc010rmb.2_Missense_Mutation_p.D315N	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	429					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGTTCAATGTCTAGCCAGATG	0.562000														38			17		0	0	0.000422831	0	0
CHRM3	1131	broad.mit.edu	37	1	240071798	240071798	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:240071798C>T	uc021plc.1	+	0	1047	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	CHRM3_uc001hyp.3_Silent_p.S349S	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	349					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGAGAACTCCGCCTCCTCCG	0.572000														6			9		0	0	0.000274275	0	0
FAM47B	170062	broad.mit.edu	37	X	34961628	34961628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:34961628C>T	uc004ddi.2	+	0	716	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	227	Pro-rich.							p.P227T(1)		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						CGCCCAGAGCCTCCCAAGACT	0.647000														2			21		0	0	0.00188189	0	0
GRID2	2895	broad.mit.edu	37	4	93511296	93511296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:93511296G>A	uc011cdt.2	+	1	361	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	GRID2_uc010ikx.3_Missense_Mutation_p.E35K|GRID2_uc011cdu.2_Missense_Mutation_p.E35K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	35					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AATTTTTGATGAATCTGCCAA	0.368000														21			20		0	0	0.00188189	0	0
CMYA5	202333	broad.mit.edu	37	5	79027814	79027814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:79027814G>A	uc003kgc.3	+	1	3298	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1076						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCTCCGCTTGAAGACTTAAG	0.413000														36			32		0	0	0.00209593	0	0
GPR18	2841	broad.mit.edu	37	13	99907671	99907671	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:99907671C>T	uc001voe.4	-	2	1115	c.456G>A	c.(454-456)acG>acA	p.T152T	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Silent_p.T152T|GPR18_uc021rlz.1_Silent_p.T152T	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	152						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	GAGGGGTGGTCGTGGTCAGGG	0.498000														62			28		0	0	0.00127121	0	0
WNK2	65268	broad.mit.edu	37	9	96055405	96055405	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:96055405G>A	uc004ati.1	+	22	5769	c.5769G>A	c.(5767-5769)tcG>tcA	p.S1923S	WNK2_uc011lud.1_Silent_p.S1886S|WNK2_uc004atj.3_Silent_p.S1886S|WNK2_uc004atk.3_Silent_p.S1523S|WNK2_uc004atl.1_Silent_p.S480S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1923					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACAATGATTCGGAGCTCGAGG	0.617000														0			18		0	0	0.00152264	0	0
FBXO34	55030	broad.mit.edu	37	14	55819194	55819194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:55819194C>T	uc021rtk.1	+	0	2086	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Missense_Mutation_p.R696W|FBXO34_uc010aoo.3_Missense_Mutation_p.R696W	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	696								p.R696W(2)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGCTTTAATCGGGCAATCCA	0.488000														17			20		0	0	0.00121646	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50655029	50655029	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:50655029C>T	uc003day.2	+	3	675	c.33C>T	c.(31-33)ggC>ggT	p.G11G	MAPKAPK3_uc003daz.2_Silent_p.G11G|MAPKAPK3_uc003dba.2_Silent_p.G11G|MAPKAPK3_uc010hlr.2_Silent_p.G11G	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	11					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCAGGGGGGCCCTGTGCCCC	0.716000														8			25		0	0	0.00395357	0	0
CHRM5	1133	broad.mit.edu	37	15	34356068	34356068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34356068G>A	uc001zhk.1	+	2	1820	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	CHRM5_uc001zhl.1_Missense_Mutation_p.V384M|CHRM5_uc021sir.1_Missense_Mutation_p.V384M	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	384					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GTTCCGATTGGTGGTAAAAGC	0.493000														49			46		0	0	0.00321405	0	0
ALPL	249	broad.mit.edu	37	1	21887229	21887229	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:21887229C>T	uc001bet.3	+	2	429	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	ALPL_uc010odo.2_Silent_p.L3L|ALPL_uc010odp.2_Silent_p.S19S|ALPL_uc010odn.2_Silent_p.S19S|ALPL_uc001beu.4_Silent_p.L58L	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	58					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CATCATGTTCCTGGGAGATGG	0.577000														21			8		0	0	0.00307968	0	0
HSPG2	3339	broad.mit.edu	37	1	22173922	22173922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:22173922G>A	uc009vqd.3	-	61	8132	c.8092C>T	c.(8092-8094)Cgg>Tgg	p.R2698W	HSPG2_uc001bfj.3_Missense_Mutation_p.R2697W	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2697	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.R2697L(1)|p.A2698T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTGTTGGCCCGGCACACATAC	0.632000														95			31		0	0	0.0024448	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974859	32974859	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32974859G>A	uc003ocr.3	-	3	823	c.747C>T	c.(745-747)ccC>ccT	p.P249P	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	249					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTCTGCACCTGGGGACACTGG	0.612000														61			62		0	0	0.00361006	0	0
WSCD2	9671	broad.mit.edu	37	12	108604066	108604066	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:108604066G>A	uc001tms.3	+	3	1410	c.666G>A	c.(664-666)caG>caA	p.Q222Q	WSCD2_uc001tmt.3_Silent_p.Q222Q	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	222						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGCTGGCCCAGGAGTCGGCCC	0.672000														4			3		0	0	0.00024832	0	0
FGD2	221472	broad.mit.edu	37	6	36988344	36988344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:36988344C>T	uc010jwp.1	+	9	1321	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	FGD2_uc003ong.2_Missense_Mutation_p.P106S|FGD2_uc011dtv.1_Missense_Mutation_p.P12S|FGD2_uc003onj.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	384	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGCTGAGTTTCCCCACTCCTT	0.647000														10			12		0	0	0.00136819	0	0
ZNF502	91392	broad.mit.edu	37	3	44763609	44763609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:44763609C>T	uc011baa.2	+	3	1555	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	ZNF502_uc003cns.3_Missense_Mutation_p.P434S|ZNF502_uc011bab.2_Missense_Mutation_p.P434S|ZNF502_uc003cnt.3_Missense_Mutation_p.P434S	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TGGAGAAAAACCCTATAAATG	0.423000														30			12		0	0	0.000978159	0	0
TIAM1	7074	broad.mit.edu	37	21	32582379	32582379	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:32582379G>A	uc002yow.1	-	11	2842	c.2370C>T	c.(2368-2370)acC>acT	p.T790T	TIAM1_uc011adk.1_Silent_p.T790T|TIAM1_uc011adl.1_Silent_p.T765T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	790	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCAGCTCCAGGGTGTCCCGTG	0.532000														24			28		0	0	0.001512	0	0
FAM47B	170062	broad.mit.edu	37	X	34961603	34961603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:34961603C>T	uc004ddi.2	+	0	691	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	219	Pro-rich.							p.R219W(2)		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						TCCCAAGACTCGGGTGTCCAG	0.667000														2			21		0	0	0.00152264	0	0
NKX2-8	26257	broad.mit.edu	37	14	37051552	37051552	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:37051552G>A	uc001wtx.3	-	0	235	c.43C>T	c.(43-45)Cta>Tta	p.L15L		NM_014360	NP_055175	O15522	NKX28_HUMAN	Homo sapiens NK2 homeobox 8 (NKX2-8), mRNA.	15					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GGTAAATCTAGAAGGCTGCGC	0.726000														14			24		0	0	0.00395357	0	0
ABCB1	5243	broad.mit.edu	37	7	87175237	87175237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:87175237C>T	uc003uiz.2	-	15	2322	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	ABCB1_uc011khc.2_Missense_Mutation_p.G546E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	610	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATCATGATTTCCTTTCTCCAC	0.398000														87			18		0	0	0.000566183	0	0
COL6A5	256076	broad.mit.edu	37	3	130159661	130159661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:130159661C>T	uc010htj.1	+	34	6973	c.6479C>T	c.(6478-6480)tCg>tTg	p.S2160L	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.S199L|COL6A5_uc010htk.1_Missense_Mutation_p.S199L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2160	Nonhelical region.				axon guidance|cell adhesion	collagen		p.S2160L(2)|p.S199L(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTTATACTCGGTCAGGCGT	0.323000														17			11		0	0	0.00136819	0	0
CAPN6	827	broad.mit.edu	37	X	110507123	110507123	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:110507123C>T	uc004epc.2	-	1	233	c.42G>A	c.(40-42)caG>caA	p.Q14Q	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	14					microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCTTCAGTTCCTGGTATTTCT	0.408000														6			35		0	0	0.000953801	0	0
DNAH5	1767	broad.mit.edu	37	5	13700980	13700980	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:13700980C>T	uc003jfd.2	-	78	13534	c.13492_splice	c.e78-1	p.E4498_splice	DNAH5_uc003jfc.2_Splice_Site_p.E666_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4498					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E4498K(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)					CGAGTTATTTCCTATTCAGGG	0.453000									Kartagener syndrome					10			71		0	0	0.00361006	0	0
RGPD4	285190	broad.mit.edu	37	2	108507182	108507182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:108507182G>A	uc010ywk.2	+	22	5354	c.5272G>A	c.(5272-5274)Gaa>Aaa	p.E1758K	RGPD4_uc002tdu.3_Missense_Mutation_p.E945K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1758					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAAAGGTGAGGAATAAAATGC	0.303000														26			21		0	0	0.00106085	0	0
ADH4	127	broad.mit.edu	37	4	100063877	100063877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:100063877C>T	uc003hun.3	-	1	149	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.E44K	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	25					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TCAACCTCTTCAATGCAAAGG	0.493000														27			23		0	0	0.00106085	0	0
INTS12	57117	broad.mit.edu	37	4	106614568	106614568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:106614568G>A	uc003hxw.3	-	4	643	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	INTS12_uc010ilr.3_Missense_Mutation_p.P129S	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	129					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		ACAGTAATGGGAGATGACTGT	0.418000														99			73		0	0	0.00361006	0	0
TMEM199	147007	broad.mit.edu	37	17	26687798	26687798	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:26687798C>T	uc010wah.1	+	4	466	c.459C>T	c.(457-459)ttC>ttT	p.F153F	TMEM199_uc002hba.3_Silent_p.F153F	NM_152464	NP_689677	Q8N511	TM199_HUMAN	Homo sapiens transmembrane protein 199 (TMEM199), mRNA.	153						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCTTCAATTTCATTGTCACGG	0.502000														7			62		0	0	0.00361006	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142264942	142264942	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:142264942A>T	uc011dbj.2	+	4	499	c.464A>T	c.(463-465)aAg>aTg	p.K155M	ARHGAP26_uc003lmt.3_Missense_Mutation_p.K155M|ARHGAP26_uc003lmw.3_Missense_Mutation_p.K155M	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	155					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTCCAAAAAGAAAGAATCT	0.358000														42			18		0	0	0.00121646	0	0
FAM83B	222584	broad.mit.edu	37	6	54806494	54806494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:54806494G>A	uc003pck.3	+	4	2841	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	909										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGTTACCCCTGAAAGAAGACC	0.458000														44			41		0	0	0.0025221	0	0
CNBD1	168975	broad.mit.edu	37	8	87917317	87917317	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:87917317T>A	uc003ydy.2	+	2	215	c.167T>A	c.(166-168)aTg>aAg	p.M56K		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	56										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGCCGGAGTATGAGCAATATC	0.333000														22			8		0	0	0.00307968	0	0
ASXL3	80816	broad.mit.edu	37	18	31311980	31311980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:31311980G>A	uc010dmg.1	+	8	983	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	ASXL3_uc002kxq.2_Missense_Mutation_p.E17K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	310					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						TCTAAATAATGAATTCTTTGC	0.378000														43			54		0	0	0.00361006	0	0
MXRA5	25878	broad.mit.edu	37	X	3241568	3241569	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:3241568_3241569GG>AA	uc004crg.4	-	4	2314_2315	c.2157_2158CC>TT	c.(2155-2160)gaccaa>gaTTaa	p.Q720*		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	720						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AACACCTCTTGGTCCTTTGGAT	0.475000														1			36		0	0	6.4e-05	0	0
MCHR2	84539	broad.mit.edu	37	6	100395740	100395740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:100395740C>T	uc003pqh.1	-	2	605	c.290G>A	c.(289-291)gGa>gAa	p.G97E	MCHR2_uc003pqi.1_Missense_Mutation_p.G97E	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	97						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G96E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACCCACTCTCCCCCTCGGGC	0.488000														9			69		0	0	0.00361006	0	0
SNRNP48	154007	broad.mit.edu	37	6	7595265	7595265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:7595265G>A	uc003mxr.3	+	3	396	c.337G>A	c.(337-339)Gac>Aac	p.D113N	SNRNP48_uc003mxs.3_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	113					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GACAGATAAGGACTCACAATT	0.323000														58			9		0	0	0.000673444	0	0
OR52N1	79473	broad.mit.edu	37	11	5809841	5809841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:5809841G>A	uc010qzo.2	-	0	206	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATCTGTGAAGGAAAGAAGGGC	0.458000														38			29		0	0	0.000878237	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407158	62407158	+	Silent	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62407158G>C	uc002ygv.2	-	2	1296	c.1095C>G	c.(1093-1095)acC>acG	p.T365T	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TGGCCACCGCGGTGGCCTGAT	0.652000														86			45		0	0	0.00361006	0	0
HOXB8	3218	broad.mit.edu	37	17	46690746	46690746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:46690746C>T	uc002inw.3	-	1	785	c.550G>A	c.(550-552)Gga>Aga	p.G184R	HOXB7_uc002inv.3_5'Flank	NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	184						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						TCTGTCAGTCCCAGGGCGTGC	0.512000														62			28		0	0	0.0024448	0	0
LAMA1	284217	broad.mit.edu	37	18	6956713	6956713	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:6956713G>A	uc002knm.3	-	55	8110	c.8016C>T	c.(8014-8016)acC>acT	p.T2672T	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.T125T|LAMA1_uc010wzj.2_Silent_p.T2148T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2672	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCCAGCAGGTGTCCAGGT	0.502000														9			52		0	0	0.00361006	0	0
OPHN1	4983	broad.mit.edu	37	X	67333082	67333082	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:67333082C>T	uc004dww.4	-	17	1656	c.1362_splice	c.e17-1	p.R454_splice	OPHN1_uc011mpg.2_Splice_Site_p.R454_splice	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	454	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGAAAGATTCCTGAAATGAAT	0.418000														1			8		0	0	0.000274275	0	0
DGKG	1608	broad.mit.edu	37	3	186024722	186024722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:186024722C>T	uc003fqa.3	-	2	649	c.112G>A	c.(112-114)Ggt>Agt	p.G38S	DGKG_uc003fqb.3_Missense_Mutation_p.G38S|DGKG_uc003fqc.3_Missense_Mutation_p.G38S|DGKG_uc011brx.2_Missense_Mutation_p.G38S	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	38					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.G38S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGGCTCCCACCCTCATTAAAT	0.393000														52			42		0	0	0.00361006	0	0
NMUR1	10316	broad.mit.edu	37	2	232389986	232389986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:232389986G>A	uc002vry.4	-	2	1159	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	350					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGGTTGGCCGCCGAGCCCAG	0.652000														53			46		0	0	0.00361006	0	0
FSD2	123722	broad.mit.edu	37	15	83434727	83434727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:83434727C>T	uc002bjd.2	-	9	1777	c.1610G>A	c.(1609-1611)aGc>aAc	p.S537N	FSD2_uc010uol.1_Missense_Mutation_p.S492N|FSD2_uc010uom.1_Missense_Mutation_p.S492N	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	537	Fibronectin type-III 2.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GATAATGTAGCTCCGCCCCGG	0.607000														8			15		0	0	0.000422831	0	0
NLRP14	338323	broad.mit.edu	37	11	7063772	7063772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:7063772C>T	uc001mfb.1	+	3	838	c.515C>T	c.(514-516)aCc>aTc	p.T172I		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	172					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.T172T(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GATGTCAAAACCGGTGCACAG	0.478000														24			23		0	0	0.00278032	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50188918	50188919	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:50188918_50188919CC>TT	uc009zlk.2	-	7	2926_2927	c.2724_2725GG>AA	c.(2722-2727)gaggtc>gaAAtc	p.V909I	NCKAP5L_uc001rvc.3_Missense_Mutation_p.V113I|NCKAP5L_uc001rvb.2_Missense_Mutation_p.V502I	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	905										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CGGTGCTTGACCTCGGCGCCAG	0.639000														25			15		0	0	6.4e-05	0	0
MGAM	8972	broad.mit.edu	37	7	141747669	141747669	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141747669G>A	uc003vwy.3	+	21	2637	c.2583G>A	c.(2581-2583)acG>acA	p.T861T		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	861	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGGGAAACGAAGGGTGAGC	0.458000														14			9		0	0	0.000274275	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262084	1262084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:1262084G>A	uc002cks.3	+	24	4953	c.4705G>A	c.(4705-4707)Gag>Aag	p.E1569K	CACNA1H_uc002ckt.3_Missense_Mutation_p.E1569K|CACNA1H_uc002cku.3_Missense_Mutation_p.E275K|CACNA1H_uc010brj.3_Missense_Mutation_p.E275K|CACNA1H_uc002ckv.3_Missense_Mutation_p.E275K	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1569					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGAGGCGGAGGAGGCGCGGCG	0.667000														52			27		0	0	0.00395357	0	0
C11orf85	283129	broad.mit.edu	37	11	64722257	64722257	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64722257T>G	uc001ocb.1	-	2	183	c.119A>C	c.(118-120)aAt>aCt	p.N40T	C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Missense_Mutation_p.N40T	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA.	40										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GACTTCCTTATTTTCTATCTC	0.403000														35			16		0	0	0.00074312	0	0
XRN2	22803	broad.mit.edu	37	20	21311265	21311265	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:21311265C>T	uc002wsf.1	+	5	593	c.498C>T	c.(496-498)ttC>ttT	p.F166F	XRN2_uc002wsg.1_Silent_p.F90F|XRN2_uc010zsk.1_Silent_p.F112F	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	166					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GAACTGAATTCATGGACAATC	0.328000														48			11		0	0	0.000673444	0	0
MAN2C1	4123	broad.mit.edu	37	15	75648741	75648741	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:75648741G>A	uc002bah.3	-	23	2855	c.2838C>T	c.(2836-2838)ttC>ttT	p.F946F	MIR631_uc021sqo.1_5'Flank|MAN2C1_uc010bkk.3_Silent_p.F830F|MAN2C1_uc002baf.3_Silent_p.F929F|MAN2C1_uc002bag.3_Intron			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	929					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCAACAGGGGGAAGTTTAGGC	0.617000														23			10		0	0	0.000978159	0	0
PCDH15	65217	broad.mit.edu	37	10	55591294	55591294	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:55591294C>T	uc010qhy.1	-	31	4394	c.3999_splice	c.e31-1	p.K1333_splice	PCDH15_uc010qhq.2_Splice_Site_p.K1333_splice|PCDH15_uc010qhr.2_Splice_Site_p.K1328_splice|PCDH15_uc021pqv.1_Splice_Site_p.K1328_splice|PCDH15_uc021pqw.1_Splice_Site_p.K1340_splice|PCDH15_uc010qht.2_Splice_Site_p.K1335_splice|PCDH15_uc021pqx.1_Splice_Site_p.K1328_splice|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Splice_Site_p.K1328_splice|PCDH15_uc021pqz.1_Splice_Site_p.K1306_splice|PCDH15_uc010qhv.1_Splice_Site_p.K1328_splice|PCDH15_uc010qhw.1_Splice_Site_p.K1291_splice|PCDH15_uc010qhx.1_Splice_Site_p.K1257_splice|PCDH15_uc010qhz.1_Splice_Site_p.K1328_splice|PCDH15_uc010qia.1_Splice_Site_p.K1306_splice|PCDH15_uc001jju.1_Splice_Site_p.K1328_splice|PCDH15_uc010qib.1_Splice_Site_p.K1306_splice	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1328					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCCAAAAATCTTTATTGTTA	0.338000										HNSCC(58;0.16)				10			20		0	0	0.00188189	0	0
CDH20	28316	broad.mit.edu	37	18	59206374	59206374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:59206374G>A	uc010dps.1	+	7	1678	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	CDH20_uc002lif.2_Missense_Mutation_p.G503E	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	509	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GCCAAGGCAGGACAGGTAAGG	0.453000														79			90		0	0	0.00361006	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55417934G>A	uc002qib.2	+	2	162	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_uc002qic.2_Missense_Mutation_p.E42K|NCR1_uc002qie.2_Missense_Mutation_p.E42K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000														57			73		0	0	0.00361006	0	0
WNT3	7473	broad.mit.edu	37	17	44845943	44845944	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:44845943_44845944CC>TT	uc002ikv.2	-	3	929_930	c.810_811GG>AA	c.(808-813)acggag>acAAag	p.E271K		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	271					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGTCCCTCTCCGTGGGTGGCT	0.589000														60			18		0	0	6.4e-05	0	0
HIF3A	64344	broad.mit.edu	37	19	46828875	46828875	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:46828875G>T	uc002peh.3	+	10	1450	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D	HIF3A_uc002peg.4_Missense_Mutation_p.E473D|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.E417D|HIF3A_uc002pej.2_Missense_Mutation_p.E404D|HIF3A_uc010xxy.2_Missense_Mutation_p.E404D|HIF3A_uc002pel.3_Missense_Mutation_p.E471D|HIF3A_uc010xxz.2_Missense_Mutation_p.E422D	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	473	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGGCAGTGGAGACAGATTTAG	0.512000														55			39		5.59293e-11	1.62786e-10	0.00148497	1	0
CACNA1G	8913	broad.mit.edu	37	17	48703397	48703398	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48703397_48703398CC>TT	uc002irk.1	+	37	6791_6792	c.6419_6420CC>TT	c.(6418-6420)tcc>tTT	p.S2140F	CACNA1G_uc002irj.1_Missense_Mutation_p.S2013F|CACNA1G_uc002irl.1_Missense_Mutation_p.S2024F|CACNA1G_uc002irm.1_Missense_Mutation_p.S2061F|CACNA1G_uc002irn.1_Missense_Mutation_p.S2006F|CACNA1G_uc002iro.1_Missense_Mutation_p.S2013F|CACNA1G_uc002irp.1_Missense_Mutation_p.S2095F|CACNA1G_uc002irq.1_Missense_Mutation_p.S2117F|CACNA1G_uc002irr.1_Missense_Mutation_p.S2047F|CACNA1G_uc002irs.1_Missense_Mutation_p.S2084F|CACNA1G_uc002irt.1_Missense_Mutation_p.S2029F|CACNA1G_uc002iru.1_Missense_Mutation_p.S2106F|CACNA1G_uc002irv.1_Missense_Mutation_p.S2036F|CACNA1G_uc002irw.1_Missense_Mutation_p.S2069F|CACNA1G_uc002irx.1_Missense_Mutation_p.S1960F|CACNA1G_uc002iry.1_Missense_Mutation_p.S1949F|CACNA1G_uc002isg.1_Missense_Mutation_p.S1908F|CACNA1G_uc002ish.1_Missense_Mutation_p.S1915F|CACNA1G_uc002isi.1_Missense_Mutation_p.S1903F|CACNA1G_uc002irz.1_Missense_Mutation_p.S1953F|CACNA1G_uc002isa.1_Missense_Mutation_p.S1926F|CACNA1G_uc002isd.1_Missense_Mutation_p.S1935F|CACNA1G_uc002isb.1_Missense_Mutation_p.S1967F|CACNA1G_uc002isc.1_Missense_Mutation_p.S2042F|CACNA1G_uc002ise.1_Missense_Mutation_p.S1963F|CACNA1G_uc002isf.1_Missense_Mutation_p.S1990F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2140					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGACTGACTCCTTGGACGTTC	0.649000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			40		0	0	6.4e-05	0	0
CDRT15P1	94158	broad.mit.edu	37	17	13928350	13928350	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:13928350G>A	uc002god.1	+	0		c.536G>A								Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA.																		TCCAGCCAAGGACCAGACCAA	0.602000														3			43		0	0	0.00361006	0	0
SPAG9	9043	broad.mit.edu	37	17	49052262	49052262	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:49052262G>A	uc002itc.3	-	27	3779	c.3570C>T	c.(3568-3570)atC>atT	p.I1190I	SPAG9_uc002itd.3_Silent_p.I1180I|SPAG9_uc002itb.3_Silent_p.I1176I|SPAG9_uc002ita.3_Silent_p.I1046I	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	1190					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CATATACACGGATTACACTTC	0.413000														21			29		0	0	0.001512	0	0
SAMD4A	23034	broad.mit.edu	37	14	55251268	55251268	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:55251268C>T	uc001xbb.3	+	10	2363	c.2055C>T	c.(2053-2055)ccC>ccT	p.P685P	SAMD4A_uc001xbc.3_Silent_p.P598P|SAMD4A_uc001xbg.2_Silent_p.P313P	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	686					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCCAGCTTCCCGTGACCGAAC	0.542000														69			35		0	0	0.00170553	0	0
F8	2157	broad.mit.edu	37	X	154182201	154182201	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:154182201C>T	uc004fmt.3	-	11	2040	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	623	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACTCTGGATCCTCAAGCTGCA	0.438000														9			82		0	0	0.00361006	0	0
IL31RA	133396	broad.mit.edu	37	5	55212752	55212752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:55212752C>T	uc003jql.3	+	14	2291	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.S681F|IL31RA_uc003jqo.3_Missense_Mutation_p.S558F	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	668					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCCAGAAAATCCCAATACCTA	0.512000														60			41		0	0	0.00148497	0	0
LPHN2	23266	broad.mit.edu	37	1	82409080	82409080	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:82409080C>T	uc001dit.4	+	5	1006	c.825C>T	c.(823-825)gtC>gtT	p.V275V	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.V275V|LPHN2_uc001div.3_Silent_p.V275V|LPHN2_uc009wcd.3_Silent_p.V275V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	275	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTTTATGGGTCATTTACGCCA	0.418000														26			56		0	0	0.00361006	0	0
C5orf45	51149	broad.mit.edu	37	5	179269064	179269064	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:179269064C>T	uc003mla.3	-	5	336	c.292_splice	c.e5-1	p.E98_splice	C5orf45_uc003mky.2_Splice_Site_p.E95_splice|C5orf45_uc011dgt.1_Splice_Site_p.E98_splice|C5orf45_uc011dgu.1_Splice_Site_p.E43_splice|C5orf45_uc003mlc.3_Splice_Site_p.E43_splice|C5orf45_uc003mlb.3_Splice_Site|C5orf45_uc021yjh.1_5'Flank	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	98										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						TGCGATTTTTCCTGCCAGATT	0.488000														239			10		0	0	0.000673444	0	0
ODZ4	26011	broad.mit.edu	37	11	78412817	78412817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:78412817C>T	uc001ozl.4	-	27	5304	c.4841G>A	c.(4840-4842)gGg>gAg	p.G1614E		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1614					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTCGCCGTCCCCAGTGTAGGT	0.547000														46			63		0	0	0.00361006	0	0
TMEM215	401498	broad.mit.edu	37	9	32784861	32784861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:32784861G>A	uc022bfh.1	+	0	680	c.680G>A	c.(679-681)gGc>gAc	p.G227D	TMEM215_uc003zri.4_Missense_Mutation_p.G227D	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	227						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CAGATACAAGGCAGGTGGGAC	0.473000														4			33		0	0	0.0024448	0	0
HRNR	388697	broad.mit.edu	37	1	152187684	152187684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152187684C>T	uc001ezt.1	-	2	6497	c.6421G>A	c.(6421-6423)Gga>Aga	p.G2141R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2141					keratinization		calcium ion binding|protein binding	p.G2141E(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGACTGTCCTGATCTAGAG	0.587000														667			49		0	0	0.00361006	0	0
SLC11A2	4891	broad.mit.edu	37	12	51382183	51382183	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:51382183G>A	uc001rxk.2	-	15	1748	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	SLC11A2_uc001rxd.4_Silent_p.F386F|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Silent_p.F537F|SLC11A2_uc001rxc.4_Silent_p.F537F|SLC11A2_uc001rxg.2_Silent_p.F150F|SLC11A2_uc010smx.2_Silent_p.F533F|SLC11A2_uc001rxh.2_Silent_p.F537F|SLC11A2_uc010smy.2_Silent_p.F500F|SLC11A2_uc001rxj.2_Silent_p.F537F|SLC11A2_uc001rxi.3_Silent_p.F537F	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	537					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CACAGTCCAGGAAGGACATGC	0.488000														42			34		0	0	0.00148497	0	0
HAMP	57817	broad.mit.edu	37	19	35775857	35775857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:35775857G>A	uc002nyw.3	+	2	238	c.167G>A	c.(166-168)cGa>cAa	p.R56Q		NM_021175	NP_066998	P81172	HEPC_HUMAN	Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.	56					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	p.R56*(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTCCAGAGGCGAAGGAGGCGA	0.582000														44			37		0	0	0.00222228	0	0
SLC9B1	150159	broad.mit.edu	37	4	103866440	103866440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:103866440G>A	uc003hww.3	-	5	705	c.563C>T	c.(562-564)gCt>gTt	p.A188V	SLC9B1_uc003hwu.3_Missense_Mutation_p.A188V|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	188						integral to membrane	solute:hydrogen antiporter activity										TGGACCTACAGCCAATCTGAA	0.383000														64			32		0	0	0.00128727	0	0
SDK2	54549	broad.mit.edu	37	17	71334736	71334736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:71334736G>A	uc010dfm.3	-	44	6509	c.6509C>T	c.(6508-6510)tCa>tTa	p.S2170L	SDK2_uc002jjt.4_Missense_Mutation_p.S1310L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	2170					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCAAACAAATGATGAAAATCC	0.552000														16			7		0	0	0.00307968	0	0
SLC9A9	285195	broad.mit.edu	37	3	143550971	143550971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:143550971G>A	uc003evn.3	-	1	477	c.268C>T	c.(268-270)Cca>Tca	p.P90S	SLC9A9_uc011bnk.2_Intron	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	90					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGAGTTGATGGACTGAAAGTT	0.338000														66			46		0	0	0.00361006	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	148007	148007	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrGL000192.1:148007G>A	uc010yih.1	-	12		c.2678C>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				TGACAGCTGGGAAATGGTTCC	0.522000														10			5		0	0	0.00116845	0	0
RINT1	60561	broad.mit.edu	37	7	105205745	105205745	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:105205745G>A	uc003vda.1	+	12	2139	c.1908G>A	c.(1906-1908)caG>caA	p.Q636Q	RINT1_uc010ljj.1_Silent_p.Q211Q|EFCAB10_uc003vdb.3_3'UTR|BC007100_uc003vdd.1_5'Flank	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	636	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGCCATCTCAGTCAGAGCAGG	0.403000														94			19		0	0	0.00121646	0	0
CNTN5	53942	broad.mit.edu	37	11	100179157	100179157	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:100179157G>A	uc001pga.3	+	20	3191	c.2687G>A	c.(2686-2688)tGg>tAg	p.W896*	CNTN5_uc001pfz.3_Nonsense_Mutation_p.W896*|CNTN5_uc021qpb.1_Nonsense_Mutation_p.W896*|CNTN5_uc021qpc.1_Nonsense_Mutation_p.W822*|CNTN5_uc010ruk.2_Nonsense_Mutation_p.W167*	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	896	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTGTTGCATGGAAACACATT	0.393000														3			22		0	0	0.00395357	0	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859583	31859583	+	Missense_Mutation	SNP	C	T	T	rs137856992	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:31859583C>T	uc011acy.2	-	0	85	c.85G>A	c.(85-87)Ggc>Agc	p.G29S		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	Homo sapiens keratin associated protein 19-2 (KRTAP19-2), mRNA.	29						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCTCTGTGGCCACAACCATAT	0.532000														122			80		0	0	0.00361006	0	0
TOP1	7150	broad.mit.edu	37	20	39741563	39741563	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:39741563A>T	uc002xjl.3	+	13	1696	c.1450A>T	c.(1450-1452)Aag>Tag	p.K484*	BC035080_uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	484					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding	p.K484N(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CTTCATCGACAAGGTGAGAGC	0.488000			T	NUP98	AML*									24			32		0	0	0.00283554	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235936	63235936	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:63235936C>T	uc001nwy.2	-	4	550	c.376_splice	c.e4-1	p.G126_splice	HRASLS5_uc001nwz.2_Splice_Site_p.G116_splice|HRASLS5_uc010rmq.1_Splice_Site_p.G126_splice|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	126										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCTTGGTTTTCCCTATAATGG	0.453000														19			36		0	0	0.000814825	0	0
ADH7	131	broad.mit.edu	37	4	100349317	100349317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:100349317G>A	uc003huv.2	-	3	551	c.310C>T	c.(310-312)Cct>Tct	p.P104S	ADH7_uc021xqj.1_Missense_Mutation_p.P112S	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	104					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	AGAAAGAGAGGGATGACTTTG	0.358000														55			35		0	0	0.00327116	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634988	70634988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:70634988G>A	uc001xly.3	-	1	906	c.152C>T	c.(151-153)tCa>tTa	p.S51L	SLC8A3_uc001xlw.3_Missense_Mutation_p.S51L|SLC8A3_uc001xlx.3_Missense_Mutation_p.S51L|SLC8A3_uc001xlz.3_Missense_Mutation_p.S51L|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	51					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCAGTCCGATGACCCTGAACA	0.557000														14			24		0	0	0.000720815	0	0
RAD23A	5886	broad.mit.edu	37	19	13059062	13059062	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:13059062C>T	uc002mvw.1	+	2	415	c.306C>T	c.(304-306)tcC>tcT	p.S102S	RAD23A_uc002mvz.1_Silent_p.S102S|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	102					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCTCTACATCCTTCCCGCCTG	0.642000								Nucleotide excision repair (NER)						24			8		0	0	0.000274275	0	0
SPTB	6710	broad.mit.edu	37	14	65233428	65233428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:65233428G>A	uc001xht.3	-	30	6412	c.6361C>T	c.(6361-6363)Cgt>Tgt	p.R2121C	SPTB_uc001xhr.3_Intron|SPTB_uc001xhs.3_Intron|SPTB_uc001xhu.3_Missense_Mutation_p.R2121C|SPTB_uc010aqi.3_Intron	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	2121					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)		CTAGACAAACGAGACCAGAGA	0.637000														112			36		0	0	0.000953801	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97397094	97397094	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:97397094G>A	uc001kkz.3	-	3	645	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	ALDH18A1_uc001kky.3_Nonsense_Mutation_p.Q135*|ALDH18A1_uc010qog.2_Nonsense_Mutation_p.Q24*|ALDH18A1_uc010qoh.2_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	135	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CGCACGCTCTGAGACAGAAGG	0.552000														45			6		0	0	0.00198382	0	0
PPY	5539	broad.mit.edu	37	17	42018914	42018914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:42018914G>A	uc002iep.3	-	1	154	c.109C>T	c.(109-111)Cca>Tca	p.P37S		NM_002722	NP_002713	P01298	PAHO_HUMAN	Homo sapiens pancreatic polypeptide (PPY), mRNA.	37					digestion|protein secretion	extracellular region	hormone activity			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTGTCCCCTGGGTACACTGGC	0.612000														51			17		0	0	0.000566183	0	0
CCDC60	160777	broad.mit.edu	37	12	119909887	119909887	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:119909887C>T	uc001txe.3	+	2	724	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	87										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)		ACAACAACTTCAGAAACTGAA	0.428000														100			50		0	0	0.00361006	0	0
NGLY1	55768	broad.mit.edu	37	3	25805596	25805596	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:25805596G>A	uc003cdl.3	-	2	561	c.453C>T	c.(451-453)aaC>aaT	p.N151N	NGLY1_uc010hfg.3_Silent_p.N151N|NGLY1_uc003cdm.3_Silent_p.N151N|NGLY1_uc011awo.2_Silent_p.N109N|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	151					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GCCCTTGACGGTTCCTTGTGT	0.438000														60			16		0	0	0.00074312	0	0
SIX4	51804	broad.mit.edu	37	14	61180337	61180337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:61180337G>A	uc001xfc.3	-	2	2194	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	712						nucleus		p.R712L(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGAACCAAACGATGTTCTTGG	0.443000														30			15		0	0	0.00316338	0	0
SSFA2	6744	broad.mit.edu	37	2	182783380	182783380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:182783380C>T	uc002uoi.3	+	11	3165	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	SSFA2_uc002uoh.3_Missense_Mutation_p.S948L|SSFA2_uc002uoj.3_Missense_Mutation_p.S948L|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.S795L|SSFA2_uc002uol.3_Missense_Mutation_p.S795L|SSFA2_uc002uom.3_Missense_Mutation_p.S416L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	948						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCAGAAATCATCTGTTCTA	0.313000														62			30		0	0	0.00375469	0	0
DAGLA	747	broad.mit.edu	37	11	61507965	61507965	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:61507965T>C	uc001nsa.3	+	17	2000	c.1884T>C	c.(1882-1884)ttT>ttC	p.F628F		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	628					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCACATACTTTGCCATCTGGG	0.607000														88			47		0	0	0.00361006	0	0
GLI1	2735	broad.mit.edu	37	12	57865042	57865042	+	Missense_Mutation	SNP	G	A	A	rs138706434	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:57865042G>A	uc001snx.3	+	11	2613	c.2519G>A	c.(2518-2520)gGg>gAg	p.G840E	GLI1_uc021qzi.1_Missense_Mutation_p.G799E|GLI1_uc009zpq.3_Missense_Mutation_p.G712E	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	840					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCAGTGAGGGGCCCCCACAT	0.587000														27			30		0	0	0.00375469	0	0
TM7SF3	51768	broad.mit.edu	37	12	27127114	27127114	+	Silent	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:27127114A>G	uc010sjl.2	-	11	1735	c.1497T>C	c.(1495-1497)atT>atC	p.I499I		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	499						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCTGTAACGTAATTCCACTTA	0.428000														24			24		0	0	0.00332997	0	0
C19orf18	147685	broad.mit.edu	37	19	58477955	58477955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58477955G>A	uc002qqv.3	-	3	416	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	105						integral to membrane		p.S105L(2)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GGCTACGCTCGAAATTAAAAT	0.348000														23			67		0	0	0.00361006	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027470	55027470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:55027470G>A	uc002lgn.3	+	3	1462	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	369					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AATGCATGGGGAAGGGCTCAC	0.473000														24			12		0	0	0.00244969	0	0
PDE1A	5136	broad.mit.edu	37	2	183095838	183095838	+	Silent	SNP	G	A	A	rs142773553		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:183095838G>A	uc002uos.3	-	5	570	c.486C>T	c.(484-486)ttC>ttT	p.F162F	PDE1A_uc010zfp.1_Silent_p.F58F|PDE1A_uc002uoq.1_Silent_p.F162F|PDE1A_uc010zfq.1_Silent_p.F162F|PDE1A_uc002uor.3_Silent_p.F146F|PDE1A_uc002uou.3_Silent_p.F128F	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	162					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CAAATACATCGAAAGACCATT	0.328000														84			58		0	0	0.00361006	0	0
CATSPER1	117144	broad.mit.edu	37	11	65790384	65790384	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65790384G>A	uc001ogt.3	-	1	1503	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	455					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGCAGACAACGAAGAAGATGA	0.552000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			20		0	0	0.00152264	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786742	121786742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:121786742C>T	uc003ksw.1	+	9	2406	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	SNCAIP_uc011cwl.1_Missense_Mutation_p.P292S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P368S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P781S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P368S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P330S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P368S|SNCAIP_uc003kta.1_Missense_Mutation_p.P366S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P428S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P674S|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P250S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	734					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)		ACGCAGGTTTCCTTTCAGCAT	0.547000														14			34		0	0	0.00283554	0	0
SART3	9733	broad.mit.edu	37	12	108939021	108939021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:108939021G>A	uc001tmz.1	-	3	858	c.623C>T	c.(622-624)tCc>tTc	p.S208F	SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.S208F|SART3_uc010swy.1_Missense_Mutation_p.S76F|SART3_uc010swz.1_Missense_Mutation_p.S208F|SART3_uc001tna.1_Non-coding_Transcript	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	208					RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCAAACACGGAGCGAACTTT	0.468000									Porokeratosis					40			44		0	0	0.00285205	0	0
SCAF1	58506	broad.mit.edu	37	19	50156105	50156105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50156105C>T	uc002poq.3	+	6	2583	c.2459C>T	c.(2458-2460)tCa>tTa	p.S820L		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	820	Ser-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCAGGCTCTTCATCCTCGTCG	0.657000														39			8		0	0	0.000442599	0	0
SPAG7	9552	broad.mit.edu	37	17	4863768	4863768	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:4863768G>A	uc002gae.3	-	2	261	c.228C>T	c.(226-228)atC>atT	p.I76I	SPAG7_uc002gaf.3_Silent_p.I76I	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	76	R3H.					nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGCTCCTCTCGATCTTGTTCA	0.552000														10			205		0	0	0.00361006	0	0
UBE3B	89910	broad.mit.edu	37	12	109936079	109936079	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:109936079C>T	uc001top.3	+	10	1464	c.861C>T	c.(859-861)ttC>ttT	p.F287F	UBE3B_uc001toq.3_Silent_p.F287F|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.F287F	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	287					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TTCGTAAATTCATCATATTTT	0.418000														112			55		0	0	0.00361006	0	0
PRSS37	136242	broad.mit.edu	37	7	141536973	141536973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141536973C>T	uc003vws.2	-	3	878	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PRSS37_uc011krl.2_Missense_Mutation_p.G168E|PRSS37_uc011krk.2_Missense_Mutation_p.G156E|PRSS37_uc003vwt.2_Missense_Mutation_p.G156E	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTGGCTTTTTCCTTGTTCTGT	0.433000														115			23		0	0	0.00278032	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17143761	17143761	+	Silent	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:17143761A>G	uc001mmq.4	-	13	2696	c.2631T>C	c.(2629-2631)gaT>gaC	p.D877D	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.D497D|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	877					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TATGAAGAATATCAAGAAGTT	0.308000														64			28		0	0	0.001512	0	0
TFR2	7036	broad.mit.edu	37	7	100229759	100229759	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100229759G>A	uc003uvv.1	-	6	981	c.912C>T	c.(910-912)ttC>ttT	p.F304F	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.F133F	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	304					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGTCCTGGGAGAAGTCCGCTG	0.602000														96			48		0	0	0.00361006	0	0
ZNF521	25925	broad.mit.edu	37	18	22804973	22804973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:22804973G>A	uc002kvk.2	-	3	3156	c.2909C>T	c.(2908-2910)tCc>tTc	p.S970F	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.S970F|ZNF521_uc002kvl.2_Missense_Mutation_p.S750F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	970					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTTAAAAGGGAGGGAAACCG	0.488000			T	PAX5	ALL									29			35		0	0	0.00170553	0	0
ADAM2	2515	broad.mit.edu	37	8	39678582	39678582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:39678582G>A	uc003xnj.3	-	5	527	c.452C>T	c.(451-453)tCc>tTc	p.S151F	ADAM2_uc003xnk.3_Missense_Mutation_p.S151F|ADAM2_uc011lck.2_Missense_Mutation_p.S151F|ADAM2_uc003xnl.3_Missense_Mutation_p.S151F	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	151					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S151F(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATTATATAAGGAAACATCTGC	0.323000														60			34		0	0	0.00375469	0	0
AOX1	316	broad.mit.edu	37	2	201473810	201473810	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201473810C>T	uc002uvx.3	+	10	1112	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	AOX1_uc010zhf.2_5'Flank|AOX1_uc010fsu.3_5'Flank	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	337	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACCATGCTCTCCTGAAGCATT	0.512000														28			33		0	0	0.00283554	0	0
FAM65C	140876	broad.mit.edu	37	20	49219013	49219013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:49219013C>T	uc010zyt.2	-	12	1506	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E415K|FAM65C_uc002xvn.1_Missense_Mutation_p.E415K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	415										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGCTGGTCTCCGTGTCTCGG	0.642000														53			72		0	0	0.00361006	0	0
ZNF17	7565	broad.mit.edu	37	19	57932645	57932645	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57932645C>T	uc002qop.1	+	3	2057	c.1791C>T	c.(1789-1791)tcC>tcT	p.S597S	ZNF17_uc021vck.1_Silent_p.S588S|ZNF17_uc002qoo.1_Silent_p.S595S	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGGACAGCTCCACACTCATTA	0.398000														34			41		0	0	0.00195071	0	0
NELL1	4745	broad.mit.edu	37	11	20805360	20805360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:20805360C>T	uc009yid.3	+	3	556	c.403C>T	c.(403-405)Cga>Tga	p.R135*	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Nonsense_Mutation_p.R107*|NELL1_uc001mqf.3_Nonsense_Mutation_p.R107*|NELL1_uc010rdo.2_Nonsense_Mutation_p.R107*	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	107	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R107*(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACTGTCCATTCGAGAACTGGA	0.418000														22			42		0	0	0.00222228	0	0
MBL2	4153	broad.mit.edu	37	10	54531369	54531369	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:54531369G>A	uc001jjt.3	-	0	92	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	9					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCAGGAGAAGGAGAGGGAGTG	0.502000														13			14		0	0	0.00316338	0	0
SSH1	54434	broad.mit.edu	37	12	109182671	109182672	+	Missense_Mutation	DNP	GG	TT	TT	rs141317554		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:109182671_109182672GG>TT	uc001tnm.3	-	14	2329_2330	c.2242_2243CC>AA	c.(2242-2244)cca>AAa	p.P748K	SSH1_uc001tnl.3_Missense_Mutation_p.P436K	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	748					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGACTTTTGGGGTCTCTCTG	0.545000														114			7		0	0	6.4e-05	0	0
SPATA9	83890	broad.mit.edu	37	5	95011280	95011280	+	Nonsense_Mutation	SNP	G	A	A	rs114848300	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:95011280G>A	uc003klj.1	-	2	370	c.214C>T	c.(214-216)Cga>Tga	p.R72*	SPATA9_uc010jbh.1_Non-coding_Transcript|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	Homo sapiens spermatogenesis associated 9 (SPATA9), mRNA.	72					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R72L(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AATGTTGCTCGATTAATCTTA	0.393000														30			42		0	0	0.00321405	0	0
CACNA1A	773	broad.mit.edu	37	19	13476261	13476261	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:13476261C>T	uc002mwy.3	-	4	890	c.654G>A	c.(652-654)tcG>tcA	p.S218S	CACNA1A_uc010xnd.2_Silent_p.S218S|CACNA1A_uc021ups.1_Silent_p.S218S|CACNA1A_uc010xne.2_Silent_p.S218S|CACNA1A_uc010dze.2_Silent_p.S218S|CACNA1A_uc021upt.1_Silent_p.S218S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	218			S -> L (in FHM1; dbSNP:rs121908225).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTTCATGATCGACTTCAGGA	0.493000														29			16		0	0	0.000958276	0	0
AOX1	316	broad.mit.edu	37	2	201507454	201507454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201507454C>T	uc002uvx.3	+	24	2878	c.2777C>T	c.(2776-2778)cCt>cTt	p.P926L	AOX1_uc010zhf.2_Missense_Mutation_p.P482L|AOX1_uc010fsu.3_Missense_Mutation_p.P292L	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	926					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTGGCTTTCCTCAGGCAGCG	0.483000														46			62		0	0	0.00361006	0	0
COL6A5	256076	broad.mit.edu	37	3	130188260	130188260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:130188260G>A	uc010htj.1	+	37	7906	c.7412G>A	c.(7411-7413)cGa>cAa	p.R2471Q	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R510Q|COL6A5_uc010htk.1_Missense_Mutation_p.R510Q	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2471	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAACTTGGCCGAACCCACAAG	0.393000														21			31		0	0	0.0024448	0	0
STON2	85439	broad.mit.edu	37	14	81743428	81743428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:81743428G>A	uc010tvu.2	-	3	2425	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C	STON2_uc001xvk.1_Missense_Mutation_p.R743C|STON2_uc010tvt.2_Missense_Mutation_p.R540C	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	743	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.R743H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CTTTCCCTGCGGAAGTTTTTC	0.537000														79			27		0	0	0.00106085	0	0
SLC6A12	6539	broad.mit.edu	37	12	305415	305416	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:305415_305416CC>TT	uc001qhz.3	-	12	1864_1865	c.1200_1201GG>AA	c.(1198-1203)gtggag>gtAAag	p.E401K	SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Missense_Mutation_p.E401K|SLC6A12_uc001qib.3_Missense_Mutation_p.E401K|SLC6A12_uc009zdh.2_Missense_Mutation_p.E401K	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	401					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ACCAGGCACTCCACACAGACAA	0.639000														6			18		0	0	6.4e-05	0	0
LRP1	4035	broad.mit.edu	37	12	57574159	57574160	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:57574159_57574160CG>AT	uc001snd.3	+	31	5749_5750	c.5283_5284CG>AT	c.(5281-5286)tccggg>tcATgg	p.G1762W		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1762					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGATCAGCTCCGGGAACCATAC	0.619000														176			10		0	0	6.4e-05	0	0
NDE1	54820	broad.mit.edu	37	16	15790720	15790720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:15790720C>T	uc002ddt.1	+	6	993	c.950C>T	c.(949-951)tCa>tTa	p.S317L	NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA.	320					G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GATAAGGGGTCAGTACCTTCT	0.582000														18			10		0	0	0.000442599	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48133942	48133942	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:48133942G>A	uc001rpz.4	-	22	2905	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_Silent_p.S78S|RAPGEF3_uc001rpx.3_Silent_p.S200S|RAPGEF3_uc010sln.2_Silent_p.S240S|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Silent_p.S743S|RAPGEF3_uc009zkq.3_Silent_p.S743S	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	743					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TCTCGAGGGCGGAGTACAGCT	0.667000														9			20		0	0	0.00395357	0	0
LOC440040	440040	broad.mit.edu	37	11	49597918	49597918	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:49597918T>A	uc010rhy.2	+	1	509	c.31T>A	c.(31-33)Ttt>Att	p.F11I	LOC440040_uc009ymb.3_Missense_Mutation_p.F11I					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TGGAGCTCTCTTTTCTGTTCA	0.512000														5			14		0	0	0.00244969	0	0
HS1BP3	64342	broad.mit.edu	37	2	20840835	20840835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:20840835C>T	uc002rdw.1	-	2	345	c.304G>A	c.(304-306)Gag>Aag	p.E102K	HS1BP3_uc002rdx.3_Missense_Mutation_p.E102K|HS1BP3_uc002rdy.3_Missense_Mutation_p.E102K	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	102	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTCAGACTCCCCAACAAAC	0.547000														101			48		0	0	0.00361006	0	0
EPHB6	2051	broad.mit.edu	37	7	142566359	142566359	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142566359C>T	uc011kst.2	+	14	2935	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	EPHB6_uc011ksu.2_Silent_p.F716F|EPHB6_uc003wbs.3_Silent_p.F424F|EPHB6_uc003wbt.3_Silent_p.F190F|EPHB6_uc003wbu.3_Silent_p.F424F|EPHB6_uc003wbv.3_Silent_p.F100F	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	716	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGATGACCTTCCTGGGCCGGG	0.697000														25			7		0	0	0.00198382	0	0
ACE	1636	broad.mit.edu	37	17	61557834	61557834	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:61557834C>T	uc002jau.2	+	4	826	c.792C>T	c.(790-792)cgC>cgT	p.R264R	ACE_uc010wpi.2_Silent_p.R264R|ACE_uc010ddu.2_Silent_p.R81R	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	264	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)	CACTGCATCGCCGATACGGAG	0.597000														39			47		0	0	0.00361006	0	0
C11orf9	745	broad.mit.edu	37	11	61543821	61543821	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:61543821G>A	uc001nsc.1	+	9	1512	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	C11orf9_uc001nse.1_Silent_p.T463T|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	472					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						AGCAGGTCACGAAGGTGACTG	0.657000											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			7		0	0	0.000442599	0	0
ZNF418	147686	broad.mit.edu	37	19	58437585	58437585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58437585G>A	uc002qqs.1	-	3	2256	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.S570L	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCGATGAAATGATTTTCCACA	0.413000														113			21		0	0	0.00152264	0	0
EHF	26298	broad.mit.edu	37	11	34664228	34664228	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:34664228C>T	uc021qfu.1	+	1	243	c.117C>T	c.(115-117)ctC>ctT	p.L39L	EHF_uc001mvr.2_Silent_p.L17L|EHF_uc009yke.2_Silent_p.L17L|EHF_uc009ykf.2_Silent_p.L20L	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	17	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F38fs*51(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GCAACAACCTCCTTCACCAGC	0.537000														26			13		0	0	0.00244969	0	0
ABCA2	20	broad.mit.edu	37	9	139905466	139905466	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:139905466G>A	uc004ckm.1	-	38	6152	c.6102C>T	c.(6100-6102)ctC>ctT	p.L2034L	ABCA2_uc022bpy.1_Silent_p.L1935L|ABCA2_uc022bpz.1_Silent_p.L2005L|ABCA2_uc011mem.1_Silent_p.L2004L|ABCA2_uc004ckl.1_Silent_p.L1935L|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	2004					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGATGGTCAGGAGGAAGCCCA	0.677000														3			13		0	0	0.00185496	0	0
TMC3	342125	broad.mit.edu	37	15	81637258	81637258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:81637258G>A	uc021ssk.1	-	12	1367	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	TMC3_uc021ssj.1_Missense_Mutation_p.S456F|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.S456F	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	456						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCCAGGCCGAGATGTGGACCA	0.483000														14			13		0	0	0.00316338	0	0
TRIM71	131405	broad.mit.edu	37	3	32932199	32932199	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:32932199G>A	uc003cff.3	+	3	1566	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	501					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						TCCAGGGTAAGGTGGCCTCCT	0.602000														17			14		0	0	0.00316338	0	0
CDH26	60437	broad.mit.edu	37	20	58567442	58567442	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:58567442G>A	uc002ybe.3	+	9	1604	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	CDH26_uc002ybf.1_Silent_p.L11L|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GATATGAACTGGTTCATGACC	0.363000														39			18		0	0	0.000566183	0	0
FAIM	55179	broad.mit.edu	37	3	138341065	138341065	+	Silent	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:138341065G>T	uc003esr.3	+	2	407	c.147G>T	c.(145-147)gtG>gtT	p.V49V	FAIM_uc003eso.1_Silent_p.V83V|FAIM_uc003esq.3_Silent_p.V71V|FAIM_uc003esp.3_Silent_p.V83V|FAIM_uc003ess.3_Silent_p.V49V	NM_001033032	NP_060617	Q9NVQ4	FAIM1_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA.	49					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TCAAATTAGTGGGCAAAGAAA	0.299000														395			13		0.00244969	0.00704821	0.00244969	1	0
ATG9A	79065	broad.mit.edu	37	2	220089007	220089007	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:220089007G>A	uc002vke.1	-	7	1272	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Silent_p.S362S	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	362					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATGTACTTGGAGGCGGGCT	0.577000														80			37		0	0	0.000814825	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455191	187455191	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:187455191C>T	uc003izd.1	-	1	723	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	235					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGACAAAATTCCTGAAGTCCT	0.502000														14			29		0	0	0.00178596	0	0
TRPS1	7227	broad.mit.edu	37	8	116631597	116631597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:116631597C>T	uc003yny.3	-	2	1306	c.728G>A	c.(727-729)gGt>gAt	p.G243D	TRPS1_uc011lhy.2_Missense_Mutation_p.G234D|TRPS1_uc003ynz.3_Missense_Mutation_p.G230D|TRPS1_uc010mcy.3_Missense_Mutation_p.G230D	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	230					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCCGTAGTAACCATATCCACA	0.468000									Langer-Giedion syndrome					138			55		0	0	0.00361006	0	0
UNC79	57578	broad.mit.edu	37	14	94152932	94152932	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:94152932G>A	uc001ybv.1	+	41	6569	c.6486G>A	c.(6484-6486)gcG>gcA	p.A2162A	UNC79_uc001ybs.1_Silent_p.A2140A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2317						integral to membrane		p.A2339A(1)|p.A2140A(1)|p.K2161N(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGACTGCAGCGATGGAGTGTG	0.507000														34			15		0	0	0.000422831	0	0
CDH8	1006	broad.mit.edu	37	16	61854962	61854962	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:61854962C>T	uc002eog.2	-	5	1846	c.891G>A	c.(889-891)agG>agA	p.R297R	CDH8_uc002eoh.3_Silent_p.R66R	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	297	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGCCTTCACCCTTCCTATTG	0.423000														21			23		0	0	0.00278032	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368978	86368978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:86368978C>T	uc001vll.1	-	1	2125	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	SLITRK6_uc021rla.1_Missense_Mutation_p.E556K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	556	LRRCT 2.					integral to membrane		p.E556K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCTTTCAATTCCTTTTTGTCG	0.453000														30			38		0	0	0.00148497	0	0
CUL3	8452	broad.mit.edu	37	2	225360606	225360606	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:225360606G>A	uc010fwy.1	-	12	1856	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	CUL3_uc010zls.1_Silent_p.S529S|CUL3_uc002vny.2_Silent_p.S595S	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	595					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCTGGAAAGTGGAAACTTGCA	0.328000														47			59		0	0	0.00361006	0	0
NUP188	23511	broad.mit.edu	37	9	131745768	131745768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:131745768C>T	uc004bws.1	+	18	1922	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	634					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GACTGATCTTCGTCACACAGG	0.478000														4			19		0	0	0.00121646	0	0
SCN1A	6323	broad.mit.edu	37	2	166848475	166848475	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:166848475G>A	uc002udo.4	-	27	5537	c.5310C>T	c.(5308-5310)atC>atT	p.I1770I	SCN1A_uc010fpk.3_Silent_p.I1742I|SCN1A_uc021vsb.1_Silent_p.I1759I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1770						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGATATGATGATGTAACTGA	0.463000														85			66		0	0	0.00361006	0	0
NOTCH1	4851	broad.mit.edu	37	9	139390979	139390979	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:139390979C>T	uc004chz.3	-	33	7212	c.7212G>A	c.(7210-7212)caG>caA	p.Q2404Q		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2404	Poly-Gln.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N2402_I2403>GPSLNN(1)|p.Q2404*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCTTTGCTGCTGCTGGATGT	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				3			42		0	0	0.00195071	0	0
NBEAL1	65065	broad.mit.edu	37	2	203972603	203972604	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:203972603_203972604GG>TT	uc002uzt.3	+	12	1887_1888	c.1554_1555GG>TT	c.(1552-1557)ttgggg>ttTTgg	p.518_519LG>FW		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	518							binding	p.R519S(1)|p.R519H(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATGGTTCCTTGGGGAGTCAGTC	0.460000														607			13		0	0	6.4e-05	0	0
C20orf85	128602	broad.mit.edu	37	20	56735719	56735719	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:56735719C>T	uc002xyv.3	+	3	293	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	85								p.V85V(2)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CATTCCAGGTCTTTCCATCCC	0.567000														34			13		0	0	0.00185496	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558349	113558349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:113558349C>T	uc010ljy.1	-	0	734	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	235					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGCTCTTGTTCTTTCTTTTGA	0.333000														170			47		0	0	0.00361006	0	0
IDE	3416	broad.mit.edu	37	10	94268591	94268591	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:94268591G>A	uc001kia.3	-	6	1030	c.954C>T	c.(952-954)ccC>ccT	p.P318P		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	318					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTCAGGTATGGGAAATGTCA	0.368000														63			299		0	0	0.00361006	0	0
ZNF709	163051	broad.mit.edu	37	19	12575850	12575850	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:12575850G>A	uc002mtv.4	-	3	1047	c.886C>T	c.(886-888)Cga>Tga	p.R296*	ZNF709_uc002mtw.4_Nonsense_Mutation_p.R264*|ZNF709_uc002mtx.4_Nonsense_Mutation_p.R296*	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGACTTCGAAAGGATGTG	0.363000														11			17		0	0	0.000566183	0	0
C5orf25	375484	broad.mit.edu	37	5	175716958	175716958	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:175716958C>A	uc003mds.4	+	3	781	c.374C>A	c.(373-375)cCa>cAa	p.P125Q	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P144Q|C5orf25_uc003mdu.1_Missense_Mutation_p.P36Q			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	125												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GTAGGTCCCCCACCCGCTACA	0.498000														47			10		1.96292e-10	5.71078e-10	0.00152264	1	0
TLR10	81793	broad.mit.edu	37	4	38776112	38776112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:38776112C>T	uc003gtj.3	-	3	1738	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K	TLR10_uc021xnk.1_Missense_Mutation_p.R353K|TLR10_uc003gti.3_Missense_Mutation_p.R367K|TLR10_uc021xnl.1_Missense_Mutation_p.R367K|TLR10_uc003gtk.3_Missense_Mutation_p.R367K|TLR10_uc021xnm.1_Missense_Mutation_p.R367K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	367					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGATAGTTCTTTTAAACAA	0.348000														51			29		0	0	0.00127121	0	0
LOC645752	645752	broad.mit.edu	37	15	78208245	78208245	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:78208245C>T	uc010bky.2	-	14	1688	c.924G>A	c.(922-924)gaG>gaA	p.E308E	LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CATCTGCCTTCTCCTTCGGGA	0.592000														11			16		0	0	0.000958276	0	0
POLI	11201	broad.mit.edu	37	18	51820381	51820381	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:51820381C>T	uc002lfj.4	+	9	1835	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	POLI_uc010xds.2_Silent_p.S510S|POLI_uc002lfk.4_Silent_p.S486S|POLI_uc010dpg.3_Silent_p.S185S	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	589	Ser-rich.				DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ATCATTTATCCAGTAGCAAAC	0.368000								DNA polymerases (catalytic subunits)						43			23		0	0	0.00278032	0	0
DGKI	9162	broad.mit.edu	37	7	137284623	137284623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:137284623C>T	uc003vtt.3	-	10	1197	c.1196G>A	c.(1195-1197)tGg>tAg	p.W399*	DGKI_uc003vtu.3_Nonsense_Mutation_p.W99*	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	399	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTCAGGTACCACATGAACAT	0.373000														60			8		0	0	0.000673444	0	0
SCN5A	6331	broad.mit.edu	37	3	38622601	38622601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38622601C>T	uc021wvo.1	-	15	3101	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvq.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvr.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvt.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvu.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvv.1_Missense_Mutation_p.E1017K|SCN5A_uc021wvj.1_Missense_Mutation_p.E883K|SCN5A_uc021wvi.1_Missense_Mutation_p.E883K|SCN5A_uc021wvw.1_Missense_Mutation_p.E628K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1017					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)	GGCACCTTCTCCGTCTCTGGG	0.697000														9			19		0	0	0.000958276	0	0
MGAM	8972	broad.mit.edu	37	7	141760157	141760157	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141760157G>A	uc003vwy.3	+	33	4160	c.4106G>A	c.(4105-4107)tGg>tAg	p.W1369*		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1369	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTCTAGACTGGGACAGCCAA	0.483000														49			10		0	0	0.000978159	0	0
PTPN13	5783	broad.mit.edu	37	4	87724936	87724936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:87724936G>A	uc003hpz.3	+	42	7060	c.6580G>A	c.(6580-6582)Ggt>Agt	p.G2194S	PTPN13_uc003hpy.3_Missense_Mutation_p.G2199S|PTPN13_uc003hqa.3_Missense_Mutation_p.G2175S|PTPN13_uc003hqb.3_Missense_Mutation_p.G2003S|PTPN13_uc003hqc.1_Missense_Mutation_p.G560S	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2194						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.P2193S(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAAATACACGGGTGCCAACTT	0.448000														58			34		0	0	0.00283554	0	0
CUX2	23316	broad.mit.edu	37	12	111652089	111652089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:111652089G>A	uc001tsa.2	+	1	303	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	CUX2_uc001tsb.2_Missense_Mutation_p.R105Q	NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	50						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAACTCCGCCGGGAATTTAAG	0.378000														23			55		0	0	0.00361006	0	0
TOX3	27324	broad.mit.edu	37	16	52497888	52497888	+	Silent	SNP	G	A	A	rs147213203	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:52497888G>A	uc002egw.2	-	2	537	c.366C>T	c.(364-366)ctC>ctT	p.L122L	TOX3_uc010vgt.1_Silent_p.L117L	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	122					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.L122V(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTTGTTCCACGAGATTTCTTG	0.433000														53			66		0	0	0.00361006	0	0
KIAA0240	23506	broad.mit.edu	37	6	42833015	42833015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:42833015C>T	uc003osn.1	+	12	3222	c.3071C>T	c.(3070-3072)cCc>cTc	p.P1024L	KIAA0240_uc011duw.1_Missense_Mutation_p.P1024L|KIAA0240_uc003osp.1_Missense_Mutation_p.P1024L	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	1024										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GGACGGCAGCCCCAGAGTGAC	0.512000														67			38		0	0	0.00195071	0	0
DOCK3	1795	broad.mit.edu	37	3	51265502	51265502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:51265502G>A	uc011bds.2	+	16	1653	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	544	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGATATTCACGAGCTTTATGT	0.478000														0			32		0	0	0.00327116	0	0
SF3B3	23450	broad.mit.edu	37	16	70588473	70588473	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:70588473C>T	uc002ezf.3	+	11	1738	c.1527C>T	c.(1525-1527)tcC>tcT	p.S509S		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	509					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGTCCTGCTCCTTATTAGGAG	0.512000														21			29		0	0	0.00209593	0	0
CDH18	1016	broad.mit.edu	37	5	19571815	19571815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:19571815C>T	uc003jgd.3	-	7	1660	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	CDH18_uc011cnm.2_Missense_Mutation_p.D376N|CDH18_uc003jgc.3_Missense_Mutation_p.D376N|CDH18_uc021xwu.1_Missense_Mutation_p.D376N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	376	Cadherin 3.				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)					TCATCTACATCCCCAACAATG	0.418000														0			33		0	0	0.00327116	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130867	38130867	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:38130867G>A	uc003atr.3	+	8	4795	c.4524G>A	c.(4522-4524)aaG>aaA	p.K1508K	TRIOBP_uc003atu.3_Silent_p.K1336K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1508					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACTAGGAAAGAGAAGCCCAC	0.647000														24			35		0	0	0.00375469	0	0
TGM6	343641	broad.mit.edu	37	20	2380989	2380989	+	Silent	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:2380989C>A	uc002wfy.1	+	6	949	c.888C>A	c.(886-888)tcC>tcA	p.S296S	TGM6_uc010gal.1_Silent_p.S296S	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	296					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.V295M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGGTCGTGTCCAACTTCAACT	0.617000														60			5		8.12818e-05	0.000234961	0.00198382	1	0
DTX2	113878	broad.mit.edu	37	7	76112063	76112063	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:76112063C>T	uc011kgk.1	+	2	586	c.234C>T	c.(232-234)tgC>tgT	p.C78C	DTX2_uc003uff.4_Silent_p.C169C|DTX2_uc003ufg.4_Silent_p.C169C|DTX2_uc003ufh.4_Silent_p.C169C|DTX2_uc003ufj.4_Silent_p.C169C	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	169	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCAGCTTCTGCCGCAGCGTGC	0.652000														27			17		0	0	0.000422831	0	0
PCBP1	5093	broad.mit.edu	37	2	70314983	70314983	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:70314983T>C	uc002sgf.3	+	0	399	c.108T>C	c.(106-108)gtT>gtC	p.V36V	PCBP1-AS1_uc002sga.3_5'Flank|PCBP1-AS1_uc002sgb.1_5'Flank|PCBP1-AS1_uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	Homo sapiens poly(rC) binding protein 1 (PCBP1), mRNA.	36	KH 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	RNA binding|protein binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GGGAGTCGGTTAAGAGGATCC	0.527000														78			56		0	0	0.00361006	0	0
NEK4	6787	broad.mit.edu	37	3	52800230	52800230	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:52800230G>A	uc003dfq.4	-	2	725	c.522C>T	c.(520-522)agC>agT	p.S174S	NEK4_uc011bej.2_Silent_p.S85S|NEK4_uc003dfr.3_Silent_p.S174S	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	174	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ACAATTCAGGGCTCATGTAGT	0.463000														4			22		0	0	0.00106085	0	0
ZNF323	64288	broad.mit.edu	37	6	28297142	28297142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28297142C>T	uc003nlc.3	-	1	708	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	ZNF323_uc003nld.3_Missense_Mutation_p.G107R|ZNF323_uc010jra.3_Missense_Mutation_p.G107R|ZNF323_uc003nla.3_Missense_Mutation_p.G107R|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Missense_Mutation_p.G107R|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	107	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G107V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						GCCTCCTCCCCACTCTCCGGA	0.537000														120			105		0	0	0.00361006	0	0
SP100	6672	broad.mit.edu	37	2	231314285	231314285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:231314285C>T	uc002vqt.3	+	6	737	c.596C>T	c.(595-597)cCa>cTa	p.P199L	SP100_uc002vqs.3_Missense_Mutation_p.P199L|SP100_uc002vqu.1_Missense_Mutation_p.P199L|SP100_uc010zmb.2_Missense_Mutation_p.P199L|SP100_uc002vqq.2_Missense_Mutation_p.P199L|SP100_uc010zmc.2_Missense_Mutation_p.P174L|SP100_uc002vqv.2_Missense_Mutation_p.P164L	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	199					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTACAACCCCACCTGAAAAT	0.473000														36			21		0	0	0.000720815	0	0
DLL4	54567	broad.mit.edu	37	15	41229658	41229658	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:41229658G>A	uc001zng.2	+	9	2322	c.1986G>A	c.(1984-1986)agG>agA	p.R662R		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	662					Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTCCCCCAGGGACTCCATGT	0.552000														104			116		0	0	0.00361006	0	0
ZNF251	90987	broad.mit.edu	37	8	145947718	145947718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145947718G>A	uc003zdv.4	-	4	1583	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GAACTCCGACGAAAGGCTTTG	0.488000														85			47		0	0	0.00285205	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428889	19428889	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:19428889G>A	uc010tcj.1	-	0		c.17221C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TCCAACAAATGACTTTTTAAA	0.468000														38			13		0	0	0.00185496	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622704	65622704	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:65622704G>A	uc002aos.2	-	10	2037	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	595	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTGTAGGCGAGCAGCTTCA	0.612000														73			38		0	0	0.00195071	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64636740	64636741	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:64636740_64636741GG>TT	uc003dmg.3	-	8	1447_1448	c.1415_1416CC>AA	c.(1414-1416)ccc>cAA	p.P472Q	ADAMTS9_uc011bfo.2_Missense_Mutation_p.P444Q|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P301Q|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P472Q	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	472	Peptidase M12B.				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)		ACCACATCCAGGGGTTGGTGTA	0.406000														465			12		0	0	6.4e-05	0	0
DDX41	51428	broad.mit.edu	37	5	176939793	176939793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176939793G>A	uc003mho.3	-	12	1408	c.1387C>T	c.(1387-1389)Cat>Tat	p.H463Y	DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DOK3_uc003mhk.3_5'Flank|DDX41_uc003mhn.3_Missense_Mutation_p.H332Y|DDX41_uc003mhp.3_Missense_Mutation_p.H332Y|DDX41_uc003mhq.1_Missense_Mutation_p.H243Y	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	463	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			TTGCCCCCATGGATGGCTACG	0.587000														57			67		0	0	0.00361006	0	0
TXNRD1	7296	broad.mit.edu	37	12	104713318	104713318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:104713318C>T	uc021rcx.1	+	8	966	c.944C>T	c.(943-945)cCa>cTa	p.P315L	TXNRD1_uc021rcy.1_Missense_Mutation_p.P217L|TXNRD1_uc021rcz.1_Missense_Mutation_p.P165L|TXNRD1_uc021rda.1_Missense_Mutation_p.P165L|TXNRD1_uc021rdb.1_Missense_Mutation_p.P165L|TXNRD1_uc010swp.2_Missense_Mutation_p.P127L|TXNRD1_uc010swq.2_Missense_Mutation_p.P215L|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.P231L	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	315					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGTGAAAGACCACGTTACTTG	0.388000														7			8		0	0	0.000673444	0	0
ZNF585A	199704	broad.mit.edu	37	19	37660790	37660790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37660790G>A	uc002ofo.1	-	1	254	c.23C>T	c.(22-24)cCt>cTt	p.P8L	ZNF585A_uc002ofm.1_5'UTR|ZNF585A_uc002ofn.1_5'UTR	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGATTTCTGAGGTGAGGTCCA	0.537000														12			11		0	0	0.00136819	0	0
DDX39B	7919	broad.mit.edu	37	6	31503198	31503198	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31503198G>A	uc003ntt.3	-	5	1339	c.681C>T	c.(679-681)ttC>ttT	p.F227F	DDX39B_uc003ntr.3_5'Flank|DDX39B_uc003ntu.3_Silent_p.F227F|DDX39B_uc011dnn.2_Silent_p.F149F|DDX39B_uc003ntv.3_Silent_p.F227F|DDX39B_uc003ntw.2_Silent_p.F227F|DDX39B_uc003ntx.2_Silent_p.F227F|DDX39B_uc011dno.1_Silent_p.F180F|DDX39B_uc011dnp.1_Silent_p.F149F	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	227	Helicase ATP-binding.				RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGGTAGCACTGAACATCATGA	0.493000														86			66		0	0	0.00361006	0	0
JPH3	57338	broad.mit.edu	37	16	87677874	87677874	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:87677874G>A	uc002fkd.3	+	1	647	c.393G>A	c.(391-393)caG>caA	p.Q131Q	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	131	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGACCTACCAGGGCCAGTGGG	0.667000														22			41		0	0	0.00361006	0	0
ZAN	7455	broad.mit.edu	37	7	100391482	100391482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100391482G>A	uc003uwj.3	+	43	7990	c.7825G>A	c.(7825-7827)Gac>Aac	p.D2609N	ZAN_uc003uwk.3_Intron|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Intron|ZAN_uc010lhi.3_Intron|ZAN_uc011kke.2_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2610					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGAGCTGTATGACACCCTGCC	0.632000														97			22		0	0	0.00395357	0	0
PDZD2	23037	broad.mit.edu	37	5	32074472	32074472	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:32074472T>C	uc003jhl.3	+	17	3648	c.3260T>C	c.(3259-3261)tTg>tCg	p.L1087S	PDZD2_uc003jhm.3_Missense_Mutation_p.L1087S|PDZD2_uc011cnx.1_Missense_Mutation_p.L913S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1087					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCACCCAAATTGGAATACACA	0.587000														86			62		0	0	0.00361006	0	0
STAB2	55576	broad.mit.edu	37	12	104048373	104048373	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:104048373A>T	uc001tjw.3	+	12	1634	c.1448A>T	c.(1447-1449)aAg>aTg	p.K483M		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	483	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCAAAAAGAAGGTAAAAATT	0.393000														19			32		0	0	0.00375469	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656542	40656542	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:40656542C>T	uc002rrx.3	-	0	903	c.879G>A	c.(877-879)ggG>ggA	p.G293G	SLC8A1_uc002rry.3_Silent_p.G293G|SLC8A1_uc002rsb.2_Silent_p.G293G|SLC8A1_uc002rrz.3_Silent_p.G293G|SLC8A1_uc002rsa.3_Silent_p.G293G|SLC8A1_uc002rsd.4_Silent_p.G293G|SLC8A1_uc010fan.1_Silent_p.G293G|SLC8A1_uc002rsc.1_Silent_p.G293G	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	293					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.D292D(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGACCACTTTCCCGTCCATTT	0.448000														84			101		0	0	0.00361006	0	0
PGBD1	84547	broad.mit.edu	37	6	28268885	28268885	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28268885C>T	uc003nky.3	+	6	1674	c.1254C>T	c.(1252-1254)aaC>aaT	p.N418N	PGBD1_uc003nkz.3_Silent_p.N418N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	418					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAAGTTGAACCCAGTAGAGC	0.358000														86			40		0	0	0.00222228	0	0
SGCZ	137868	broad.mit.edu	37	8	14181688	14181688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:14181688G>A	uc003wwq.3	-	2	920	c.260C>T	c.(259-261)aCc>aTc	p.T87I	SGCZ_uc010lss.3_Intron	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	74					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCCTTCTTGGTGACTCTCAG	0.368000														20			22		0	0	0.000878237	0	0
CLK2P	1197	broad.mit.edu	37	7	23624973	23624973	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:23624973C>A	uc003swk.2	-	0	1174	c.524G>T	c.(523-525)cGg>cTg	p.R175L						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TCGGATCATCCGGGAAGGGAT	0.478000														75			5		3.59834e-05	0.00010415	0.00116845	1	0
STXBP5L	9515	broad.mit.edu	37	3	120941855	120941855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:120941855C>T	uc003eec.4	+	10	1102	c.962C>T	c.(961-963)cCa>cTa	p.P321L	STXBP5L_uc011bji.2_Missense_Mutation_p.P321L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	321					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTAGCGAACCATTCATAATA	0.373000														82			40		0	0	0.00195071	0	0
EDARADD	128178	broad.mit.edu	37	1	236645630	236645630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:236645630C>T	uc001hxu.1	+	5	394	c.329C>T	c.(328-330)cCc>cTc	p.P110L	EDARADD_uc001hxv.1_Missense_Mutation_p.P100L	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	110					cell differentiation|signal transduction	cytoplasm		p.P110T(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCCGGGCCCCCACCATAAGT	0.478000														20			41		0	0	0.00222228	0	0
STAT4	6775	broad.mit.edu	37	2	192012914	192012914	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:192012914G>A	uc002usm.2	-	1	331	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Nonsense_Mutation_p.Q6*|STAT4_uc002uso.2_Nonsense_Mutation_p.Q6*|STAT4_uc002usp.4_Nonsense_Mutation_p.Q6*|STAT4_uc010zgl.2_Nonsense_Mutation_p.Q6*	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	6					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGTTGGACTTGATTCCACTGA	0.358000														70			38		0	0	0.00222228	0	0
HTR3A	3359	broad.mit.edu	37	11	113857256	113857256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:113857256G>A	uc010rxb.2	+	6	973	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	HTR3A_uc010rxa.2_Missense_Mutation_p.R247Q|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.R226Q	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	241					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ATCCGCCGGCGGCCCCTCTTC	0.612000														8			46		0	0	0.00361006	0	0
ABCC9	10060	broad.mit.edu	37	12	22069894	22069894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:22069894C>T	uc001rfh.3	-	3	570	c.550G>A	c.(550-552)Gag>Aag	p.E184K	ABCC9_uc001rfi.1_Missense_Mutation_p.E184K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	184					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACATTGATCTCCACAGCCATC	0.413000														150			119		0	0	0.00361006	0	0
DUSP13	51207	broad.mit.edu	37	10	76855425	76855425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:76855425C>T	uc001jwr.3	-	2	365	c.302G>A	c.(301-303)gGc>gAc	p.G101D	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Missense_Mutation_p.G194D|DUSP13_uc001jww.3_Missense_Mutation_p.G151D|DUSP13_uc009xrs.3_Missense_Mutation_p.G194D|DUSP13_uc001jwt.3_Missense_Mutation_p.G194D|DUSP13_uc001jwv.3_Missense_Mutation_p.G101D	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	92	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGCCTCGATGCCATAGTACTC	0.552000														12			80		0	0	0.00361006	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033498	95033498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95033498C>T	uc010avd.3	+	2	1226	c.952C>T	c.(952-954)Cct>Tct	p.P318S	SERPINA4_uc001ydk.3_Missense_Mutation_p.P281S|SERPINA4_uc001ydl.3_Missense_Mutation_p.P281S	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	281					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)		TTTCATTCTCCCTAACCAAGG	0.483000														27			18		0	0	0.000958276	0	0
KLHL36	79786	broad.mit.edu	37	16	84695403	84695403	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:84695403C>T	uc002fig.3	+	4	1656	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	KLHL36_uc010chl.3_Silent_p.I441I|AK057887_uc002fih.3_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	505										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATGACAACATCGAGTCCATGG	0.677000														25			7		0	0	0.00307968	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376574	113376574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:113376574G>A	uc003eam.3	-	6	4366	c.3955C>T	c.(3955-3957)Cca>Tca	p.P1319S	KIAA2018_uc003eal.3_Missense_Mutation_p.P1263S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1319					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCATGGCTTGGCTTTAAGAGT	0.453000														83			75		0	0	0.00361006	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595225	12595226	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:12595225_12595226GG>TT	uc001ilo.3	+	1	329_330	c.94_95GG>TT	c.(94-96)ggg>TTg	p.G32L	CAMK1D_uc001iln.3_Missense_Mutation_p.G32L	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	32	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGTTCACAGCGGGGCCTTTTCC	0.465000														274			9		0	0	6.4e-05	0	0
ZNF317	57693	broad.mit.edu	37	19	9271094	9271094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9271094C>T	uc002mku.3	+	6	1078	c.773C>T	c.(772-774)gCc>gTc	p.A258V	ZNF317_uc002mkv.3_Missense_Mutation_p.A117V|ZNF317_uc002mkw.3_Missense_Mutation_p.A226V|ZNF317_uc002mkx.3_Missense_Mutation_p.A173V|ZNF317_uc002mky.3_Missense_Mutation_p.A141V	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGCGGGAAAGCCTTCAACGAC	0.572000														52			17		0	0	0.000422831	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653000	46653000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:46653000C>T	uc003bhh.3	-	0	6220	c.6220G>A	c.(6220-6222)Gat>Aat	p.D2074N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2074					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGCGCACATCGTAGAAGAAT	0.463000														29			20		0	0	0.00188189	0	0
P2RX7	5027	broad.mit.edu	37	12	121622587	121622587	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121622587C>T	uc001tzm.3	+	12	1922	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	P2RX7_uc001tzn.3_Silent_p.G500G|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_Silent_p.G301G|P2RX7_uc001tzq.3_Silent_p.G420G	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	590						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTACAGTGGCTTCAAGAGTC	0.597000														56			16		0	0	0.00316338	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018874	34018874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:34018874G>A	uc002yqh.2	-	23	3193	c.3193C>T	c.(3193-3195)Ctt>Ttt	p.L1065F	SYNJ1_uc011ads.1_Missense_Mutation_p.L1021F|SYNJ1_uc002yqf.2_Missense_Mutation_p.L1026F|SYNJ1_uc002yqg.2_Missense_Mutation_p.L1021F|SYNJ1_uc002yqi.2_Missense_Mutation_p.L1065F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1026	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGCTGAGGAAGAAGTTCCTCC	0.468000														49			30		0	0	0.001512	0	0
SLC25A41	284427	broad.mit.edu	37	19	6433579	6433579	+	Nonsense_Mutation	SNP	C	T	T	rs150906124	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:6433579C>T	uc010dus.3	-	0	212	c.126G>A	c.(124-126)tgG>tgA	p.W42*	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	42	Pro-rich.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						AGCCAGGGTTCCAggatgggg	0.547000														38			19		0	0	0.00074312	0	0
PDE6B	5158	broad.mit.edu	37	4	619505	619505	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:619505G>A	uc003gap.3	+	0	143	c.90G>A	c.(88-90)gaG>gaA	p.E30E	PDE6B_uc003gao.4_Silent_p.E30E	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	30					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TGAGCCCTGAGAATGTGGCCG	0.662000														21			22		0	0	0.00278032	0	0
RNF17	56163	broad.mit.edu	37	13	25444865	25444865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25444865G>A	uc001upr.3	+	31	4476	c.4435G>A	c.(4435-4437)Gat>Aat	p.D1479N	RNF17_uc010tde.2_Missense_Mutation_p.D1475N|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.D1418N|RNF17_uc010aac.3_Missense_Mutation_p.D671N|RNF17_uc010aad.3_Missense_Mutation_p.D489N	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1479	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCCTCTGACGGATTTTAGAAC	0.418000														13			8		0	0	0.00307968	0	0
EPHA6	285220	broad.mit.edu	37	3	96706808	96706808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:96706808G>A	uc010how.1	+	2	1128	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	EPHA6_uc003drp.1_Missense_Mutation_p.G362E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	267	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGCAGTACAGGATATGAAGAA	0.348000														53			31		0	0	0.001512	0	0
DCN	1634	broad.mit.edu	37	12	91539904	91539904	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:91539904C>T	uc001tbt.3	-	7	1265	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*	DCN_uc001tbo.3_Nonsense_Mutation_p.W228*|DCN_uc001tbp.3_Nonsense_Mutation_p.W190*|DCN_uc001tbq.3_Nonsense_Mutation_p.W150*|DCN_uc001tbr.3_3'UTR|DCN_uc001tbu.3_Nonsense_Mutation_p.W337*	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	337					organ morphogenesis	extracellular space		p.Y336F(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GCTGTATCTCCCAGTACTGGA	0.463000														59			28		0	0	0.0024448	0	0
ABCC6	368	broad.mit.edu	37	16	16284205	16284205	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:16284205T>A	uc002den.4	-	11	1488	c.1451A>T	c.(1450-1452)aAg>aTg	p.K484M	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.K496M	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	484	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCGTGAGTCCTTCTGCCTCAT	0.562000														43			17		0	0	0.00121646	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161667	132161667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132161667G>A	uc003kxx.3	-	3	971	c.166C>T	c.(166-168)Cct>Tct	p.P56S	SHROOM1_uc003kxy.2_Missense_Mutation_p.P56S	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	56					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTAGGTAAGGAAGGAGGTCT	0.731000														5			4		0	0	0.00024832	0	0
FAT4	79633	broad.mit.edu	37	4	126239462	126239462	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:126239462C>T	uc003ifj.4	+	0	1896	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	632	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGGTCCTTCCGTCTGGATC	0.552000														25			15		0	0	0.00316338	0	0
APOB	338	broad.mit.edu	37	2	21233797	21233797	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:21233797C>T	uc002red.3	-	25	6071	c.5943G>A	c.(5941-5943)tgG>tgA	p.W1981*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1981					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTTGAGTTTCCAGGTGCCTG	0.468000														241			386		0	0	0.00361006	0	0
E2F7	144455	broad.mit.edu	37	12	77423987	77423987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:77423987G>A	uc001sym.4	-	9	1744	c.1508C>T	c.(1507-1509)tCt>tTt	p.S503F	E2F7_uc009zse.3_5'UTR	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	503					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGAGCAACAGAAAATACTGG	0.522000														77			53		0	0	0.00361006	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764907	77764907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:77764907G>A	uc003yau.2	+	9	6137	c.5750G>A	c.(5749-5751)gGt>gAt	p.G1917D	ZFHX4_uc003yaw.1_Missense_Mutation_p.G1872D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1872						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAAACTTTGGTTTTGAACTG	0.448000										HNSCC(33;0.089)				16			15		0	0	0.00244969	0	0
INTS7	25896	broad.mit.edu	37	1	212115247	212115247	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:212115247G>A	uc001hiw.2	-	19	3031	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	INTS7_uc001hix.2_Silent_p.S812S|INTS7_uc009xdb.2_Silent_p.S916S|INTS7_uc001hiy.2_Silent_p.S922S|INTS7_uc010pta.2_Silent_p.S887S	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	936					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAATTTGCTGGGAATAAGGGT	0.453000														38			75		0	0	0.00361006	0	0
KDM3B	51780	broad.mit.edu	37	5	137756620	137756620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:137756620C>T	uc003lcy.1	+	14	4141	c.3941C>T	c.(3940-3942)cCc>cTc	p.P1314L	KDM3B_uc010jew.1_Missense_Mutation_p.P970L|KDM3B_uc011cys.1_Missense_Mutation_p.P346L	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1314					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ACAGGCATACCCTTTCCCCCG	0.512000														20			40		0	0	0.00361006	0	0
ZBBX	79740	broad.mit.edu	37	3	167000104	167000104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:167000104G>A	uc011bpc.2	-	19	2513	c.2176C>T	c.(2176-2178)Ctt>Ttt	p.L726F	ZBBX_uc003feq.3_Missense_Mutation_p.L658F|ZBBX_uc003fep.3_Missense_Mutation_p.L687F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	687						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCTAAGGAAAGCTCATTCTGG	0.353000														42			38		0	0	0.00375469	0	0
UNC5A	90249	broad.mit.edu	37	5	176306743	176306743	+	Silent	SNP	C	T	T	rs142194384		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176306743C>T	uc003mey.3	+	14	2577	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	795	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTTGCCTCCAAGCCCAGCC	0.701000														35			36		0	0	0.00148497	0	0
VSIG1	340547	broad.mit.edu	37	X	107310195	107310195	+	Silent	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:107310195A>G	uc011msk.2	+	3	512	c.351A>G	c.(349-351)gtA>gtG	p.V117V	VSIG1_uc004eno.3_Silent_p.V81V	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	81	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GACAAGCTGTAGCCATCGGGC	0.428000														2			22		0	0	0.00278032	0	0
RRP36	88745	broad.mit.edu	37	6	42992810	42992810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:42992810G>A	uc003otp.1	+	1	226	c.218G>A	c.(217-219)aGt>aAt	p.S73N		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	73					rRNA processing|ribosomal small subunit biogenesis	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GCTGGAAATAGTCCTAAGAAA	0.453000														29			36		0	0	0.00375469	0	0
SPAG17	200162	broad.mit.edu	37	1	118598527	118598527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:118598527C>T	uc001ehk.2	-	18	2619	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K	SPAG17_uc021oss.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	851						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCAACAAGTTCCAAATAATTC	0.318000														30			69		0	0	0.00361006	0	0
HEATR8	374977	broad.mit.edu	37	1	55166006	55166006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:55166006G>A	uc010ooe.1	+	17	3301	c.2977G>A	c.(2977-2979)Gag>Aag	p.E993K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Nonsense_Mutation_p.W522*|HEATR8_uc010ood.1_Missense_Mutation_p.E511K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.E195K	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	993						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTCCAGATGGAGCAGGTGCG	0.622000														11			20		0	0	0.00121646	0	0
ST18	9705	broad.mit.edu	37	8	53079445	53079445	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:53079445C>G	uc003xqz.2	-	5	1327	c.1171G>C	c.(1171-1173)Ggg>Cgg	p.G391R	ST18_uc011ldq.1_Missense_Mutation_p.G38R|ST18_uc011ldr.1_Missense_Mutation_p.G356R|ST18_uc011lds.1_Missense_Mutation_p.G296R|ST18_uc003xra.2_Missense_Mutation_p.G391R|ST18_uc003xrb.2_Missense_Mutation_p.G391R	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	391						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S390L(1)|p.S390S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGGGCACCCCGAAAGGCTG	0.562000														49			43		0	0	0.0025221	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776795	31776795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:31776795C>T	uc001zfq.3	-	10	1576	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	OTUD7A_uc001zfr.3_Missense_Mutation_p.D502N	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	495						cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ttctccttgtccttGCCGTTC	0.607000														10			10		0	0	0.000978159	0	0
PKP2	5318	broad.mit.edu	37	12	32945632	32945632	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:32945632G>A	uc001rlj.4	-	12	2638	c.2523C>T	c.(2521-2523)tcC>tcT	p.S841S	PKP2_uc001rlk.4_Silent_p.S797S|PKP2_uc010skj.2_Silent_p.S794S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	841					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGAAGGACGGAAGCAGCTT	0.473000														52			48		0	0	0.00361006	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566726	45566726	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:45566726G>A	uc010dnv.3	-	2	1255	c.819C>T	c.(817-819)ttC>ttT	p.F273F	ZBTB7C_uc002ldb.3_Silent_p.F251F|ZBTB7C_uc010dnu.3_Silent_p.F260F|ZBTB7C_uc010dnw.3_Silent_p.F251F|ZBTB7C_uc010dnx.1_Silent_p.F251F|ZBTB7C_uc010dny.1_Silent_p.F251F|ZBTB7C_uc010dnz.1_Silent_p.F273F|ZBTB7C_uc010doi.1_Silent_p.F251F|ZBTB7C_uc010doj.1_Silent_p.F260F|ZBTB7C_uc010dok.1_Silent_p.F300F|ZBTB7C_uc010dol.1_Silent_p.F260F|ZBTB7C_uc010doa.1_Silent_p.F273F|ZBTB7C_uc010dob.1_Silent_p.F251F|ZBTB7C_uc010doc.1_Silent_p.F260F|ZBTB7C_uc010dod.1_Silent_p.F273F|ZBTB7C_uc010doe.1_Silent_p.F251F|ZBTB7C_uc010dof.1_Silent_p.F251F|ZBTB7C_uc010dog.1_Silent_p.F251F|ZBTB7C_uc010doh.1_Silent_p.F260F|ZBTB7C_uc010dom.1_Silent_p.F260F|ZBTB7C_uc010don.1_Silent_p.F259F|ZBTB7C_uc010dop.1_Silent_p.F251F|ZBTB7C_uc010doq.1_Silent_p.F260F|ZBTB7C_uc010dor.1_Silent_p.F273F|ZBTB7C_uc010dos.1_Silent_p.F251F|ZBTB7C_uc010dot.1_Silent_p.F251F|ZBTB7C_uc010doo.1_Silent_p.F251F|ZBTB7C_uc010dou.1_Silent_p.F260F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	251						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTCCGGGGCGAATGGAGACA	0.597000														30			22		0	0	0.00332997	0	0
CACNA1E	777	broad.mit.edu	37	1	181741296	181741296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:181741296G>A	uc009wxt.3	+	36	5263	c.5068G>A	c.(5068-5070)Gag>Aag	p.E1690K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1690K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1671K|CACNA1E_uc001gox.1_Missense_Mutation_p.E916K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1690					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1690K(3)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGCAGAACGAGAACGAACG	0.557000														28			36		0	0	0.000953801	0	0
ATP13A4	84239	broad.mit.edu	37	3	193175222	193175222	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:193175222G>A	uc003ftd.3	-	14	1815	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	ATP13A4_uc003fte.1_Silent_p.I569I|ATP13A4_uc011bsr.1_Silent_p.I40I|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	569					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACTCCCTTGATGTGGAAAT	0.463000														88			82		0	0	0.00361006	0	0
A2M	2	broad.mit.edu	37	12	9248273	9248273	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:9248273C>T	uc001qvk.1	-	15	1988	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K	A2M_uc009zgk.1_Silent_p.K475K	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	625					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGTGAGGTCCTTTTCTGGTA	0.353000														76			35		0	0	0.00128727	0	0
DNAJC2	27000	broad.mit.edu	37	7	102956221	102956221	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:102956221T>C	uc003vbo.3	-	14	1877	c.1626A>G	c.(1624-1626)gaA>gaG	p.E542E	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_Silent_p.E167E|DNAJC2_uc010lix.3_Silent_p.E489E|DNAJC2_uc003vbp.3_Silent_p.E167E	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	542					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTTCAAATCGTTCTGAAGGCG	0.383000														22			72		0	0	0.00361006	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800709	70800709	+	Missense_Mutation	SNP	C	T	T	rs146773920	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:70800709C>T	uc003tvy.3	+	1	412	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	138						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCGGATTATCGTCCCACCAA	0.463000														59			29		0	0	0.001512	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668500	176668500	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176668500A>T	uc001gkz.3	+	7	4175	c.3011A>T	c.(3010-3012)gAc>gTc	p.D1004V	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1004					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTTTCTGTGACATCCCACTC	0.507000														104			37		0	0	0.000814825	0	0
AKR1B10	57016	broad.mit.edu	37	7	134221440	134221440	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:134221440C>T	uc003vrr.3	+	4	788	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	156					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGGTGAAAGCCCTTGGGGTCT	0.493000														113			36		0	0	0.00327116	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401168	11401168	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:11401168T>C	uc003gmq.3	-	1	785	c.462A>G	c.(460-462)ctA>ctG	p.L154L	HS3ST1_uc021xmg.1_Silent_p.L154L	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	154						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TGTAGTCAGATAGCACGCGCT	0.587000														23			15		0	0	0.00316338	0	0
DDX39B	7919	broad.mit.edu	37	6	31503225	31503225	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31503225G>A	uc003ntt.3	-	5	1312	c.654C>T	c.(652-654)acC>acT	p.T218T	DDX39B_uc003ntr.3_5'Flank|DDX39B_uc003ntu.3_Silent_p.T218T|DDX39B_uc011dnn.2_Silent_p.T140T|DDX39B_uc003ntv.3_Silent_p.T218T|DDX39B_uc003ntw.2_Silent_p.T218T|DDX39B_uc003ntx.2_Silent_p.T218T|DDX39B_uc011dno.1_Silent_p.T171T|DDX39B_uc011dnp.1_Silent_p.T140T	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	218	Helicase ATP-binding.				RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCTCGTGGGGGGTCATGCGAA	0.433000														67			58		0	0	0.00361006	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763506	110763506	+	Missense_Mutation	SNP	G	A	A	rs146329765	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:110763506G>A	uc003puf.3	-	3	1191	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L	SLC22A16_uc003pue.3_Missense_Mutation_p.S356L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	375					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CAAGGAAAACGAGTAGAATCC	0.383000														7			29		0	0	0.00106085	0	0
KRT80	144501	broad.mit.edu	37	12	52565271	52565271	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52565271G>C	uc001rzw.3	-	6	1426	c.1375C>G	c.(1375-1377)Cga>Gga	p.R459G	KRT80_uc001rzy.3_3'UTR|KRT80_uc001rzx.3_Missense_Mutation_p.R424G	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	424						keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TTCTTCTTTCGGGAGGGGGCC	0.562000														51			20		0	0	0.00188189	0	0
USH2A	7399	broad.mit.edu	37	1	216061780	216061780	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:216061780G>A	uc001hku.1	-	40	8598	c.8211C>T	c.(8209-8211)ccC>ccT	p.P2737P		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2737	Fibronectin type-III 14.				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)		GGACTGCATCGGGTTCCAGCA	0.507000										HNSCC(13;0.011)				43			15		0	0	0.00074312	0	0
IZUMO4	113177	broad.mit.edu	37	19	2099315	2099315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:2099315G>A	uc002luw.1	+	9	747	c.670G>A	c.(670-672)Gat>Aat	p.D224N	IZUMO4_uc002lux.1_Missense_Mutation_p.D206N|IZUMO4_uc010xgw.1_3'UTR	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN	Homo sapiens IZUMO family member 4 (IZUMO4), transcript variant 3, mRNA.	224						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GACCTTGGAAGATGCTGCTGA	0.642000														25			5		0	0	0.00116845	0	0
OR9A4	130075	broad.mit.edu	37	7	141619558	141619558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141619558G>A	uc003vwu.1	+	0	883	c.883G>A	c.(883-885)Gat>Aat	p.D295N		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCCGGAATGATAAAGTCAT	0.458000														33			84		0	0	0.00361006	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229475	140229475	+	Silent	SNP	G	A	A	rs17844330		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140229475G>A	uc003lhu.2	+	0	2119	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.K465K	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	479	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCGTGAAGGAGAACAACC	0.662000														2			43		0	0	0.00195071	0	0
MTCH2	23788	broad.mit.edu	37	11	47656245	47656245	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:47656245G>A	uc010rho.2	-	4	537	c.348C>T	c.(346-348)tcC>tcT	p.S116S	MTCH2_uc010rhp.2_5'UTR	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	116					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CGTGGTCAAAGGAAGATGAGA	0.363000														29			8		0	0	0.000978159	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300637	41300637	+	Splice_Site	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:41300637A>C	uc001cgh.2	+	12	1696	c.1614_splice	c.e12-2	p.R538_splice	KCNQ4_uc001cgi.2_Splice_Site_p.R484_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	538					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTCCCCCAACAGGATTCTCAA	0.557000														26			51		0	0	0.00361006	0	0
OR10J5	127385	broad.mit.edu	37	1	159505776	159505776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159505776C>T	uc010piw.2	-	0	22	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TCTGACACTTCTGTGAAGTTC	0.363000														47			10		0	0	0.000673444	0	0
RBM10	8241	broad.mit.edu	37	X	47039676	47039676	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:47039676C>T	uc004dhi.3	+	10	1552	c.1323C>T	c.(1321-1323)acC>acT	p.T441T	RBM10_uc004dhf.3_Silent_p.T376T|RBM10_uc004dhh.3_Silent_p.T375T|RBM10_uc010nhq.3_Silent_p.T299T|RBM10_uc004dhg.3_Silent_p.T298T	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	376					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACGGCAAGACCATCAATGTTG	0.632000														0			9		0	0	0.000442599	0	0
IRF7	3665	broad.mit.edu	37	11	615225	615225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:615225G>A	uc001lqg.3	-	0	504	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	IRF7_uc009ycb.3_5'UTR|IRF7_uc010qwf.2_Missense_Mutation_p.L19F|IRF7_uc001lqf.3_5'UTR|IRF7_uc010qwg.2_5'UTR|IRF7_uc001lqh.3_Missense_Mutation_p.L19F|IRF7_uc001lqi.3_Missense_Mutation_p.L19F|IRF7_uc010qwh.2_5'UTR	NM_004031	NP_004022	Q92985	IRF7_HUMAN	Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA.	19					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCTCTCCAAGGAGCCACTCT	0.697000														6			6		0	0	0.00198382	0	0
SMPD4	55627	broad.mit.edu	37	2	130911935	130911935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:130911935G>A	uc002tqq.2	-	15	2840	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F	SMPD4_uc002tqo.2_Missense_Mutation_p.S96F|SMPD4_uc002tqp.2_Missense_Mutation_p.S303F|SMPD4_uc010yzy.2_Missense_Mutation_p.S313F|SMPD4_uc010yzz.2_Missense_Mutation_p.S228F|SMPD4_uc002tqs.2_Missense_Mutation_p.S432F|SMPD4_uc002tqr.2_Missense_Mutation_p.S535F|SMPD4_uc010zaa.2_Missense_Mutation_p.S422F|SMPD4_uc010zab.2_Missense_Mutation_p.S462F|SMPD4_uc002tqt.2_Missense_Mutation_p.S413F|SMPD4_uc010zac.2_Missense_Mutation_p.S305F|SMPD4_uc010zad.2_Missense_Mutation_p.S200F	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	525					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CACCTTGAAGGAGGCATCAGT	0.647000														12			9		0	0	0.000978159	0	0
FAM45A	404636	broad.mit.edu	37	X	129629636	129629636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:129629636G>A	uc010nrh.3	+	0	722	c.504G>A	c.(502-504)atG>atA	p.M168I	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	168										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AGTTTGGAATGGAAACTGTTA	0.468000														4			24		0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179467247	179467247	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179467247T>G	uc021vsy.1	-	231	47403	c.47178A>C	c.(47176-47178)aaA>aaC	p.K15726N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K9421N|TTN_uc021vta.1_Missense_Mutation_p.K9354N|TTN_uc021vtb.1_Missense_Mutation_p.K9229N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16653							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)			TGGCTGGAGGTTTCCATCCTA	0.408000														18			4		0	0	0.00024832	0	0
NAPSA	9476	broad.mit.edu	37	19	50863041	50863041	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50863041G>A	uc002prx.3	-	5	800	c.747C>T	c.(745-747)ttC>ttT	p.F249F	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	249					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TGACTGGCACGAAGGTGAGGG	0.647000														93			21		0	0	0.00278032	0	0
SOX10	6663	broad.mit.edu	37	22	38370151	38370151	+	Missense_Mutation	SNP	G	A	A	rs74315518		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:38370151G>A	uc003aun.1	-	3	1030	c.752C>T	c.(751-753)tCg>tTg	p.S251L	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.S251L	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	251						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TGCCTTGCCCGACTGCAGCTC	0.652000														169			102		0	0	0.00361006	0	0
SYT5	6861	broad.mit.edu	37	19	55689657	55689657	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55689657C>T	uc002qjm.1	-	1	1219	c.159G>A	c.(157-159)aaG>aaA	p.K53K	SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Silent_p.K53K|SYT5_uc002qjo.1_Silent_p.K53K	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	53					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCGACAGCTCTTCCGGTAGA	0.617000														53			5		0	0	0.00198382	0	0
MAP2	4133	broad.mit.edu	37	2	210595033	210595033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:210595033C>T	uc002vde.1	+	14	5644	c.5396C>T	c.(5395-5397)tCg>tTg	p.S1799L	MAP2_uc002vdd.1_Missense_Mutation_p.S531L|MAP2_uc002vdf.1_Missense_Mutation_p.S474L|MAP2_uc002vdg.1_Missense_Mutation_p.S443L|MAP2_uc002vdh.1_Missense_Mutation_p.S500L|MAP2_uc002vdi.1_Missense_Mutation_p.S1795L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1799					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AATGTCTCCTCGTCTGGAAGC	0.542000														25			20		0	0	0.00188189	0	0
MUC16	94025	broad.mit.edu	37	19	9066457	9066457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9066457G>A	uc002mkp.3	-	2	21193	c.20989C>T	c.(20989-20991)Cct>Tct	p.P6997S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6999	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						GAAGGGCCAGGGATGGATGTT	0.483000														68			118		0	0	0.00361006	0	0
KLK9	284366	broad.mit.edu	37	19	51509897	51509898	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51509897_51509898GG>AA	uc002pux.1	-	2	369_370	c.282_283CC>TT	c.(280-285)ttcccc>ttTTcc	p.P95S	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P66S|KLK8_uc002puv.1_5'Flank	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	95	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCAGGGTGGGGGAAGAAGTCCG	0.604000														62			13		0	0	6.4e-05	0	0
OBSCN	84033	broad.mit.edu	37	1	228525717	228525717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228525717G>A	uc009xez.1	+	66	16917	c.16873G>A	c.(16873-16875)Gaa>Aaa	p.E5625K	OBSCN_uc001hsn.3_Missense_Mutation_p.E5625K|OBSCN_uc001hsr.1_Missense_Mutation_p.E253K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5625	SH3.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				CACGCTGCGGGAAGGCCAGTA	0.632000														6			14		0	0	0.000566183	0	0
ZNF442	79973	broad.mit.edu	37	19	12461073	12461073	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:12461073G>A	uc002mtr.1	-	5	1937	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	ZNF442_uc010xmk.1_Silent_p.F373F	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TAGAAATACGGAAGGCTTTAC	0.383000														37			47		0	0	0.00361006	0	0
BCL2L2-PABPN1	100529063	broad.mit.edu	37	14	23792248	23792248	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:23792248T>C	uc001wjh.4	+	4	817	c.588T>C	c.(586-588)gcT>gcC	p.A196A	BCL2L2-PABPN1_uc001wjj.3_Silent_p.A169A|BCL2L2-PABPN1_uc001wjk.3_Silent_p.A169A	NM_001199864	NP_001186793			Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA.																		AGATGGAGGCTGATGCCCGTT	0.433000														96			37		0	0	0.00285205	0	0
TGM6	343641	broad.mit.edu	37	20	2375099	2375099	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:2375099G>A	uc002wfy.1	+	2	69	c.8_splice	c.e2-1	p.G3_splice	TGM6_uc010gal.1_Splice_Site_p.G3_splice	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	3					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCCACCCAGGGATCAGAGTCA	0.612000														29			11		0	0	0.00136819	0	0
DSPP	1834	broad.mit.edu	37	4	88533886	88533886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:88533886G>A	uc003hqu.3	+	3	668	c.548G>A	c.(547-549)gGa>gAa	p.G183E		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	183					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CAAGAAGATGGACCTCAAGTA	0.408000														22			21		0	0	0.00152264	0	0
OR5H14	403273	broad.mit.edu	37	3	97868918	97868918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:97868918C>T	uc003dsg.1	+	0	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAAAGAAGTCTGTCAAAGGT	0.378000														25			24		0	0	0.00127121	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184921	39184921	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:39184921G>A	uc003cjg.3	-	4	1609	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	CSRNP1_uc003cjh.3_Silent_p.F465F	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	465					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CACCATTTAGGAAGCAGCTGG	0.597000														18			11		0	0	0.000673444	0	0
CHTF18	63922	broad.mit.edu	37	16	846795	846795	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:846795C>T	uc002ckf.4	+	17	2682	c.2619C>T	c.(2617-2619)gcC>gcT	p.A873A	CHTF18_uc002cke.4_Silent_p.A845A|CHTF18_uc010brf.3_Silent_p.A427A|CHTF18_uc002ckg.4_Silent_p.A363A	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	845					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.P873Q(1)		endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGCTCATCGCCCGCGAGATCG	0.662000														16			12		0	0	0.00229938	0	0
IBSP	3381	broad.mit.edu	37	4	88731890	88731890	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:88731890T>C	uc003hqx.4	+	5	477	c.379T>C	c.(379-381)Tta>Cta	p.L127L		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	127	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GTATACAGGGTTAGCTGCAAT	0.403000														26			25		0	0	0.000878237	0	0
SCN10A	6336	broad.mit.edu	37	3	38755466	38755466	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38755466G>A	uc003ciq.3	-	20	3787	c.3787C>T	c.(3787-3789)Cga>Tga	p.R1263*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1263					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)	CCTTCAAATCGAGAAAGAGCC	0.532000														38			37		0	0	0.00148497	0	0
RBM19	9904	broad.mit.edu	37	12	114395671	114395671	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:114395671G>A	uc009zwi.2	-	5	900	c.756C>T	c.(754-756)gtC>gtT	p.V252V	RBM19_uc001tvn.4_Silent_p.V252V|RBM19_uc001tvm.3_Silent_p.V252V	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	252					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTTCCTGCAGGACTGGGGTGG	0.597000														49			53		0	0	0.00361006	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030225	95030225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95030225G>A	uc010avd.3	+	1	791	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	SERPINA4_uc001ydk.3_Missense_Mutation_p.E136K|SERPINA4_uc001ydl.3_Missense_Mutation_p.E136K	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	136					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)		CCATGGGCTGGAAACACGCGT	0.567000														36			44		0	0	0.00361006	0	0
TENC1	23371	broad.mit.edu	37	12	53456001	53456001	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:53456001C>T	uc001sbp.3	+	22	3774	c.3639C>T	c.(3637-3639)atC>atT	p.I1213I	TENC1_uc001sbl.3_Silent_p.I1089I|TENC1_uc001sbn.3_Silent_p.I1223I|TENC1_uc001sbq.3_Silent_p.I611I|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Silent_p.I708I	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1213	SH2.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGGTGAAGATCAAGGGCTGCC	0.597000														20			34		0	0	0.00111076	0	0
C3	718	broad.mit.edu	37	19	6685135	6685135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:6685135G>A	uc002mfm.3	-	29	3895	c.3833C>T	c.(3832-3834)gCc>gTc	p.A1278V		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1278					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTGAGCCAAGGCTTGGAACAC	0.542000														11			14		0	0	0.000422831	0	0
NLRP7	199713	broad.mit.edu	37	19	55451819	55451819	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55451819C>T	uc002qih.4	-	3	444	c.368G>A	c.(367-369)tGg>tAg	p.W123*	NLRP7_uc010esk.3_Nonsense_Mutation_p.W123*|NLRP7_uc002qig.4_Nonsense_Mutation_p.W123*|NLRP7_uc002qii.4_Nonsense_Mutation_p.W123*|NLRP7_uc010esl.3_Nonsense_Mutation_p.W151*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	123							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGAATTTCTCCATCCTTCCTT	0.438000														151			393		0	0	0.00361006	0	0
LIN9	286826	broad.mit.edu	37	1	226420283	226420283	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:226420283G>A	uc001hqa.2	-	14	1906	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	LIN9_uc001hqb.2_Silent_p.I497I|LIN9_uc001hqc.3_Silent_p.I464I	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	516					DNA replication|cell cycle	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GTGCAACATGGATTTCTACAT	0.323000														52			15		0	0	0.00074312	0	0
LRP1B	53353	broad.mit.edu	37	2	141986947	141986947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:141986947G>A	uc002tvj.1	-	5	1627	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	219					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)		CTTCCATTAAGATAGAAAACC	0.289000										TSP Lung(27;0.18)				30			32		0	0	0.00209593	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581424	40581424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:40581424C>T	uc010xvh.2	-	5	1076	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.E309K|ZNF780A_uc002omz.3_Missense_Mutation_p.E309K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATCCCACATTCCTTACATACA	0.388000														59			49		0	0	0.00361006	0	0
GRID2	2895	broad.mit.edu	37	4	94006212	94006212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:94006212C>T	uc011cdt.2	+	2	569	c.311C>T	c.(310-312)tCc>tTc	p.S104F	GRID2_uc010ikx.3_Missense_Mutation_p.S104F|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	104					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S104Y(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCAGCAGGATCCCTCCAGTCT	0.537000														19			18		0	0	0.00074312	0	0
OR1M1	125963	broad.mit.edu	37	19	9204520	9204520	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9204520C>T	uc010xkj.2	+	0	600	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCTTCATCCTCATTGTGGCAG	0.567000														46			50		0	0	0.00361006	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164227	150164227	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:150164227C>T	uc003whj.3	+	1	771	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	147						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCAAGATTTCATTGAAAAAA	0.448000														4			22		0	0	0.00229938	0	0
AL117485	0	broad.mit.edu	37	22	18844923	18844923	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:18844923C>T	uc002zoe.3	+	3		c.2177C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCGTTCACGTCCATCTCGCTC	0.572000														38			22		0	0	0.00178596	0	0
CAPN9	10753	broad.mit.edu	37	1	230930959	230930959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:230930959G>A	uc001htz.1	+	17	2034	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	CAPN9_uc009xfg.1_Missense_Mutation_p.D578N|CAPN9_uc001hua.1_Missense_Mutation_p.D615N	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	641	Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CAGGTATGCGGATGAGGAGCT	0.612000														16			31		0	0	0.0024448	0	0
FSIP2	401024	broad.mit.edu	37	2	186673333	186673333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:186673333G>A	uc002upl.3	+	16	19567	c.19567G>A	c.(19567-19569)Gga>Aga	p.G6523R	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GCAACAATCAGGAACCAACAA	0.313000														31			36		0	0	0.00375469	0	0
TMEM143	55260	broad.mit.edu	37	19	48845857	48845857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:48845857G>A	uc002pix.1	-	5	914	c.905C>T	c.(904-906)aCc>aTc	p.T302I	TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Missense_Mutation_p.T237I|TMEM143_uc010elw.1_Missense_Mutation_p.T202I|TMEM143_uc010xzo.1_Missense_Mutation_p.T92I|TMEM143_uc002piy.1_Missense_Mutation_p.T267I|Mir_324_uc021uws.1_5'Flank	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	302						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CTTGAGGTCGGTTAGCACCAC	0.662000														21			10		0	0	0.00136819	0	0
OR10J3	441911	broad.mit.edu	37	1	159284216	159284216	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159284216G>A	uc010piu.2	-	0	234	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A77D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TATGGGGAATGATGGCCACAG	0.483000														49			55		0	0	0.00361006	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263830	140263830	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140263830G>A	uc003lif.2	+	0	1977	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.L659L|PCDHAC2_uc003lid.3_Silent_p.L659L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	670	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCGCGCTGACGGCCACGG	0.697000														64			22		0	0	0.00188189	0	0
GPR123	84435	broad.mit.edu	37	10	134942980	134942980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:134942980C>T	uc001llw.3	+	15	3805	c.3805C>T	c.(3805-3807)Cga>Tga	p.R1269*	GPR123_uc001llx.4_Nonsense_Mutation_p.R550*			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	550						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGGCAACATCCGAACGGGACC	0.612000														1			12		0	0	0.00244969	0	0
SAMD7	344658	broad.mit.edu	37	3	169656227	169656227	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:169656227T>A	uc003fgd.3	+	8	1541	c.1274T>A	c.(1273-1275)aTg>aAg	p.M425K	SAMD7_uc003fge.3_Missense_Mutation_p.M425K|SAMD7_uc011bpo.2_Missense_Mutation_p.M326K	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	425										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGTGATACAATGAACATTTTT	0.388000														35			26		0	0	0.000878237	0	0
CARS2	79587	broad.mit.edu	37	13	111329397	111329397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:111329397G>A	uc001vrd.2	-	6	749	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	CARS2_uc010tjm.1_Non-coding_Transcript	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA.	237					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	ACCTCCTGGGGTTTGGCCGCC	0.632000														37			23		0	0	0.00278032	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297845	139297845	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:139297845C>T	uc003etj.3	-	1	202	c.162G>A	c.(160-162)ggG>ggA	p.G54G	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.G17G|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	54					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCTTTCTTCCCATAGGTGT	0.567000														23			19		0	0	0.00229938	0	0
CCR4	1233	broad.mit.edu	37	3	32995250	32995250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:32995250G>A	uc003cfg.1	+	1	504	c.336G>A	c.(334-336)atG>atA	p.M112I	CCR4_uc021wuw.1_Missense_Mutation_p.M112I	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	112					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTGCAAGATGATTTCCTGGA	0.478000														82			136		0	0	0.00361006	0	0
TEKT1	83659	broad.mit.edu	37	17	6704242	6704242	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:6704242G>A	uc002gdt.3	-	6	983	c.873C>T	c.(871-873)tcC>tcT	p.S291S	TEKT1_uc010vth.2_Silent_p.S145S	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	291					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTTTCTCCTGGGAAGCAATCT	0.502000														5			280		0	0	0.00361006	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064033	79064033	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:79064033C>T	uc002bej.4	-	14	2481	c.2270G>A	c.(2269-2271)tGg>tAg	p.W757*	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Nonsense_Mutation_p.W757*	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	757	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCCCCGTTCCACTGGATGGT	0.627000														21			14		0	0	0.00121646	0	0
SCN8A	6334	broad.mit.edu	37	12	52174539	52174539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52174539G>A	uc001ryw.3	+	20	4104	c.3926G>A	c.(3925-3927)cGa>cAa	p.R1309Q	SCN8A_uc010snl.2_Intron|SCN8A_uc001rza.1_Intron	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1309					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)	GCCTTATCACGATTTGAAGGG	0.458000														28			21		0	0	0.00332997	0	0
TINAGL1	64129	broad.mit.edu	37	1	32051447	32051447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:32051447G>A	uc001bta.3	+	9	1313	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	TINAGL1_uc010ogj.2_Missense_Mutation_p.R365Q|TINAGL1_uc010ogk.1_Missense_Mutation_p.R396Q|TINAGL1_uc021oko.1_Missense_Mutation_p.R291Q	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	396					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	p.R395C(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		AGATACCGCCGGCATGGGACC	0.612000														9			10		0	0	0.000673444	0	0
KCNA5	3741	broad.mit.edu	37	12	5155065	5155065	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:5155065G>A	uc001qni.3	+	0	1981	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	584						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCCCCCTAGAGAAGTGTAACG	0.597000														23			23		0	0	0.00332997	0	0
ZNF562	54811	broad.mit.edu	37	19	9763879	9763879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9763879G>A	uc002mly.3	-	5	1243	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	ZNF562_uc010xks.2_Missense_Mutation_p.P343S|ZNF562_uc002mlx.3_Missense_Mutation_p.P271S|ZNF562_uc010xkt.2_Missense_Mutation_p.P306S|ZNF562_uc010xku.2_Missense_Mutation_p.P274S|ZNF562_uc010xkv.1_Missense_Mutation_p.P342S|ZNF562_uc010xkw.1_Missense_Mutation_p.P227S	NM_001130031	NP_001123504	Q6V9R5	ZN562_HUMAN	Homo sapiens zinc finger protein 562 (ZNF562), transcript variant 1, mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CATTCATAGGGTTTTATTCCA	0.428000														66			36		0	0	0.00111076	0	0
RBM47	54502	broad.mit.edu	37	4	40440446	40440446	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:40440446G>A	uc003gvc.2	-	3	1175	c.465C>T	c.(463-465)atC>atT	p.I155I	RBM47_uc003gvd.2_Silent_p.I155I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.I117I|RBM47_uc003gvg.1_Silent_p.I155I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	155	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGATCCCGCCGATGAAGAGGC	0.652000														26			28		0	0	0.00127121	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618163	28618163	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:28618163G>A	uc002dqn.3	-	8	1378	c.786C>T	c.(784-786)tcC>tcT	p.S262S	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.S171S|SULT1A1_uc002dqi.3_Silent_p.S171S|SULT1A1_uc002dqk.3_Silent_p.S171S|SULT1A1_uc002dql.3_Silent_p.S171S|SULT1A1_uc002dqm.3_Silent_p.S93S|SULT1A1_uc002dqp.3_Silent_p.S171S	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	171					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GCTGGTACCAGGATCCGTAGG	0.582000														95			27		0	0	0.00327116	0	0
SGOL2	151246	broad.mit.edu	37	2	201436643	201436643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201436643C>T	uc002uvw.2	+	6	1687	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	SGOL2_uc010zhd.1_Missense_Mutation_p.S525F|SGOL2_uc010zhe.1_Missense_Mutation_p.S525F	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	525					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GGTCAGAATTCCCTAACTTGT	0.323000														81			101		0	0	0.00361006	0	0
SCD5	79966	broad.mit.edu	37	4	83602042	83602042	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:83602042C>T	uc003hna.2	-	2	707	c.387G>A	c.(385-387)agG>agA	p.R129R	SCD5_uc003hnb.4_Silent_p.R129R	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	129					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CTCGGTGGTCCCTGGACCACT	0.587000														44			35		0	0	0.000814825	0	0
ECT2L	345930	broad.mit.edu	37	6	139186242	139186242	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:139186242C>T	uc003qif.2	+	11	1726	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	ECT2L_uc021zfx.1_Silent_p.T467T|ECT2L_uc011edq.1_Silent_p.T398T	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	467					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAGAAGAAACCTTGAAAACAG	0.483000			"""N, Splice, Mis"""		ETP ALL									7			31		0	0	0.00178596	0	0
PLXDC2	84898	broad.mit.edu	37	10	20500617	20500617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:20500617C>T	uc001iqg.1	+	9	1718	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	PLXDC2_uc001iqh.1_Missense_Mutation_p.R312C|PLXDC2_uc009xkc.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	361	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGGATTTGATCGTCATCGGCA	0.438000														27			32		0	0	0.00195071	0	0
HPSE	10855	broad.mit.edu	37	4	84240599	84240600	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:84240599_84240600GG>AA	uc003hoj.4	-	2	495_496	c.396_397CC>TT	c.(394-399)atccct>atTTct	p.P133S	HPSE_uc003hoi.3_Missense_Mutation_p.P133S|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_5'UTR|HPSE_uc003hok.4_Missense_Mutation_p.P133S|HPSE_uc011cct.2_Missense_Mutation_p.P133S|HPSE_uc021xpr.1_Missense_Mutation_p.P133S	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	133					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ACATCAGGAGGGATGGATCCAT	0.426000														36			18		0	0	6.4e-05	0	0
FAM131B	9715	broad.mit.edu	37	7	143054043	143054043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143054043G>A	uc010lpa.3	-	6	827	c.683C>T	c.(682-684)tCg>tTg	p.S228L	FAM131B_uc010loz.3_Missense_Mutation_p.S168L|FAM131B_uc003wct.3_Missense_Mutation_p.S200L|FAM131B_uc003wcu.4_Missense_Mutation_p.S200L	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	200										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCATCTGACGACCCCAGACA	0.552000														54			15		0	0	0.000422831	0	0
ATP10A	57194	broad.mit.edu	37	15	26026240	26026240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:26026240G>A	uc010ayu.3	-	1	686	c.580C>T	c.(580-582)Cac>Tac	p.H194Y		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	194					ATP biosynthetic process|regulation of cell shape	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(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTCTCGATGTGGCATAGCCCG	0.592000														50			31		0	0	0.001512	0	0
CDH20	28316	broad.mit.edu	37	18	59166487	59166487	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:59166487C>G	uc010dps.1	+	1	467	c.315C>G	c.(313-315)atC>atG	p.I105M	CDH20_uc002lif.2_Missense_Mutation_p.I99M	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	105	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGCTGGCATCGTGTTTACCA	0.517000														30			13		0	0	0.000422831	0	0
NCKAP5	344148	broad.mit.edu	37	2	133751795	133751795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:133751795C>T	uc002ttp.3	-	6	733	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	NCKAP5_uc002ttq.3_Missense_Mutation_p.R120Q|NCKAP5_uc002tts.1_Missense_Mutation_p.R95Q	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	120							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						CAATAGATTTCGTACTGTTTC	0.348000														15			5		0	0	0.000602214	0	0
MAP4K2	5871	broad.mit.edu	37	11	64568600	64568600	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64568600G>A	uc001obh.3	-	7	605	c.513C>T	c.(511-513)ttC>ttT	p.F171F	MAP4K2_uc001obi.3_Silent_p.F171F	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	171	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GAGTCCCAATGAAAGACCTCC	0.637000														16			29		0	0	0.00178596	0	0
OR2K2	26248	broad.mit.edu	37	9	114090351	114090351	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:114090351G>A	uc011lwp.2	-	0	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CCACATAACGGTCATATGCCA	0.532000														8			41		0	0	0.00170553	0	0
DUOXA2	405753	broad.mit.edu	37	15	45410015	45410015	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:45410015C>T	uc001zuo.3	+	5	1152	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	DUOXA2_uc010beb.3_Non-coding_Transcript|DUOXA1_uc010uem.2_Intron|DUOXA1_uc001zup.3_Intron|DUOXA1_uc010bec.3_Intron	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.	291					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GGACTGCAGCCAGGAGAGAGG	0.612000											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			45		0	0	0.00361006	0	0
SORCS3	22986	broad.mit.edu	37	10	106937871	106937871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:106937871C>T	uc001kyi.1	+	13	2176	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	SORCS3_uc010qqz.1_Intron	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	650						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTTTCACTTCGGTTCCTCTC	0.473000														8			43		0	0	0.00361006	0	0
CFL1	1072	broad.mit.edu	37	11	65623156	65623156	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65623156G>T	uc001ofs.3	-	2	888	c.357C>A	c.(355-357)agC>agA	p.S119R	CFL1_uc001oft.3_Missense_Mutation_p.S119R	NM_005507	NP_005498	P23528	COF1_HUMAN	Homo sapiens cofilin 1 (non-muscle) (CFL1), mRNA.	119	ADF-H.				Rho protein signal transduction|actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CGTCCTTGGAGCTGGCATAAA	0.577000														47			11		2.68362e-12	7.82097e-12	0.00136819	1	0
EPHB1	2047	broad.mit.edu	37	3	134885813	134885813	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:134885813A>T	uc003eqt.3	+	8	2099	c.1724A>T	c.(1723-1725)tAc>tTc	p.Y575F	EPHB1_uc003equ.3_Missense_Mutation_p.Y136F	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	575						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAGGCTGTGTACAGCGATAAG	0.547000														160			46		0	0	0.00361006	0	0
SIK3	23387	broad.mit.edu	37	11	116824823	116824823	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:116824823C>T	uc001ppy.3	-	3	253	c.217_splice	c.e3-1	p.V73_splice	SIK3_uc001ppz.3_Splice_Site|SIK3_uc001pqa.3_Splice_Site_p.V73_splice|Mir_548_uc021qqu.1_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	73	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GTCTCCATAACCTGGTGCAAA	0.368000														23			161		0	0	0.00361006	0	0
CCDC91	55297	broad.mit.edu	37	12	28412319	28412319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:28412319G>A	uc001riq.3	+	1	67	c.53G>A	c.(52-54)gGa>gAa	p.G18E	CCDC91_uc001rio.3_5'UTR|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.G18E	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	18					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTTGATGGTGGAAGTGGTGAA	0.398000														53			26		0	0	0.0024448	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21353449	21353449	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:21353449C>T	uc001req.4	+	8	1082	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	326					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CAGGTTTTTTCCAGTCTTTTA	0.274000														18			9		0	0	0.000274275	0	0
IL11	3589	broad.mit.edu	37	19	55879926	55879926	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55879926G>A	uc002qks.1	-	2	328	c.192C>T	c.(190-192)ttC>ttT	p.F64F	IL11_uc010yfx.1_5'UTR	NM_000641	NP_000632	P20809	IL11_HUMAN	Homo sapiens interleukin 11 (IL11), mRNA.	64					B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	CGTCAGCTGGGAATTTGTCCC	0.667000														33			14		0	0	0.000422831	0	0
abParts	0	broad.mit.edu	37	22	23264834	23264834	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:23264834G>A	uc021wml.1	+	445		c.18303G>A								Parts of antibodies, mostly variable regions.																		AGCCAACAAGGCCACACTGGT	0.632000														47			26		0	0	0.00106085	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950772	235950772	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:235950772C>T	uc002vvp.3	+	3	1752	c.1359C>T	c.(1357-1359)gtC>gtT	p.V453V	SH3BP4_uc010fym.3_Silent_p.V453V|SH3BP4_uc002vvq.3_Silent_p.V453V	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	453					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ACGTGGCTGTCGTGGCCCATG	0.572000														20			5		0	0	0.00116845	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814582	88814582	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:88814582G>A	uc010iko.1	+	3	1209	c.1209G>A	c.(1207-1209)ggG>ggA	p.G403G						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		AGTTTGATGGGAAAAGCCTGG	0.498000														9			9		0	0	0.000274275	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181252	19181252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:19181252C>T	uc001bba.1	-	2	713	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	238					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCAGCGTCTCCTGGAAGGCG	0.642000														13			16		0	0	0.000422831	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175862	143175862	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143175862G>A	uc003wdc.1	+	0	897	c.897G>A	c.(895-897)ttG>ttA	p.L299L	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	299					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AGCTCCTGTTGTTGGCAAGGG	0.537000														35			6		0	0	0.00307968	0	0
TEX13A	56157	broad.mit.edu	37	X	104464876	104464876	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:104464876C>T	uc004ema.3	-	1	318	c.206G>A	c.(205-207)tGg>tAg	p.W69*	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Nonsense_Mutation_p.W69*	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	69						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAGGCTGCCCCAGGTGCAGGC	0.587000														4			12		0	0	0.000978159	0	0
GABRR1	2569	broad.mit.edu	37	6	89910970	89910970	+	Missense_Mutation	SNP	C	T	T	rs146686910	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:89910970C>T	uc003pna.2	-	2	643	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	GABRR1_uc011dzv.1_Missense_Mutation_p.R40Q	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	63					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GTCAGGACTTCGTCTCAGAAT	0.453000														8			44		0	0	0.00361006	0	0
PER2	8864	broad.mit.edu	37	2	239186556	239186556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:239186556G>A	uc002vyc.3	-	1	259	c.22C>T	c.(22-24)Ccg>Tcg	p.P8S	PER2_uc010znv.1_Missense_Mutation_p.P8S|PER2_uc010znw.1_Missense_Mutation_p.P8S|PER2_uc010fyx.1_Missense_Mutation_p.P8S	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	8					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGGCTGGGCGGAAATTCCGCG	0.607000														21			9		0	0	0.000442599	0	0
CCDC158	339965	broad.mit.edu	37	4	77305440	77305440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:77305440C>T	uc003hkb.4	-	4	680	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	CCDC158_uc003hkd.3_Missense_Mutation_p.R176Q	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	176										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CATCATTTTTCGTAGTTGCTC	0.398000														43			39		0	0	0.0025221	0	0
TSPAN17	26262	broad.mit.edu	37	5	176084625	176084626	+	Missense_Mutation	DNP	CC	TT	TT	rs147674980	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176084625_176084626CC>TT	uc003met.3	+	8	1154_1155	c.925_926CC>TT	c.(925-927)ccg>TTg	p.P309L	TSPAN17_uc003mes.3_3'UTR|TSPAN17_uc003meu.3_Missense_Mutation_p.P306L|TSPAN17_uc003mew.3_3'UTR	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	161						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggcccctggcccggccccaccc	0.535000														20			6		0	0	6.4e-05	0	0
OR2B3	442184	broad.mit.edu	37	6	29054742	29054742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29054742G>A	uc003nlx.3	-	0	349	c.284C>T	c.(283-285)gCt>gTt	p.A95V		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CACACAGCCAGCATAGCTGAT	0.453000														61			47		0	0	0.00361006	0	0
LRP1B	53353	broad.mit.edu	37	2	141709478	141709478	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:141709478G>A	uc002tvj.1	-	18	3891	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F	LRP1B_uc010fnl.1_Silent_p.F155F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	973	LDL-receptor class A 6.				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)		TTTTGCATACGAATTGGGTTA	0.418000										TSP Lung(27;0.18)				40			22		0	0	0.00332997	0	0
GPX6	257202	broad.mit.edu	37	6	28483515	28483515	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28483515G>A	uc021yrx.1	-	0	56	c.6C>T	c.(4-6)ttC>ttT	p.F2F	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	2					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGAACTGCTGGAACATGGCTA	0.537000														25			18		0	0	0.00121646	0	0
ADAM30	11085	broad.mit.edu	37	1	120438567	120438567	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:120438567C>T	uc001eij.3	-	0	581	c.393G>A	c.(391-393)ggG>ggA	p.G131G		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	131					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTCGGAGACCCCCCATGCATG	0.463000														553			169		0	0	0.00361006	0	0
APOB	338	broad.mit.edu	37	2	21227176	21227176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:21227176C>T	uc002red.3	-	27	12180	c.12052G>A	c.(12052-12054)Gac>Aac	p.D4018N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4018					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D4017D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTAGAAAAGTCGTCATCTTCA	0.507000														157			269		0	0	0.00361006	0	0
NBAS	51594	broad.mit.edu	37	2	15307360	15307360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:15307360G>A	uc002rcc.1	-	51	6954	c.6928C>T	c.(6928-6930)Cca>Tca	p.P2310S	NBAS_uc002rcb.1_Missense_Mutation_p.P150S|NBAS_uc010exl.1_Missense_Mutation_p.P1382S|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2310										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACAATACGTGGATAGAAGGGA	0.547000														9			35		0	0	0.00327116	0	0
PRR12	57479	broad.mit.edu	37	19	50098089	50098089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50098089C>T	uc002poo.4	+	3	497	c.497C>T	c.(496-498)tCg>tTg	p.S166L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	579	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCAGTGCCCTCGTCCCTCAGC	0.672000														31			7		0	0	0.00198382	0	0
CENPB	1059	broad.mit.edu	37	20	3765728	3765728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3765728G>A	uc002wjk.3	-	0	1610	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	Homo sapiens centromere protein B, 80kDa (CENPB), mRNA.	468					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CAAGCCCTCCGAGGAGCTCTC	0.612000														19			15		0	0	0.000958276	0	0
PDIA2	64714	broad.mit.edu	37	16	336925	336925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:336925G>A	uc002cgn.1	+	14	2621	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.E505K|PDIA2_uc010bqt.1_Missense_Mutation_p.E350K	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	505					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCCCCGGAGGAGCCAGCAGC	0.632000														6			11		0	0	0.00185496	0	0
SZT2	23334	broad.mit.edu	37	1	43893239	43893239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:43893239C>T	uc001cjk.2	+	24	3550	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1213						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCCACCATTCCGTCGAGACTT	0.557000														106			30		0	0	0.00327116	0	0
AMZ1	155185	broad.mit.edu	37	7	2749363	2749363	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:2749363G>A	uc003smr.1	+	5	1222	c.861G>A	c.(859-861)gaG>gaA	p.E287E	AMZ1_uc003sms.1_Missense_Mutation_p.G231S|AMZ1_uc011jwa.1_Silent_p.E36E	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	287							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCCTGGACGAGGCCCTGCGGC	0.667000											OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			19		0	0	0.00278032	0	0
CDS2	8760	broad.mit.edu	37	20	5154251	5154251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:5154251C>T	uc002wls.3	+	1	472	c.140C>T	c.(139-141)tCt>tTt	p.S47F	CDS2_uc002wlr.2_5'UTR|CDS2_uc002wlw.3_Intron|CDS2_uc002wlv.3_5'Flank	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	47					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CTGCCAGTCTCTGCAGATGAT	0.532000														75			114		0	0	0.00361006	0	0
RNF123	63891	broad.mit.edu	37	3	49753850	49753851	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:49753850_49753851CC>TT	uc003cxh.3	+	34	3526_3527	c.3440_3441CC>TT	c.(3439-3441)ccc>cTT	p.P1147L	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	1147						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)		GACCACTATCCCATTCTGGTGG	0.639000														20			127		0	0	6.4e-05	0	0
HRNR	388697	broad.mit.edu	37	1	152191013	152191013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152191013G>A	uc001ezt.1	-	2	3168	c.3092C>T	c.(3091-3093)tCa>tTa	p.S1031L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1031					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCACCCTGAGCCAGACCT	0.597000														87			114		0	0	0.00361006	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421780	115421780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:115421780C>T	uc011lwx.1	+	4	1841	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	KIAA1958_uc004bgf.1_Missense_Mutation_p.R528C	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	528								p.L555L(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CGCGCGTTCTCGCAACATCGT	0.572000														2			12		0	0	0.00244969	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635633	34635633	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:34635633C>A	uc002yrd.3	+	8	1704	c.1376C>A	c.(1375-1377)cCa>cAa	p.P459Q	IFNAR2_uc002yre.3_Missense_Mutation_p.P459Q|IFNAR2_uc002yrf.3_3'UTR|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	459					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	ATGGTTGACCCAGAGGATCCT	0.512000														300			9		3.86212e-05	0.000111737	0.000673444	1	0
APLNR	187	broad.mit.edu	37	11	57004301	57004301	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:57004301T>C	uc001njo.3	-	0	627	c.178A>G	c.(178-180)Aag>Gag	p.K60E	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	60						integral to plasma membrane	G-protein coupled receptor activity	p.E59E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GAGCGCCTCTTCTCCCGGCTG	0.622000														14			25		0	0	0.000720815	0	0
APOB	338	broad.mit.edu	37	2	21231540	21231540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:21231540G>A	uc002red.3	-	25	8328	c.8200C>T	c.(8200-8202)Cct>Tct	p.P2734S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2734				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.P2734S(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAAGGTCAGGAACTTGAAAA	0.418000														217			326		0	0	0.00361006	0	0
TBX2	6909	broad.mit.edu	37	17	59485548	59485548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:59485548C>T	uc010wox.2	+	6	2101	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Missense_Mutation_p.S453F	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	607					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						gGCTCCCTCTCCCGGAGCCCC	0.706000														18			8		0	0	0.000442599	0	0
HSCB	150274	broad.mit.edu	37	22	29139939	29139940	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:29139939_29139940CC>TT	uc003aea.3	+	1	347_348	c.306_307CC>TT	c.(304-309)caccca>caTTca	p.P103S	CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adx.1_5'Flank	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.	103	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	p.H102D(1)		kidney(1)|lung(2)|skin(1)	4						GTCTTGTCCACCCAGATTTCTT	0.485000														105			46		0	0	6.4e-05	0	0
BRPF3	27154	broad.mit.edu	37	6	36198362	36198362	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:36198362C>T	uc003olv.4	+	12	3818	c.3594C>T	c.(3592-3594)tcC>tcT	p.S1198S	BRPF3_uc010jwb.3_Silent_p.S928S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.S864S|BRPF3_uc010jwd.3_Silent_p.S100S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1198					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGCCCCACTCCTTCGTCACTT	0.632000														25			20		0	0	0.00278032	0	0
PLBD2	196463	broad.mit.edu	37	12	113824828	113824829	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:113824828_113824829GG>AA	uc001tve.2	+	9	1408_1409	c.1373_1374GG>AA	c.(1372-1374)cgg>cAA	p.R458Q	PLBD2_uc001tvf.2_Missense_Mutation_p.R426Q	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	458					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGGAGCCCCCGGGCCCAGATCT	0.609000														41			39		0	0	6.4e-05	0	0
KCND2	3751	broad.mit.edu	37	7	119915781	119915781	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:119915781C>T	uc003vjj.1	+	0	2060	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	365					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGTATACCATCGTCACCATGA	0.507000														79			12		0	0	0.00244969	0	0
KRT74	121391	broad.mit.edu	37	12	52963677	52963677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52963677C>T	uc001sap.1	-	5	1148	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	367	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ACACCGGATCCTCTGGATGAG	0.602000														58			23		0	0	0.00332997	0	0
DNAH10	196385	broad.mit.edu	37	12	124393903	124393903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:124393903G>A	uc001uft.4	+	56	9582	c.9557G>A	c.(9556-9558)gGc>gAc	p.G3186D		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3186	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACAGCCAAGGGCGTGATGTCC	0.507000														15			6		0	0	0.00116845	0	0
CXCR3	2833	broad.mit.edu	37	X	70836566	70836566	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:70836566C>T	uc022bys.1	-	0	897	c.897G>A	c.(895-897)cgG>cgA	p.R299R	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Silent_p.R252R|CXCR3_uc011mpx.2_Silent_p.R299R	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	252					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GCCGCATGGCCCGCAGGCGCC	0.662000														1			5		0	0	0.00116845	0	0
L1TD1	54596	broad.mit.edu	37	1	62677026	62677026	+	Silent	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:62677026G>C	uc021ooc.1	+	4	3015	c.2580G>C	c.(2578-2580)ctG>ctC	p.L860L	L1TD1_uc001dae.4_Silent_p.L860L	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	860			L -> V (in dbSNP:rs11207934).							breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gagaattactggggaatAATA	0.368000														52			22		0	0	0.00278032	0	0
ATP2A1	487	broad.mit.edu	37	16	28914725	28914725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:28914725G>A	uc002dro.1	+	20	3128	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E982K|ATP2A1_uc002drp.1_Missense_Mutation_p.E857K	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	982					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.D981D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGGCTCGACGAAATCCTCAA	0.612000														70			21		0	0	0.00188189	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4411374	4411374	+	Missense_Mutation	SNP	G	A	A	rs147901888		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:4411374G>A	uc002cwf.3	-	16	2118	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R339C|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R559C|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R541C|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R474C|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.R339C|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		ACAGCGAGGCGATGGGGGTCA	0.667000														48			16		0	0	0.000958276	0	0
SGK223	157285	broad.mit.edu	37	8	8234162	8234162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:8234162G>A	uc003wsh.4	-	1	1757	c.1757C>T	c.(1756-1758)cCa>cTa	p.P586L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	586							ATP binding|non-membrane spanning protein tyrosine kinase activity										ACCTTGGGATGGAGGCTGGGG	0.677000														10			17		0	0	0.00152264	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103026069	103026069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:103026069C>T	uc001phn.1	+	24	3727	c.3583C>T	c.(3583-3585)Cct>Tct	p.P1195S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P1195S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1195	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATCGTAATTCCTATCTTGAA	0.333000														3			18		0	0	0.000566183	0	0
ACACB	32	broad.mit.edu	37	12	109692107	109692107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:109692107C>T	uc001tob.3	+	43	6253	c.6134C>T	c.(6133-6135)cCc>cTc	p.P2045L	ACACB_uc001toc.3_Missense_Mutation_p.P2045L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.P711L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2045	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCTACGACCCCCGGTGGATG	0.493000														62			75		0	0	0.00361006	0	0
THSD7B	80731	broad.mit.edu	37	2	137814638	137814638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:137814638G>A	uc002tva.1	+	1	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.G122E	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATCCAAGCGGAAGAACTGTT	0.393000														101			65		0	0	0.00361006	0	0
EPG5	57724	broad.mit.edu	37	18	43445620	43445620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:43445620C>T	uc002lbm.3	-	38	6826	c.6726G>A	c.(6724-6726)atG>atA	p.M2242I	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.M796I|EPG5_uc002lbn.2_Missense_Mutation_p.M1117I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2242					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGAGCTTAGACATTTCCTGTT	0.438000														48			41		0	0	0.00148497	0	0
CD163L1	283316	broad.mit.edu	37	12	7528454	7528454	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7528454G>C	uc010sge.2	-	9	2584	c.2558C>G	c.(2557-2559)tCt>tGt	p.S853C	CD163L1_uc001qsy.3_Missense_Mutation_p.S843C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	843	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACAGAAAGAGATATGGCATC	0.458000														27			44		0	0	0.00361006	0	0
HSPA9	3313	broad.mit.edu	37	5	137893590	137893590	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:137893590G>C	uc003ldf.3	-	12	1912	c.1601C>G	c.(1600-1602)gCt>gGt	p.A534G	HSPA9_uc011cyw.2_Intron	NM_004134	NP_004125	P38646	GRP75_HUMAN	Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA.	534					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTATCTTTAGCAGAAACATG	0.428000														74			20		0	0	0.00121646	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635104	34635104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:34635104C>T	uc002yrd.3	+	8	1175	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	IFNAR2_uc002yre.3_Missense_Mutation_p.H283Y|IFNAR2_uc002yrf.3_Missense_Mutation_p.S239L|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	283					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TAAGAATTTTCATAACTTTTT	0.373000														50			36		0	0	0.00148497	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657659	100657659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:100657659G>A	uc009ztv.1	-	1	173	c.170C>T	c.(169-171)cCt>cTt	p.P57L	DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.P57L|DEPDC4_uc001thj.1_Intron|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	57					intracellular signal transduction			p.P57S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AGCTTGAAAAGGACCAGAGCA	0.338000														23			27		0	0	0.00178596	0	0
MFSD4	148808	broad.mit.edu	37	1	205549071	205549071	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:205549071C>T	uc001hcv.4	+	1	509	c.423C>T	c.(421-423)ttC>ttT	p.F141F	MFSD4_uc010prk.2_Silent_p.F141F|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F86F	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	141					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CGGCCGTCTTCCTCCAGGTAA	0.672000														4			15		0	0	0.000422831	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65208001	65208001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:65208001C>T	uc002aoa.3	+	1	69	c.40C>T	c.(40-42)Cct>Tct	p.P14S	ANKDD1A_uc002anx.1_Missense_Mutation_p.P14S|ANKDD1A_uc002any.3_5'UTR|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_5'UTR	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	14					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CACAGTGCTTCCTCTGGAGAG	0.577000														27			33		0	0	0.00128727	0	0
ADAM18	8749	broad.mit.edu	37	8	39564414	39564414	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:39564414C>T	uc003xni.3	+	17	2063	c.2008C>T	c.(2008-2010)Cag>Tag	p.Q670*	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Nonsense_Mutation_p.Q646*	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	670					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGGAAATTTTCAGAAATCTGG	0.328000														51			38		0	0	0.000953801	0	0
NAV3	89795	broad.mit.edu	37	12	78573391	78573391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:78573391G>A	uc001syp.3	+	28	5619	c.5446G>A	c.(5446-5448)Gat>Aat	p.D1816N	NAV3_uc001syo.3_Missense_Mutation_p.D1794N|NAV3_uc010sub.2_Missense_Mutation_p.D1273N|NAV3_uc009zsf.3_Missense_Mutation_p.D625N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1816						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.D1794Y(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAATTAACGGATATTCGGCT	0.463000										HNSCC(70;0.22)				60			31		0	0	0.00127121	0	0
COL12A1	1303	broad.mit.edu	37	6	75855928	75855928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:75855928C>T	uc021zbv.1	-	22	4485	c.4450G>A	c.(4450-4452)Gat>Aat	p.D1484N	COL12A1_uc021zbw.1_Missense_Mutation_p.D320N|COL12A1_uc003phs.3_Missense_Mutation_p.D1484N|COL12A1_uc003pht.3_Missense_Mutation_p.D320N	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1484	Fibronectin type-III 10.				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						GGGCCAACATCATAAATATTC	0.453000														6			24		0	0	0.00395357	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892007	2892007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:2892007G>A	uc002kln.3	+	3	2041	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	628					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.E628K(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCTTCAAAAGGAAATGAGCAA	0.438000														7			21		0	0	0.00106085	0	0
SLC12A8	84561	broad.mit.edu	37	3	124906250	124906251	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:124906250_124906251CC>AT	uc003ehw.4	-	3	377_378	c.307_308GG>AT	c.(307-309)ggc>ATc	p.G103I	SLC12A8_uc003ehv.4_Missense_Mutation_p.G74I|SLC12A8_uc010hrz.1_5'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	74					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CAGGAACATGCCCAGGAGCACT	0.629000														20			17		0	0	6.4e-05	0	0
TRRAP	8295	broad.mit.edu	37	7	98575900	98575900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:98575900C>T	uc003upp.3	+	55	8640	c.8431C>T	c.(8431-8433)Cct>Tct	p.P2811S	TRRAP_uc011kis.2_Missense_Mutation_p.P2793S|TRRAP_uc003upr.3_Missense_Mutation_p.P2510S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2811	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAACGCCTCCCCTGCTATTTT	0.418000														119			20		0	0	0.00121646	0	0
NPAT	4863	broad.mit.edu	37	11	108031638	108031638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:108031638G>A	uc001pjz.4	-	16	4277	c.4175C>T	c.(4174-4176)tCa>tTa	p.S1392L	NPAT_uc010rvv.2_Missense_Mutation_p.S448L	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	1392					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGTATTGATGAATTTGTAAG	0.338000														0			24		0	0	0.00395357	0	0
TMEM244	253582	broad.mit.edu	37	6	130164701	130164701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:130164701G>A	uc003qbs.3	-	2	250	c.167C>T	c.(166-168)cCc>cTc	p.P56L	ARHGAP18_uc021zfe.1_Intron	NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	Homo sapiens chromosome 6 open reading frame 191 (C6orf191), mRNA.	56						integral to membrane											GAGCCATGAGGGATTTGTTTT	0.303000														9			62		0	0	0.00361006	0	0
MUC5B	727897	broad.mit.edu	37	11	1272721	1272721	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:1272721C>T	uc001lta.3	+	30	14670	c.14611C>T	c.(14611-14613)Ctg>Ttg	p.L4871L		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4871	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACTCTGGGAACAGC	0.657000														13			11		0	0	0.000978159	0	0
PIK3R5	23533	broad.mit.edu	37	17	8814745	8814745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:8814745C>T	uc002glt.3	-	1	134	c.67G>A	c.(67-69)Gga>Aga	p.G23R	PIK3R5_uc010vuz.2_Missense_Mutation_p.G23R|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_Intron|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	23					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGCTGAGTCCATGCAGGCAG	0.682000														7			88		0	0	0.00361006	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101735366	101735366	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:101735366C>T	uc003knn.3	-	9	1879	c.1707G>A	c.(1705-1707)ggG>ggA	p.G569G	SLCO6A1_uc003kno.3_Silent_p.G316G|SLCO6A1_uc003knp.3_Silent_p.G569G|SLCO6A1_uc003knq.3_Silent_p.G507G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	569						integral to membrane|plasma membrane	transporter activity	p.G569G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CATCACATTTCCCGGGTCTGG	0.368000														32			40		0	0	0.0025221	0	0
UPK1A	11045	broad.mit.edu	37	19	36168744	36168744	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36168744G>A	uc010eeh.3	+	6	777	c.777G>A	c.(775-777)tcG>tcA	p.S259S	UPK1A_uc002oaw.3_Missense_Mutation_p.D227N			O00322	UPK1A_HUMAN	Homo sapiens uroplakin 1A (UPK1A), mRNA.	0					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACGCCATCGACAGCTACAC	0.637000														16			6		0	0	0.00198382	0	0
TMC5	79838	broad.mit.edu	37	16	19451763	19451763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:19451763C>T	uc002dgc.4	+	2	1152	c.403C>T	c.(403-405)Cct>Tct	p.P135S	TMC5_uc010vaq.2_Missense_Mutation_p.P135S|TMC5_uc002dgb.4_Missense_Mutation_p.P135S|TMC5_uc010var.2_Missense_Mutation_p.P135S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	135						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAACGAAATCCTGATTTTGC	0.498000														80			128		0	0	0.00361006	0	0
PEBP4	157310	broad.mit.edu	37	8	22675180	22675180	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:22675180G>A	uc003xcn.1	-	3	419	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_144962	NP_659399	Q96S96	PEBP4_HUMAN	Homo sapiens phosphatidylethanolamine-binding protein 4 (PEBP4), mRNA.	109						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		AATGTCTCCAGAATCTCTGTC	0.483000														42			57		0	0	0.00361006	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121612675	121612675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:121612675C>T	uc003vjy.3	+	3	780	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	PTPRZ1_uc011knt.2_Missense_Mutation_p.H129Y|PTPRZ1_uc003vjz.3_Missense_Mutation_p.H129Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	129	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATAACTTTTCACTGGGGAAA	0.363000														108			62		0	0	0.00361006	0	0
NLRP13	126204	broad.mit.edu	37	19	56436372	56436372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56436372G>A	uc010ygg.2	-	1	374	c.349C>T	c.(349-351)Cca>Tca	p.P117S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	117							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCTGGGTTGGATCTTGCAGC	0.443000														32			38		0	0	0.00361006	0	0
DHX57	90957	broad.mit.edu	37	2	39029995	39029995	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:39029995G>A	uc002rrf.3	-	22	3978	c.3879C>T	c.(3877-3879)ttC>ttT	p.F1293F	DHX57_uc002rrd.4_Silent_p.F632F|DHX57_uc002rre.3_Silent_p.F726F	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1293							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGTCTCGGATGAATACTCGAC	0.483000														57			81		0	0	0.00361006	0	0
ODAM	54959	broad.mit.edu	37	4	71068511	71068511	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:71068511G>A	uc003hfc.3	+	8	704	c.687G>A	c.(685-687)gcG>gcA	p.A229A		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	229					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						AAAAAGAAGCGATCAACTTTA	0.388000														20			7		0	0	0.00198382	0	0
CWH43	80157	broad.mit.edu	37	4	49019273	49019273	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:49019273G>A	uc003gyv.3	+	8	1376	c.1194G>A	c.(1192-1194)tgG>tgA	p.W398*	CWH43_uc011bzl.2_Nonsense_Mutation_p.W371*	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	398					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TAGTTCTGTGGCTGCTTGTTG	0.358000														28			27		0	0	0.0024448	0	0
PRAM1	84106	broad.mit.edu	37	19	8563512	8563512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:8563512G>A	uc002mkd.3	-	1	1243	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	442	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						ACGGCCGCAGGCAGTGAGCTC	0.672000														8			19		0	0	0.00188189	0	0
STOX1	219736	broad.mit.edu	37	10	70645751	70645751	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:70645751T>C	uc001jos.2	+	2	2286	c.2199T>C	c.(2197-2199)agT>agC	p.S733S	STOX1_uc001joq.3_Silent_p.S623S|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.S623S	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	733						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTGCCTGTAGTTCATTATATC	0.453000														39			43		0	0	0.00285205	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519373	113519373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:113519373C>T	uc010ljy.1	-	3	1805	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	592					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACAGCTTCTTCCCAACTTAAA	0.468000														115			21		0	0	0.00278032	0	0
PIR	8544	broad.mit.edu	37	X	15477785	15477785	+	Silent	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:15477785A>G	uc004cwu.3	-	3	753	c.268T>C	c.(268-270)Ttg>Ctg	p.L90L	FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Silent_p.L90L	NM_003662	NP_003653	O00625	PIR_HUMAN	Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.	90					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	p.D89H(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CATACCTGCAAATCTCCTGGG	0.483000														17			118		0	0	0.00361006	0	0
TIE1	7075	broad.mit.edu	37	1	43774700	43774700	+	Silent	SNP	C	T	T	rs150072485		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:43774700C>T	uc001ciu.3	+	7	1263	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	TIE1_uc010okd.2_Silent_p.F362F|TIE1_uc010oke.2_Silent_p.F317F|TIE1_uc009vwq.3_Silent_p.F318F|TIE1_uc010okf.1_Silent_p.F7F|TIE1_uc010okg.2_Silent_p.F7F|TIE1_uc010okc.2_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	362					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)				AACTGGAGTTCAACTTAGAGA	0.607000														14			49		0	0	0.00361006	0	0
OVGP1	5016	broad.mit.edu	37	1	111957394	111957394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:111957394G>A	uc001eba.3	-	10	1785	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	OVGP1_uc001eaz.3_Missense_Mutation_p.P539S|OVGP1_uc010owb.2_Missense_Mutation_p.P225S	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	577					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTTCTGGAGGGGACAGTCACC	0.517000														49			88		0	0	0.00361006	0	0
OR2A2	442361	broad.mit.edu	37	7	143807053	143807053	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143807053C>T	uc011ktz.2	+	0	378	c.378C>T	c.(376-378)tgC>tgT	p.C126C		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGGCCATCTGCCACCCTTTCC	0.473000														120			34		0	0	0.0024448	0	0
VHL	7428	broad.mit.edu	37	3	10191547	10191547	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:10191547C>T	uc003bvc.3	+	2	753	c.540C>T	c.(538-540)atC>atT	p.I180I	VHL_uc003bvd.3_Silent_p.I139I	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	180			I -> V (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.I180fs*22(4)|p.I180N(4)|p.D179fs*23(3)|p.L178_V181del(2)|p.I180fs*21(2)|p.D179_I180del(2)|p.D179fs*>36(2)|p.D179A(1)|p.D179N(1)|p.D179fs*36(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GACTGGACATCGTCAGGTCGC	0.517000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia					28			10		0	0	0.000442599	0	0
BMP5	653	broad.mit.edu	37	6	55659192	55659192	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:55659192C>T	uc003pcq.3	-	2	1429	c.717G>A	c.(715-717)aaG>aaA	p.K239K	BMP5_uc011dxf.2_Silent_p.K239K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	239					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAGCTTGGGCCTTTCTTGTGT	0.373000														79			57		0	0	0.00361006	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6081952	6081952	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:6081952A>G	uc010idb.1	-	6	1675	c.1189T>C	c.(1189-1191)Ttc>Ctc	p.F397L	JAKMIP1_uc010idc.1_Missense_Mutation_p.F232L|JAKMIP1_uc010idd.1_Missense_Mutation_p.F397L|JAKMIP1_uc003giu.4_Missense_Mutation_p.F397L|JAKMIP1_uc011bwc.2_Missense_Mutation_p.F232L|JAKMIP1_uc003giv.4_Missense_Mutation_p.F397L|JAKMIP1_uc010ide.3_Missense_Mutation_p.F397L	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	397	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCCTCAGGAACTCGATCTCC	0.607000														13			15		0	0	0.00316338	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985083	64985083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64985083C>T	uc021qlg.1	+	2	596	c.563C>T	c.(562-564)tCc>tTc	p.S188F	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	186					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TATTTCAGCTCCTTCAGTGCC	0.617000														19			13		0	0	0.00244969	0	0
PRPF4B	8899	broad.mit.edu	37	6	4041016	4041016	+	Missense_Mutation	SNP	C	T	T	rs143126415		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:4041016C>T	uc003mvv.3	+	3	1514	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	475	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGACAGAGGTCGGAGGAGCAG	0.438000														90			19		0	0	0.00152264	0	0
PHF17	79960	broad.mit.edu	37	4	129783278	129783278	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:129783278C>T	uc011cgy.2	+	8	1715	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	PHF17_uc003igj.3_Silent_p.I467I|PHF17_uc003igk.3_Silent_p.I467I|PHF17_uc003igl.3_Silent_p.I455I|PHF17_uc003igm.3_Silent_p.I467I	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	467					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCCCCTGATCACCCCAAAGA	0.532000														33			29		0	0	0.00127121	0	0
SLC39A5	283375	broad.mit.edu	37	12	56631453	56631454	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56631453_56631454GG>AA	uc010sqj.2	+	12	1818_1819	c.1561_1562GG>AA	c.(1561-1563)ggc>AAc	p.G521N	SLC39A5_uc010sqk.2_Missense_Mutation_p.G521N	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	521					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGGGGGGCGGCCTCATGCTT	0.653000														28			6		0	0	6.4e-05	0	0
ALPK2	115701	broad.mit.edu	37	18	56203768	56203768	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:56203768G>A	uc002lhj.4	-	4	3865	c.3651C>T	c.(3649-3651)atC>atT	p.I1217I	ALPK2_uc002lhk.1_Silent_p.I548I	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1217				I -> T (in Ref. 4; BAC03812).			ATP binding|protein serine/threonine kinase activity	p.Y1217N(1)		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						CTTCCAAAAGGATATCAGAGA	0.512000														98			90		0	0	0.00361006	0	0
PSG8	440533	broad.mit.edu	37	19	43268180	43268180	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:43268180G>A	uc002ouo.2	-	1	416	c.318C>T	c.(316-318)tcC>tcT	p.S106S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Silent_p.S106S|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	106	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGATCAGCAGGGATGCATTGG	0.428000														125			89		0	0	0.00361006	0	0
FADS3	3995	broad.mit.edu	37	11	61643405	61643405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:61643405G>A	uc001nsm.3	-	10	1357	c.1204C>T	c.(1204-1206)Ccg>Tcg	p.P402S		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	402					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTGACCAGCGGGGCCACCCGG	0.652000														79			40		0	0	0.00222228	0	0
PSMD10	5716	broad.mit.edu	37	X	107331010	107331010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:107331010G>A	uc004enp.2	-	3	557	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PSMD10_uc004enq.2_Missense_Mutation_p.R145W|PSMD10_uc010nph.2_Missense_Mutation_p.R96W	NM_002814	NP_002805	O75832	PSD10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 (PSMD10), transcript variant 1, mRNA.	145	Interaction with RELA.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|mRNA metabolic process|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGCTGCCCGGTGCATTGCT	0.458000														6			44		0	0	0.00361006	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408085	107408085	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:107408085T>G	uc003ver.2	-	19	2421	c.2210A>C	c.(2209-2211)aAa>aCa	p.K737T	SLC26A3_uc003ves.2_Missense_Mutation_p.K624T	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	737					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTTTCCATCTTTTTCCTGAGA	0.328000														13			41		0	0	0.00148497	0	0
CD276	80381	broad.mit.edu	37	15	73996076	73996076	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:73996076C>T	uc002avv.1	+	4	1044	c.810C>T	c.(808-810)ttC>ttT	p.F270F	CD276_uc010bjd.1_Silent_p.F124F|CD276_uc002avu.1_Silent_p.F270F|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.F216F	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	270	Ig-like V-type 2.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCTGCTCCTTCTCCCCCGAGC	0.672000														10			23		0	0	0.000720815	0	0
IL18R1	8809	broad.mit.edu	37	2	103001405	103001405	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:103001405G>A	uc002tbw.4	+	6	906	c.756G>A	c.(754-756)ggG>ggA	p.G252G	IL18R1_uc010ywd.2_Silent_p.G97G|IL18R1_uc010fiy.3_Silent_p.G252G|IL18R1_uc010ywc.2_Silent_p.G252G	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	252	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGATGTTCGGGGAAGAAAATG	0.328000														73			64		0	0	0.00361006	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36468529	36468529	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:36468529C>T	uc021wdj.1	+	11	1330	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S	CTNNBL1_uc002xhh.3_Silent_p.S226S|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Silent_p.S161S	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	413					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTGGCTTCCCTCCTGCGGA	0.502000														41			56		0	0	0.00361006	0	0
MAGEC3	139081	broad.mit.edu	37	X	140953310	140953310	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140953310G>A	uc011mwp.2	+	1	177	c.177G>A	c.(175-177)ctG>ctA	p.L59L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	59								p.H58N(1)		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)					TTGGGCATCTGAGGGAGGTGA	0.507000														8			32		0	0	0.000953801	0	0
TTN	7273	broad.mit.edu	37	2	179428361	179428361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179428361C>T	uc021vsy.1	-	274	75019	c.74794G>A	c.(74794-74796)Gaa>Aaa	p.E24932K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18627K|TTN_uc021vta.1_Missense_Mutation_p.E18560K|TTN_uc021vtb.1_Missense_Mutation_p.E18435K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25859	Fibronectin type-III 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E18435K(1)		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)			CCCTCAATTTCGGTACCTCCG	0.478000														110			72		0	0	0.00361006	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969277	22969277	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:22969277C>T	uc003xcy.3	+	1	413	c.105C>T	c.(103-105)ccC>ccT	p.P35P	TNFRSF10C_uc011kzr.2_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	35					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AGGAAGTTCCCCAGCAGACAG	0.532000														15			8		0	0	0.000978159	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100210	9100210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:9100210C>T	uc001apo.3	-	5	902	c.610G>A	c.(610-612)Gcg>Acg	p.A204T	SLC2A5_uc010nzy.2_Missense_Mutation_p.A145T|SLC2A5_uc010nzz.2_Missense_Mutation_p.A89T|SLC2A5_uc010oaa.2_Missense_Mutation_p.A160T	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	204					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGCAGCGCCGCGGGGACC	0.682000														0			3		0	0	6.4e-05	0	0
USP29	57663	broad.mit.edu	37	19	57640713	57640713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57640713C>T	uc002qny.3	+	3	1026	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	USP29_uc021vci.1_Missense_Mutation_p.L224F	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	224					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L224F(2)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGATTTGAAACTCGGGCCTTC	0.363000														46			67		0	0	0.00361006	0	0
PKMYT1	9088	broad.mit.edu	37	16	3023012	3023012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3023012G>A	uc002csn.3	-	8	1951	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	PAQR4_uc002csj.4_3'UTR|PAQR4_uc002csk.4_3'UTR|PAQR4_uc002csl.4_3'UTR|PAQR4_uc010uwm.2_3'UTR|PKMYT1_uc010uwn.2_Non-coding_Transcript|PKMYT1_uc002csm.3_3'UTR|PKMYT1_uc002cso.3_Missense_Mutation_p.P412L|PKMYT1_uc002csq.3_Missense_Mutation_p.P472L	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	Homo sapiens protein kinase, membrane associated tyrosine/threonine 1 (PKMYT1), transcript variant 1, mRNA.	481	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	Golgi membrane|endoplasmic reticulum membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTCAAAGGAGGGGAAGGAGCC	0.562000														19			14		0	0	0.000566183	0	0
USP29	57663	broad.mit.edu	37	19	57641411	57641411	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57641411C>T	uc002qny.3	+	3	1724	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	USP29_uc021vci.1_Silent_p.I456I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	456					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTCTCCATCAACCTGCACC	0.358000														69			102		0	0	0.00361006	0	0
LPP	4026	broad.mit.edu	37	3	188584049	188584050	+	Missense_Mutation	DNP	CC	TT	TT	rs138205223	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:188584049_188584050CC>TT	uc003frs.2	+	8	1718_1719	c.1472_1473CC>TT	c.(1471-1473)acc>aTT	p.T491I	LPP_uc011bsg.2_Missense_Mutation_p.T344I|LPP_uc011bsi.2_Missense_Mutation_p.T491I|LPP_uc011bsj.2_Missense_Mutation_p.T328I	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	491	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.A490V(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTCCGAGCCACCGGGAAGGCCT	0.559000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									62			43		0	0	6.4e-05	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39427956	39427956	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:39427956C>T	uc003awt.4	+	5	1427	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	APOBEC3D_uc010gxu.3_Silent_p.S136S|APOBEC3D_uc003awu.4_Silent_p.S156S	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	340					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					AAGGGGCCTCCGTGAAGATCA	0.612000														46			55		0	0	0.00361006	0	0
DNAH5	1767	broad.mit.edu	37	5	13781030	13781030	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:13781030G>A	uc003jfd.2	-	52	8901	c.8859C>T	c.(8857-8859)ctC>ctT	p.L2953L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2953	AAA 4 (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)					CCCCGACCAGGAGGGCATTTC	0.458000									Kartagener syndrome					5			22		0	0	0.000720815	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37485790	37485790	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37485790G>A	uc003aqt.1	-	6	726	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	TMPRSS6_uc003aqs.1_Nonsense_Mutation_p.Q231*|TMPRSS6_uc003aqu.3_Nonsense_Mutation_p.Q222*	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	231	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGGAGGACCTGGCCCTGGCCC	0.672000														16			18		0	0	0.000958276	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6084289	6084289	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:6084289G>A	uc003spp.3	-	6	780	c.634C>T	c.(634-636)Cta>Tta	p.L212L	EIF2AK1_uc003spq.3_Silent_p.L212L|EIF2AK1_uc011jwm.1_Silent_p.L88L|EIF2AK1_uc003spr.1_Silent_p.L4L	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	212	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ACTTCCCGTAGGACCTAGAAA	0.443000														37			30		0	0	0.00209593	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278102	36278102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36278102C>T	uc002obs.2	+	20	2296	c.2152C>T	c.(2152-2154)Ccc>Tcc	p.P718S	ARHGAP33_uc002obt.2_Missense_Mutation_p.P743S|ARHGAP33_uc002obv.1_Missense_Mutation_p.P467S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	766					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.P718L(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCACCCCCTCCCCTGTCTCT	0.662000														16			24		0	0	0.000878237	0	0
TYK2	7297	broad.mit.edu	37	19	10475409	10475409	+	Silent	SNP	G	A	A	rs138350396	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:10475409G>A	uc002moc.4	-	8	1626	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	TYK2_uc010dxe.3_Silent_p.F231F|TYK2_uc002mod.2_Silent_p.F416F	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	416	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.F416F(2)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCGACACGAAGGACAGCG	0.682000														18			20		0	0	0.00121646	0	0
EPHA4	2043	broad.mit.edu	37	2	222436924	222436924	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:222436924C>T	uc002vmq.3	-	0	87	c.45G>A	c.(43-45)ggG>ggA	p.G15G	EPHA4_uc002vmr.2_Silent_p.G15G|EPHA4_uc010zlm.1_5'UTR|AX747413_uc002vms.1_5'Flank	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	15						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CGTCGCAAATCCCGAAGAGAC	0.572000														36			16		0	0	0.000566183	0	0
LCE1E	353135	broad.mit.edu	37	1	152760030	152760030	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152760030C>T	uc021ozg.1	+	0	255	c.255C>T	c.(253-255)tcC>tcT	p.S85S	LCE1E_uc001fan.3_Silent_p.S85S	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	85	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCACAGGTCCCACCGTCACA	0.697000														55			19		0	0	0.00121646	0	0
ZNF714	148206	broad.mit.edu	37	19	21300638	21300638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:21300638C>T	uc002npo.4	+	4	1546	c.1168C>T	c.(1168-1170)Cat>Tat	p.H390Y	ZNF714_uc002npl.3_Missense_Mutation_p.H236Y|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TAAGATAATTCATACTGGAGA	0.348000														13			13		0	0	0.00185496	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857546	9857546	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:9857546C>T	uc010uym.2	-	13	4165	c.3855G>A	c.(3853-3855)agG>agA	p.R1285R	GRIN2A_uc002czo.4_Silent_p.R1285R|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1285					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1285K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACGGCTAATCCTTAGCTTGT	0.532000														57			22		0	0	0.00278032	0	0
THSD7B	80731	broad.mit.edu	37	2	137917850	137917850	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:137917850C>T	uc002tva.1	+	4	1344	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.I338I	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTGCAATATCCCTTGCTCTA	0.517000														44			27		0	0	0.00127121	0	0
ZNF283	284349	broad.mit.edu	37	19	44352446	44352446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44352446C>T	uc002oxr.4	+	6	1961	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y	ZNF283_uc002oxp.4_Missense_Mutation_p.H426Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCAGAAAATTCATACCGGTGA	0.418000														31			10		0	0	0.000673444	0	0
DROSHA	29102	broad.mit.edu	37	5	31422952	31422952	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:31422952C>A	uc003jhg.2	-	27	3720	c.3361G>T	c.(3361-3363)Gtt>Ttt	p.V1121F	DROSHA_uc003jhh.2_Missense_Mutation_p.V1084F|DROSHA_uc003jhi.2_Missense_Mutation_p.V1084F	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	1121	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGAAGTCGAACATGAGTAAAA	0.388000														2			26		9.04412e-07	2.62221e-06	0.000720815	1	0
OR2F1	26211	broad.mit.edu	37	7	143657981	143657981	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143657981G>A	uc003wds.1	+	0	962	c.918G>A	c.(916-918)tgG>tgA	p.W306*		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W306C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AACTATTATGGAAATTCTCTG	0.433000														20			61		0	0	0.00361006	0	0
RSPO1	284654	broad.mit.edu	37	1	38079995	38079995	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:38079995G>A	uc001cbl.2	-	5	1189	c.297C>T	c.(295-297)atC>atT	p.I99I	RSPO1_uc009vvf.2_Silent_p.I72I|RSPO1_uc001cbm.2_Silent_p.I99I|RSPO1_uc009vvg.2_Silent_p.I99I	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	99					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACAGTGCTCGATCTTGCATT	0.577000														20			46		0	0	0.00361006	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722887	94722887	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:94722887G>A	uc001ycs.1	+	16	2110	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	652						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAATGTGTGTGAGGAAACTCC	0.363000														19			20		0	0	0.00152264	0	0
KANSL1	284058	broad.mit.edu	37	17	44144014	44144014	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:44144014G>A	uc002ikc.3	-	5	2208	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	KANSL1_uc002ikd.3_Silent_p.L579L|KANSL1_uc010dav.3_Silent_p.L579L	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	579						MLL1 complex	protein binding										ATGAAGAGACGAGATTCAGTC	0.517000														29			15		0	0	0.00074312	0	0
MYOM3	127294	broad.mit.edu	37	1	24388451	24388451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:24388451C>T	uc001bin.4	-	32	4082	c.3919G>A	c.(3919-3921)Gat>Aat	p.D1307N	MYOM3_uc001bil.4_Missense_Mutation_p.D200N|MYOM3_uc001bim.4_Missense_Mutation_p.D964N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1307										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCTGAGAGATCTGTTGAGAGC	0.527000														115			33		0	0	0.00375469	0	0
DCC	1630	broad.mit.edu	37	18	50705414	50705414	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:50705414C>T	uc002lfe.2	+	8	2117	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	DCC_uc010xdr.1_Nonsense_Mutation_p.R349*|DCC_uc010dpf.2_Nonsense_Mutation_p.R156*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	501	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTACACCTTTCGAGTTGTGGC	0.507000														22			16		0	0	0.000958276	0	0
NCOA1	8648	broad.mit.edu	37	2	24952581	24952581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:24952581C>T	uc002rfk.3	+	14	3357	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	NCOA1_uc010eye.3_Missense_Mutation_p.S1033L|NCOA1_uc002rfi.3_Missense_Mutation_p.S882L|NCOA1_uc002rfj.3_Missense_Mutation_p.S1033L|NCOA1_uc002rfl.3_Missense_Mutation_p.S1033L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1033									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCTTTTTCACCTGGCATG	0.542000			T	PAX3	alveolar rhadomyosarcoma									94			24		0	0	0.00332997	0	0
XPR1	9213	broad.mit.edu	37	1	180775261	180775261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:180775261C>T	uc001goi.3	+	4	703	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	XPR1_uc009wxm.2_Missense_Mutation_p.R171C|XPR1_uc009wxn.3_Missense_Mutation_p.R171C	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	171	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGAAACATCTCGTGGAGCAGA	0.393000														17			31		0	0	0.001512	0	0
OR51S1	119692	broad.mit.edu	37	11	4869782	4869782	+	Silent	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:4869782C>A	uc010qyo.2	-	0	657	c.657G>T	c.(655-657)ctG>ctT	p.L219L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		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)		AGAAAATAAGCAGGGGGTCCA	0.542000														27			26		0.00047179	0.00136205	0.00332997	1	0
SLC7A14	57709	broad.mit.edu	37	3	170201138	170201138	+	Silent	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:170201138G>T	uc003fgz.2	-	5	1396	c.1080C>A	c.(1078-1080)gtC>gtA	p.V360V	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	360						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGCATAAATGACCCTCGGCA	0.547000											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			32		9.17885e-22	2.69124e-21	0.00327116	1	0
RIMS2	9699	broad.mit.edu	37	8	105257214	105257214	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:105257214G>A	uc003yls.3	+	23	3700	c.3459G>A	c.(3457-3459)agG>agA	p.R1153R	RIMS2_uc003ylp.3_Silent_p.R1135R|RIMS2_uc003ylw.2_Silent_p.R1142R|RIMS2_uc003ylq.3_Silent_p.R949R|RIMS2_uc003ylr.3_Silent_p.R974R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1197					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion 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)			TGGAAATGAGGAACTGGATGA	0.473000										HNSCC(12;0.0054)				86			113		0	0	0.00361006	0	0
FAM46D	169966	broad.mit.edu	37	X	79698131	79698131	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:79698131G>A	uc022bzm.1	+	0	93	c.93G>A	c.(91-93)ggG>ggA	p.G31G	FAM46D_uc004edl.1_Silent_p.G31G|FAM46D_uc004edm.2_Silent_p.G31G	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	31										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ATGGAAAGGGGAATTTCCCCA	0.368000														3			21		0	0	0.00121646	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307251	39307251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:39307251C>T	uc021wwc.1	-	1	886	c.846G>A	c.(844-846)atG>atA	p.M282I	CX3CR1_uc021wwa.1_Missense_Mutation_p.M250I|CX3CR1_uc021wwb.1_Missense_Mutation_p.M250I|CX3CR1_uc003cjl.3_Missense_Mutation_p.M250I|CX3CR1_uc021wwd.1_Missense_Mutation_p.M250I	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	250					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.V281F(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAGGAAAATCATAACGTTGT	0.468000														36			59		0	0	0.00361006	0	0
ARHGAP1	392	broad.mit.edu	37	11	46702650	46702650	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:46702650G>A	uc001ndd.3	-	6	615	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA.	182	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCTTCTGCCCGAACTTGAAGC	0.602000														44			15		0	0	0.000422831	0	0
C22orf29	79680	broad.mit.edu	37	22	19839296	19839297	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:19839296_19839297GG>AA	uc002zqg.3	-	1	1087_1088	c.488_489CC>TT	c.(487-489)ccc>cTT	p.P163L	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.P163L|C22orf29_uc002zqi.3_Missense_Mutation_p.P163L|C22orf29_uc021wli.1_Missense_Mutation_p.P163L	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	163										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CGTCAGGCAGGGGCAGGTCCCC	0.584000														60			35		0	0	6.4e-05	0	0
DCC	1630	broad.mit.edu	37	18	50278697	50278697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:50278697G>A	uc002lfe.2	+	1	981	c.365G>A	c.(364-366)gGa>gAa	p.G122E	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	122	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.G122E(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCATCTTTAGGAGATTCTGGC	0.438000														62			56		0	0	0.00361006	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951458	119951458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:119951458G>A	uc010inb.3	+	3	1724	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	SYNPO2_uc010ina.3_Missense_Mutation_p.E510K|SYNPO2_uc003icm.4_Missense_Mutation_p.E510K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E438K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	510						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCCCAAAAAGAAGAGGACAA	0.522000														13			8		0	0	0.00307968	0	0
ANKK1	255239	broad.mit.edu	37	11	113265676	113265676	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:113265676G>A	uc001pny.3	+	2	600	c.506G>A	c.(505-507)tGg>tAg	p.W169*		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	169	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CTGTCCAAGTGGATGGAACAG	0.567000														2			19		0	0	0.00188189	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230384	155230384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:155230384G>A	uc001fjs.3	-	2	445	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	SCAMP3_uc001fjt.3_Missense_Mutation_p.P45S	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	71					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTTCTCGAGGGCTGCAAGGAG	0.582000														82			35		0	0	0.00148497	0	0
WWC1	23286	broad.mit.edu	37	5	167850869	167850869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:167850869C>T	uc003lzu.3	+	10	1699	c.1606C>T	c.(1606-1608)Cca>Tca	p.P536S	WWC1_uc003lzv.3_Missense_Mutation_p.P536S|WWC1_uc011den.2_Missense_Mutation_p.P536S|WWC1_uc003lzw.3_Missense_Mutation_p.P335S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	536					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCCCTATCCCCACGTTCCTC	0.622000														25			27		0	0	0.000720815	0	0
C15orf2	23742	broad.mit.edu	37	15	24923694	24923694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:24923694G>A	uc001ywo.3	+	0	3154	c.2680G>A	c.(2680-2682)Gga>Aga	p.G894R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	894					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTTAAATACAGGATCCATCTC	0.502000														84			87		0	0	0.00361006	0	0
ITGA4	3676	broad.mit.edu	37	2	182363425	182363425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:182363425G>A	uc002unu.3	+	14	2379	c.1616G>A	c.(1615-1617)gGa>gAa	p.G539E	ITGA4_uc010frj.1_Missense_Mutation_p.G21E	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	539					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TCTTCTAATGGAACTTCTGAC	0.363000														34			43		0	0	0.00321405	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005144	1005144	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:1005144C>T	uc002lqo.1	+	2	1644	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	548					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCAGCCCCTTCTTCTCCACCA	0.672000														38			17		0	0	0.000958276	0	0
COL5A2	1290	broad.mit.edu	37	2	189931166	189931166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:189931166G>A	uc002uqk.3	-	22	1788	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	505					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCACCTCTGGGACCTCTTTTG	0.483000														112			120		0	0	0.00361006	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333949	37333949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37333949G>A	uc003aqa.4	+	13	2316	c.2099G>A	c.(2098-2100)gGg>gAg	p.G700E	CSF2RB_uc003aqc.4_Missense_Mutation_p.G706E	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	700					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)	ATGAGCTCTGGGGACACTGAG	0.617000														49			42		0	0	0.0025221	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536329	130536329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:130536329G>A	uc004bsc.3	-	1	597	c.455C>T	c.(454-456)cCt>cTt	p.P152L	SH2D3C_uc004bsb.3_5'Flank|SH2D3C_uc004bsa.3_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.P96L	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	152					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGGACCTCAGGCTTTCTGAT	0.602000														6			33		0	0	0.00209593	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489581	133489581	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:133489581G>A	uc002ttp.3	-	16	5546	c.5172C>T	c.(5170-5172)acC>acT	p.T1724T	NCKAP5_uc002ttq.3_Silent_p.T405T	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1724							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						GGAGTGGAAAGGTTCCGATCC	0.532000														21			18		0	0	0.00074312	0	0
KIAA0430	9665	broad.mit.edu	37	16	15702213	15702213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:15702213G>A	uc002ddr.3	-	20	4324	c.4117C>T	c.(4117-4119)Cgt>Tgt	p.R1373C	KIAA0430_uc002ddq.3_Missense_Mutation_p.R1207C|KIAA0430_uc010uzv.2_Missense_Mutation_p.R1370C|KIAA0430_uc010uzw.2_Missense_Mutation_p.R1373C	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1372						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCTTGGAGACGAAATGTATAA	0.363000														48			28		0	0	0.001512	0	0
GPR65	8477	broad.mit.edu	37	14	88477762	88477762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:88477762G>A	uc021rxh.1	+	0	571	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	GPR65_uc001xvv.3_Missense_Mutation_p.G191S	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	191					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GACGTGTACAGGCTATGCAAT	0.413000														32			40		0	0	0.00222228	0	0
SFXN3	81855	broad.mit.edu	37	10	102799263	102799263	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:102799263A>G	uc010qpx.2	+	10	1071	c.911A>G	c.(910-912)aAc>aGc	p.N304S	SFXN3_uc001ksp.3_Missense_Mutation_p.N300S	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	Homo sapiens sideroflexin 3 (SFXN3), mRNA.	300					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CACATAAGCAACCTGGAACCA	0.557000														15			68		0	0	0.00361006	0	0
GP9	2815	broad.mit.edu	37	3	128780669	128780669	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:128780669G>A	uc003elm.2	+	2	274	c.87G>A	c.(85-87)ctG>ctA	p.L29L	GP9_uc021xdn.1_Silent_p.L29L	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	29	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GCCGCGCCCTGGAAACCATGG	0.701000														10			9		0	0	0.000442599	0	0
HMCN1	83872	broad.mit.edu	37	1	186022088	186022088	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:186022088C>T	uc001grq.1	+	42	6811	c.6582C>T	c.(6580-6582)ccC>ccT	p.P2194P		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2194					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						TTCTAGTCCCCCCAAATATTG	0.338000														44			48		0	0	0.00361006	0	0
GUCY2C	2984	broad.mit.edu	37	12	14839148	14839148	+	Silent	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:14839148C>A	uc001rcd.3	-	2	479	c.342G>T	c.(340-342)cgG>cgT	p.R114R	GUCY2C_uc009zhz.2_Silent_p.R114R	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	114			R -> Q (in dbSNP:rs56275235).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CACAGCCCATCCGTTGTGCAT	0.438000														6			17		3.41278e-10	9.92463e-10	0.000566183	1	0
PTCH2	8643	broad.mit.edu	37	1	45295150	45295150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:45295150G>A	uc010olf.2	-	8	1151	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	PTCH2_uc021omv.1_Missense_Mutation_p.S380F|PTCH2_uc010olg.2_Missense_Mutation_p.S79F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	380					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGGGTGGTGGAGGAGAAGGC	0.612000									Basal Cell Nevus syndrome					45			93		0	0	0.00361006	0	0
RPA1	6117	broad.mit.edu	37	17	1747224	1747224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:1747224C>T	uc002fto.2	+	2	210	c.95C>T	c.(94-96)cCc>cTc	p.P32L		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	32					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AACATCCGTCCCATTACTACG	0.493000								Nucleotide excision repair (NER)						7			128		0	0	0.00361006	0	0
MGAM	8972	broad.mit.edu	37	7	141754673	141754673	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141754673G>A	uc003vwy.3	+	26	3333	c.3279G>A	c.(3277-3279)ggG>ggA	p.G1093G		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1093	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCCATTTGGGATTGAAATTC	0.493000														107			21		0	0	0.00152264	0	0
C10orf90	118611	broad.mit.edu	37	10	128114453	128114454	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:128114453_128114454GG>AA	uc010qum.2	-	9	2400_2401	c.2370_2371CC>TT	c.(2368-2373)ctcctt>ctTTtt	p.L791F	C10orf90_uc001ljp.3_Missense_Mutation_p.L550F|C10orf90_uc001ljq.3_Missense_Mutation_p.L694F	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	694										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTCCTTTGAAGGAGCTGGTCCA	0.500000														2			17		0	0	6.4e-05	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541351	40541351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:40541351G>A	uc002omu.3	-	4	1480	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	ZNF780B_uc002omv.3_Missense_Mutation_p.P324L	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCAAAGGGTTTCCCACC	0.388000														27			27		0	0	0.00127121	0	0
ABCA4	24	broad.mit.edu	37	1	94476459	94476459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:94476459G>A	uc001dqh.3	-	39	5715	c.5611C>T	c.(5611-5613)Cac>Tac	p.H1871Y	ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Missense_Mutation_p.H139Y	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1871					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGTCCCAGTGGAACGGATTT	0.597000														30			43		0	0	0.00361006	0	0
MUC17	140453	broad.mit.edu	37	7	100676940	100676940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100676940C>T	uc003uxp.1	+	2	2296	c.2243C>T	c.(2242-2244)cCa>cTa	p.P748L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	748	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GGAAGCACTCCATTAACAAGT	0.488000														337			85		0	0	0.00361006	0	0
MINK1	50488	broad.mit.edu	37	17	4789758	4789758	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:4789758C>T	uc010vsl.2	+	9	1030	c.786C>T	c.(784-786)ttC>ttT	p.F262F	MINK1_uc010vsk.2_Silent_p.F262F|MINK1_uc010vsm.2_Silent_p.F262F|MINK1_uc010vsn.2_Silent_p.F262F|MINK1_uc010vso.2_Silent_p.F207F|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	262	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTAAGAAGTTCATTGACTTCA	0.552000														12			330		0	0	0.00361006	0	0
TAP2	6891	broad.mit.edu	37	6	32805777	32805777	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32805777G>A	uc011dqf.1	-	1	356	c.234C>T	c.(232-234)tcC>tcT	p.S78S	TAP2_uc003ocb.1_Silent_p.S78S|TAP2_uc003occ.3_Silent_p.S78S|TAP2_uc003ocd.3_Silent_p.S78S	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	78					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GGGCTCTCAGGGAGACAGTCA	0.687000														32			22		0	0	0.00332997	0	0
ART1	417	broad.mit.edu	37	11	3685408	3685408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:3685408G>A	uc001lye.1	+	4	1074	c.973G>A	c.(973-975)Ggc>Agc	p.G325S		NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	325					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGATGGTCCAGGCCTCCTTTG	0.577000														56			41		0	0	0.00361006	0	0
DPP4	1803	broad.mit.edu	37	2	162865131	162865131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:162865131C>T	uc002ubz.3	-	21	2489	c.1928G>A	c.(1927-1929)gGa>gAa	p.G643E	DPP4_uc010fpb.3_Missense_Mutation_p.G319E	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	643					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.S642S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CACGCCACTTCCCGATCCCAG	0.463000														60			50		0	0	0.00361006	0	0
SI	6476	broad.mit.edu	37	3	164724636	164724636	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:164724636G>A	uc003fei.3	-	36	4437	c.4374C>T	c.(4372-4374)ctC>ctT	p.L1458L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1458	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCATCCATAGAGATTGTGAA	0.348000										HNSCC(35;0.089)				27			26		0	0	0.000878237	0	0
SPTA1	6708	broad.mit.edu	37	1	158607858	158607858	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158607858G>A	uc001fst.1	-	35	5353	c.5154C>T	c.(5152-5154)ttC>ttT	p.F1718F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1718					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCCTGGAAGAACTGGAACA	0.413000														86			32		0	0	0.00327116	0	0
ZNF257	113835	broad.mit.edu	37	19	22271622	22271622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:22271622C>T	uc010ecx.3	+	3	1239	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	ZNF257_uc010ecy.3_Missense_Mutation_p.S325L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCGGTCTTCACACCTTACT	0.408000														14			25		0	0	0.00332997	0	0
FNDC3B	64778	broad.mit.edu	37	3	172016555	172016555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:172016555C>T	uc003fhy.3	+	8	1211	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	FNDC3B_uc003fhz.4_Missense_Mutation_p.P347S|FNDC3B_uc003fia.3_Missense_Mutation_p.P278S	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	347	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGATCTTAGACCAGCAACAGA	0.358000														81			37		0	0	0.00222228	0	0
C1orf168	199920	broad.mit.edu	37	1	57219538	57219538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:57219538C>T	uc001cym.4	-	7	1607	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	401										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAATATGGTTCCTTTTCTGTG	0.353000														23			30		0	0	0.00209593	0	0
MTUS2	23281	broad.mit.edu	37	13	29599316	29599316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:29599316G>A	uc001usl.4	+	0	569	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	161						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTCCCAAGGATAAACTGGC	0.517000														58			25		0	0	0.00106085	0	0
TSIX	9383	broad.mit.edu	37	X	73046552	73046552	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:73046552C>T	uc004ebn.2	+	0		c.34513C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTCCAGATTCCGGCCGTTAGT	0.507000														8			49		0	0	0.00361006	0	0
ARAP3	64411	broad.mit.edu	37	5	141033693	141033693	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:141033693G>A	uc003llm.3	-	32	4537	c.4459C>T	c.(4459-4461)Cag>Tag	p.Q1487*	ARAP3_uc003lll.3_Nonsense_Mutation_p.Q438*|ARAP3_uc011dbe.2_Nonsense_Mutation_p.Q1136*|ARAP3_uc003lln.3_Nonsense_Mutation_p.Q1318*	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1487	Pro-rich.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGAGCTCCTGGAGCAGCTGT	0.657000														47			16		0	0	0.000566183	0	0
FPR2	2358	broad.mit.edu	37	19	52272199	52272199	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52272199C>T	uc002pxr.3	+	1	333	c.288C>T	c.(286-288)ttC>ttT	p.F96F	FPR2_uc002pxs.4_Silent_p.F96F|FPR2_uc010epf.3_Silent_p.F96F|FPR2_uc021uyp.1_Silent_p.F96F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	96					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.W95S(1)|p.W95C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTGGCTGGTTCCTGTGTAAGT	0.478000														129			30		0	0	0.00327116	0	0
AQR	9716	broad.mit.edu	37	15	35202380	35202380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:35202380G>A	uc001ziv.3	-	16	1800	c.1619C>T	c.(1618-1620)aCc>aTc	p.T540I		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	540						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GAGATTTATGGTAACATCTGC	0.438000														84			62		0	0	0.00361006	0	0
FAM135B	51059	broad.mit.edu	37	8	139380153	139380153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139380153C>T	uc003yuy.3	-	1	245	c.74G>A	c.(73-75)aGa>aAa	p.R25K	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	25								p.R25T(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACTTACCCTCTCTGAAAGAG	0.388000										HNSCC(54;0.14)				74			25		0	0	0.00395357	0	0
LYZL2	119180	broad.mit.edu	37	10	30901757	30901757	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:30901757T>A	uc001ivk.3	-	3	522	c.509A>T	c.(508-510)aAc>aTc	p.N170I		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	Homo sapiens lysozyme-like 2 (LYZL2), mRNA.	124					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.N170Y(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TTACCAATAGTTCATTCCTTG	0.423000														38			12		0	0	0.00185496	0	0
OTOGL	283310	broad.mit.edu	37	12	80717528	80717528	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:80717528G>A	uc001szd.3	+	33	4086	c.4080G>A	c.(4078-4080)agG>agA	p.R1360R		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGCCTTACAGGAAGATGTGTG	0.368000														22			27		0	0	0.00106085	0	0
PDAP1	11333	broad.mit.edu	37	7	98995509	98995509	+	Silent	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:98995509G>T	uc003uqe.3	-	4	597	c.463C>A	c.(463-465)Cgg>Agg	p.R155R		NM_014891	NP_055706	Q13442	HAP28_HUMAN	Homo sapiens PDGFA associated protein 1 (PDAP1), mRNA.	155					cell proliferation|signal transduction			p.R155Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TCCTTCTTCCGGGCAGCCTCC	0.607000														107			7		0.00307968	0.00884575	0.00307968	1	0
KDM3B	51780	broad.mit.edu	37	5	137727415	137727415	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:137727415C>T	uc003lcy.1	+	7	2294	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	KDM3B_uc010jew.1_Silent_p.S354S|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	698	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAACTGACTCCTCCAAGCTAG	0.582000														22			32		0	0	0.00178596	0	0
IPO13	9670	broad.mit.edu	37	1	44415498	44415498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:44415498C>T	uc001ckx.3	+	1	1289	c.494C>T	c.(493-495)gCc>gTc	p.A165V		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	165					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CGCTGCCTAGCCCTGTTAGAG	0.612000														10			20		0	0	0.00152264	0	0
ATP1B4	23439	broad.mit.edu	37	X	119513344	119513344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:119513344C>T	uc004esr.3	+	7	1013	c.929C>T	c.(928-930)cCc>cTc	p.P310L	ATP1B4_uc004esq.3_Missense_Mutation_p.P306L|ATP1B4_uc011mtx.2_Missense_Mutation_p.P275L|ATP1B4_uc011mty.2_Missense_Mutation_p.P267L	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	310					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TACACATCCCCCTTGGTGGCA	0.473000														5			36		0	0	0.00148497	0	0
OR5T3	390154	broad.mit.edu	37	11	56020467	56020467	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56020467G>A	uc010rjd.2	+	0	792	c.792G>A	c.(790-792)agG>agA	p.R264R		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G263R(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CTAAGGGAAGGCAAAAGGCCT	0.413000														93			75		0	0	0.00361006	0	0
C14orf177	283598	broad.mit.edu	37	14	99183513	99183513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:99183513C>T	uc001yfz.2	+	3	699	c.280C>T	c.(280-282)Cac>Tac	p.H94Y		NM_182560	NP_872366	Q52M58	CN177_HUMAN	Homo sapiens chromosome 14 open reading frame 177 (C14orf177), mRNA.	94										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GTCATGTAATCACCAAATAAT	0.423000														28			39		0	0	0.00170553	0	0
MKRN2	23609	broad.mit.edu	37	3	12616298	12616298	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:12616298T>A	uc003bxd.3	+	4	706	c.650T>A	c.(649-651)aTg>aAg	p.M217K	MKRN2_uc011aus.2_Missense_Mutation_p.M174K	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	217	Makorin-type Cys-His.					intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CAGATCTGCATGTTGACGTTC	0.547000														39			46		0	0	0.00361006	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907160	29907160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:29907160G>A	uc010vec.2	-	3	778	c.533C>T	c.(532-534)tCc>tTc	p.S178F	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.S108F|SEZ6L2_uc002dur.4_Missense_Mutation_p.S108F|SEZ6L2_uc002duq.4_Missense_Mutation_p.S178F|SEZ6L2_uc010ved.2_Missense_Mutation_p.S134F|SEZ6L2_uc002dus.4_Intron	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	178	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.S178S(1)		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						TTCGCCCTCGGAGATGTTGTT	0.562000														27			36		0	0	0.0025221	0	0
NFRKB	4798	broad.mit.edu	37	11	129734737	129734737	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:129734737G>A	uc001qfg.3	-	24	3979	c.3858C>T	c.(3856-3858)atC>atT	p.I1286I	NFRKB_uc001qfi.3_Silent_p.I1261I|NFRKB_uc001qfh.3_Silent_p.I1284I|NFRKB_uc009zcr.3_Silent_p.I547I	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1261					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGACAGTCTGGATGCGCACCT	0.532000														9			48		0	0	0.00361006	0	0
AMPH	273	broad.mit.edu	37	7	38433665	38433665	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:38433665G>A	uc003tgu.3	-	17	1764	c.1548C>T	c.(1546-1548)acC>acT	p.T516T	AMPH_uc003tgv.3_Silent_p.T474T|AMPH_uc003tgt.3_Silent_p.T401T|AMPH_uc003tgw.1_Silent_p.T539T|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	516					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CACCCTCAGTGGTTTCAGTTC	0.602000														85			64		0	0	0.00361006	0	0
SCRN1	9805	broad.mit.edu	37	7	29966239	29966239	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:29966239G>T	uc011kaa.2	-	6	1024	c.975C>A	c.(973-975)ttC>ttA	p.F325L	SCRN1_uc011jzy.2_Missense_Mutation_p.F237L|SCRN1_uc003tak.3_Missense_Mutation_p.F305L|SCRN1_uc011jzz.2_Missense_Mutation_p.F305L|SCRN1_uc011jzw.2_Missense_Mutation_p.F172L|SCRN1_uc010kvp.3_Missense_Mutation_p.F305L|SCRN1_uc011jzx.2_Missense_Mutation_p.F128L	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	305					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGAAAGGCTTGAATATGGACC	0.512000														34			27		4.22769e-11	1.23103e-10	0.00106085	1	0
IPO7	10527	broad.mit.edu	37	11	9459706	9459706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:9459706G>A	uc001mho.3	+	21	2711	c.2569G>A	c.(2569-2571)Gtt>Att	p.V857I		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	857					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTAAATCAGGTTTCTGGACA	0.363000														73			67		0	0	0.00361006	0	0
CFH	3075	broad.mit.edu	37	1	196694353	196694353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:196694353G>A	uc001gtj.4	+	11	2039	c.1799G>A	c.(1798-1800)gGa>gAa	p.G600E	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	600	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGCAAACCAGGATTTACAATA	0.398000														19			35		0	0	0.00327116	0	0
KRT6C	286887	broad.mit.edu	37	12	52867508	52867508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52867508G>A	uc001sal.4	-	0	62	c.14C>T	c.(13-15)tCc>tTc	p.S5F		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	5	Head.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GATGGTGGTGGATGTGCTGGC	0.642000														23			16		0	0	0.000720815	0	0
CYFIP1	23191	broad.mit.edu	37	15	22945107	22945107	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:22945107T>A	uc001yus.3	+	11	1282	c.1178T>A	c.(1177-1179)cTg>cAg	p.L393Q	CYFIP1_uc001yut.3_Missense_Mutation_p.L393Q|CYFIP1_uc010aya.1_Missense_Mutation_p.L421Q	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	393					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTCTTCGACCTGGCGCTGCAG	0.701000														9			10		0	0	0.000673444	0	0
ARRDC4	91947	broad.mit.edu	37	15	98512549	98512549	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:98512549C>T	uc010bom.3	+	4	981	c.822C>T	c.(820-822)atC>atT	p.I274I	ARRDC4_uc002bui.4_Silent_p.I187I	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	274					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CGCTAAAAATCCCACCTGTTA	0.433000														24			37		0	0	0.00128727	0	0
SHC3	53358	broad.mit.edu	37	9	91666967	91666967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:91666967G>A	uc004aqf.2	-	6	1254	c.947C>T	c.(946-948)cCc>cTc	p.P316L		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	316	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						ATGGAGAGCGGGAATCTTGGT	0.488000														8			51		0	0	0.00361006	0	0
AGPAT6	137964	broad.mit.edu	37	8	41470463	41470463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:41470463C>T	uc003xnz.2	+	7	1834	c.895C>T	c.(895-897)Cac>Tac	p.H299Y		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	299					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GAAGGATCGCCACCTGGTGGC	0.542000											OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			7		0	0	0.000274275	0	0
NAGA	4668	broad.mit.edu	37	22	42463911	42463912	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:42463911_42463912CG>AT	uc003bbw.4	-	2	726_727	c.181_182CG>AT	c.(181-183)cgg>ATg	p.R61M		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	61					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CTGTGCCATCCGGTCAGCCATC	0.614000														259			10		0	0	6.4e-05	0	0
MYOM3	127294	broad.mit.edu	37	1	24426247	24426247	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:24426247C>T	uc001bin.4	-	5	742	c.579G>A	c.(577-579)cgG>cgA	p.R193R	MYOM3_uc001bio.3_Silent_p.R193R|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	193	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGGGATCAATCCGTGTGTCAT	0.567000														50			14		0	0	0.00074312	0	0
MCAM	4162	broad.mit.edu	37	11	119181572	119181572	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:119181572C>G	uc001pwf.3	-	13	1716	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L	MCAM_uc001pwg.1_Non-coding_Transcript	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	563					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATCACAGCCACGATGACCACG	0.617000														70			24		0	0	0.000720815	0	0
OR10H1	26539	broad.mit.edu	37	19	15918208	15918208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:15918208G>A	uc002nbq.2	-	0	729	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L214F(2)|p.L214L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGAGGATGAGGAGAAAACAG	0.577000														40			17		0	0	0.000720815	0	0
PCNX	22990	broad.mit.edu	37	14	71435813	71435813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:71435813G>A	uc001xmo.2	+	4	1036	c.590G>A	c.(589-591)gGa>gAa	p.G197E	PCNX_uc001xmn.4_Missense_Mutation_p.G197E|PCNX_uc010are.1_Missense_Mutation_p.G197E	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	197						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)		TGTAAGGAAGGAAGTGAAGAA	0.368000														84			99		0	0	0.00361006	0	0
LINGO4	339398	broad.mit.edu	37	1	151773936	151773936	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:151773936G>A	uc001ezf.1	-	1	1435	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	LINGO4_uc021oyu.1_Silent_p.I415I	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	415	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGACTTTCGGATCAGGGCTG	0.612000														30			44		0	0	0.00361006	0	0
CELSR2	1952	broad.mit.edu	37	1	109810212	109810212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:109810212C>T	uc001dxa.4	+	15	6117	c.6056C>T	c.(6055-6057)cCc>cTc	p.P2019L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2019					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGTGGCTCCCCCCAAACCTC	0.587000														341			83		0	0	0.00361006	0	0
OR4B1	119765	broad.mit.edu	37	11	48239290	48239290	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48239290G>A	uc010rhs.2	+	1	930	c.930_splice	c.e1+1	p.*310_splice		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*310*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGAGGGAGTGAAAAAAGAGC	0.398000														11			18		0	0	0.000958276	0	0
BDP1	55814	broad.mit.edu	37	5	70837355	70837355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:70837355C>T	uc003kbp.1	+	28	6360	c.6097C>T	c.(6097-6099)Cac>Tac	p.H2033Y	BDP1_uc003kbo.3_Missense_Mutation_p.H2033Y|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2033					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAATGTAAATCACAAAATTGT	0.313000														126			74		0	0	0.00361006	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263148	140263148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140263148C>T	uc003lif.2	+	0	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.S432L|PCDHAC2_uc003lid.3_Missense_Mutation_p.S432L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.652000														65			57		0	0	0.00361006	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253821	32253821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:32253821C>T	uc002yov.3	-	0	54	c.23G>A	c.(22-24)aGa>aAa	p.R8K		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	8						keratin filament	structural molecule activity	p.R8I(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGAGCAATTTCTTGTGGAGCA	0.532000														78			52		0	0	0.00361006	0	0
TECTA	7007	broad.mit.edu	37	11	121008598	121008598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:121008598C>T	uc010rzo.2	+	9	3410	c.3410C>T	c.(3409-3411)tCt>tTt	p.S1137F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1137	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGCTCAGACTCTTTCCCCAAG	0.567000														1			22		0	0	0.00229938	0	0
SLC52A3	113278	broad.mit.edu	37	20	746275	746275	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:746275G>A	uc002wed.4	-	1	483	c.144C>T	c.(142-144)atC>atT	p.I48I	SLC52A3_uc002wee.2_Silent_p.I48I	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	48					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										TGGCCAGCTGGATGACCACCG	0.647000														10			11		0	0	0.000978159	0	0
KRT2	3849	broad.mit.edu	37	12	53038892	53038892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:53038892C>T	uc001sat.3	-	8	1864	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	611	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GAGCCATATCCTCCTCCAGAG	0.542000														79			27		0	0	0.000720815	0	0
NFATC1	4772	broad.mit.edu	37	18	77170711	77170711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:77170711C>T	uc010xfg.2	+	1	889	c.436C>T	c.(436-438)Cct>Tct	p.P146S	NFATC1_uc002lnc.1_Missense_Mutation_p.P146S|NFATC1_uc010xff.1_Missense_Mutation_p.P146S|NFATC1_uc002lnd.3_Missense_Mutation_p.P146S|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.P146S|NFATC1_uc010xfi.1_Missense_Mutation_p.P133S|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.P133S|NFATC1_uc002lng.3_Missense_Mutation_p.P133S|NFATC1_uc010xfk.2_Missense_Mutation_p.P133S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	146	Trans-activation domain A (TAD-A).				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)		AGACGTCCTCCCTAGCTCCAA	0.622000														18			23		0	0	0.00395357	0	0
HEATR8	374977	broad.mit.edu	37	1	55158216	55158216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:55158216G>A	uc010ooe.1	+	15	3155	c.2831G>A	c.(2830-2832)gGa>gAa	p.G944E	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G512E|HEATR8_uc010ood.1_Missense_Mutation_p.G462E|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G944E|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.G146E|HEATR8_uc001cxu.3_Missense_Mutation_p.G90E	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	944						integral to membrane	binding	p.R943R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACCACCGCGGAGTGGCCTTG	0.612000														34			16		0	0	0.000422831	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018188	1018188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:1018188G>A	uc003gce.3	+	5	969	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	FGFRL1_uc003gcf.3_Missense_Mutation_p.V270M|FGFRL1_uc003gcg.3_Missense_Mutation_p.V270M|FGFRL1_uc010ibo.3_Missense_Mutation_p.V270M	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	270	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAGTGCAAGGTGCGCAGCGA	0.662000														35			17		0	0	0.00152264	0	0
MTOR	2475	broad.mit.edu	37	1	11190630	11190630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:11190630C>T	uc001asd.3	-	38	5690	c.5569G>A	c.(5569-5571)Gag>Aag	p.E1857K	MTOR_uc001asc.3_Missense_Mutation_p.E62K	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1857	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGGCTGTTCTCGGTGCTCTCG	0.612000														7			59		0	0	0.00361006	0	0
ZNF711	7552	broad.mit.edu	37	X	84526691	84526691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:84526691G>A	uc004eeq.3	+	9	3167	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	ZNF711_uc004eep.3_Missense_Mutation_p.D715N|ZNF711_uc004eeo.3_Missense_Mutation_p.D715N|ZNF711_uc011mqy.1_Missense_Mutation_p.D314N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	715					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGCACTACAGATGCATCTGG	0.378000														3			25		0	0	0.00395357	0	0
TG	7038	broad.mit.edu	37	8	134042158	134042158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:134042158C>T	uc003ytw.3	+	40	7170	c.7129C>T	c.(7129-7131)Cct>Tct	p.P2377S	TG_uc010mdw.3_Missense_Mutation_p.P1136S|TG_uc011ljb.2_Missense_Mutation_p.P746S|TG_uc011ljc.2_Missense_Mutation_p.P510S	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2377					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)		TGGCGGGGACCCTCGGCGCGT	0.662000														44			17		0	0	0.00074312	0	0
CLK1	1195	broad.mit.edu	37	2	201718127	201718127	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201718127G>T	uc002uwe.2	-	12	1538	c.1357C>A	c.(1357-1359)Ctc>Atc	p.L453I	CLK1_uc010zhi.1_Missense_Mutation_p.L495I|CLK1_uc002uwf.2_Missense_Mutation_p.L227I|CLK1_uc002uwg.2_Missense_Mutation_p.L302I	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	453	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCTGAATGAGGTCAAAGAGA	0.363000														45			54		4.6707e-30	1.37183e-29	0.00361006	1	0
SCN4A	6329	broad.mit.edu	37	17	62018802	62018802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:62018802C>T	uc002jds.1	-	23	4917	c.4840G>A	c.(4840-4842)Gaa>Aaa	p.E1614K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1614					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGTCATCTTCACCAAGGGGC	0.532000														21			29		0	0	0.00106085	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716388	13716388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:13716388C>T	uc001rbt.2	-	12	3963	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1262					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.Q1261*(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTCCAGTTCCTGCAGGGAG	0.597000														44			15		0	0	0.00316338	0	0
TRANK1	9881	broad.mit.edu	37	3	36872628	36872628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:36872628C>T	uc003cgj.3	-	20	8562	c.8314G>A	c.(8314-8316)Gag>Aag	p.E2772K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2772					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E2215*(1)|p.E2772*(1)|p.E2222*(1)		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						TCGTAAGACTCGCTGTTCCTC	0.547000														85			32		0	0	0.00111076	0	0
LPCAT4	254531	broad.mit.edu	37	15	34651861	34651861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34651861G>A	uc001zig.3	-	12	1422	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	443					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						AGGGTGGGGTGAACCCAGCAG	0.602000														29			21		0	0	0.00121646	0	0
CABP1	9478	broad.mit.edu	37	12	121098548	121098548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121098548G>A	uc001tyu.3	+	3	911	c.844G>A	c.(844-846)Gat>Aat	p.D282N	CABP1_uc001tyv.3_Missense_Mutation_p.D139N|CABP1_uc001tyw.3_Missense_Mutation_p.D79N|CABP1_uc001tyx.3_Missense_Mutation_p.D124N	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA.	282	EF-hand 2.					Golgi apparatus|cell cortex|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGCCATGTAGATTTTGATGA	0.502000														240			84		0	0	0.00361006	0	0
ZNF701	55762	broad.mit.edu	37	19	53085749	53085749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53085749C>T	uc010ydn.2	+	4	698	c.635C>T	c.(634-636)tCg>tTg	p.S212L	ZNF701_uc002pzs.2_Missense_Mutation_p.S146L|ZNF701_uc021uyw.1_Missense_Mutation_p.S212L	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGCTTTCATTCGCATCTGCCT	0.408000														122			24		0	0	0.00106085	0	0
IK	3550	broad.mit.edu	37	5	140035472	140035472	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140035472C>T	uc003lgq.3	+	8	806	c.696C>T	c.(694-696)ttC>ttT	p.F232F	IK_uc011czk.1_Silent_p.F232F|IK_uc021yen.1_Silent_p.F173F	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	232					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGTTGTTCCTGCCGGGCC	0.502000														10			9		0	0	0.000673444	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678723	3678724	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3678723_3678724CC>TT	uc002wja.3	-	7	1843_1844	c.1843_1844GG>AA	c.(1843-1845)ggg>AAg	p.G615K	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G615K	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	615	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCGTCCAGCCCCGGCCCCAGCG	0.653000														10			8		0	0	6.4e-05	0	0
TNK1	8711	broad.mit.edu	37	17	7287889	7287889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7287889C>T	uc002ggi.4	+	6	1185	c.953C>T	c.(952-954)tCc>tTc	p.S318F	TNK1_uc002ggj.4_Missense_Mutation_p.S318F|TNK1_uc010cmf.3_Non-coding_Transcript	NM_001251902	NP_001238831	Q13470	TNK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA.	318	Protein kinase.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GAGATGTTCTCCGGGGGCGAG	0.682000														2			19		0	0	0.00188189	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585174	70585174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:70585174G>A	uc003xyl.3	-	9	3184	c.2477C>T	c.(2476-2478)cCa>cTa	p.P826L	SLCO5A1_uc010lzb.3_Missense_Mutation_p.P771L|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	826						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)			TATTGCTTCTGGGAAGGGCCC	0.562000														54			45		0	0	0.00361006	0	0
PLCH2	9651	broad.mit.edu	37	1	2421304	2421304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:2421304G>A	uc001aji.1	+	9	1784	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	PLCH2_uc010nyz.2_Missense_Mutation_p.D293N|PLCH2_uc009vle.1_Missense_Mutation_p.D293N|PLCH2_uc001ajj.1_Missense_Mutation_p.D293N|PLCH2_uc001ajk.1_Missense_Mutation_p.D293N	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	505					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCTCAATGGGGATGTGAGTCG	0.592000														26			50		0	0	0.00361006	0	0
PAQR5	54852	broad.mit.edu	37	15	69695940	69695940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:69695940C>T	uc002arz.2	+	8	1150	c.772C>T	c.(772-774)Cac>Tac	p.H258Y	PAQR5_uc002asa.2_Missense_Mutation_p.H258Y	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.	258					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCAGCTGTTTCACGTGTGTGT	0.493000														26			32		0	0	0.000953801	0	0
KIFC1	3833	broad.mit.edu	37	6	33372875	33372875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:33372875C>T	uc003oef.4	+	6	1453	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S	KIFC1_uc011drf.2_Missense_Mutation_p.P327S	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	335	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCTCCTGTTTCCCTCTGGCCC	0.677000														72			54		0	0	0.00361006	0	0
INPPL1	3636	broad.mit.edu	37	11	71948326	71948326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:71948326C>T	uc001osf.3	+	25	3185	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I	INPPL1_uc001osg.3_Missense_Mutation_p.T771I	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	1013	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCATCTGCCACCAAGAACAAA	0.627000														91			40		0	0	0.00195071	0	0
SPATA13	221178	broad.mit.edu	37	13	24874551	24874551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:24874551C>T	uc001upd.2	+	13	4174	c.3596C>T	c.(3595-3597)tCa>tTa	p.S1199L	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Missense_Mutation_p.S1199L|SPATA13_uc001upg.2_Missense_Mutation_p.S574L|SPATA13_uc010tcy.1_Missense_Mutation_p.S520L|SPATA13_uc010tcz.2_Missense_Mutation_p.S458L|SPATA13_uc010tdb.2_Missense_Mutation_p.S434L|SPATA13_uc010tda.2_Missense_Mutation_p.S518L|SPATA13_uc001uph.3_Missense_Mutation_p.S496L|SPATA13_uc009zzz.2_Silent_p.F131F|SPATA13_uc001upi.1_Missense_Mutation_p.S80L	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	574					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATGGAAATTTCAGAAAACCAG	0.368000														22			15		0	0	0.00121646	0	0
COL13A1	1305	broad.mit.edu	37	10	71707091	71707091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:71707091G>A	uc001jql.3	+	36	2554	c.2018G>A	c.(2017-2019)gGa>gAa	p.G673E	COL13A1_uc021prz.1_Missense_Mutation_p.G624E|COL13A1_uc021psa.1_Missense_Mutation_p.G601E|COL13A1_uc021psb.1_Missense_Mutation_p.G595E|COL13A1_uc001jqk.2_Missense_Mutation_p.G651E|COL13A1_uc021psc.1_Missense_Mutation_p.G642E|COL13A1_uc021psd.1_Missense_Mutation_p.G624E|COL13A1_uc010qjf.2_Missense_Mutation_p.G601E|COL13A1_uc021pse.1_Missense_Mutation_p.G595E|COL13A1_uc021psf.1_Missense_Mutation_p.G673E|COL13A1_uc021psg.1_Missense_Mutation_p.G651E|COL13A1_uc021psh.1_Missense_Mutation_p.G642E	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	673	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGGGACAAGGGAAACCGGGTG	0.517000														2			13		0	0	0.000422831	0	0
PROX2	283571	broad.mit.edu	37	14	75329637	75329637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:75329637C>T	uc021rwo.1	-	0	901	c.901G>A	c.(901-903)Gga>Aga	p.G301R	PROX2_uc001xqp.2_Missense_Mutation_p.G301R|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	301					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GATAAATTTCCTACTGGGACC	0.552000														37			59		0	0	0.00361006	0	0
SIN3A	25942	broad.mit.edu	37	15	75692436	75692436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:75692436G>A	uc002bai.3	-	11	2058	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	SIN3A_uc002baj.3_Missense_Mutation_p.S600F|SIN3A_uc010uml.2_Missense_Mutation_p.S600F	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	600	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGTCTTCTTGGAACTCACAAA	0.413000														31			48		0	0	0.00321405	0	0
EGFR	1956	broad.mit.edu	37	7	55266528	55266528	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:55266528C>T	uc003tqk.3	+	22	3066	c.2820C>T	c.(2818-2820)acC>acT	p.T940T	EGFR_uc022adm.1_Silent_p.T940T|EGFR_uc010kzg.2_Silent_p.T895T|EGFR_uc022adn.1_Silent_p.T895T|EGFR_uc011kco.2_Silent_p.T887T	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	940	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCATATGTACCATCGATGTCT	0.537000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				31			31		0	0	0.00209593	0	0
CPA5	93979	broad.mit.edu	37	7	129987662	129987662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:129987662G>A	uc010lmd.1	+	4	792	c.172G>A	c.(172-174)Gat>Aat	p.D58N	CPA5_uc003vps.2_Missense_Mutation_p.D58N|CPA5_uc003vpt.2_Missense_Mutation_p.D58N|CPA5_uc010lme.1_Missense_Mutation_p.D58N|CPA5_uc003vpu.1_Missense_Mutation_p.D58N	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	58					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ACTTCTCGGGGATCTGGAGGG	0.577000														38			9		0	0	0.00136819	0	0
COX6B1	1340	broad.mit.edu	37	19	36142191	36142191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36142191C>T	uc002oav.3	+	1	238	c.46C>T	c.(46-48)Cct>Tct	p.P16S		NM_001863	NP_001854	P14854	CX6B1_HUMAN	Homo sapiens cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) (COX6B1), nuclear gene encoding mitochondrial protein, mRNA.	16					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAAGACCGCCCCTTTTGACAG	0.572000														26			12		0	0	0.00316338	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787254	121787254	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:121787254G>A	uc003ksw.1	+	9	2918	c.2712G>A	c.(2710-2712)aaG>aaA	p.K904K	SNCAIP_uc011cwl.1_Silent_p.K462K|SNCAIP_uc003ksy.1_Silent_p.K538K|SNCAIP_uc003ksx.1_Silent_p.K951K|SNCAIP_uc003ksz.1_Silent_p.K538K|SNCAIP_uc010jcu.2_Silent_p.K500K|SNCAIP_uc011cwm.1_Silent_p.K538K|SNCAIP_uc003kta.1_Silent_p.K536K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.K598K|SNCAIP_uc010jcx.1_Silent_p.K844K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.K420K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	904					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)		CAGATGCCAAGGGAAACCCTG	0.423000														45			44		0	0	0.00361006	0	0
OR4C3	256144	broad.mit.edu	37	11	48346564	48346564	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48346564C>T	uc010rhv.2	+	0	72	c.72C>T	c.(70-72)acC>acT	p.T24T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCTCAGTGACCTTGGAATCTA	0.393000														76			41		0	0	0.00170553	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093053	30093053	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:30093053C>T	uc010dmc.3	+	0		c.1428C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TGAACCTTCCCCCTGGACCAC	0.577000														5			8		0	0	0.00307968	0	0
ITGB7	3695	broad.mit.edu	37	12	53594063	53594063	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:53594063G>A	uc009zmv.3	-	1	236	c.165C>T	c.(163-165)atC>atT	p.I55I	ITGB7_uc001scc.3_Silent_p.I55I|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_Silent_p.I55I	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	55					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGTGAGAGGATGCACTTCT	0.542000														57			12		0	0	0.000978159	0	0
DBH	1621	broad.mit.edu	37	9	136505099	136505099	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:136505099G>A	uc004cel.3	+	1	480	c.471G>A	c.(469-471)aaG>aaA	p.K157K		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	157	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCGACCCCAAGGATTACCTCA	0.587000														2			17		0	0	0.00152264	0	0
FRG1	2483	broad.mit.edu	37	4	190876192	190876192	+	Splice_Site	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:190876192A>C	uc003izs.3	+	5	509	c.318_splice	c.e5-1	p.R106_splice		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	106					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TAATGTACAGAATCGCCCTGA	0.373000														18			3		0	0	0.00136819	0	0
DCP2	167227	broad.mit.edu	37	5	112339742	112339742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:112339742C>T	uc003kqh.3	+	7	1134	c.910C>T	c.(910-912)Cat>Tat	p.H304Y	DCP2_uc010jcc.3_Missense_Mutation_p.H304Y|DCP2_uc011cwa.2_Missense_Mutation_p.H93Y	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	Homo sapiens DCP2 decapping enzyme homolog (S. cerevisiae) (DCP2), transcript variant 1, mRNA.	304					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|nucleus	RNA binding|exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ATATAATAATCATTCTGAAAT	0.388000														27			12		0	0	0.00185496	0	0
C6orf10	10665	broad.mit.edu	37	6	32261633	32261633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32261633C>T	uc021yvt.1	-	22	990	c.817G>A	c.(817-819)Gag>Aag	p.E273K	C6orf10_uc011dpx.2_Missense_Mutation_p.E264K|C6orf10_uc021yvs.1_Missense_Mutation_p.E190K|C6orf10_uc011dpz.2_Missense_Mutation_p.E271K|C6orf10_uc021yvu.1_Missense_Mutation_p.E271K|C6orf10_uc021yvv.1_Missense_Mutation_p.E257K	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	273						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTTTCTGGCTCCTTTATGTGT	0.398000														102			96		0	0	0.00361006	0	0
PDE2A	5138	broad.mit.edu	37	11	72300278	72300278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:72300278C>T	uc010rrc.2	-	11	1126	c.880G>A	c.(880-882)Gga>Aga	p.G294R	PDE2A_uc001oso.3_Missense_Mutation_p.G273R|PDE2A_uc010rra.2_Missense_Mutation_p.G287R|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Missense_Mutation_p.G285R|PDE2A_uc010rrd.2_Missense_Mutation_p.G179R	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	294	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCCAGGCATCCTGTCAACTAG	0.572000														131			45		0	0	0.00361006	0	0
C12orf54	121273	broad.mit.edu	37	12	48882737	48882737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:48882737G>A	uc001rrr.3	+	4	297	c.166G>A	c.(166-168)Gag>Aag	p.E56K	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	56										endometrium(1)|large_intestine(4)	5						TATACAAAAGGAGGTGAGATT	0.368000														177			113		0	0	0.00361006	0	0
GPX6	257202	broad.mit.edu	37	6	28474150	28474150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28474150G>A	uc021yrx.1	-	2	348	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	100					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGGTTGCAGGGAAAGGCCAAC	0.498000														50			39		0	0	0.00148497	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2016677	2016677	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:2016677T>C	uc021qsx.1	-	5	941	c.710A>G	c.(709-711)aAc>aGc	p.N237S	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.N237S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	237						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCTCTGGAAGTTCTCCACGAA	0.453000														24			5		0	0	0.00198382	0	0
DPPA3	359787	broad.mit.edu	37	12	7867807	7867807	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7867807G>A	uc001qtf.3	+	1	189	c.111G>A	c.(109-111)ttG>ttA	p.L37L		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	37						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCGAGACGTTGATAAAGAACC	0.458000														46			60		0	0	0.00361006	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558523	140558523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140558523G>A	uc011dai.2	+	0	1153	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	303	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAAATTCGACTAAAGAAA	0.393000														57			37		0	0	0.000953801	0	0
KCNH7	90134	broad.mit.edu	37	2	163374525	163374525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:163374525G>A	uc002uch.2	-	3	836	c.607C>T	c.(607-609)Cct>Tct	p.P203S	KCNH7_uc002uci.3_Missense_Mutation_p.P203S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	203					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTTTGTAGGAGACTTAAAA	0.443000														71			43		0	0	0.00321405	0	0
ATP13A5	344905	broad.mit.edu	37	3	193019069	193019069	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:193019069G>A	uc011bsq.2	-	23	2706	c.2706C>T	c.(2704-2706)tcC>tcT	p.S902S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	902					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATACTCCAAAGGATGAAACCA	0.323000														153			94		0	0	0.00361006	0	0
COL22A1	169044	broad.mit.edu	37	8	139603680	139603680	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139603680G>A	uc003yvd.3	-	63	5127	c.4680C>T	c.(4678-4680)ccC>ccT	p.P1560P	COL22A1_uc011ljo.2_Silent_p.P840P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1560	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGATTCCAGGGGGTCCCATCT	0.602000										HNSCC(7;0.00092)				20			10		0	0	0.000978159	0	0
PUM1	9698	broad.mit.edu	37	1	31409621	31409621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:31409621C>T	uc001bsi.1	-	20	3411	c.3298G>A	c.(3298-3300)Gag>Aag	p.E1100K	PUM1_uc001bsf.1_Missense_Mutation_p.E768K|PUM1_uc001bsh.1_Missense_Mutation_p.E1102K|PUM1_uc001bsj.1_Missense_Mutation_p.E1076K|PUM1_uc010oga.1_Missense_Mutation_p.E958K|PUM1_uc001bsk.1_Missense_Mutation_p.E1138K|PUM1_uc010ogb.1_Missense_Mutation_p.E1041K|SNORD103A_uc021okk.1_5'Flank	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1100	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GTGCACACCTCATCGATGAGC	0.507000														29			68		0	0	0.00361006	0	0
TATDN2	9797	broad.mit.edu	37	3	10311961	10311961	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:10311961C>T	uc011atr.2	+	3	1676	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	TATDN2_uc003bvg.2_Silent_p.T365T|TATDN2_uc003bvf.3_Silent_p.T365T|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	365						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCTTCACCACCGACTATGTCA	0.532000														58			67		0	0	0.00361006	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948557	133948557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:133948557G>A	uc001lkx.4	+	3	862	c.862G>A	c.(862-864)Gat>Aat	p.D288N		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACAGCAGTTGGATGAAAAAGA	0.483000														5			29		0	0	0.00178596	0	0
PROKR2	128674	broad.mit.edu	37	20	5282938	5282938	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:5282938G>A	uc010zqw.2	-	1	911	c.903C>T	c.(901-903)ttC>ttT	p.F301F	PROKR2_uc010zqx.2_Silent_p.F301F|PROKR2_uc010zqy.2_Silent_p.F301F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	301						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ACACAGTGGGGAAGAAGTCAC	0.552000										HNSCC(71;0.22)				18			44		0	0	0.00170553	0	0
ARAP1	116985	broad.mit.edu	37	11	72410593	72410593	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:72410593G>A	uc001osu.3	-	16	2496	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	ARAP1_uc001osv.3_Silent_p.F769F|ARAP1_uc001osr.3_Silent_p.F529F|ARAP1_uc001oss.3_Silent_p.F524F|ARAP1_uc009yth.3_Silent_p.F463F|ARAP1_uc010rre.2_Silent_p.F524F	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	769	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGCGCCGGCTGAACTCTGGGG	0.617000														111			51		0	0	0.00361006	0	0
ABCB5	340273	broad.mit.edu	37	7	20698167	20698167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:20698167G>A	uc010kuh.3	+	13	1812	c.1575G>A	c.(1573-1575)atG>atA	p.M525I	ABCB5_uc003suw.4_Missense_Mutation_p.M80I|ABCB5_uc003suv.4_Missense_Mutation_p.M80I|ABCB5_uc011jyi.1_Missense_Mutation_p.M80I	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	80	ABC transmembrane type-1.		E -> K (in dbSNP:rs6461515).		regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAGCTCAAATGAGTGGAGGGC	0.423000														36			32		0	0	0.00375469	0	0
C20orf112	140688	broad.mit.edu	37	20	31044121	31044121	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:31044121C>A	uc002wxu.4	-	2	344	c.187G>T	c.(187-189)Gac>Tac	p.D63Y		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	63										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						AAGGCAGGGTCGCCCTGCGTG	0.642000														50			20		9.7654e-05	0.000282167	0.000958276	1	0
ZNF812	729648	broad.mit.edu	37	19	9801900	9801900	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9801900C>T	uc021uop.1	-	5	925	c.279G>A	c.(277-279)gaG>gaA	p.E93E	ZNF812_uc010xkx.2_5'UTR	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CACTGAAGACCTCTCCACAAT	0.398000														16			15		0	0	0.000958276	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17053131	17053131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:17053131G>A	uc003wxe.3	+	3	768	c.371G>A	c.(370-372)gGa>gAa	p.G124E		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	124						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ACCATGTCTGGAGGTAAATGT	0.413000														28			43		0	0	0.00361006	0	0
KIAA1549	57670	broad.mit.edu	37	7	138591708	138591708	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:138591708C>T	uc011kql.2	-	5	3466	c.3417G>A	c.(3415-3417)gaG>gaA	p.E1139E	KIAA1549_uc011kqj.2_Silent_p.E1139E	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1139						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGAAACTGAACTCCACCACAC	0.532000			O	BRAF	pilocytic astrocytoma									68			30		0	0	0.00375469	0	0
ATP8B1	5205	broad.mit.edu	37	18	55368546	55368546	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:55368546C>T	uc002lgw.3	-	5	514	c.394_splice	c.e5-1	p.A132_splice	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	132					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGAACTGCCTAAAAGAATA	0.463000														31			32		0	0	0.00327116	0	0
LRP1	4035	broad.mit.edu	37	12	57598914	57598914	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:57598914C>T	uc001snd.3	+	72	11683	c.11217C>T	c.(11215-11217)acC>acT	p.T3739T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3739	LDL-receptor class A 31.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.T3738S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCACACCACCCACTGCAAAG	0.617000														10			33		0	0	0.00375469	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751886	26751886	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:26751886C>T	uc003cdp.3	+	1	1312	c.723C>T	c.(721-723)tcC>tcT	p.S241S	LRRC3B_uc003cdq.3_Silent_p.S241S|LRRC3B_uc021wuj.1_Silent_p.S241S	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	241						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						ACTTGAAATCCCTGCCAAGCA	0.433000														9			21		0	0	0.00229938	0	0
RIMS2	9699	broad.mit.edu	37	8	104897612	104897612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:104897612C>T	uc003yls.3	+	1	360	c.119C>T	c.(118-120)tCg>tTg	p.S40L	RIMS2_uc003ylp.3_Missense_Mutation_p.S262L|RIMS2_uc003ylw.2_Missense_Mutation_p.S70L|RIMS2_uc003ylq.3_Missense_Mutation_p.S70L|RIMS2_uc003ylr.3_Missense_Mutation_p.S70L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	293	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.A40T(1)		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)			TATGCTACTTCGGATACCGCA	0.408000										HNSCC(12;0.0054)				32			21		0	0	0.00152264	0	0
ANK2	287	broad.mit.edu	37	4	114275446	114275446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:114275446C>T	uc003ibe.4	+	37	5772	c.5672C>T	c.(5671-5673)tCt>tTt	p.S1891F	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S1906F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1858	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAGGCACTCTCCTGTGTCA	0.473000														48			45		0	0	0.00321405	0	0
SUDS3	64426	broad.mit.edu	37	12	118827739	118827739	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:118827739C>T	uc001twz.3	+	4	487	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.	116					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGAACTCTTCCTCCAGCTGG	0.448000														24			18		0	0	0.000566183	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555568	71555568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:71555568G>A	uc004agu.3	+	13	1669	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	PIP5K1B_uc011lrq.2_Missense_Mutation_p.G455E|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	455						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTAGCCCTGGGATCCCGACAC	0.423000														12			83		0	0	0.00361006	0	0
CAMK2B	816	broad.mit.edu	37	7	44283092	44283092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:44283092C>T	uc003tkq.2	-	6	659	c.449G>A	c.(448-450)gGg>gAg	p.G150E	CAMK2B_uc003tkp.2_Missense_Mutation_p.G150E|CAMK2B_uc003tkr.2_Missense_Mutation_p.G150E|CAMK2B_uc003tks.2_Missense_Mutation_p.G150E|CAMK2B_uc003tku.2_Missense_Mutation_p.G150E|CAMK2B_uc003tkv.2_Missense_Mutation_p.G150E|CAMK2B_uc003tkt.2_Missense_Mutation_p.G150E|CAMK2B_uc003tkw.2_Missense_Mutation_p.G150E|CAMK2B_uc010kyc.2_Missense_Mutation_p.G150E	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	150	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CACTGCAGCCCCTTTGCACTT	0.607000														56			25		0	0	0.000720815	0	0
CNTN4	152330	broad.mit.edu	37	3	2908625	2908625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:2908625G>A	uc003bpc.3	+	7	983	c.644G>A	c.(643-645)aGa>aAa	p.R215K	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.R215K|CNTN4_uc003bpd.1_Missense_Mutation_p.R215K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	215					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTAATATTGAGAAATGATGGT	0.393000														31			13		0	0	0.00185496	0	0
GTPBP4	23560	broad.mit.edu	37	10	1054962	1054962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:1054962C>T	uc001ift.3	+	10	1249	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	GTPBP4_uc010qac.1_Missense_Mutation_p.S184F|GTPBP4_uc010qad.2_Missense_Mutation_p.S277F|GTPBP4_uc010qae.2_Missense_Mutation_p.S346F	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	393					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ACTGAGGAGTCCAGGAAGAAG	0.557000														15			34		0	0	0.000814825	0	0
OR5T2	219464	broad.mit.edu	37	11	56000154	56000154	+	Silent	SNP	G	A	A	rs142863951	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56000154G>A	uc010rjc.2	-	0	508	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACTGAATACAGGAGAGGGTTG	0.438000														74			59		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9075413	9075414	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9075413_9075414GG>AA	uc002mkp.3	-	2	12236_12237	c.12032_12033CC>TT	c.(12031-12033)tcc>tTT	p.S4011F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4013	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						TAGTCAAGAAGGAATTAGGCTC	0.475000														53			15		0	0	6.4e-05	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838358	16838358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:16838358G>A	uc010rcu.1	-	10	1870	c.1855C>T	c.(1855-1857)Cac>Tac	p.H619Y	PLEKHA7_uc001mmo.3_Missense_Mutation_p.H619Y|PLEKHA7_uc010rcv.2_Missense_Mutation_p.H193Y|PLEKHA7_uc001mmn.3_Missense_Mutation_p.H327Y	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	619	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTGACAGCGTGGCCCCGTGCC	0.597000														43			19		0	0	0.00121646	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562319	32562319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:32562319C>T	uc001wrl.3	+	1	2683	c.2444C>T	c.(2443-2445)tCc>tTc	p.S815F	ARHGAP5_uc001wrm.3_Missense_Mutation_p.S815F|ARHGAP5_uc001wrn.3_Missense_Mutation_p.S815F|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	815					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGAATAATTCCCTAATGCTT	0.383000														35			46		0	0	0.00361006	0	0
CACNA1C	775	broad.mit.edu	37	12	2162765	2162765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:2162765G>A	uc009zdu.1	+	0	350	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E13K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E13K|CACNA1C_uc001qke.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E13K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E13K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E13K|CACNA1C_uc001qko.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E13K|CACNA1C_uc001qku.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E13K|CACNA1C_uc001qks.2_Missense_Mutation_p.E13K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E13K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E13K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E13K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	13					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATTCCAGAGGAAAACCACCA	0.597000														7			4		0	0	0.00116845	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702640	27702640	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:27702640C>T	uc001itu.2	-	0	658	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	180					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGCGCCGCTCCGCCTTGGCCG	0.632000														57			111		0	0	0.00361006	0	0
BTN2A1	11120	broad.mit.edu	37	6	26465416	26465416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:26465416C>T	uc003nib.2	+	4	964	c.716C>T	c.(715-717)tCc>tTc	p.S239F	BTN2A1_uc021yni.1_Missense_Mutation_p.S239F|BTN2A1_uc003nic.2_Missense_Mutation_p.S239F|BTN2A1_uc011dko.2_Missense_Mutation_p.S178F	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	239					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TTTTCAGAATCCTTTATGCCC	0.478000														68			49		0	0	0.00361006	0	0
OBSCN	84033	broad.mit.edu	37	1	228560448	228560448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228560448G>A	uc009xez.1	+	93	22013	c.21969G>A	c.(21967-21969)atG>atA	p.M7323I	OBSCN_uc001hsr.1_Missense_Mutation_p.M1952I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7323					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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				TCGAGTTTATGATCTTCAGGA	0.607000														8			13		0	0	0.00185496	0	0
KRT27	342574	broad.mit.edu	37	17	38936698	38936698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:38936698C>T	uc002hvg.3	-	2	579	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGCTAGCTCGTTTTCAAAC	0.453000														24			7		0	0	0.00198382	0	0
RANBP17	64901	broad.mit.edu	37	5	170668034	170668034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:170668034G>A	uc003mba.3	+	22	2667	c.2525G>A	c.(2524-2526)tGt>tAt	p.C842Y	RANBP17_uc003mbb.3_Missense_Mutation_p.C167Y|RANBP17_uc003mbd.3_Missense_Mutation_p.C205Y|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	842					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGCCTTGTGTGGAAATTAT	0.448000			T	TRD@	ALL									149			69		0	0	0.00361006	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740314	176740314	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176740314G>A	uc001gkz.3	+	16	5877	c.4713G>A	c.(4711-4713)agG>agA	p.R1571R	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1571	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTAAAGTCAGGAAGTAAGTTG	0.458000														17			12		0	0	0.00136819	0	0
MRPS18A	55168	broad.mit.edu	37	6	43639616	43639617	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43639616_43639617GG>AA	uc003owa.2	-	4	728_729	c.695_696CC>TT	c.(694-696)tcc>tTT	p.S232F	MRPS18A_uc003ovy.2_Missense_Mutation_p.S158F|MRPS18A_uc003ovz.2_3'UTR	NM_018135	NP_060605	Q9NVS2	RT18A_HUMAN	Homo sapiens mitochondrial ribosomal protein S18A (MRPS18A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	158					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			TGGGCTTGACGGAGCCAGGAGC	0.614000														15			12		0	0	6.4e-05	0	0
PSG3	5671	broad.mit.edu	37	19	43382351	43382351	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:43382351C>T	uc002ovd.1	-	1	282	c.144G>A	c.(142-144)ggG>ggA	p.G48G	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.G48G|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.G48G|PSG3_uc002ova.2_Silent_p.G48G|PSG3_uc002ouz.2_Silent_p.G48G|PSG3_uc002ovb.3_Silent_p.G48G	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	48	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.G48W(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GAACATCCTTCCCCTCGGAAA	0.478000														63			22		0	0	0.0024448	0	0
NXF5	55998	broad.mit.edu	37	X	101096486	101096486	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:101096486C>T	uc011mrk.1	-	5	645	c.285G>A	c.(283-285)aaG>aaA	p.K95K	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	95					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAACTTATTCTTCACAGAGT	0.473000														4			29		0	0	0.000814825	0	0
CCDC19	25790	broad.mit.edu	37	1	159860385	159860385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159860385G>A	uc001fui.3	-	2	175	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.P53S	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	53						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGCACAATGGGGCTGTCGCTC	0.527000														42			62		0	0	0.00361006	0	0
DMD	1756	broad.mit.edu	37	X	31222096	31222096	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:31222096G>A	uc004dda.1	-	66	10033	c.9789C>T	c.(9787-9789)gtC>gtT	p.V3263V	DMD_uc004dcq.1_Silent_p.V534V|DMD_uc004dcr.1_Silent_p.V803V|DMD_uc004dcs.1_Silent_p.V803V|DMD_uc004dct.1_Silent_p.V803V|DMD_uc004dcu.1_Silent_p.V803V|DMD_uc004dcv.1_Silent_p.V803V|DMD_uc004dcw.2_Silent_p.V1919V|DMD_uc004dcx.2_Silent_p.V1922V|DMD_uc004dcz.2_Silent_p.V3140V|DMD_uc004dcy.1_Silent_p.V3259V|DMD_uc004ddb.1_Silent_p.V3255V|DMD_uc004dcp.1_Silent_p.V195V|DMD_uc011mkb.1_Silent_p.V195V|DMD_uc004dcm.1_Silent_p.V195V|DMD_uc004dcn.1_Silent_p.V195V|DMD_uc004dco.1_Silent_p.V195V|DMD_uc010ngm.3_Silent_p.V195V	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3263	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCAGCTCCGGACACTTGGCT	0.413000														1			30		0	0	0.00375469	0	0
BZRAP1	9256	broad.mit.edu	37	17	56405038	56405038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56405038C>T	uc002ivx.4	-	0	1115	c.244G>A	c.(244-246)Gct>Act	p.A82T	BZRAP1_uc010dcs.3_Missense_Mutation_p.A82T|BZRAP1_uc010wnt.2_Missense_Mutation_p.A82T|LOC100506779_uc021uan.1_Intron|LOC100506779_uc010dct.2_5'Flank|LOC100506779_uc010dcu.2_5'Flank|LOC100506779_uc021uao.1_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	82						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCAGACAAGCCTCTGCTCCT	0.607000														24			32		0	0	0.001512	0	0
PDE9A	5152	broad.mit.edu	37	21	44188352	44188352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:44188352G>A	uc002zbm.3	+	15	1474	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	PDE9A_uc002zbn.3_Missense_Mutation_p.E344K|PDE9A_uc002zbo.3_Missense_Mutation_p.E418K|PDE9A_uc002zbp.3_Missense_Mutation_p.E264K|PDE9A_uc002zbq.3_Missense_Mutation_p.E369K|PDE9A_uc002zbs.3_Missense_Mutation_p.E264K|PDE9A_uc002zbr.3_Missense_Mutation_p.E264K|PDE9A_uc002zbt.3_Missense_Mutation_p.E343K|PDE9A_uc002zbu.3_Missense_Mutation_p.E337K|PDE9A_uc002zbv.3_Missense_Mutation_p.E311K|PDE9A_uc002zbw.3_Missense_Mutation_p.E254K|PDE9A_uc002zbx.3_Missense_Mutation_p.E411K|PDE9A_uc002zby.3_Missense_Mutation_p.E254K|PDE9A_uc002zbz.3_Missense_Mutation_p.E363K|PDE9A_uc002zca.3_Missense_Mutation_p.E430K|PDE9A_uc002zcb.3_Missense_Mutation_p.E445K|PDE9A_uc002zcc.3_Missense_Mutation_p.E370K|PDE9A_uc002zcd.3_Missense_Mutation_p.E385K|PDE9A_uc002zce.3_Missense_Mutation_p.E404K|PDE9A_uc002zcf.3_Missense_Mutation_p.E264K|PDE9A_uc002zcg.3_Missense_Mutation_p.E264K	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	471	Catalytic (By similarity).				platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CCGTCCAATGGAAGTCGCAGA	0.433000														33			44		0	0	0.00361006	0	0
PSMB10	5699	broad.mit.edu	37	16	67968801	67968801	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:67968801C>A	uc002eux.2	-	6	737	c.609G>T	c.(607-609)ttG>ttT	p.L203F		NM_002801	NP_002792	P40306	PSB10_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 10 (PSMB10), mRNA.	203					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|humoral immune response|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CCAGGTCACCCAAGATCCCGG	0.617000														171			7		0.000673444	0.00194257	0.000673444	1	0
TBC1D17	79735	broad.mit.edu	37	19	50385371	50385371	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50385371C>T	uc002pqo.3	+	5	900	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Silent_p.L168L|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	201						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTTCCACCACCTGCAGCTCTT	0.657000														276			48		0	0	0.00361006	0	0
NPTX2	4885	broad.mit.edu	37	7	98249027	98249027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:98249027G>A	uc003upl.2	+	1	676	c.499G>A	c.(499-501)Ggg>Agg	p.G167R		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	167					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGCGGCTGGGGGAGCTGGA	0.657000														74			40		0	0	0.00170553	0	0
DCST2	127579	broad.mit.edu	37	1	155002639	155002639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:155002639C>T	uc001fgm.3	-	6	1178	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	366						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACAGCCTCCATGCGCAGGA	0.597000														40			62		0	0	0.00361006	0	0
abParts	0	broad.mit.edu	37	14	106733218	106733218	+	RNA	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106733218T>C	uc021ser.1	-	876		c.21328A>G								Parts of antibodies, mostly variable regions.																		TCTGTAGATGTGTCCTCGGTC	0.512000														100			116		0	0	0.00361006	0	0
ZNF808	388558	broad.mit.edu	37	19	53056970	53056970	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53056970C>T	uc010epq.1	+	4	978	c.801C>T	c.(799-801)ctC>ctT	p.L267L	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTGGCAAGCTCTTTAATCACA	0.398000														194			34		0	0	0.00327116	0	0
SLC22A1	6580	broad.mit.edu	37	6	160575853	160575853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:160575853C>T	uc003qtc.3	+	8	1514	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	SLC22A1_uc003qtd.3_Intron	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	470						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ATGGTGTGTTCCTCCCTGTGT	0.428000														7			28		0	0	0.00209593	0	0
ZNF606	80095	broad.mit.edu	37	19	58511242	58511242	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58511242G>A	uc002qqw.3	-	3	729	c.111C>T	c.(109-111)gcC>gcT	p.A37A	ZNF606_uc010yhp.2_Intron|ZNF606_uc002qqx.1_3'UTR	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CCACGTGCCAGGCAGGATACT	0.597000														13			47		0	0	0.00321405	0	0
PDE11A	50940	broad.mit.edu	37	2	178592780	178592780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:178592780C>T	uc002ulq.3	-	10	2227	c.1909G>A	c.(1909-1911)Gta>Ata	p.V637I	PDE11A_uc002ulp.3_Missense_Mutation_p.V193I|PDE11A_uc002ulr.3_Missense_Mutation_p.V387I|PDE11A_uc002uls.1_Missense_Mutation_p.V279I|PDE11A_uc002ult.1_Missense_Mutation_p.V387I|PDE11A_uc002ulu.1_Missense_Mutation_p.V279I	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	637					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AATTTCTGTACCATCCCCAGC	0.458000									Primary Pigmented Nodular Adrenocortical Disease, Familial					32			14		0	0	0.00244969	0	0
AHNAK	79026	broad.mit.edu	37	11	62298472	62298472	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62298472G>A	uc001ntl.3	-	4	3717	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1139					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTCGCCTTTGAGGCTGGGCA	0.532000														60			88		0	0	0.00361006	0	0
C12orf66	144577	broad.mit.edu	37	12	64588126	64588126	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:64588126G>A	uc001srw.4	-	2	893	c.834C>T	c.(832-834)agC>agT	p.S278S		NM_152440	NP_689653	Q96MD2	CL066_HUMAN	Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.	278										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TCGTTTGTCGGCTCAGAGCCT	0.433000														19			48		0	0	0.00361006	0	0
DNAH7	56171	broad.mit.edu	37	2	196822153	196822153	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:196822153G>A	uc002utj.4	-	18	3011	c.2910C>T	c.(2908-2910)ctC>ctT	p.L970L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	970	Stem (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						GAAGCAGTAGGAGCTTGCCCT	0.458000														22			23		0	0	0.00395357	0	0
ARID2	196528	broad.mit.edu	37	12	46246257	46246257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:46246257C>T	uc001ros.1	+	14	4351	c.4351C>T	c.(4351-4353)Cct>Tct	p.P1451S	ARID2_uc001ror.3_Missense_Mutation_p.P1451S|ARID2_uc009zkg.1_Missense_Mutation_p.P907S|ARID2_uc009zkh.1_Missense_Mutation_p.P1078S|ARID2_uc001rou.1_Missense_Mutation_p.P785S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1451					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTTAATGGACCTCTAGCTTC	0.433000			"""N, S, F"""		hepatocellular carcinoma									70			24		0	0	0.000720815	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161783	132161783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132161783G>A	uc003kxx.3	-	3	855	c.50C>T	c.(49-51)aCt>aTt	p.T17I	SHROOM1_uc003kxy.2_Missense_Mutation_p.T17I	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	17					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	p.T17S(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGCTGCTAGTGGACGAGGC	0.711000														6			16		0	0	0.00121646	0	0
ZFHX3	463	broad.mit.edu	37	16	72828002	72828002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72828002C>T	uc002fck.3	-	8	9252	c.8579G>A	c.(8578-8580)gGa>gAa	p.G2860E	ZFHX3_uc002fcl.3_Missense_Mutation_p.G1946E	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2860					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)				AGTTGCTATTCCCGTTGCACT	0.488000														96			38		0	0	0.00170553	0	0
ENPEP	2028	broad.mit.edu	37	4	111397747	111397747	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:111397747C>T	uc003iab.4	+	0	519	c.177C>T	c.(175-177)caC>caT	p.H59H		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	59					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTCCTTCCCACCTGCCTTCTT	0.632000														45			33		0	0	0.000814825	0	0
FKBP15	23307	broad.mit.edu	37	9	115940928	115940928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:115940928C>T	uc004bgs.2	-	19	2221	c.2068G>A	c.(2068-2070)Gtg>Atg	p.V690M	FKBP15_uc010muu.1_Missense_Mutation_p.V754M|FKBP15_uc004bgr.2_Missense_Mutation_p.V127M|FKBP15_uc011lxc.1_Missense_Mutation_p.V271M|FKBP15_uc011lxd.1_Missense_Mutation_p.V622M|FKBP15_uc010mut.1_Missense_Mutation_p.V558M	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	690					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTTGCCTGCACTTTGGTGAGC	0.463000														1			10		0	0	0.000978159	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029550	93029550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:93029550C>T	uc022axs.1	-	2	494	c.307G>A	c.(307-309)Gat>Aat	p.D103N	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D17N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D17N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D7N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D44N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D44N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D17N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D55N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D44N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D44N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D44N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D44N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D24N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D44N|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D7N|RUNX1T1_uc003yff.1_Missense_Mutation_p.D7N|RUNX1T1_uc003yfg.2_Missense_Mutation_p.D7N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	44	Poly-Ser.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTTCACATCCACAGGTGAG	0.473000														30			31		0	0	0.0024448	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727569	66727569	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:66727569C>T	uc010bhq.3	+	1	760	c.285C>T	c.(283-285)gcC>gcT	p.A95A	MAP2K1_uc010ujp.2_Silent_p.A73A	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	95	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|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|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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						TGGTCATGGCCAGAAAGGTGA	0.488000														43			70		0	0	0.00361006	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39911444	39911444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:39911444C>T	uc010xuz.2	+	12	1676	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	PLEKHG2_uc010xuy.2_Missense_Mutation_p.P392S|PLEKHG2_uc002olj.3_Missense_Mutation_p.P451S|PLEKHG2_uc010xva.2_Missense_Mutation_p.P258S	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	451					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACTTGGGTCTCCTCGACCTCG	0.562000														33			20		0	0	0.00332997	0	0
MUC16	94025	broad.mit.edu	37	19	9015627	9015627	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9015627C>T	uc002mkp.3	-	28	38400	c.38196G>A	c.(38194-38196)caG>caA	p.Q12732Q	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12734	SEA 5.				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						TAACCAGACTCTGCAGGACTC	0.527000														39			61		0	0	0.00361006	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447658	10447658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:10447658G>A	uc003gmn.3	-	2	782	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	ZNF518B_uc021xme.1_Missense_Mutation_p.H99Y	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTCACAAAATGAAAATTGGGA	0.418000														45			33		0	0	0.000953801	0	0
ABCB11	8647	broad.mit.edu	37	2	169780212	169780212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:169780212C>T	uc002ueo.1	-	27	4012	c.3886G>A	c.(3886-3888)Gaa>Aaa	p.E1296K	ABCB11_uc010zda.1_Missense_Mutation_p.E714K|ABCB11_uc010zdb.1_Missense_Mutation_p.E772K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1296	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTCCCCTTTTCAATCACCACC	0.517000														20			27		0	0	0.000878237	0	0
TIMP4	7079	broad.mit.edu	37	3	12195891	12195891	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:12195891T>C	uc003bwo.3	-	3	924	c.413A>G	c.(412-414)gAg>gGg	p.E138G	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	138	NTR.						metal ion binding|metalloendopeptidase inhibitor activity	p.W137C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GGACAGGTCCTCCCAGGGCTC	0.493000														259			57		0	0	0.00361006	0	0
SV2C	22987	broad.mit.edu	37	5	75427893	75427893	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:75427893C>T	uc003kei.1	+	1	452	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	106					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGGACAGCATCGTGTCAGTGG	0.552000														21			22		0	0	0.00152264	0	0
COL4A2	1284	broad.mit.edu	37	13	111111224	111111224	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:111111224G>A	uc001vqx.3	+	21	1828	c.1539G>A	c.(1537-1539)agG>agA	p.R513R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	513	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGCCGGGGAGGAAAGGGGACA	0.602000														28			27		0	0	0.000720815	0	0
RCOR3	55758	broad.mit.edu	37	1	211462668	211462668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:211462668C>T	uc010psw.2	+	7	1064	c.869C>T	c.(868-870)tCc>tTc	p.S290F	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.S290F|RCOR3_uc001hif.3_Missense_Mutation_p.S290F|RCOR3_uc001hig.3_Missense_Mutation_p.S232F	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	232	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GTAGCAGTTTCCTGTAGTCCC	0.413000														45			20		0	0	0.00121646	0	0
ZNF528	84436	broad.mit.edu	37	19	52918976	52918976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52918976C>T	uc002pzh.3	+	6	1297	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	ZNF528_uc002pzi.3_Missense_Mutation_p.H58Y	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAGAATTCATACTGGAGA	0.378000														88			90		0	0	0.00361006	0	0
SETDB2	83852	broad.mit.edu	37	13	50062521	50062521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:50062521C>T	uc001vcz.3	+	12	2614	c.1708C>T	c.(1708-1710)Cca>Tca	p.P570S	SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.3_Missense_Mutation_p.P558S	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	570	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGAAACTCCACCAAGGAGCAG	0.378000														66			37		0	0	0.00148497	0	0
RTF1	23168	broad.mit.edu	37	15	41750008	41750008	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:41750008T>G	uc001zny.3	+	3	608	c.596T>G	c.(595-597)aTg>aGg	p.M199R		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	199	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTGGAACAGATGACAGAGAAA	0.502000														89			61		0	0	0.00361006	0	0
ZNF682	91120	broad.mit.edu	37	19	20117385	20117385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:20117385C>T	uc002noq.3	-	3	1049	c.926G>A	c.(925-927)gGa>gAa	p.G309E	ZNF682_uc002noo.3_Missense_Mutation_p.G277E|ZNF682_uc002nop.3_Missense_Mutation_p.G277E|ZNF682_uc010eck.3_Missense_Mutation_p.G233E	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GGGTTTCTTTCCAGTGTGAAT	0.403000														46			50		0	0	0.00361006	0	0
FAM83B	222584	broad.mit.edu	37	6	54806498	54806498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:54806498G>A	uc003pck.3	+	4	2845	c.2729G>A	c.(2728-2730)aGa>aAa	p.R910K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	910										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACCCCTGAAAGAAGACCTACT	0.453000														47			39		0	0	0.00128727	0	0
ULK2	9706	broad.mit.edu	37	17	19680995	19680995	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:19680995T>G	uc002gwm.4	-	25	3460	c.2951A>C	c.(2950-2952)cAg>cCg	p.Q984P	ULK2_uc002gwn.3_Missense_Mutation_p.Q984P	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	984					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ATCTTCGGTCTGCTGAAACAT	0.408000														4			13		0	0	0.00185496	0	0
FLG	2312	broad.mit.edu	37	1	152281741	152281741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152281741G>A	uc001ezu.1	-	2	5657	c.5621C>T	c.(5620-5622)tCa>tTa	p.S1874L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1874	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S1874L(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTCTCCTGATTGTTTCTC	0.572000									Ichthyosis					118			200		0	0	0.00361006	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844543	125844543	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:125844543G>A	uc003eim.1	-	14	1906	c.1716C>T	c.(1714-1716)ccC>ccT	p.P572P	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.P471P	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	572	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GATAGTTCCAGGGGATGATGA	0.577000														34			26		0	0	0.000720815	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554346	140554346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140554346G>A	uc003lit.3	+	0	2104	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	644	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGCTGGTCAAGGACAA	0.711000														20			22		0	0	0.00178596	0	0
TTN	7273	broad.mit.edu	37	2	179567192	179567193	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179567192_179567193GG>TT	uc021vsy.1	-	103	26914_26915	c.26689_26690CC>AA	c.(26689-26691)cca>AAa	p.P8897K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5558K|TTN_uc010fre.1_Missense_Mutation_p.P8K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9824	Ig-like 72.						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)			TTCATCGTCTGGGGTCACATTG	0.426000														331			10		0	0	6.4e-05	0	0
TRPV1	7442	broad.mit.edu	37	17	3477212	3477212	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:3477212G>A	uc010vro.2	-	12	1884	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	TRPV1_uc010vrp.2_Silent_p.S546S|TRPV1_uc010vrq.2_Silent_p.S604S|TRPV1_uc010vrr.2_Silent_p.S606S|TRPV1_uc010vrs.2_Silent_p.S606S|TRPV1_uc010vrt.2_Silent_p.S606S|TRPV1_uc010vru.2_Silent_p.S606S	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	606					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CAGACGGCAGGGAGTCATTCT	0.622000														1			46		0	0	0.00361006	0	0
SIK1	150094	broad.mit.edu	37	21	44839251	44839251	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:44839251G>A	uc002zdf.2	-	9	1354	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	409					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCGAGCTCTGGAGCTCACAGT	0.677000														14			13		0	0	0.00136819	0	0
ZNF677	342926	broad.mit.edu	37	19	53740812	53740812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53740812G>A	uc002qbg.1	-	4	1319	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	ZNF677_uc002qbf.1_Missense_Mutation_p.L390F	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTTGGGTAAGGCTTGAACGT	0.413000														53			60		0	0	0.00361006	0	0
MGAT5B	146664	broad.mit.edu	37	17	74922790	74922790	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:74922790C>T	uc002jti.3	+	8	1405	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	MGAT5B_uc002jth.3_Silent_p.P423P	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	423						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTCAACCCCAAGCAGTTCA	0.627000														49			66		0	0	0.00361006	0	0
PI15	51050	broad.mit.edu	37	8	75756215	75756215	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:75756215G>A	uc003yal.3	+	3	453	c.274_splice	c.e3-1	p.V92_splice	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Splice_Site_p.V92_splice	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	92						extracellular region	peptidase inhibitor activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTCCCCTACAGGTTTGGGATG	0.393000														56			62		0	0	0.00361006	0	0
TINAGL1	64129	broad.mit.edu	37	1	32052509	32052509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:32052509G>A	uc001bta.3	+	11	1459	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	TINAGL1_uc010ogj.2_Missense_Mutation_p.E414K|TINAGL1_uc021oko.1_Missense_Mutation_p.E340K	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	445					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGGCGTCAATGAGTGCGACAT	0.682000														4			9		0	0	0.000673444	0	0
CDR1	1038	broad.mit.edu	37	X	139865906	139865906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:139865906G>A	uc004fbg.1	-	0	818	c.626C>T	c.(625-627)tCc>tTc	p.S209F	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	209										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACATCTTCCGGAAAAAATCCA	0.443000														7			51		0	0	0.00361006	0	0
MYSM1	114803	broad.mit.edu	37	1	59147793	59147793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:59147793G>A	uc009wab.2	-	7	946	c.923C>T	c.(922-924)tCa>tTa	p.S308L	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	308					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TAATTCAATTGATTTTTTGTC	0.373000														58			103		0	0	0.00361006	0	0
UBC	7316	broad.mit.edu	37	17	21731254	21731254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:21731254G>A	uc002gyy.3	+	1	681	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	338	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCAAGATAAAGAAGGCATCCC	0.527000														7			28		0	0	0.001512	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759307	121759307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:121759307C>T	uc003ksw.1	+	3	1081	c.875C>T	c.(874-876)tCc>tTc	p.S292F	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.S292F|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.S339F|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.S292F	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	292					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)		GCAGCAGAATCCAAACCAGAA	0.473000														32			10		0	0	0.000442599	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287225	29287225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:29287225G>A	uc001usj.3	-	2	1194	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F	SLC46A3_uc001usg.3_Missense_Mutation_p.L143F|SLC46A3_uc001usi.3_Missense_Mutation_p.L218F|SLC46A3_uc001ush.3_Missense_Mutation_p.L218F|SLC46A3_uc001usk.3_Missense_Mutation_p.L143F	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	218					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GGATCTCCGAGAAAAAATAAA	0.338000														20			24		0	0	0.00332997	0	0
TPRG1	285386	broad.mit.edu	37	3	188933083	188933083	+	Silent	SNP	G	A	A	rs141310543		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:188933083G>A	uc003frv.2	+	7	1440	c.213G>A	c.(211-213)ccG>ccA	p.P71P	TPRG1_uc003frw.2_Silent_p.P71P	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	71										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CCACACAGCCGGGGGCCATTG	0.488000														51			32		0	0	0.00327116	0	0
ICA1	3382	broad.mit.edu	37	7	8178486	8178486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:8178486C>T	uc003sro.4	-	11	1180	c.1044G>A	c.(1042-1044)atG>atA	p.M348I	ICA1_uc010ktr.3_Missense_Mutation_p.M377I|ICA1_uc003srm.3_Missense_Mutation_p.M348I|ICA1_uc003srn.4_Missense_Mutation_p.M274I|ICA1_uc003srq.3_Missense_Mutation_p.M348I|ICA1_uc003srr.3_Missense_Mutation_p.M347I|ICA1_uc010kts.3_Intron	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	348					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CCTCAGATTTCATGTCTAATA	0.279000														74			67		0	0	0.00361006	0	0
OPRL1	4987	broad.mit.edu	37	20	62729457	62729457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62729457C>T	uc002yic.3	+	3	955	c.536C>T	c.(535-537)tCt>tTt	p.S179F	OPRL1_uc002yid.3_Missense_Mutation_p.S179F|OPRL1_uc021wgs.1_Missense_Mutation_p.S179F|OPRL1_uc002yif.4_Missense_Mutation_p.S174F	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	179					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCCTGGCCTCTGTTGTCGGT	0.647000														68			20		0	0	0.00152264	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671178	112671178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:112671178C>T	uc003pvx.1	+	2	580	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	RFPL4B_uc021zdy.1_Missense_Mutation_p.L90F	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	90	B30.2/SPRY.						zinc ion binding	p.L90L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GAGGGAGGAGCTCCGGCATTT	0.522000														3			35		0	0	0.000953801	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30722746	30722746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:30722746C>T	uc010gvu.3	-	0	210	c.125G>A	c.(124-126)gGg>gAg	p.G42E	TBC1D10A_uc003ahk.4_Missense_Mutation_p.G42E	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	42						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGAGTCAGACCCGAGAGAGCT	0.741000														50			20		0	0	0.000878237	0	0
C12orf53	196500	broad.mit.edu	37	12	6806591	6806591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:6806591C>T	uc021quc.1	-	2	724	c.385G>A	c.(385-387)Gac>Aac	p.D129N	C12orf53_uc001qqf.2_Missense_Mutation_p.D129N|C12orf53_uc001qqg.2_Missense_Mutation_p.D129N	NM_001244015	NP_001230944	Q8IYJ0	CL053_HUMAN	Homo sapiens chromosome 12 open reading frame 53 (C12orf53), transcript variant 3, mRNA.	129						integral to membrane				kidney(2)|large_intestine(1)|lung(3)	6						AAACCATAGTCCAGAAATCCG	0.612000														33			14		0	0	0.000566183	0	0
MUC5B	727897	broad.mit.edu	37	11	1271018	1271018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:1271018G>A	uc001lta.3	+	30	12967	c.12908G>A	c.(12907-12909)aGg>aAg	p.R4303K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4303	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCAGTCCAAGGACTGCAACC	0.627000														55			40		0	0	0.00170553	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650499	94650500	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:94650499_94650500CC>TT	uc001dqj.4	-	17	2406_2407	c.2037_2038GG>AA	c.(2035-2040)aaggaa>aaAAaa	p.E680K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.E246K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	680	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCATCTGGTTCCTTTTTTGCAA	0.317000														74			19		0	0	6.4e-05	0	0
SRRM4	84530	broad.mit.edu	37	12	119540140	119540140	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:119540140G>A	uc001txa.2	+	1	619	c.231G>A	c.(229-231)tgG>tgA	p.W77*		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	77					RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAACAGTTGGGAGAGAGACA	0.552000														10			11		0	0	0.000673444	0	0
MTL5	9633	broad.mit.edu	37	11	68514739	68514739	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:68514739G>A	uc001ooc.3	-	2	707	c.567C>T	c.(565-567)ttC>ttT	p.F189F	MTL5_uc001ood.1_Silent_p.F189F|MTL5_uc009ysi.1_Silent_p.F189F|MTL5_uc001ooe.3_Silent_p.F189F	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	189					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GGGACGATGGGAACTTGCAAC	0.418000														18			31		0	0	0.00209593	0	0
COL1A2	1278	broad.mit.edu	37	7	94049548	94049548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:94049548G>A	uc003ung.1	+	34	2554	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	695			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATTATAGGGCGAAGCTGGGGc	0.502000										HNSCC(75;0.22)				108			34		0	0	0.00209593	0	0
CORO2A	7464	broad.mit.edu	37	9	100897226	100897226	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:100897226C>T	uc004aym.3	-	3	446	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CORO2A_uc004ayl.3_Nonsense_Mutation_p.W110*	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	110					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGGATGCTCCAGATCTTAA	0.632000														5			42		0	0	0.00361006	0	0
CUBN	8029	broad.mit.edu	37	10	16967596	16967596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:16967596C>T	uc001ioo.3	-	41	6501	c.6449G>A	c.(6448-6450)gGg>gAg	p.G2150E		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2150	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G2150V(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAGTAATCCCCCTGGTTGCA	0.423000														28			8		0	0	0.000274275	0	0
NLRP13	126204	broad.mit.edu	37	19	56424369	56424369	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56424369T>A	uc010ygg.2	-	4	839	c.814A>T	c.(814-816)Aaa>Taa	p.K272*		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	272	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TACCTTATTTTATGGCAGCTG	0.443000														117			19		0	0	0.00074312	0	0
FAM123C	205147	broad.mit.edu	37	2	131520787	131520787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:131520787C>T	uc021voy.1	+	0	1142	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	FAM123C_uc002trw.2_Missense_Mutation_p.S381F|FAM123C_uc010fmv.2_Missense_Mutation_p.S381F|FAM123C_uc010fms.1_Missense_Mutation_p.S381F|FAM123C_uc010fmt.1_Missense_Mutation_p.S381F|FAM123C_uc010fmu.1_Missense_Mutation_p.S381F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	381								p.V380M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GAATCCGTGTCCACAAGTGAC	0.637000														20			16		0	0	0.000422831	0	0
EDN2	1907	broad.mit.edu	37	1	41948200	41948200	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:41948200C>G	uc001cgx.3	-	2	353	c.281G>C	c.(280-282)aGg>aCg	p.R94T	EDN2_uc001cgu.3_Non-coding_Transcript|EDN2_uc001cgv.3_Non-coding_Transcript|EDN2_uc009vwh.3_5'UTR|EDN2_uc001cgw.3_Non-coding_Transcript|EDN2_uc009vwi.3_Intron|EDN2_uc009vwj.3_Intron	NM_001956	NP_001947	P20800	EDN2_HUMAN	Homo sapiens endothelin 2 (EDN2), mRNA.	94					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGACAGCGCCTTGGCAGGGA	0.682000														31			91		0	0	0.00361006	0	0
ESRP1	54845	broad.mit.edu	37	8	95653570	95653570	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:95653570G>T	uc003ygq.4	+	0	207	c.24G>T	c.(22-24)ttG>ttT	p.L8F	ESRP1_uc003ygr.4_Missense_Mutation_p.L8F|ESRP1_uc003ygs.4_Missense_Mutation_p.L8F|ESRP1_uc003ygt.4_Missense_Mutation_p.L8F|ESRP1_uc003ygu.4_Missense_Mutation_p.L8F|LOC100288748_uc022ayh.1_5'Flank	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	8					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGGATTACTTGGTGGTGCTTT	0.587000														420			12		0.000308642	0.000891427	0.00316338	1	0
CHDH	55349	broad.mit.edu	37	3	53852986	53852986	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:53852986G>A	uc003dgz.3	-	7	1786	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	449					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TAGTTGGGCTGGATCACAGGG	0.527000														7			38		0	0	0.00170553	0	0
PNCK	139728	broad.mit.edu	37	X	152936627	152936627	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:152936627G>A	uc011myu.2	-	7	1068	c.882C>T	c.(880-882)ccC>ccT	p.P294P	PNCK_uc011myt.2_Silent_p.P228P|PNCK_uc004fhz.4_Silent_p.P109P|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_3'UTR|PNCK_uc011myw.2_3'UTR	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	211	Calmodulin-binding (By similarity).					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTCGTAGAAGGGGGGGTACC	0.592000														4			16		0	0	0.000566183	0	0
OR4X2	119764	broad.mit.edu	37	11	48266696	48266696	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48266696A>C	uc001ngs.1	+	0	41	c.41A>C	c.(40-42)gAg>gCg	p.E14A		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAACCAGGAGGTGCAGAGG	0.448000														55			17		0	0	0.000958276	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823137	12823137	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:12823137C>T	uc002gnr.4	+	5	780	c.453C>T	c.(451-453)tcC>tcT	p.S151S	ARHGAP44_uc010vvk.2_Silent_p.S151S|ARHGAP44_uc010vvl.2_Silent_p.S151S|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Silent_p.S151S|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	151	BAR.				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						ACATGGATTCCTCACGAACCA	0.388000														0			26		0	0	0.00106085	0	0
PTPRR	5801	broad.mit.edu	37	12	71286618	71286618	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:71286618G>A	uc001swi.2	-	1	612	c.198C>T	c.(196-198)taC>taT	p.Y66Y		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	66					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S65N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAGAGGAATGGTAGCTATGTC	0.453000														123			50		0	0	0.00361006	0	0
FAM125B	89853	broad.mit.edu	37	9	129143402	129143402	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:129143402C>T	uc004bqh.2	+	2	350	c.264C>T	c.(262-264)tcC>tcT	p.S88S	FAM125B_uc004bqg.2_Silent_p.S88S|FAM125B_uc011lzy.2_Silent_p.S73S|FAM125B_uc010mxd.3_Silent_p.S81S|FAM125B_uc011lzz.1_Silent_p.S81S	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	88	MABP.				protein transport	late endosome membrane				kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						TATTTAAATCCAAGGTTACCA	0.423000														3			16		0	0	0.00152264	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657694	8657694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:8657694G>A	uc002mkj.1	-	12	1814	c.1540C>T	c.(1540-1542)Ccg>Tcg	p.P514S	ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.P146S	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	514	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCGGCGGCCGGGATGCTGTTG	0.716000														39			31		0	0	0.00327116	0	0
POLR3B	55703	broad.mit.edu	37	12	106824229	106824229	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:106824229C>G	uc001tlp.3	+	13	1664	c.1442C>G	c.(1441-1443)cCt>cGt	p.P481R	POLR3B_uc001tlq.3_Missense_Mutation_p.P423R	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	481					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ATGCTGTGTCCTTCGGACACT	0.527000														44			16		0	0	0.00074312	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259920	40259920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:40259920C>T	uc001zkm.1	+	8	1443	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	EIF2AK4_uc001zkl.3_Missense_Mutation_p.R465C|EIF2AK4_uc010bbj.1_Missense_Mutation_p.R194C	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	465	Protein kinase 1.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	p.R465C(2)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AACCCGAGTTCGTTTTAGTGA	0.498000														52			44		0	0	0.00361006	0	0
WFDC10B	280664	broad.mit.edu	37	20	44313538	44313538	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:44313538G>A	uc002xpc.3	-	2	229	c.201C>T	c.(199-201)ttC>ttT	p.F67F	WFDC10B_uc002xpb.3_Silent_p.F51F	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	51	WAP.					extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				CACACTTTTGGAAATATGAAC	0.463000														54			82		0	0	0.00361006	0	0
LEKR1	389170	broad.mit.edu	37	3	156710923	156710923	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:156710923A>T	uc021xgh.1	+	8	1080	c.966A>T	c.(964-966)aaA>aaT	p.K322N	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	38										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGATATATAAAGCATTACAGG	0.338000														68			44		0	0	0.0025221	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951972	46951972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:46951972G>A	uc002zhl.2	-	2	433	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S	SLC19A1_uc010gpy.1_Missense_Mutation_p.P94S|SLC19A1_uc011aft.2_Missense_Mutation_p.P54S|SLC19A1_uc002zhm.2_Missense_Mutation_p.P94S|SLC19A1_uc010gpz.2_5'UTR	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	94					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		AGCAGCACCGGCGTGTAGCGC	0.647000														39			16		0	0	0.00074312	0	0
H6PD	9563	broad.mit.edu	37	1	9324630	9324630	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:9324630T>C	uc001apt.3	+	4	2351	c.2078T>C	c.(2077-2079)aTg>aCg	p.M693T		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	693	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CTGCTGGGCATGGGTGCCGAC	0.677000														8			84		0	0	0.00361006	0	0
ARMC4	55130	broad.mit.edu	37	10	28272861	28272861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:28272861G>A	uc009xky.3	-	5	828	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.R244C|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	244							binding			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						ATTTCCCCACGAATTTGTCTC	0.403000														19			27		0	0	0.000878237	0	0
NRAP	4892	broad.mit.edu	37	10	115374691	115374691	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:115374691T>C	uc001lal.3	-	27	3257	c.3093A>G	c.(3091-3093)gaA>gaG	p.E1031E	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Silent_p.E1031E|NRAP_uc001lak.3_Silent_p.E996E	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1031						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCAGGATTCCTTATAAC	0.458000														6			39		0	0	0.0025221	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930846	31930846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31930846C>T	uc003nyn.1	+	12	1770	c.1381C>T	c.(1381-1383)Ctt>Ttt	p.L461F	SKIV2L_uc011dou.1_Missense_Mutation_p.L303F|SKIV2L_uc011dov.1_Missense_Mutation_p.L268F	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	461	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCCCAACGCCCTTGAGTTTGC	0.582000														193			164		0	0	0.00361006	0	0
DNAH8	1769	broad.mit.edu	37	6	38813486	38813486	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:38813486C>A	uc021yzh.1	+	35	5091	c.4982C>A	c.(4981-4983)tCg>tAg	p.S1661*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.S1444*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.K1660N(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAACCGAATCGGGAGAAATT	0.398000														85			5		0.00198382	0.00571265	0.00198382	1	0
CSMD3	114788	broad.mit.edu	37	8	114326957	114326957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:114326957G>A	uc003ynu.3	-	1	403	c.244C>T	c.(244-246)Cca>Tca	p.P82S	CSMD3_uc003ynt.3_Missense_Mutation_p.P42S|CSMD3_uc011lhx.2_Missense_Mutation_p.P82S|CSMD3_uc010mcx.1_Missense_Mutation_p.P82S|CSMD3_uc003ynx.4_Missense_Mutation_p.P82S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	82	CUB 1.					integral to membrane|plasma membrane		p.P82S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCATATGGAAAACCAGGG	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				178			82		0	0	0.00361006	0	0
DNAH5	1767	broad.mit.edu	37	5	13931332	13931332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:13931332C>T	uc003jfd.2	-	1	121	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	27	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCTTGGCTTCCTTCTCTCCC	0.393000									Kartagener syndrome					7			72		0	0	0.00361006	0	0
ADAM30	11085	broad.mit.edu	37	1	120438381	120438381	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:120438381C>T	uc001eij.3	-	0	767	c.579G>A	c.(577-579)agG>agA	p.R193R		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	193					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAGGAAAGTCCCTTAGCCTCG	0.408000														549			173		0	0	0.00361006	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150734	132150734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132150734C>T	uc003kxw.3	+	0	1702	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA.	474																	ATCCTCAGTTCCACCACCAGT	0.637000														10			10		0	0	0.000442599	0	0
NUP133	55746	broad.mit.edu	37	1	229606485	229606486	+	Missense_Mutation	DNP	GC	CG	CG			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:229606485_229606486GC>CG	uc001htn.3	-	14	2009_2010	c.1917_1918GC>CG	c.(1915-1920)ttgctc>ttCGtc	p.639_640LL>FV		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	639					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCTCACAGAGCAACAGTCGAG	0.480000														53			14		0	0	6.4e-05	0	0
ANO2	57101	broad.mit.edu	37	12	5685149	5685149	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:5685149G>A	uc001qnm.2	-	23	2544	c.2472C>T	c.(2470-2472)atC>atT	p.I824I		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	829						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCAGGCGGGGGATAAAGTCGG	0.517000														9			7		0	0	0.00198382	0	0
AHNAK	79026	broad.mit.edu	37	11	62291668	62291668	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62291668G>A	uc001ntl.3	-	4	10521	c.10221C>T	c.(10219-10221)ttC>ttT	p.F3407F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3407					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAATACTCAGGAAAGGCATTT	0.388000														33			48		0	0	0.00361006	0	0
NBEA	26960	broad.mit.edu	37	13	35619500	35619500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:35619500C>T	uc021rid.1	+	3	1219	c.685C>T	c.(685-687)Cct>Tct	p.P229S	NBEA_uc021ric.1_Missense_Mutation_p.P229S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	229						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAGACACGGTCCTGATACTTT	0.333000														11			18		0	0	0.00188189	0	0
FAM169A	26049	broad.mit.edu	37	5	74130379	74130379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:74130379C>T	uc003kdm.3	-	4	405	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	FAM169A_uc010izm.3_Missense_Mutation_p.R121Q|FAM169A_uc003kdl.3_Intron	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	121										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ATAAATAATTCGATTCAGAAC	0.408000														22			18		0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179603052	179603052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179603052C>T	uc021vsy.1	-	45	10621	c.10396G>A	c.(10396-10398)Gaa>Aaa	p.E3466K	TTN_uc021vsz.1_Missense_Mutation_p.E4539K|TTN_uc021vta.1_Missense_Mutation_p.E4472K|TTN_uc021vtb.1_Missense_Mutation_p.E4347K|TTN_uc002umz.1_Missense_Mutation_p.E127K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4393							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)			AGTGCTACTTCCAGGGGTTCG	0.468000														10			18		0	0	0.00152264	0	0
CCND3	896	broad.mit.edu	37	6	41904341	41904341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:41904341C>T	uc003orn.3	-	3	832	c.667G>A	c.(667-669)Gat>Aat	p.D223N	CCND3_uc003orp.3_Missense_Mutation_p.D142N|CCND3_uc011duk.2_Missense_Mutation_p.D27N|CCND3_uc003orm.3_Missense_Mutation_p.D173N|CCND3_uc003oro.3_Missense_Mutation_p.D151N	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.	223					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGAGCTCATCCCCGGACATG	0.582000			T	IGH@	MM						OREG0017437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			20		0	0	0.00121646	0	0
PLXDC1	57125	broad.mit.edu	37	17	37234198	37234198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:37234198G>A	uc002hrg.2	-	10	1366	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.S93F|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	385					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GAAGAGGGAGGAGGAGGTAGT	0.607000														5			43		0	0	0.00361006	0	0
DGCR8	54487	broad.mit.edu	37	22	20094149	20094149	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:20094149G>C	uc002zri.3	+	10	2353	c.1924G>C	c.(1924-1926)Gaa>Caa	p.E642Q	DGCR8_uc010grz.3_Missense_Mutation_p.E609Q|DGCR8_uc002zrj.3_Missense_Mutation_p.E285Q	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	642	DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TATCAAGTTTGAAGTGGTTCC	0.537000														45			24		0	0	0.000720815	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784509	15784509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:15784509G>A	uc002nbl.3	+	1	289	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYP4F12_uc010xoo.2_Missense_Mutation_p.R57Q|CYP4F12_uc010xop.2_Missense_Mutation_p.R57Q	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCCCAAAACGGAACTGGTTT	0.587000														40			73		0	0	0.00361006	0	0
POU5F1	5460	broad.mit.edu	37	6	31138066	31138066	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31138066G>A	uc011dng.1	+	0		c.74G>A			POU5F1_uc003nsv.3_Missense_Mutation_p.S111F			Q01860	PO5F1_HUMAN	Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone ARO0003057_AS.						BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						GGGCTCCGGGGAGGCCCCATC	0.662000			T	EWSR1	sarcoma									25			21		0	0	0.00152264	0	0
IRF6	3664	broad.mit.edu	37	1	209964072	209964072	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:209964072G>A	uc001hhq.2	-	6	1132	c.828C>T	c.(826-828)ttC>ttT	p.F276F	IRF6_uc010psm.2_Silent_p.F181F	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	276					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGGACCTGGGAATTTGACCT	0.567000										HNSCC(57;0.16)				31			35		0	0	0.000814825	0	0
MADD	8567	broad.mit.edu	37	11	47330884	47330884	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:47330884C>T	uc001ner.1	+	26	4175	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F	MADD_uc001neq.2_Silent_p.F1269F|MADD_uc001nev.1_Silent_p.F1226F|MADD_uc001nes.1_Silent_p.F1246F|MADD_uc001net.1_Silent_p.F1289F|MADD_uc009yln.1_Silent_p.F1222F|MADD_uc001neu.1_Silent_p.F1226F|MADD_uc001nez.2_Silent_p.F1225F|MADD_uc001new.2_Silent_p.F1268F|MADD_uc001nex.2_Silent_p.F1328F|MADD_uc009ylo.3_Silent_p.F242F	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1328					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AAGATGCCTTCTTAGATGCTG	0.453000														22			53		0	0	0.00361006	0	0
LHX9	56956	broad.mit.edu	37	1	197889293	197889293	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:197889293G>A	uc001guk.1	+	1	803	c.366G>A	c.(364-366)gaG>gaA	p.E122E	LHX9_uc001gui.1_Silent_p.E113E	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	122	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ACTGCAAGGAGGATTACTACA	0.577000														84			27		0	0	0.0024448	0	0
FBN2	2201	broad.mit.edu	37	5	127616001	127616001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:127616001C>T	uc003kuu.3	-	55	7460	c.7021G>A	c.(7021-7023)Gaa>Aaa	p.E2341K		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2341	EGF-like 40; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCCTGCATTCATTTTCATCT	0.318000														41			14		0	0	0.00316338	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039796	17039796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:17039796C>T	uc002nfb.3	-	23	3273	c.3241G>A	c.(3241-3243)Gaa>Aaa	p.E1081K		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1034						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						GTTCTGAATTCATCCCAGGAG	0.562000														39			17		0	0	0.00121646	0	0
C20orf118	140711	broad.mit.edu	37	20	35507473	35507473	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:35507473C>T	uc002xgg.1	+	2	227	c.219C>T	c.(217-219)acC>acT	p.T73T	C20orf118_uc021wcz.1_Silent_p.T73T	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	73								p.T73T(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CAAGAGTCACCGGCCATCCCT	0.632000														131			37		0	0	0.0025221	0	0
LAMB1	3912	broad.mit.edu	37	7	107601006	107601006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:107601006G>A	uc003vev.2	-	15	2431	c.2270C>T	c.(2269-2271)aCc>aTc	p.T757I	LAMB1_uc003vew.2_Missense_Mutation_p.T733I|LAMB1_uc003vex.3_Missense_Mutation_p.T733I	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	733	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCTGAAAGGTTTCCCAGGC	0.458000														88			35		0	0	0.000814825	0	0
CA8	767	broad.mit.edu	37	8	61178606	61178606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:61178606G>A	uc003xtz.1	-	2	543	c.295C>T	c.(295-297)Ctt>Ttt	p.L99F	CA8_uc003xua.1_Missense_Mutation_p.L99F|CA8_uc003xub.3_Missense_Mutation_p.L99F	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	99					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CCTCCCGAAAGAACTGAAAAA	0.393000														23			14		0	0	0.000422831	0	0
FAM171A1	221061	broad.mit.edu	37	10	15317887	15317887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:15317887C>T	uc001iob.3	-	2	392	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	129						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACGACATCTTCATATACCATT	0.338000														65			18		0	0	0.00152264	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901655	2901655	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:2901655G>A	uc010ckd.3	+	13	1275	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	RAP1GAP2_uc010cke.3_Silent_p.E380E	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	395	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						CAGGCACAGAGACCCCATCCT	0.537000														9			133		0	0	0.00361006	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175679	143175679	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143175679C>T	uc003wdc.1	+	0	714	c.714C>T	c.(712-714)tcC>tcT	p.S238S	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	238					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCTCATCTCCTTCCTCATTC	0.507000														77			46		0	0	0.00361006	0	0
DOPEY2	9980	broad.mit.edu	37	21	37660349	37660349	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:37660349C>T	uc002yvg.3	+	32	6277	c.6198C>T	c.(6196-6198)tcC>tcT	p.S2066S	DOPEY2_uc011aeb.2_Silent_p.S2015S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	2066					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GACAGACATCCATAGTTGCTG	0.378000														74			57		0	0	0.00361006	0	0
MGAM	8972	broad.mit.edu	37	7	141763352	141763352	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141763352G>A	uc003vwy.3	+	35	4365	c.4311G>A	c.(4309-4311)agG>agA	p.R1437R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1437	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGGCTGCAGGGACGCCTCTC	0.502000														26			6		0	0	0.00307968	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787360	122787360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:122787360G>A	uc003vkm.3	-	6	690	c.665C>T	c.(664-666)tCa>tTa	p.S222L	SLC13A1_uc010lks.3_Missense_Mutation_p.S98L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	222						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TCTCATGCCTGAGTTCTGTTC	0.418000														21			10		0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82544905G>A	uc003uhx.2	-	6	12686	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_uc003uhv.2_Missense_Mutation_p.R4133C|PCLO_uc010lec.3_Missense_Mutation_p.R1098C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCCTCTACGAAATTCCTGT	0.408000														30			93		0	0	0.00361006	0	0
MAVS	57506	broad.mit.edu	37	20	3844958	3844958	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3844958C>T	uc002wjw.4	+	5	853	c.681C>T	c.(679-681)ttC>ttT	p.F227F	MAVS_uc002wjx.4_Silent_p.F86F|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CTGTCTCCTTCCAGCCCCTGG	0.607000														88			37		0	0	0.00148497	0	0
FLJ43860	389690	broad.mit.edu	37	8	142486025	142486025	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:142486025C>T	uc003ywi.2	-	13	1749	c.1668_splice	c.e13+1	p.Q556_splice	FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	556							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CACAGCAAACCTGTAGGTGCT	0.577000														18			6		0	0	0.00116845	0	0
ZNF658	26149	broad.mit.edu	37	9	40773090	40773090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:40773090G>A	uc004abs.2	-	4	2337	c.2185C>T	c.(2185-2187)Ctt>Ttt	p.L729F	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.L729F	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTGCTCTAAGGGCTGAATTA	0.418000														17			113		0	0	0.00361006	0	0
EGR4	1961	broad.mit.edu	37	2	73518712	73518712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:73518712C>T	uc010yrj.2	-	1	1718	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H	EGR4_uc010yrk.1_Missense_Mutation_p.R547H	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	444						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCGAAGCGGCGGCCGCACAC	0.662000														29			20		0	0	0.00229938	0	0
NR4A1	3164	broad.mit.edu	37	12	52448684	52448684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52448684C>T	uc001rzs.3	+	2	891	c.572C>T	c.(571-573)tCc>tTc	p.S191F	NR4A1_uc010sno.2_Missense_Mutation_p.S204F|NR4A1_uc001rzr.2_Missense_Mutation_p.S191F|NR4A1_uc009zmb.2_Missense_Mutation_p.S191F|NR4A1_uc001rzt.3_Missense_Mutation_p.S191F|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	191					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCCTTCTTTTCCTTCAGTCCT	0.657000														76			41		0	0	0.00170553	0	0
RERGL	79785	broad.mit.edu	37	12	18234351	18234351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:18234351C>T	uc001rdq.3	-	5	586	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	131	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GCCAACCTCTCGCACATGACA	0.448000														40			13		0	0	0.00136819	0	0
CUL9	23113	broad.mit.edu	37	6	43184064	43184064	+	Silent	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43184064T>A	uc003ouk.3	+	30	6180	c.6105T>A	c.(6103-6105)gcT>gcA	p.A2035A	CUL9_uc003oul.3_Silent_p.A2007A|CUL9_uc010jyk.3_Silent_p.A1187A|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2035					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.G2034G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACTGGGGCGCTGAACAGCTGC	0.602000														22			12		0	0	0.00136819	0	0
LPAL2	80350	broad.mit.edu	37	6	160908435	160908435	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:160908435G>A	uc003qtj.2	-	3		c.538C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CGAACAATCCGGATTCCTGCA	0.493000														4			18		0	0	0.000958276	0	0
TRPC4	7223	broad.mit.edu	37	13	38237701	38237701	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:38237701G>A	uc010abx.3	-	5	1775	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	TRPC4_uc010abv.3_Silent_p.L94L|TRPC4_uc001uwt.3_Silent_p.L514L|TRPC4_uc001uws.3_Silent_p.L514L|TRPC4_uc010tey.2_Silent_p.L514L|TRPC4_uc010abw.3_Silent_p.L341L|TRPC4_uc010aby.3_Silent_p.L514L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	514					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAAATGTCCAGGAGCATTCTT	0.388000														11			25		0	0	0.00395357	0	0
SNTG2	54221	broad.mit.edu	37	2	1094073	1094073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1094073C>T	uc002qwq.3	+	3	431	c.302C>T	c.(301-303)tCa>tTa	p.S101L	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	101	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTCGTCATATCAAAAATATTC	0.378000														48			21		0	0	0.00278032	0	0
RILP	83547	broad.mit.edu	37	17	1551726	1551726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:1551726C>T	uc002ftd.3	-	4	1033	c.739G>A	c.(739-741)Gag>Aag	p.E247K	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.	247	RILP-like.				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTCAAACTCCTCCCGACTG	0.632000														7			111		0	0	0.00361006	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22259571	22259571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:22259571C>T	uc003svg.3	-	8	764	c.451G>A	c.(451-453)Gga>Aga	p.G151R		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	p.V151F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCAATTCGTCCGATTTCATCT	0.438000														28			16		0	0	0.000422831	0	0
ZNF510	22869	broad.mit.edu	37	9	99521932	99521932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:99521932G>A	uc004awn.1	-	5	1369	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	ZNF510_uc004awo.1_Missense_Mutation_p.R394C	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTTCTTCGGCGAACTCTGTGA	0.398000														17			91		0	0	0.00361006	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050499	110050499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:110050499C>T	uc021org.1	-	0	1036	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	AMIGO1_uc001dxx.4_Missense_Mutation_p.E346K	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	346	Ig-like C2-type.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTGAAAGTCTCTCCCATGGCA	0.512000														28			53		0	0	0.00361006	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167846	33167846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:33167846C>T	uc002ntp.1	+	0	1534	c.677C>T	c.(676-678)gCc>gTc	p.A226V	ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN	Homo sapiens regulator of G protein signaling 9 binding protein (RGS9BP), mRNA.	226					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					GCGGCTGTGGCCCTAGCCGTG	0.706000														8			12		0	0	0.00316338	0	0
PCSK5	5125	broad.mit.edu	37	9	78804657	78804657	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:78804657A>G	uc004akc.2	+	19	3159	c.2621A>G	c.(2620-2622)aAg>aGg	p.K874R	PCSK5_uc004ajz.3_Missense_Mutation_p.K874R|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.K148R	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	874	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.C873F(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCATTTGCAAGGATGGTGAG	0.408000														5			34		0	0	0.00283554	0	0
TNXB	7148	broad.mit.edu	37	6	32032812	32032812	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32032812G>A	uc003nzl.2	-	18	6829	c.6627C>T	c.(6625-6627)tcC>tcT	p.S2209S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2281	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGAGGCTGAGGGAGTCGGAGG	0.597000														241			65		0	0	0.00361006	0	0
PTPN5	84867	broad.mit.edu	37	11	18759452	18759452	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18759452C>T	uc001mpd.3	-	8	1406	c.975G>A	c.(973-975)aaG>aaA	p.K325K	PTPN5_uc001mpb.3_Silent_p.K293K|PTPN5_uc001mpc.3_Silent_p.K325K|PTPN5_uc010rdj.2_Silent_p.K269K|PTPN5_uc001mpf.3_Silent_p.K301K|PTPN5_uc001mpe.3_Silent_p.K293K|PTPN5_uc010rdk.2_Silent_p.K270K	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	325	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGTACCGGTTCTTCCGCACCA	0.582000														20			26		0	0	0.000878237	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676170	37676170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37676170G>A	uc002ofq.3	-	4	2521	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	ZNF585B_uc002ofr.1_Nonsense_Mutation_p.Q571*	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGATTTCTGAACGAAGCCT	0.483000														38			25		0	0	0.00178596	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746171	140746171	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140746171C>T	uc003lju.2	+	0	2274	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.S758S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	763					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAGGTCTCCCTCACCGCGG	0.597000														46			65		0	0	0.00361006	0	0
SUPT6H	6830	broad.mit.edu	37	17	27015132	27015132	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:27015132G>A	uc010crt.3	+	24	3222	c.3030G>A	c.(3028-3030)cgG>cgA	p.R1010R	SUPT6H_uc002hby.3_Silent_p.R1010R|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1010					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACAACACCCGGCTCGAGAGCC	0.592000														3			48		0	0	0.00361006	0	0
FLG	2312	broad.mit.edu	37	1	152285860	152285860	+	Missense_Mutation	SNP	C	T	T	rs145828067		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152285860C>T	uc001ezu.1	-	2	1538	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R501Q(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTCGTGCCTGCTC	0.612000									Ichthyosis					88			150		0	0	0.00361006	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37441020	37441020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:37441020G>A	uc021ppc.1	+	11	1609	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	ANKRD30A_uc001iza.1_Missense_Mutation_p.D504N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	560						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K503N(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAACAAAAGGACTATGAAGA	0.299000														58			14		0	0	0.000422831	0	0
NTF4	4909	broad.mit.edu	37	19	49565005	49565005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49565005C>T	uc002pmf.4	-	1	386	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.E84K	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	84			E -> K (in a patient with primary open- angle glaucoma; uncertain pathological significance).		adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGTGCAGTTTCGCTCACCCCA	0.701000														6			4		0	0	0.00116845	0	0
MNDA	4332	broad.mit.edu	37	1	158819007	158819007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158819007G>A	uc001fsz.1	+	6	1404	c.1204G>A	c.(1204-1206)Gga>Aga	p.G402R		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	402					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.G402fs*3(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAACAAGGAAGGACCAATGAA	0.318000														19			22		0	0	0.00106085	0	0
ITGA4	3676	broad.mit.edu	37	2	182392056	182392056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:182392056C>T	uc002unu.3	+	21	3135	c.2372C>T	c.(2371-2373)tCa>tTa	p.S791L	ITGA4_uc010frj.1_Missense_Mutation_p.S273L|ITGA4_uc002unv.3_Missense_Mutation_p.S36L	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	791					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTGTATGGATCAAATGATGAA	0.294000														24			21		0	0	0.000720815	0	0
BHMT2	23743	broad.mit.edu	37	5	78379595	78379596	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:78379595_78379596GG>AA	uc003kft.3	+	6	985_986	c.926_927GG>AA	c.(925-927)agg>aAA	p.R309K	BHMT2_uc011cth.2_Missense_Mutation_p.R245K	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	309					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GCCCCAGAAAGGGGCTTTTTGC	0.530000														24			20		0	0	6.4e-05	0	0
SLC6A5	9152	broad.mit.edu	37	11	20648277	20648277	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:20648277C>T	uc001mqd.3	+	7	1557	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	SLC6A5_uc009yic.3_Silent_p.F193F	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	428					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGGCCACGTTCCCGTATGTCG	0.577000														21			34		0	0	0.000953801	0	0
abParts	0	broad.mit.edu	37	14	106774146	106774146	+	RNA	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106774146G>A	uc021ser.1	-	683		c.18664C>T								Parts of antibodies, mostly variable regions.																		AGGTGTCCATGGAGAAGACAA	0.532000														8			9		0	0	0.000274275	0	0
ARID3A	1820	broad.mit.edu	37	19	929675	929675	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:929675C>T	uc002lql.3	+	1	437	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	49						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGAGCCCGAGAGTGCCC	0.776000														3			5		0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9088106	9088106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9088106G>A	uc002mkp.3	-	0	3913	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1237	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						CTGAGGGTTGGAAGTCCCCCT	0.507000														204			83		0	0	0.00361006	0	0
OR51B4	79339	broad.mit.edu	37	11	5322332	5322332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:5322332G>A	uc010qza.2	-	0	845	c.845C>T	c.(844-846)cCa>cTa	p.P282L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCACGAATGGAGGAAAGAG	0.433000														23			19		0	0	0.000958276	0	0
ROR2	4920	broad.mit.edu	37	9	94499787	94499787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:94499787C>T	uc004arj.2	-	4	707	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ROR2_uc004ari.1_Missense_Mutation_p.E30K|ROR2_uc004ark.3_Missense_Mutation_p.E170K	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	170	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			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						AACCCATCCTCGTGGTAATCA	0.517000														5			25		0	0	0.00178596	0	0
LRFN2	57497	broad.mit.edu	37	6	40360041	40360041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:40360041C>T	uc003oph.1	-	2	2476	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	671						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCAGCTCCTCCTTTCTCTGA	0.726000														19			9		0	0	0.000442599	0	0
CMA1	1215	broad.mit.edu	37	14	24976608	24976608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:24976608G>A	uc001wpp.1	-	1	193	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	55	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CGTCTTATAAGGAAACCACCA	0.488000														83			80		0	0	0.00361006	0	0
SFRP1	6422	broad.mit.edu	37	8	41122947	41122947	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:41122947C>T	uc003xnt.3	-	2	996	c.684G>A	c.(682-684)aaG>aaA	p.K228K		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	228	NTR.				DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GCTTCTTCTTCTTGGGGACAA	0.473000														50			25		0	0	0.00395357	0	0
SAMD7	344658	broad.mit.edu	37	3	169644746	169644746	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:169644746C>T	uc003fgd.3	+	5	963	c.696C>T	c.(694-696)ccC>ccT	p.P232P	SAMD7_uc003fge.3_Silent_p.P232P|SAMD7_uc011bpo.2_Silent_p.P133P	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	232								p.P232P(2)|p.P232H(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TTGAAGCACCCAGCAACCAGA	0.483000														51			18		0	0	0.00074312	0	0
GPR158	57512	broad.mit.edu	37	10	25887866	25887866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:25887866G>A	uc001isj.3	+	10	3371	c.3311G>A	c.(3310-3312)gGa>gAa	p.G1104E	GPR158_uc001isk.3_Missense_Mutation_p.G479E	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1104						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N1103N(1)		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						GAGGAGAACGGAGGTCAGCCT	0.493000														68			26		0	0	0.000720815	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667507	122667507	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:122667507G>A	uc003efz.1	-	2	478	c.174C>T	c.(172-174)atC>atT	p.I58I	SEMA5B_uc011bju.1_5'UTR|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.I58I|SEMA5B_uc010hro.1_5'UTR|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	58					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAAGCACCATGATAGGCCCCT	0.627000														30			17		0	0	0.000566183	0	0
NOBOX	135935	broad.mit.edu	37	7	144098256	144098256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:144098256G>A	uc022aoj.1	-	3	727	c.727C>T	c.(727-729)Cac>Tac	p.H243Y		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	243					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTGGCCAGGTGGCAGGGCCCC	0.602000														7			21		0	0	0.00121646	0	0
DGCR2	9993	broad.mit.edu	37	22	19052576	19052576	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:19052576G>A	uc002zoq.1	-	3	581	c.333C>T	c.(331-333)ttC>ttT	p.F111F	DGCR2_uc021wkx.1_Intron|DGCR2_uc021wky.1_Silent_p.F70F|DGCR2_uc021wkz.1_5'UTR|DGCR2_uc011agr.1_Intron|DGCR2_uc002zor.1_Intron	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	111					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ACTTCCCTAGGAAACATAAAG	0.547000														24			6		0	0	0.00116845	0	0
CCNA1	8900	broad.mit.edu	37	13	37016374	37016374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:37016374C>T	uc001uvr.4	+	7	1629	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	CCNA1_uc010teo.2_Missense_Mutation_p.H383Y|CCNA1_uc010abq.3_Missense_Mutation_p.H383Y|CCNA1_uc010abp.3_Missense_Mutation_p.H383Y|CCNA1_uc001uvs.4_Missense_Mutation_p.H426Y|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	427					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GAGTGAGCTTCATAAAGCGTA	0.398000														22			48		0	0	0.00361006	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793566	65793566	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65793566G>A	uc001ogt.3	-	0	423	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	95	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGACCAAAGCCTGTGGGGC	0.597000														53			66		0	0	0.00361006	0	0
IL6ST	3572	broad.mit.edu	37	5	55237154	55237154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:55237154G>A	uc003jqq.3	-	16	2826	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L	IL6ST_uc003jqp.3_3'UTR|IL6ST_uc010iwd.3_Missense_Mutation_p.S157L|IL6ST_uc011cqk.2_Missense_Mutation_p.S549L|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Missense_Mutation_p.S777L	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	838					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTGACTGATGAAACTTGCTT	0.383000			O		hepatocellular ca									90			67		0	0	0.00361006	0	0
ODZ4	26011	broad.mit.edu	37	11	78399209	78399209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:78399209C>T	uc001ozl.4	-	28	5613	c.5150G>A	c.(5149-5151)cGa>cAa	p.R1717Q		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1717					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGTATCACTTCGGAAACTGCT	0.517000														108			47		0	0	0.00361006	0	0
WDR17	116966	broad.mit.edu	37	4	177098301	177098301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:177098301C>T	uc003iuj.3	+	28	3962	c.3659C>T	c.(3658-3660)aCc>aTc	p.T1220I	WDR17_uc003ium.4_Missense_Mutation_p.T1181I|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.T431I	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1220										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ACACAGTCCACCAACAGGTGA	0.373000														4			10		0	0	0.00185496	0	0
WIPF2	147179	broad.mit.edu	37	17	38421226	38421226	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:38421226T>C	uc002hug.1	+	4	1038	c.798T>C	c.(796-798)tcT>tcC	p.S266S	WIPF2_uc002huh.1_Silent_p.S116S|WIPF2_uc010cww.1_Silent_p.S116S|WIPF2_uc002hui.1_Silent_p.S266S|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Silent_p.S266S	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	266						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						ATGGACCCTCTAGCCCCACTA	0.592000										HNSCC(43;0.11)				9			104		0	0	0.00361006	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958196	143958196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:143958196G>A	uc010mey.3	-	5	921	c.914C>T	c.(913-915)aCc>aTc	p.T305I	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.T234I|CYP11B1_uc003yxj.3_Missense_Mutation_p.T234I	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	234					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GAGCTGGACGGTGGATTTGAA	0.587000									Familial Hyperaldosteronism type I					36			21		0	0	0.00332997	0	0
POLR1A	25885	broad.mit.edu	37	2	86272890	86272890	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:86272890G>A	uc002sqs.3	-	19	3115	c.2736C>T	c.(2734-2736)atC>atT	p.I912I	POLR1A_uc010ytb.2_Silent_p.I278I|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	912					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCAGGCACGAGATCTGGAGGA	0.517000														33			29		0	0	0.001512	0	0
DOCK11	139818	broad.mit.edu	37	X	117731477	117731477	+	Missense_Mutation	SNP	C	T	T	rs138683152	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:117731477C>T	uc004eqp.2	+	20	2410	c.2347C>T	c.(2347-2349)Cca>Tca	p.P783S	DOCK11_uc004eqq.2_Missense_Mutation_p.P549S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	783	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAATCTTCCCCCAGGCTACTT	0.403000														4			31		0	0	0.0024448	0	0
UGT1A1	54658	broad.mit.edu	37	2	234580754	234580754	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:234580754C>T	uc002vus.3	+	0	211	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Silent_p.V58V	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	60					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGGTTGTAGTCATGCCAGAGG	0.522000														43			42		0	0	0.00170553	0	0
TPRA1	131601	broad.mit.edu	37	3	127294631	127294631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:127294631G>A	uc003ejn.2	-	7	964	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	TPRA1_uc003ejl.2_Missense_Mutation_p.L211F|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejm.3_Intron	NM_001136053	NP_057456	Q86W33	TPRA1_HUMAN	Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA.	211					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GTCTTGGGAAGGATGACCACC	0.647000														48			34		0	0	0.00195071	0	0
DENND1B	163486	broad.mit.edu	37	1	197479641	197479641	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:197479641G>A	uc021pgu.1	-	22	2615	c.2277C>T	c.(2275-2277)ttC>ttT	p.F759F	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AGCTTTGTTGGAAGTCAGATG	0.373000														42			25		0	0	0.00278032	0	0
C5AR1	728	broad.mit.edu	37	19	47823206	47823206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:47823206G>A	uc002pgj.1	+	1	221	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	58					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CAATGCCCTGGTGGTCTGGGT	0.582000														33			24		0	0	0.00127121	0	0
PON1	5444	broad.mit.edu	37	7	94928282	94928282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:94928282G>A	uc003uns.3	-	8	1139	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	PON1_uc011kih.2_Missense_Mutation_p.H348Y	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	348					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGAGCTTTGTGAAACACTGTG	0.463000														90			17		0	0	0.00074312	0	0
SGSM1	129049	broad.mit.edu	37	22	25280142	25280142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:25280142G>A	uc003abg.2	+	15	1940	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	SGSM1_uc010guu.1_Missense_Mutation_p.E540K|SGSM1_uc003abh.2_Missense_Mutation_p.E595K|SGSM1_uc003abj.2_Missense_Mutation_p.E540K|SGSM1_uc003abi.1_Missense_Mutation_p.E515K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	595						Golgi apparatus	Rab GTPase activator activity	p.E540K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAGGATCTGGGAGCAGTACCT	0.552000														37			19		0	0	0.00152264	0	0
SOBP	55084	broad.mit.edu	37	6	107955662	107955662	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:107955662C>T	uc003prx.3	+	5	2118	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	538	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TGCCCATCCCCATCCCCATCC	0.667000														2			17		0	0	0.000958276	0	0
CLDN2	9075	broad.mit.edu	37	X	106171786	106171786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:106171786G>A	uc022ccd.1	+	0	328	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Missense_Mutation_p.E110K|CLDN2_uc022ccc.1_Missense_Mutation_p.E110K|CLDN2_uc004emt.2_Missense_Mutation_p.E110K	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	110					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						CTTCTGCCAGGAATCCCGAGC	0.547000														4			38		0	0	0.00170553	0	0
FZD2	2535	broad.mit.edu	37	17	42636136	42636136	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:42636136G>A	uc002igx.2	+	0	1325	c.1080G>A	c.(1078-1080)tgG>tgA	p.W360*		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	360					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCATGAAGTGGGGCCACGAGG	0.622000														34			50		0	0	0.00361006	0	0
PBRM1	55193	broad.mit.edu	37	3	52582135	52582135	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:52582135A>T	uc003des.2	-	29	5026	c.5014T>A	c.(5014-5016)Ttg>Atg	p.L1672M	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.L1565M|PBRM1_uc003der.2_Missense_Mutation_p.L1585M|PBRM1_uc003det.2_Missense_Mutation_p.L1580M|PBRM1_uc003deu.2_Missense_Mutation_p.L1635M|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.L1617M|PBRM1_uc010hmk.1_Missense_Mutation_p.L1592M|PBRM1_uc003dey.2_Missense_Mutation_p.L1565M	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1672					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGGAGCATCAAATCTCGAAGG	0.478000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									16			79		0	0	0.00361006	0	0
ZNF423	23090	broad.mit.edu	37	16	49671869	49671869	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:49671869C>T	uc002efs.3	-	4	1492	c.1194G>A	c.(1192-1194)cgG>cgA	p.R398R	ZNF423_uc010vgn.2_Silent_p.R281R	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	398					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R398W(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCCGTCATCCCGCATCTTCT	0.632000														30			10		0	0	0.000978159	0	0
SCML1	6322	broad.mit.edu	37	X	17768160	17768160	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:17768160C>T	uc004cyb.3	+	5	775	c.450C>T	c.(448-450)tcC>tcT	p.S150S	SCML1_uc004cyc.3_Silent_p.S123S|SCML1_uc004cyd.3_Silent_p.S29S|SCML1_uc004cye.3_Silent_p.S29S	NM_001037540	NP_001032625	Q9UN30	SCML1_HUMAN	Homo sapiens sex comb on midleg-like 1 (Drosophila) (SCML1), transcript variant 1, mRNA.	150					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D150E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AGAATAATTCCCCGAGCAACC	0.498000														5			61		0	0	0.00361006	0	0
BAI2	576	broad.mit.edu	37	1	32207543	32207543	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:32207543C>T	uc001btn.3	-	8	1797	c.1443G>A	c.(1441-1443)tgG>tgA	p.W481*	BAI2_uc010ogo.2_Nonsense_Mutation_p.W123*|BAI2_uc010ogp.2_Nonsense_Mutation_p.W414*|BAI2_uc010ogq.2_Nonsense_Mutation_p.W481*|BAI2_uc001bto.3_Nonsense_Mutation_p.W481*|BAI2_uc001btq.1_Nonsense_Mutation_p.W414*|BAI2_uc010ogr.1_Nonsense_Mutation_p.W414*	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	481	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCCACGCATTCCATGGCCCCC	0.642000														29			57		0	0	0.00361006	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486500	76486500	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:76486500G>A	uc002fex.1	+	6	1315	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	CNTNAP4_uc002feu.1_Silent_p.E388E|CNTNAP4_uc002fev.1_Silent_p.E253E|CNTNAP4_uc010chb.1_Silent_p.E316E|CNTNAP4_uc002few.2_Silent_p.E364E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	389					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCTCTGGAGAGGAGGAGGTTT	0.463000														74			16		0	0	0.000422831	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29908237	29908237	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:29908237G>A	uc010vec.2	-	2	662	c.417C>T	c.(415-417)tcC>tcT	p.S139S	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Intron|SEZ6L2_uc002dur.4_Intron|SEZ6L2_uc002duq.4_Silent_p.S139S|SEZ6L2_uc010ved.2_Silent_p.S95S|SEZ6L2_uc002dus.4_Silent_p.S139S	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	139	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.S139F(1)		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						GAGGCCCTGGGGAGGCAGGGC	0.687000														36			8		0	0	0.000442599	0	0
PROKR1	10887	broad.mit.edu	37	2	68872977	68872977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:68872977G>A	uc010yqj.2	+	0	184	c.24G>A	c.(22-24)atG>atA	p.M8I	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	8						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGGGTTCATGGATGACAATG	0.547000														65			49		0	0	0.00361006	0	0
MEFV	4210	broad.mit.edu	37	16	3304424	3304424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3304424C>T	uc002cun.1	-	1	684	c.644G>A	c.(643-645)gGg>gAg	p.G215E	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	215					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCCCGCCAGCCCCTGCAGCCT	0.711000														12			24		0	0	0.00332997	0	0
ZNF488	118738	broad.mit.edu	37	10	48371305	48371305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:48371305C>T	uc001jex.3	+	1	935	c.773C>T	c.(772-774)tCg>tTg	p.S258L	ZNF488_uc021ppx.1_Missense_Mutation_p.S258L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TCCACCACTTCGTGGGCCCTC	0.612000														19			34		0	0	0.00283554	0	0
SLIT3	6586	broad.mit.edu	37	5	168671773	168671773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:168671773C>T	uc010jjg.3	-	2	697	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	SLIT3_uc003mab.3_Missense_Mutation_p.E93K|SLIT3_uc010jji.2_Missense_Mutation_p.E93K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	93					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTTGTCTTCCAGATGCCTA	0.517000														25			10		0	0	0.00244969	0	0
MBD5	55777	broad.mit.edu	37	2	149243398	149243398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:149243398C>T	uc002twm.4	+	10	3930	c.2933C>T	c.(2932-2934)cCa>cTa	p.P978L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Missense_Mutation_p.P236L|MBD5_uc002twp.3_Missense_Mutation_p.P28L	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	978						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATGTTTCCTCCAAATCAGCAA	0.433000														41			36		0	0	0.000953801	0	0
LTBP1	4052	broad.mit.edu	37	2	33468816	33468816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:33468816G>A	uc021vft.1	+	9	1987	c.1964G>A	c.(1963-1965)gGa>gAa	p.G655E	LTBP1_uc002rou.3_Missense_Mutation_p.G329E|LTBP1_uc002rov.3_Missense_Mutation_p.G329E|LTBP1_uc010ymz.2_Missense_Mutation_p.G329E|LTBP1_uc010yna.2_Missense_Mutation_p.G329E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	655	EGF-like 3; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCAAAATAGGATTTGGGCCG	0.383000														32			57		0	0	0.00361006	0	0
RNF113B	140432	broad.mit.edu	37	13	98829361	98829361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:98829361C>T	uc001vnk.3	-	0	161	c.130G>A	c.(130-132)Gga>Aga	p.G44R	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	44							nucleic acid binding|zinc ion binding	p.H43Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CTGCTCTCTCCGTGCTCGGGG	0.692000														21			10		0	0	0.000442599	0	0
SEPHS1	22929	broad.mit.edu	37	10	13380726	13380726	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:13380726G>A	uc001imk.3	-	2	653	c.276C>T	c.(274-276)atC>atT	p.I92I	SEPHS1_uc001imh.3_5'Flank|SEPHS1_uc010qbs.2_Silent_p.I44I|SEPHS1_uc010qbt.2_Silent_p.I25I|SEPHS1_uc021pnc.1_Silent_p.I92I|SEPHS1_uc021pnd.1_Silent_p.I92I|SEPHS1_uc009xje.3_Silent_p.I92I	NM_012247	NP_001182531	P49903	SPS1_HUMAN	Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript variant 1, mRNA.	92					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						GGTCGTCTACGATCGGGTAAA	0.463000														79			31		0	0	0.00327116	0	0
CYFIP1	23191	broad.mit.edu	37	15	22999452	22999452	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:22999452C>T	uc001yus.3	+	28	3428	c.3324C>T	c.(3322-3324)atC>atT	p.I1108I	CYFIP1_uc001yut.3_Silent_p.I1108I|CYFIP1_uc001yuu.3_Silent_p.I677I|CYFIP1_uc001yuv.3_Silent_p.I302I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	1108					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGACCCCATCTGGCGCGGGC	0.587000														34			22		0	0	0.00278032	0	0
ROR2	4920	broad.mit.edu	37	9	94499761	94499762	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:94499761_94499762CC>TT	uc004arj.2	-	4	732_733	c.533_534GG>AA	c.(532-534)cgg>cAA	p.R178Q	ROR2_uc004ari.1_Missense_Mutation_p.R38Q|ROR2_uc004ark.3_Missense_Mutation_p.R178Q	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	178	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			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						AGGCAATTCCCCGGTAAGGCTG	0.530000														5			35		0	0	6.4e-05	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171024	207171024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:207171024C>T	uc002vbp.2	+	4	2022	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	591							nucleic acid binding|zinc ion binding	p.E590G(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTCTTGAGTCAGTAGTTGAT	0.403000														22			15		0	0	0.00316338	0	0
RNF17	56163	broad.mit.edu	37	13	25370433	25370433	+	Splice_Site	SNP	G	A	A	rs9581180		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25370433G>A	uc001upr.3	+	11	1440	c.1399_splice	c.e11+1	p.G467_splice	RNF17_uc010tdd.1_Splice_Site_p.G326_splice|RNF17_uc010tde.2_Splice_Site_p.G467_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.G406_splice|RNF17_uc001upq.1_Splice_Site	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	467			G -> S (in dbSNP:rs9581180).		multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTGGAACTAGGTAATGAAAT	0.303000														26			46		0	0	0.00361006	0	0
CPN1	1369	broad.mit.edu	37	10	101835787	101835787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:101835787C>T	uc001kql.2	-	1	561	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	101	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S100L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CACAGAAACTCCGACAGCTGC	0.577000														14			40		0	0	0.00195071	0	0
MYO18B	84700	broad.mit.edu	37	22	26423593	26423593	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:26423593G>A	uc003abz.1	+	42	7903	c.7653G>A	c.(7651-7653)ggG>ggA	p.G2551G	MYO18B_uc003aca.1_Silent_p.G2432G|MYO18B_uc010guy.1_Silent_p.G2433G|MYO18B_uc010guz.1_Silent_p.G2431G|MYO18B_uc011aka.1_Silent_p.G1705G|MYO18B_uc011akb.1_Silent_p.G2064G|MYO18B_uc010gva.1_Silent_p.G534G|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2551						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGGACGGGGAGGAAAGACG	0.547000														22			19		0	0	0.00121646	0	0
EMBP1	647121	broad.mit.edu	37	1	121306532	121306532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:121306532G>A	uc009wht.1	+	0	109	c.80G>A	c.(79-81)gGa>gAa	p.G27E	EMBP1_uc001eiu.1_Non-coding_Transcript					Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		GAAGATGGGGGATTTTACTGG	0.403000														40			11		0	0	0.00185496	0	0
FAM123C	205147	broad.mit.edu	37	2	131519766	131519766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:131519766C>T	uc021voy.1	+	0	121	c.121C>T	c.(121-123)Cca>Tca	p.P41S	FAM123C_uc002trw.2_Missense_Mutation_p.P41S|FAM123C_uc010fmv.2_Missense_Mutation_p.P41S|FAM123C_uc010fms.1_Missense_Mutation_p.P41S|FAM123C_uc010fmt.1_Missense_Mutation_p.P41S|FAM123C_uc010fmu.1_Missense_Mutation_p.P41S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	41										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GTCAGTCCTTCCAGGAGGGCA	0.647000														8			4		0	0	0.000602214	0	0
CCDC11	220136	broad.mit.edu	37	18	47777253	47777253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:47777253C>T	uc002lee.2	-	4	962	c.871G>A	c.(871-873)Gcc>Acc	p.A291T		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	291										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTGTAGGGCTTTTTGCAAA	0.418000														141			120		0	0	0.00361006	0	0
HIC2	23119	broad.mit.edu	37	22	21800468	21800468	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:21800468G>A	uc002zur.4	+	2	1514	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	HIC2_uc002zus.4_Silent_p.R428R	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	428					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACATGTACCGGCAGGAGGGCT	0.632000														55			16		0	0	0.00121646	0	0
PDE2A	5138	broad.mit.edu	37	11	72290592	72290592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:72290592G>A	uc010rrc.2	-	25	2488	c.2242C>T	c.(2242-2244)Cat>Tat	p.H748Y	PDE2A_uc001oso.3_Missense_Mutation_p.H727Y|PDE2A_uc010rra.2_Missense_Mutation_p.H741Y|PDE2A_uc001osn.3_Missense_Mutation_p.H492Y|PDE2A_uc010rrb.2_Missense_Mutation_p.H739Y|PDE2A_uc010rrd.2_Missense_Mutation_p.H633Y	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	748	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGGGAGAAATGATCAAAGATG	0.622000														86			34		0	0	0.000953801	0	0
CYFIP2	26999	broad.mit.edu	37	5	156817610	156817610	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:156817610C>T	uc021ygm.1	+	29	3663	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	CYFIP2_uc011ddn.2_Silent_p.F1150F|CYFIP2_uc011ddo.2_Silent_p.F980F|CYFIP2_uc021ygn.1_Silent_p.F1175F|CYFIP2_uc021ygo.1_Silent_p.F1175F|CYFIP2_uc003lwt.3_Silent_p.F1079F|CYFIP2_uc011ddp.2_Silent_p.F910F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1201					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)			TTGACCTGTTCGACTTCTGTT	0.567000														220			109		0	0	0.00361006	0	0
CLPTM1	1209	broad.mit.edu	37	19	45495627	45495627	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:45495627C>T	uc002pai.3	+	12	1746	c.1692C>T	c.(1690-1692)ccC>ccT	p.P564P	CLPTM1_uc010xxf.2_Silent_p.P462P|CLPTM1_uc010xxg.2_Silent_p.P550P|CLPTM1_uc021uvo.1_Silent_p.P42P	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	564					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.P564P(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCAAGATGCCCGTTATGTACC	0.622000														149			130		0	0	0.00361006	0	0
SCMH1	22955	broad.mit.edu	37	1	41608760	41608760	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:41608760A>G	uc001cgo.3	-	5	541	c.172T>C	c.(172-174)Ttc>Ctc	p.F58L	SCMH1_uc010ojr.2_Missense_Mutation_p.F11L|SCMH1_uc001cgp.3_5'UTR|SCMH1_uc001cgr.3_5'UTR|SCMH1_uc001cgq.3_Missense_Mutation_p.F11L|SCMH1_uc001cgs.3_Missense_Mutation_p.F68L|SCMH1_uc001cgt.3_5'UTR|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	58					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTGATCTTGAACTCGTTGCTT	0.473000														43			84		0	0	0.00361006	0	0
MYBPC2	4606	broad.mit.edu	37	19	50938457	50938457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50938457G>A	uc002psf.2	+	1	110	c.59G>A	c.(58-60)gGa>gAa	p.G20E		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	20					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCCCCCAAAGGAGCCCCCAAG	0.617000														6			6		0	0	0.00307968	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417987	17417988	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:17417987_17417988CC>TT	uc011kye.2	+	8	1617_1618	c.1569_1570CC>TT	c.(1567-1572)tccctt>tcTTtt	p.L524F	SLC7A2_uc011kyc.2_Missense_Mutation_p.L484F|SLC7A2_uc011kyd.2_Missense_Mutation_p.L523F	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	484					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGCCCCTCCCTTCTGCCAAC	0.535000														67			18		0	0	6.4e-05	0	0
LMNA	4000	broad.mit.edu	37	1	156105073	156105073	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:156105073C>T	uc001fni.2	+	4	1155	c.906C>T	c.(904-906)ctC>ctT	p.L302L	LMNA_uc001fnf.1_Silent_p.L302L|LMNA_uc001fng.2_Silent_p.L302L|LMNA_uc001fnh.2_Silent_p.L302L|LMNA_uc009wro.1_Silent_p.L302L|LMNA_uc010pgz.1_Silent_p.L190L|LMNA_uc001fnj.2_Silent_p.L221L|LMNA_uc001fnk.2_Silent_p.L203L|LMNA_uc009wrp.3_Missense_Mutation_p.S30F|LMNA_uc010pha.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	302	Coil 2.|Rod.		L -> P (in MDCL).		cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TCGACAGCCTCTCTGCCCAGC	0.652000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					44			40		0	0	0.00170553	0	0
BCL11B	64919	broad.mit.edu	37	14	99641447	99641447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:99641447C>T	uc001yga.3	-	3	1993	c.1726G>A	c.(1726-1728)Gtc>Atc	p.V576I	BCL11B_uc001ygb.3_Missense_Mutation_p.V505I	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	576	Gly-rich.					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)		gcgcccgggaccccgggcACC	0.716000			T	TLX3	T-ALL									12			7		0	0	0.00307968	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444611	82444611	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:82444611G>A	uc002bgt.1	-	17	2353	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	EFTUD1_uc002bgu.1_Silent_p.I677I	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	728					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCCTTCAGGGATTTTGCTTT	0.433000														114			54		0	0	0.00361006	0	0
ATE1	11101	broad.mit.edu	37	10	123600660	123600660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:123600660G>A	uc001lfp.3	-	8	1176	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F	ATE1_uc001lfq.3_Missense_Mutation_p.S365F|ATE1_uc010qtr.2_Missense_Mutation_p.S250F|ATE1_uc010qts.2_Missense_Mutation_p.S269F|ATE1_uc010qtt.2_Missense_Mutation_p.S358F|ATE1_uc001lfr.3_Missense_Mutation_p.S66F|ATE1_uc009xzu.3_Non-coding_Transcript	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	365					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CAAATACACAGATGATACACA	0.453000														1			5		0	0	0.000602214	0	0
HPN	3249	broad.mit.edu	37	19	35551533	35551533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:35551533G>A	uc002nxq.2	+	9	868	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	HPN_uc002nxr.2_Missense_Mutation_p.R208Q|HPN_uc010xsh.1_Missense_Mutation_p.R177Q|HPN_uc002nxt.1_Missense_Mutation_p.R92Q|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	208	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)	CCTGGTAGGCGGAACCGGGTC	0.692000														24			18		0	0	0.00188189	0	0
ZNF592	9640	broad.mit.edu	37	15	85326229	85326229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:85326229G>A	uc002bld.3	+	3	659	c.323G>A	c.(322-324)gGg>gAg	p.G108E	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	108					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACAACTGTGGGAAATTTGAT	0.507000														37			42		0	0	0.00170553	0	0
RDH8	50700	broad.mit.edu	37	19	10132293	10132293	+	Silent	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:10132293A>G	uc002mmr.3	+	5	1053	c.804A>G	c.(802-804)aaA>aaG	p.K268K		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	268					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCACGCTCAAAACCGTGGATT	0.612000														26			23		0	0	0.00188189	0	0
APOL5	80831	broad.mit.edu	37	22	36116701	36116701	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:36116701C>T	uc003aof.3	+	2	142	c.142_splice	c.e2+1	p.P48_splice		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	48					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						acctgagttccgtgagggcag	0.498000														25			22		0	0	0.00188189	0	0
ANK2	287	broad.mit.edu	37	4	114276414	114276414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:114276414C>T	uc003ibe.4	+	37	6740	c.6640C>T	c.(6640-6642)Ccg>Tcg	p.P2214S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P2229S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2181					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCCGGCTCTCCGTGTGGCAG	0.517000														43			36		0	0	0.00128727	0	0
SCN1B	6324	broad.mit.edu	37	19	35530543	35530543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:35530543G>A	uc002nxp.3	+	4	728	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	SCN1B_uc010xsg.2_Missense_Mutation_p.E128K|HPN_uc002nxq.2_5'Flank|HPN_uc002nxr.2_5'Flank	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant a, mRNA.	199					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACAGCTCGGAATACCTGGC	0.622000														16			9		0	0	0.000673444	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053780	95053780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95053780G>A	uc001ydm.2	+	2	291	c.81G>A	c.(79-81)atG>atA	p.M27I	SERPINA5_uc010ave.2_Missense_Mutation_p.M27I|SERPINA5_uc001ydn.1_Missense_Mutation_p.M27I	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	27					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.M27I(2)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCCGGGAGATGAAGAAGAGAG	0.612000														58			29		0	0	0.00127121	0	0
MICALL2	79778	broad.mit.edu	37	7	1482056	1482056	+	Missense_Mutation	SNP	G	A	A	rs148942886		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:1482056G>A	uc003skj.4	-	6	1630	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	MICALL2_uc003ski.4_5'UTR	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	495						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTGGCTAAGGGACTTGCTTGT	0.607000														168			87		0	0	0.00361006	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987171	7987171	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:7987171G>A	uc002miw.2	+	3	682	c.624G>A	c.(622-624)aaG>aaA	p.K208K	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	208					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						ACTTTGAGAAGATCTACAAGT	0.592000														64			27		0	0	0.00178596	0	0
CR1L	1379	broad.mit.edu	37	1	207851592	207851592	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:207851592G>A	uc001hga.4	+	2	448	c.327G>A	c.(325-327)gtG>gtA	p.V109V	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	109	Sushi 2.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGCACATGTGATCAAAGACA	0.388000														40			54		0	0	0.00361006	0	0
PAK1	5058	broad.mit.edu	37	11	77066759	77066759	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:77066759C>T	uc001oyh.4	-	6	1259	c.726G>A	c.(724-726)caG>caA	p.Q242Q	PAK1_uc010rso.2_Silent_p.Q144Q|PAK1_uc001oyg.4_Silent_p.Q242Q|PAK1_uc001oyi.1_Silent_p.Q242Q|PAK1_uc010rsn.2_Intron	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	242	Interaction with CRIPAK.				ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GCTTCTTCTTCTGCTTCTCAG	0.438000														55			69		0	0	0.00361006	0	0
ABCC10	89845	broad.mit.edu	37	6	43412958	43412958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43412958C>T	uc003ouy.1	+	13	3151	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	ABCC10_uc003ouz.1_Missense_Mutation_p.S951F|ABCC10_uc010jyo.1_Missense_Mutation_p.S85F	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	979	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGTGTAAATTCCCTCTGCACC	0.587000														43			33		0	0	0.000814825	0	0
CLGN	1047	broad.mit.edu	37	4	141315165	141315165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:141315165G>A	uc011chi.2	-	11	1398	c.1180C>T	c.(1180-1182)Cca>Tca	p.P394S	CLGN_uc003iii.3_Missense_Mutation_p.P394S	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	394					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AAATAATCTGGATTAGGAATT	0.328000														21			13		0	0	0.00185496	0	0
C11orf80	79703	broad.mit.edu	37	11	66571646	66571646	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:66571646G>A	uc021qmd.1	+	8	1030	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	C11orf80_uc010rpk.2_Silent_p.R176R	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	186										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AGCTTAACAGGATTTCTTCAG	0.428000														21			17		0	0	0.000422831	0	0
SAMD9	54809	broad.mit.edu	37	7	92731876	92731876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:92731876C>T	uc003umf.3	-	2	3805	c.3535G>A	c.(3535-3537)Gaa>Aaa	p.E1179K	SAMD9_uc003umg.3_Missense_Mutation_p.E1179K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1179K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1179						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACAATCTTTCCTTCACTTCA	0.373000														66			179		0	0	0.00361006	0	0
SERPINA3	12	broad.mit.edu	37	14	95081243	95081243	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95081243G>A	uc001ydp.3	+	1	624	c.465G>A	c.(463-465)gaG>gaA	p.E155E	SERPINA3_uc001ydo.4_Silent_p.E180E|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.E155E|SERPINA3_uc001yds.3_Silent_p.E155E	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	155					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGTTCACGGAGGATGCCAAGA	0.522000														31			36		0	0	0.00283554	0	0
SCN1A	6323	broad.mit.edu	37	2	166901655	166901655	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:166901655G>A	uc002udo.4	-	11	1787	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	SCN1A_uc010fpk.3_Silent_p.F520F|SCN1A_uc021vsb.1_Silent_p.F520F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	520						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGATTTTTGGAATTCATCCT	0.438000														119			95		0	0	0.00361006	0	0
ARID1A	8289	broad.mit.edu	37	1	27100350	27100350	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:27100350C>T	uc001bmv.1	+	16	4435	c.4062C>T	c.(4060-4062)ttC>ttT	p.F1354F	ARID1A_uc001bmt.1_Silent_p.F1353F|ARID1A_uc001bmu.1_Silent_p.F1354F|ARID1A_uc001bmw.1_Silent_p.F971F|ARID1A_uc001bmx.1_Silent_p.F200F|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1354	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCCCCTTCCCCAGCCAGC	0.522000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									91			156		0	0	0.00361006	0	0
EPHB4	2050	broad.mit.edu	37	7	100417782	100417782	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100417782G>A	uc003uwn.1	-	4	1436	c.945C>T	c.(943-945)ccC>ccT	p.P315P	EPHB4_uc003uwm.1_Silent_p.P222P|EPHB4_uc010lhj.1_Silent_p.P315P|EPHB4_uc011kkf.1_Silent_p.P315P|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Silent_p.P315P	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	315	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGCACCCCGGGGGTCTGTGC	0.637000														30			92		0	0	0.00361006	0	0
HCG27	253018	broad.mit.edu	37	6	31170627	31170627	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31170627C>T	uc011dni.2	+	1		c.602C>T								Homo sapiens HLA complex group 27 (non-protein coding) (HCG27), non-coding RNA.																		TGCCCCATCCCCAGGCTCTGG	0.532000														52			56		0	0	0.00361006	0	0
DNAH10	196385	broad.mit.edu	37	12	124270395	124270395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:124270395G>A	uc001uft.4	+	8	1175	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	384	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTACAACAAAGACGAGAGGAT	0.562000														29			47		0	0	0.00361006	0	0
FAM125B	89853	broad.mit.edu	37	9	129154430	129154430	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:129154430C>T	uc004bqh.2	+	4	581	c.495C>T	c.(493-495)atC>atT	p.I165I	FAM125B_uc004bqg.2_Silent_p.I165I|FAM125B_uc011lzy.2_Silent_p.I150I|FAM125B_uc010mxd.3_Silent_p.I158I|FAM125B_uc011lzz.1_Silent_p.I158I	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	165	MABP.				protein transport	late endosome membrane		p.R164L(1)		kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						ACATTCGGATCATGGGCCGGA	0.502000														10			72		0	0	0.00361006	0	0
ATP1A3	478	broad.mit.edu	37	19	42474558	42474558	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:42474558G>A	uc002osh.3	-	16	2554	c.2400C>T	c.(2398-2400)atC>atT	p.I800I	ATP1A3_uc010xwf.2_Silent_p.I811I|ATP1A3_uc010xwg.2_Silent_p.I770I|ATP1A3_uc002osg.3_Silent_p.I800I|ATP1A3_uc010xwh.2_Silent_p.I813I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	800					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGCCCAGATCGATGCAGAGGA	0.647000														14			15		0	0	0.000422831	0	0
TBX2	6909	broad.mit.edu	37	17	59481989	59481989	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:59481989C>T	uc010wox.2	+	4	1191	c.910C>T	c.(910-912)Cta>Tta	p.L304L	TBX2_uc002ize.3_Silent_p.L294L|TBX2_uc002izg.3_Silent_p.L150L	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	304					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GCTGCCGTCTCTACGCTTGTA	0.697000														8			5		0	0	0.00198382	0	0
PPM1H	57460	broad.mit.edu	37	12	63195772	63195772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:63195772C>T	uc001srk.3	-	2	729	c.580G>A	c.(580-582)Gag>Aag	p.E194K		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	194	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCAGGCTCCTCCCCCAGGCAG	0.716000														57			28		0	0	0.00209593	0	0
CACNA1S	779	broad.mit.edu	37	1	201060870	201060870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:201060870G>A	uc001gvv.3	-	4	819	c.592C>T	c.(592-594)Cac>Tac	p.H198Y		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	198					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGGCGATGTGAAAGAGGGGG	0.552000														20			11		0	0	0.00136819	0	0
C15orf55	256646	broad.mit.edu	37	15	34640841	34640841	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34640841C>T	uc010ucc.2	+	2	1154	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	C15orf55_uc010ucd.2_Nonsense_Mutation_p.Q248*|C15orf55_uc001zif.3_Nonsense_Mutation_p.Q230*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	230						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GCACCTATCCCAGAGTCCTGA	0.483000			T	"""BRD3, BRD4"""	lethal midline carcinoma									51			41		0	0	0.00321405	0	0
CACNA1G	8913	broad.mit.edu	37	17	48668851	48668851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48668851C>T	uc002irk.1	+	10	2881	c.2509C>T	c.(2509-2511)Cgc>Tgc	p.R837C	CACNA1G_uc002iri.1_Missense_Mutation_p.R837C|CACNA1G_uc002irj.1_Missense_Mutation_p.R837C|CACNA1G_uc002irl.1_Missense_Mutation_p.R837C|CACNA1G_uc002irm.1_Missense_Mutation_p.R837C|CACNA1G_uc002irn.1_Missense_Mutation_p.R837C|CACNA1G_uc002iro.1_Missense_Mutation_p.R837C|CACNA1G_uc002irp.1_Missense_Mutation_p.R837C|CACNA1G_uc002irq.1_Missense_Mutation_p.R837C|CACNA1G_uc002irr.1_Missense_Mutation_p.R837C|CACNA1G_uc002irs.1_Missense_Mutation_p.R837C|CACNA1G_uc002irt.1_Missense_Mutation_p.R837C|CACNA1G_uc002iru.1_Missense_Mutation_p.R837C|CACNA1G_uc002irv.1_Missense_Mutation_p.R837C|CACNA1G_uc002irw.1_Missense_Mutation_p.R837C|CACNA1G_uc002irx.1_Missense_Mutation_p.R750C|CACNA1G_uc002iry.1_Missense_Mutation_p.R750C|CACNA1G_uc002isg.1_Missense_Mutation_p.R750C|CACNA1G_uc002ish.1_Missense_Mutation_p.R750C|CACNA1G_uc002isi.1_Missense_Mutation_p.R750C|CACNA1G_uc002irz.1_Missense_Mutation_p.R750C|CACNA1G_uc002isa.1_Missense_Mutation_p.R750C|CACNA1G_uc002isd.1_Missense_Mutation_p.R750C|CACNA1G_uc002isb.1_Missense_Mutation_p.R750C|CACNA1G_uc002isc.1_Missense_Mutation_p.R750C|CACNA1G_uc002ise.1_Missense_Mutation_p.R750C|CACNA1G_uc002isf.1_Missense_Mutation_p.R750C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	837					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGGACCTTCCGCCTGATGCG	0.672000														6			7		0	0	0.00198382	0	0
IL21R	50615	broad.mit.edu	37	16	27460449	27460449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:27460449G>A	uc002dor.2	+	9	2076	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	IL21R_uc002doq.2_Missense_Mutation_p.D488N|IL21R_uc002dos.2_Missense_Mutation_p.D488N|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	488					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCTGGATATGGACACGTTTGA	0.672000			T	BCL6	NHL									38			14		0	0	0.00316338	0	0
PASD1	139135	broad.mit.edu	37	X	150832763	150832763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:150832763G>A	uc004fev.4	+	10	1346	c.1014G>A	c.(1012-1014)atG>atA	p.M338I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	338						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTGATGGATCCAGTGG	0.597000														0			24		0	0	0.00395357	0	0
TMEM74	157753	broad.mit.edu	37	8	109796737	109796737	+	Silent	SNP	G	A	A	rs139123399		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:109796737G>A	uc003ymy.1	-	1	696	c.591C>T	c.(589-591)atC>atT	p.I197I	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.I197I	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	197					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CCCGTGGGACGATGTAAGAGA	0.572000														71			30		0	0	0.00178596	0	0
KRT10	3858	broad.mit.edu	37	17	38975396	38975396	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:38975396C>A	uc002hvi.3	-	6	1417	c.1391G>T	c.(1390-1392)cGc>cTc	p.R464L	TMEM99_uc021txc.1_5'UTR|TMEM99_uc002hvj.1_5'UTR|TMEM99_uc021txd.1_5'Flank	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	464	Gly-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				tccgccgccgcgtccgccgcc	0.657000														6			7		2.0095e-06	5.82376e-06	0.00198382	1	0
COL22A1	169044	broad.mit.edu	37	8	139729076	139729076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139729076C>T	uc003yvd.3	-	27	2839	c.2392G>A	c.(2392-2394)Gga>Aga	p.G798R	COL22A1_uc011ljo.2_Missense_Mutation_p.G98R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	798	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P797H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTTCTCTCCAGGTCGGCCT	0.383000										HNSCC(7;0.00092)				35			57		0	0	0.00361006	0	0
FMO3	2328	broad.mit.edu	37	1	171073016	171073016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:171073016C>T	uc001ghi.3	+	2	334	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	FMO3_uc001ghh.3_Missense_Mutation_p.P75S|FMO3_uc010pmb.2_Missense_Mutation_p.P55S|FMO3_uc010pmc.2_Intron|MIR1295A_uc021pes.1_5'Flank	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	75					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCCCATTTCCCGATGACTT	0.423000														52			20		0	0	0.00188189	0	0
CNTRL	11064	broad.mit.edu	37	9	123914842	123914842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:123914842C>T	uc004bkx.1	+	23	4074	c.4043C>T	c.(4042-4044)tCc>tTc	p.S1348F	CNTRL_uc004bla.1_Missense_Mutation_p.S796F|CNTRL_uc010mvo.1_Missense_Mutation_p.S17F|CNTRL_uc004blb.1_Missense_Mutation_p.S17F	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1348					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGAGAGCATCCAAGCGGCAG	0.373000														9			51		0	0	0.00361006	0	0
RGS19	10287	broad.mit.edu	37	20	62705292	62705292	+	Silent	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62705292G>T	uc002yhy.3	-	5	835	c.568C>A	c.(568-570)Cgg>Agg	p.R190R	RGS19_uc002yhz.3_Silent_p.R168R|RGS19_uc002yib.3_Silent_p.R190R	NM_005873	NP_001034556	P49795	RGS19_HUMAN	Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA.	190	RGS.				G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TAGGAGTCCCGGTGCATGAGC	0.662000														132			6		1.12685e-05	3.26295e-05	0.000274275	1	0
SOX10	6663	broad.mit.edu	37	22	38370153	38370153	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:38370153C>A	uc003aun.1	-	3	1028	c.750G>T	c.(748-750)caG>caT	p.Q250H	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.Q250H	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	250						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCTTGCCCGACTGCAGCTCTG	0.647000														168			99		4.58075e-42	1.34716e-41	0.00361006	1	0
NLRP10	338322	broad.mit.edu	37	11	7981867	7981867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:7981867G>A	uc001mfv.1	-	1	1309	c.1292C>T	c.(1291-1293)gCt>gTt	p.A431V		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	431	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGAGCTCAGCTTCTTCAAA	0.527000														38			30		0	0	0.00283554	0	0
TMEM178	130733	broad.mit.edu	37	2	39944248	39944248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:39944248G>A	uc002rrt.3	+	3	831	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	TMEM178_uc021vgg.1_Missense_Mutation_p.E69K|TMEM178_uc010fam.2_Missense_Mutation_p.E205K	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	251						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				TGCTGATGTGGAACATGGTTA	0.483000														118			58		0	0	0.00361006	0	0
CHRM2	1129	broad.mit.edu	37	7	136700447	136700447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:136700447G>A	uc003vtf.1	+	3	1458	c.835G>A	c.(835-837)Gag>Aag	p.E279K	CHRM2_uc003vtg.1_Missense_Mutation_p.E279K|CHRM2_uc003vti.1_Missense_Mutation_p.E279K|CHRM2_uc003vtm.1_Missense_Mutation_p.E279K|CHRM2_uc003vtj.1_Missense_Mutation_p.E279K|CHRM2_uc003vtk.1_Missense_Mutation_p.E279K|CHRM2_uc003vtl.1_Missense_Mutation_p.E279K|CHRM2_uc003vtn.1_Missense_Mutation_p.E279K|CHRM2_uc003vto.1_Missense_Mutation_p.E279K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.E279K	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	279					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCAGGGAGAGGAGAAGGAGAG	0.488000														57			18		0	0	0.000958276	0	0
PTTG2	10744	broad.mit.edu	37	4	37962567	37962567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:37962567C>T	uc011bye.2	+	0	512	c.512C>T	c.(511-513)tCt>tTt	p.S171F	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	171					DNA metabolic process|chromosome organization	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						AAAATGCCCTCTCCACCATGG	0.488000														91			80		0	0	0.00361006	0	0
SNTG2	54221	broad.mit.edu	37	2	1168827	1168827	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1168827C>T	uc002qwq.3	+	7	678	c.549C>T	c.(547-549)ctC>ctT	p.L183L	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	183					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.L183L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTCTCCCCTCTTTGACAGCG	0.478000														65			86		0	0	0.00361006	0	0
GPR116	221395	broad.mit.edu	37	6	46851850	46851850	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:46851850A>C	uc003oyo.3	-	4	776	c.487T>G	c.(487-489)Ttt>Gtt	p.F163V	GPR116_uc003oyp.3_Missense_Mutation_p.F163V|GPR116_uc003oyq.3_Missense_Mutation_p.F163V|GPR116_uc003oyr.2_Missense_Mutation_p.F163V	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	163	SEA.				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)			AGCAGGCAAAAAGGTCCATTG	0.478000														98			53		0	0	0.00361006	0	0
TRIM25	7706	broad.mit.edu	37	17	54969117	54969117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:54969117G>A	uc002iut.3	-	8	1897	c.1837C>T	c.(1837-1839)Ccg>Tcg	p.P613S	TRIM25_uc010dcj.3_Missense_Mutation_p.P405S|TRIM25_uc021uaj.1_5'Flank	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	613	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CAGAAAGCCGGGTACAAAGCC	0.537000														20			6		0	0	0.00116845	0	0
SLC1A6	6511	broad.mit.edu	37	19	15067385	15067385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:15067385G>A	uc002naa.1	-	5	1079	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.L294F	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	358					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ATGAGGGGAAGGACAATGCCG	0.587000														15			7		0	0	0.00307968	0	0
CLCN1	1180	broad.mit.edu	37	7	143044022	143044022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143044022G>A	uc003wcr.1	+	19	2470	c.2383G>A	c.(2383-2385)Gat>Aat	p.D795N	CLCN1_uc011ktc.1_Missense_Mutation_p.D407N	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	795					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGATTTAGTGGATAACATGTC	0.398000														35			85		0	0	0.00361006	0	0
FMO1	2326	broad.mit.edu	37	1	171251243	171251243	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:171251243G>A	uc009wvz.3	+	6	1090	c.954G>A	c.(952-954)aaG>aaA	p.K318K	FMO1_uc010pme.2_Silent_p.K255K|FMO1_uc001ghl.3_Silent_p.K318K|FMO1_uc001ghm.3_Silent_p.K318K	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	318					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATACTTCAAAGGAAGAGCCTA	0.433000														55			25		0	0	0.00332997	0	0
KIAA0753	9851	broad.mit.edu	37	17	6511754	6511755	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:6511754_6511755GG>TT	uc002gde.4	-	9	2101_2102	c.1742_1743CC>AA	c.(1741-1743)ccc>cAA	p.P581Q	KIAA0753_uc010vtd.2_Missense_Mutation_p.P37Q|KIAA0753_uc010clo.3_Missense_Mutation_p.P282Q|KIAA0753_uc010vte.2_Missense_Mutation_p.P282Q	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	581						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGGCATCTCTGGGGCTAGTTTT	0.470000														579			14		0	0	6.4e-05	0	0
KIAA1324	57535	broad.mit.edu	37	1	109735476	109735476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:109735476C>T	uc021orb.1	+	13	2148	c.1927C>T	c.(1927-1929)Cca>Tca	p.P643S	KIAA1324_uc009wex.2_Missense_Mutation_p.P593S|KIAA1324_uc010ovg.2_Missense_Mutation_p.P541S|KIAA1324_uc009wey.3_Missense_Mutation_p.P556S|KIAA1324_uc001dwr.3_Missense_Mutation_p.P293S	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	643					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCCCTGTGGTCCAGGGACCAA	0.537000														93			150		0	0	0.00361006	0	0
ECT2	1894	broad.mit.edu	37	3	172482202	172482202	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:172482202C>T	uc003fii.2	+	10	1248	c.1110C>T	c.(1108-1110)ccC>ccT	p.P370P	ECT2_uc010hwv.1_Silent_p.P401P|ECT2_uc003fih.2_Silent_p.P369P|ECT2_uc003fij.1_Silent_p.P370P|ECT2_uc003fik.1_Silent_p.P370P|ECT2_uc003fil.1_Silent_p.P401P	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	370					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CATTTCCACCCCGTAAGCGCC	0.453000														53			33		0	0	0.00283554	0	0
CSMD2	114784	broad.mit.edu	37	1	34174710	34174710	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:34174710G>A	uc001bxm.1	-	21	3732	c.3555C>T	c.(3553-3555)ctC>ctT	p.L1185L	CSMD2_uc001bxn.1_Silent_p.L1145L|CSMD2_uc001bxo.1_Silent_p.L58L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1145	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCCTTCGGAGAGTTCGAATG	0.433000														44			74		0	0	0.00361006	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016764	33016764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:33016764G>A	uc010abe.1	-	6	1932	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	N4BP2L2_uc001uug.2_Missense_Mutation_p.S520F|N4BP2L2_uc010abd.1_Missense_Mutation_p.S550F|N4BP2L2_uc001uuh.2_Missense_Mutation_p.S468F|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.S622F	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AATTTCTGGAGAAATAAACCC	0.333000														15			32		0	0	0.0024448	0	0
COL27A1	85301	broad.mit.edu	37	9	117051536	117051536	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:117051536C>T	uc011lxl.2	+	44	4167	c.4167C>T	c.(4165-4167)ccC>ccT	p.P1389P	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1389	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATCCGGGACCCCGGGGGTGGC	0.677000														2			7		0	0	0.000274275	0	0
ELOVL7	79993	broad.mit.edu	37	5	60053414	60053414	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:60053414G>A	uc003jsi.4	-	7	758	c.558C>T	c.(556-558)tcC>tcT	p.S186S	ELOVL7_uc011cqo.2_Silent_p.S99S|ELOVL7_uc010iwk.3_Silent_p.S186S|ELOVL7_uc003jsj.4_Silent_p.S173S	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	186					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GTCCATAGTAGGAATACATGA	0.373000														31			24		0	0	0.00332997	0	0
PHF8	23133	broad.mit.edu	37	X	53966798	53966798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:53966798G>A	uc004dsu.3	-	20	3155	c.2909C>T	c.(2908-2910)cCc>cTc	p.P970L	PHF8_uc004dsv.3_Missense_Mutation_p.P800L|PHF8_uc004dst.3_Missense_Mutation_p.P934L|PHF8_uc004dsw.3_Missense_Mutation_p.P833L	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	970					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGGAGGCAGGGGTGAGGAGGA	0.582000														0			10		0	0	0.000978159	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060522	128060522	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:128060522G>A	uc003eki.3	+	4	1271	c.1233G>A	c.(1231-1233)tgG>tgA	p.W411*		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	411						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGCAGCAGTGGGCCCTGGTGG	0.602000														38			37		0	0	0.00111076	0	0
LSM14B	149986	broad.mit.edu	37	20	60701392	60701392	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:60701392C>T	uc010gjy.1	+	2	530	c.324C>T	c.(322-324)ttC>ttT	p.F108F	LSM14B_uc002ybt.2_Silent_p.F108F|LSM14B_uc010gjx.1_Silent_p.F134F|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	108					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCTCGCCCTTCCAGCCGCACG	0.672000														46			24		0	0	0.001512	0	0
CEP120	153241	broad.mit.edu	37	5	122758678	122758678	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:122758678G>A	uc003ktk.3	-	1	131	c.15C>T	c.(13-15)tcC>tcT	p.S5S	CEP120_uc010jcz.2_Intron|CEP120_uc011cwq.2_5'UTR	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	5						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GCAATTGGTCGGATTTGGAGA	0.607000														45			64		0	0	0.00361006	0	0
FCRL5	83416	broad.mit.edu	37	1	157514299	157514299	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:157514299G>A	uc009wsm.3	-	4	755	c.597C>T	c.(595-597)ttC>ttT	p.F199F	FCRL5_uc001fqu.3_Silent_p.F199F|FCRL5_uc010phv.1_Silent_p.F199F|FCRL5_uc010phw.1_Silent_p.F114F|FCRL5_uc001fqv.1_Silent_p.F199F|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	199	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGATGGGCTGGAAGGAGCTGG	0.552000														37			67		0	0	0.00361006	0	0
TMEM174	134288	broad.mit.edu	37	5	72469311	72469311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:72469311G>A	uc010izc.3	+	0	289	c.241G>A	c.(241-243)Gtt>Att	p.V81I		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	81						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CCTGCTGTCAGTTGGGGTGAC	0.532000														64			52		0	0	0.00361006	0	0
OR5M1	390168	broad.mit.edu	37	11	56380885	56380885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56380885G>A	uc001nja.1	-	0	94	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TAGATCGCAAGGAATACCCCA	0.483000														62			24		0	0	0.000720815	0	0
RTEL1	51750	broad.mit.edu	37	20	62316898	62316898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62316898C>T	uc021wge.1	+	13	1384	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.S405F|RTEL1_uc011abd.2_Missense_Mutation_p.S429F|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.S182F	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	405					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTGGACCCCTCCGAGGGCAGC	0.632000														39			20		0	0	0.00278032	0	0
BRD8	10902	broad.mit.edu	37	5	137481567	137481567	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:137481567C>T	uc003lcf.1	-	24	3334	c.3279_splice	c.e24-1	p.L1093_splice		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1093					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTAGATCAGTCCTATGAGGAT	0.418000														33			41		0	0	0.00195071	0	0
ABCC3	8714	broad.mit.edu	37	17	48735797	48735797	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48735797A>G	uc002isl.3	+	6	693	c.613_splice	c.e6-1	p.N205_splice	ABCC3_uc002isk.4_Splice_Site_p.N205_splice	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	205					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCCTTCTAGAACCCCTACCCT	0.582000														47			56		0	0	0.00361006	0	0
OR52K2	119774	broad.mit.edu	37	11	4471211	4471211	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:4471211C>T	uc001lyz.2	+	0	687	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGACCTGCTCCTTGTTATCC	0.488000														78			28		0	0	0.0024448	0	0
C2orf16	84226	broad.mit.edu	37	2	27803388	27803388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:27803388G>A	uc002rkz.4	+	0	4000	c.3949G>A	c.(3949-3951)Gaa>Aaa	p.E1317K	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1317										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTAGGGAATTAGCAGC	0.398000														41			19		0	0	0.00121646	0	0
OR1L4	254973	broad.mit.edu	37	9	125486328	125486328	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:125486328C>T	uc004bmu.1	+	0	60	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GCCTCTCTTCCAACCCTAAGC	0.507000														95			5		0	0	0.000978159	0	0
SLC30A8	169026	broad.mit.edu	37	8	118165314	118165314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:118165314G>A	uc003yoh.3	+	2	633	c.403G>A	c.(403-405)Gga>Aga	p.G135R	SLC30A8_uc010mcz.3_Missense_Mutation_p.G86R|SLC30A8_uc003yog.3_Missense_Mutation_p.G86R|SLC30A8_uc011lia.2_Missense_Mutation_p.G86R|SLC30A8_uc022bab.1_Missense_Mutation_p.G86R	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	135					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.F134F(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GCTGACATTTGGATGGCACCG	0.517000														252			108		0	0	0.00361006	0	0
OR4C3	256144	broad.mit.edu	37	11	48346987	48346987	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48346987C>T	uc010rhv.2	+	0	495	c.495C>T	c.(493-495)ctC>ctT	p.L165L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L165V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCAGGCATCTCTGTGCCATGC	0.537000														63			19		0	0	0.00121646	0	0
FRS2	10818	broad.mit.edu	37	12	69965954	69965954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:69965954G>A	uc001suy.3	+	8	979	c.469G>A	c.(469-471)Gga>Aga	p.G157R	FRS2_uc001suz.3_Missense_Mutation_p.G157R|FRS2_uc009zrj.3_Missense_Mutation_p.G157R|FRS2_uc009zrk.3_Missense_Mutation_p.G157R	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	157					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCCCTCATTTGGAGATGCTTC	0.493000														55			21		0	0	0.00121646	0	0
KIAA0355	9710	broad.mit.edu	37	19	34838929	34838929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:34838929C>T	uc002nvd.4	+	10	3528	c.2669C>T	c.(2668-2670)cCc>cTc	p.P890L		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	890										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TGGCCCTTCCCCGAGTTCTTC	0.657000														13			10		0	0	0.000673444	0	0
SFRP2	6423	broad.mit.edu	37	4	154709599	154709599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:154709599G>A	uc003inv.1	-	0	630	c.389C>T	c.(388-390)tCc>tTc	p.S130F		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	130	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GCCGAAGGCGGACATGACCGG	0.652000														9			26		0	0	0.000878237	0	0
KLK11	11012	broad.mit.edu	37	19	51527368	51527368	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51527368G>A	uc002pvd.1	-	3	604	c.492C>T	c.(490-492)tcC>tcT	p.S164S	KLK11_uc002pvc.4_Silent_p.S132S|KLK11_uc002pve.1_Silent_p.S21S|KLK11_uc002pvb.2_Silent_p.S157S|KLK11_uc002pvf.1_Silent_p.S132S|KLK11_uc010eom.3_3'UTR	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	164	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CACAGCGTGAGGAGAGGGTGA	0.622000														16			11		0	0	0.00136819	0	0
ATP12A	479	broad.mit.edu	37	13	25284612	25284612	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25284612G>A	uc010aaa.3	+	19	3129	c.2796G>A	c.(2794-2796)agG>agA	p.R932R	ATP12A_uc001upp.3_Silent_p.R926R	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	926					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGTACCAGAGGGAATACCTAG	0.453000														50			7		0	0	0.00307968	0	0
CHD3	1107	broad.mit.edu	37	17	7801392	7801392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7801392G>A	uc002gjd.2	+	11	2202	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K	CHD3_uc002gje.2_Missense_Mutation_p.E675K|CHD3_uc002gjf.2_Missense_Mutation_p.E675K|CHD3_uc002gjg.1_Missense_Mutation_p.E503K	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	675					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGAATACGAAGAACATAAGCA	0.438000														23			143		0	0	0.00361006	0	0
TMEM131	23505	broad.mit.edu	37	2	98409346	98409346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:98409346G>A	uc002syh.4	-	30	3876	c.3647C>T	c.(3646-3648)cCa>cTa	p.P1216L		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1216						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GTGGACCGATGGGCCACACTG	0.542000														21			12		0	0	0.000978159	0	0
MKX	283078	broad.mit.edu	37	10	28023391	28023391	+	Missense_Mutation	SNP	G	A	A	rs138096382		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:28023391G>A	uc001ity.4	-	4	1057	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	MKX_uc001itx.4_Missense_Mutation_p.R278C	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	278					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y277F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTACCTGTGCGATAGACAAAG	0.393000														22			41		0	0	0.0025221	0	0
NCOR1	9611	broad.mit.edu	37	17	16062165	16062165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:16062165G>A	uc002gpo.3	-	5	910	c.641C>T	c.(640-642)gCt>gTt	p.A214V	NCOR1_uc002gpn.3_Missense_Mutation_p.A214V|NCOR1_uc002gpp.1_Missense_Mutation_p.A105V|NCOR1_uc002gpr.3_Missense_Mutation_p.A105V|NCOR1_uc002gps.2_Missense_Mutation_p.A214V|NCOR1_uc010cpb.2_Missense_Mutation_p.A214V|NCOR1_uc010coz.2_Missense_Mutation_p.A30V|NCOR1_uc010cpa.2_Missense_Mutation_p.A214V	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	214	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGGAGGTTTAGCTGCCTCTTC	0.483000														5			27		0	0	0.000878237	0	0
SOAT1	6646	broad.mit.edu	37	1	179310213	179310213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:179310213C>T	uc001gml.3	+	6	779	c.548C>T	c.(547-549)aCc>aTc	p.T183I	SOAT1_uc010pni.2_Missense_Mutation_p.T118I|SOAT1_uc001gmm.3_Missense_Mutation_p.T125I|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.T118I	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	183					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AAATTTCCTACCGTTGTTTGG	0.423000														50			13		0	0	0.00136819	0	0
ATG7	10533	broad.mit.edu	37	3	11350518	11350518	+	Missense_Mutation	SNP	C	T	T	rs143294564		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:11350518C>T	uc003bwc.3	+	4	511	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	ATG7_uc003bwd.3_Missense_Mutation_p.L132F|ATG7_uc011aum.2_Missense_Mutation_p.L132F	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	132					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CAACAAGTTCCTCCTCTTGAC	0.473000														47			58		0	0	0.00361006	0	0
ODZ1	10178	broad.mit.edu	37	X	123839007	123839007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:123839007G>A	uc010nqy.3	-	4	935	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ODZ1_uc011muj.2_Missense_Mutation_p.P291S|ODZ1_uc004euj.3_Missense_Mutation_p.P291S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	291	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.S291S(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGCCTGGGAGGGGGCGAGTAC	0.527000														7			40		0	0	0.00222228	0	0
SLC17A8	246213	broad.mit.edu	37	12	100806590	100806590	+	Missense_Mutation	SNP	C	T	T	rs77232189		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:100806590C>T	uc010svi.2	+	9	1542	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	SLC17A8_uc009ztx.3_Missense_Mutation_p.S360L	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	410					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GTTGGCTTTTCGCATACCAAA	0.448000														52			70		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9048013	9048013	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9048013C>T	uc002mkp.3	-	4	33822	c.33618G>A	c.(33616-33618)ggG>ggA	p.G11206G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11208	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						AAGTCACCAGCCCTTGTACAG	0.478000														14			20		0	0	0.00152264	0	0
COL6A6	131873	broad.mit.edu	37	3	130300434	130300434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:130300434G>A	uc010htl.3	+	7	3608	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	COL6A6_uc003eni.4_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1193	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTGGGATTTGATGTCTCAAC	0.438000														85			56		0	0	0.00361006	0	0
DOCK2	1794	broad.mit.edu	37	5	169116293	169116293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:169116293C>T	uc003maf.3	+	8	879	c.799C>T	c.(799-801)Cct>Tct	p.P267S	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	267					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.P267R(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGGGCTTCCCTAAGGAGAT	0.522000														21			26		0	0	0.00327116	0	0
MYO9B	4650	broad.mit.edu	37	19	17212990	17212990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:17212990C>T	uc010eak.3	+	1	615	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	MYO9B_uc002nfi.3_Missense_Mutation_p.P155S|MYO9B_uc002nfj.1_Missense_Mutation_p.P155S	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	155	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTGTAACCTCCCCGAGCTAAC	0.622000														31			50		0	0	0.00361006	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572680	38572680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38572680C>T	uc002ohk.3	+	2	984	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	159					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCCCGGTCCCCCGGCAGGGC	0.711000														21			22		0	0	0.00278032	0	0
GALNT13	114805	broad.mit.edu	37	2	154801055	154801055	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:154801055G>A	uc002tyt.4	+	0	149	c.45G>A	c.(43-45)ctG>ctA	p.L15L	GALNT13_uc002tyr.4_Silent_p.L15L	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	15						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S14*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCACTTCGCTGATGTGGGTTC	0.418000														72			67		0	0	0.00361006	0	0
AMPD2	271	broad.mit.edu	37	1	110163645	110163645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:110163645C>T	uc009wfh.1	+	1	552	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Missense_Mutation_p.R4C|AMPD2_uc010ovr.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	4					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.R4S(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATGAGAAATCGTGGCCAGGG	0.652000														5			21		0	0	0.000720815	0	0
GLT25D2	23127	broad.mit.edu	37	1	183914630	183914630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:183914630G>A	uc001gqr.3	-	8	1577	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	GLT25D2_uc010poj.1_Missense_Mutation_p.S402F|GLT25D2_uc001gqp.3_Missense_Mutation_p.S10F|GLT25D2_uc001gqq.3_Missense_Mutation_p.S139F|GLT25D2_uc001gqs.3_Missense_Mutation_p.S282F	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	402					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						AGGCCTGGAGGAATAGGGATC	0.448000														107			50		0	0	0.00361006	0	0
RPUSD2	27079	broad.mit.edu	37	15	40865983	40865983	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:40865983C>T	uc001zmd.1	+	2	1161	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P	RPUSD2_uc021sjh.1_Silent_p.P326P	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA.	387					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCAACGACCCCATCTACAACT	0.597000														36			33		0	0	0.00327116	0	0
ZIM3	114026	broad.mit.edu	37	19	57646552	57646552	+	Missense_Mutation	SNP	G	A	A	rs150510557		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57646552G>A	uc002qnz.1	-	4	1539	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H385Y(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCCAGTATGGATTTTTTTA	0.393000														149			25		0	0	0.00332997	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945254	119945254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:119945254C>T	uc003yon.4	-	1	639	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	106					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TCCTTGCATTCGCACACGCGG	0.557000														56			28		0	0	0.000878237	0	0
PDE6C	5146	broad.mit.edu	37	10	95380655	95380655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:95380655C>T	uc001kiu.4	+	2	779	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	214	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TAGGTCTTTTCCAAATACCTC	0.408000														36			238		0	0	0.00361006	0	0
WNT2B	7482	broad.mit.edu	37	1	113059861	113059861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:113059861G>A	uc001ecb.3	+	3	1315	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	WNT2B_uc001eca.3_Missense_Mutation_p.R248Q|WNT2B_uc009wgg.3_Missense_Mutation_p.R175Q	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	267					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTGCGGCGACGCTATGAT	0.607000														18			52		0	0	0.00361006	0	0
TRPC7	57113	broad.mit.edu	37	5	135583275	135583275	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:135583275C>T	uc003lbn.2	-	6	1950	c.1728G>A	c.(1726-1728)gtG>gtA	p.V576V	TRPC7_uc010jef.2_Silent_p.V512V|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.V127V|TRPC7_uc010jeh.2_Silent_p.V515V|TRPC7_uc010jei.2_Silent_p.V460V	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	576					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGATATCTTTCACAGTTCTCC	0.473000														75			33		0	0	0.00170553	0	0
MUC16	94025	broad.mit.edu	37	19	9056795	9056795	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9056795G>A	uc002mkp.3	-	2	30855	c.30651C>T	c.(30649-30651)gcC>gcT	p.A10217A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10219	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						TATACTGTGAGGCTGGAGGCC	0.468000														44			21		0	0	0.00188189	0	0
VTCN1	79679	broad.mit.edu	37	1	117699533	117699533	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:117699533G>A	uc001ehb.3	-	2	213	c.108C>T	c.(106-108)tcC>tcT	p.S36S	VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	36	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGACTGTGATGGAGTGTCTCC	0.473000														38			11		0	0	0.000673444	0	0
CDCP2	200008	broad.mit.edu	37	1	54618546	54618546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:54618546C>T	uc001cwv.1	-	0	898	c.50G>A	c.(49-51)gGc>gAc	p.G17D		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	17						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GAGCCCTGGGCCCAGCAGTGC	0.652000														46			61		0	0	0.00361006	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962331	10962331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:10962331G>A	uc001qyx.3	-	0	437	c.344C>T	c.(343-345)tCg>tTg	p.S115L	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	115					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAATGGGTGCGATATATTGGC	0.378000														21			19		0	0	0.00121646	0	0
FAT2	2196	broad.mit.edu	37	5	150922028	150922028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:150922028G>A	uc003lue.4	-	8	8673	c.8660C>T	c.(8659-8661)tCc>tTc	p.S2887F		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2887	Cadherin 25.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTGAGAGGATAGCTGGAT	0.498000														91			36		0	0	0.00327116	0	0
MTMR1	8776	broad.mit.edu	37	X	149912857	149912857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:149912857C>T	uc004feh.1	+	12	1633	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	MTMR1_uc011mya.1_Missense_Mutation_p.H398Y|MTMR1_uc004fei.3_Missense_Mutation_p.H492Y|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	492	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TAATGACAACCATGCGGATGC	0.413000														6			41		0	0	0.00361006	0	0
C2orf53	339779	broad.mit.edu	37	2	27360020	27360021	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:27360020_27360021GG>AA	uc002rjb.2	-	2	1757_1758	c.1177_1178CC>TT	c.(1177-1179)cct>TTt	p.P393F	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.P393F	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	393								p.P393H(2)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGGGCAAGGCCTGGGCTTC	0.584000														38			45		0	0	6.4e-05	0	0
C15orf39	56905	broad.mit.edu	37	15	75500392	75500392	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:75500392C>A	uc002azp.4	+	1	2323	c.2003C>A	c.(2002-2004)cCg>cAg	p.P668Q	C15orf39_uc002azq.4_Missense_Mutation_p.P668Q|C15orf39_uc021sqm.1_Missense_Mutation_p.P427Q|C15orf39_uc002azr.4_Missense_Mutation_p.P66Q	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	668										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCGTGGTCCCGTCCACGCCC	0.607000														67			31		2.08457e-15	6.08561e-15	0.00209593	1	0
CRP	1401	broad.mit.edu	37	1	159683350	159683350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159683350C>T	uc001ftw.3	-	1	744	c.640G>A	c.(640-642)Ggc>Agc	p.G214S	CRP_uc001ftx.1_Missense_Mutation_p.G81S|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	214	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.G214C(2)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AACACTTCGCCTTGCACTTCA	0.557000														47			20		0	0	0.000958276	0	0
SPAG17	200162	broad.mit.edu	37	1	118629581	118629581	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:118629581G>A	uc001ehk.2	-	10	1478	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	470						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCTGGGGGATGGCTCCC	0.522000														97			26		0	0	0.00127121	0	0
HERC1	8925	broad.mit.edu	37	15	64046743	64046743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:64046743C>T	uc002amp.3	-	6	1883	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.D579N	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	579					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTTCTCCCATCTTTAGACAGA	0.348000														42			30		0	0	0.0024448	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863217	56863217	+	Silent	SNP	G	A	A	rs71459371		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56863217G>A	uc001sli.4	+	1	555	c.480G>A	c.(478-480)caG>caA	p.Q160Q	SPRYD4_uc010sqo.1_Silent_p.Q148Q	NM_207344	NP_997227	Q8WW59	SPRY4_HUMAN	Homo sapiens SPRY domain containing 4 (SPRYD4), mRNA.	160	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATGAGGCCCAGAAGCTGAGCC	0.592000														25			28		0	0	0.001512	0	0
BNIP2	663	broad.mit.edu	37	15	59964889	59964889	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:59964889G>A	uc010uhc.2	-	5	888	c.885C>T	c.(883-885)ttC>ttT	p.F295F	BNIP2_uc010uhb.2_Silent_p.F236F	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA.	174	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	GTPase activator activity|calcium ion binding|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTCAGGCATGAAACAGACAG	0.343000														75			52		0	0	0.00361006	0	0
CD163	9332	broad.mit.edu	37	12	7632488	7632488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7632488C>T	uc001qsz.3	-	15	3576	c.3448G>A	c.(3448-3450)Gaa>Aaa	p.E1150K	CD163_uc001qta.3_Silent_p.*1122*|CD163_uc009zfw.2_Silent_p.*1155*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1150					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTTCCTTTTCAGTGTGGCTC	0.398000														23			34		0	0	0.00375469	0	0
C11orf30	56946	broad.mit.edu	37	11	76255759	76255759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:76255759C>T	uc001oxl.3	+	18	3309	c.3166C>T	c.(3166-3168)Cct>Tct	p.P1056S	C11orf30_uc001oxm.3_Missense_Mutation_p.P958S|C11orf30_uc010rsb.2_Missense_Mutation_p.P1071S|C11orf30_uc010rsc.2_Missense_Mutation_p.P1057S|C11orf30_uc001oxn.3_Missense_Mutation_p.P1057S|C11orf30_uc010rsd.2_Missense_Mutation_p.P965S|C11orf30_uc001oxo.1_Missense_Mutation_p.P410S|C11orf30_uc010rse.2_Missense_Mutation_p.P303S|C11orf30_uc001oxp.3_Missense_Mutation_p.P156S	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	1056	Gln-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.P1056H(1)|p.L1055L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCAGCAGCTCCCTAAACTGCA	0.552000														55			14		0	0	0.00185496	0	0
CA13	377677	broad.mit.edu	37	8	86180738	86180738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:86180738C>T	uc003ydg.2	+	5	893	c.551C>T	c.(550-552)tCt>tTt	p.S184F	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	184					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						GACCTATTGTCTCTGCTTCCA	0.398000														57			56		0	0	0.00361006	0	0
OR6F1	343169	broad.mit.edu	37	1	247875297	247875297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247875297G>A	uc001idj.1	-	0	761	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAAAACTGTGGACCCATACCA	0.537000														91			17		0	0	0.000566183	0	0
FANCD2	2177	broad.mit.edu	37	3	10136910	10136910	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:10136910C>T	uc003buw.3	+	40	4068	c.3990C>T	c.(3988-3990)acC>acT	p.T1330T	FANCD2_uc003bux.1_Silent_p.T1330T|FANCD2_uc003buy.1_Silent_p.T1330T|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1330					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TACTGGAAACCTTCCAGTTGG	0.428000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					14			11		0	0	0.00136819	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413991	105413991	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:105413991C>T	uc010axc.1	-	6	7917	c.7797G>A	c.(7795-7797)aaG>aaA	p.K2599K	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.K2499K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2599						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)			TCACTTCCGCCTTGGGGCCTT	0.622000														73			107		0	0	0.00361006	0	0
SLC39A11	201266	broad.mit.edu	37	17	70845886	70845886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:70845886G>A	uc002jjb.3	-	5	624	c.509C>T	c.(508-510)cCa>cTa	p.P170L	SLC39A11_uc002jja.3_Missense_Mutation_p.P163L	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.	170					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGGACCCTCTGGAAGGCCAGT	0.542000														64			16		0	0	0.00152264	0	0
PLD1	5337	broad.mit.edu	37	3	171405331	171405331	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:171405331T>C	uc003fhs.3	-	14	1930	c.1583A>G	c.(1582-1584)aAa>aGa	p.K528R	PLD1_uc003fht.3_Missense_Mutation_p.K528R	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	528	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGGCTCATTTTTATCTTTGAG	0.368000														68			46		0	0	0.00361006	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77191241	77191241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:77191241C>T	uc001syk.1	+	1	284	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Intron	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	41					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CCATTATAACCATGGATATGG	0.343000														10			17		0	0	0.000958276	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243685	1243685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:1243685G>A	uc003jby.2	+	8	1270	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	383					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCGGGCCCGGGCCTGGCCTT	0.642000														84			44		0	0	0.00361006	0	0
IGFL4	444882	broad.mit.edu	37	19	46543462	46543462	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:46543462T>C	uc002pdy.1	-	2	337	c.283A>G	c.(283-285)Atg>Gtg	p.M95V		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	Homo sapiens IGF-like family member 4 (IGFL4), mRNA.	95						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TCTGGCTTCATGCCTGGGACC	0.592000														35			21		0	0	0.00278032	0	0
HEPHL1	341208	broad.mit.edu	37	11	93836140	93836140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:93836140C>T	uc001pep.2	+	14	2793	c.2636C>T	c.(2635-2637)cCc>cTc	p.P879L	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	879	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCTTCTGATCCCAATTGTATT	0.333000														4			24		0	0	0.000878237	0	0
MVD	4597	broad.mit.edu	37	16	88723906	88723906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:88723906G>A	uc002flg.1	-	3	348	c.341C>T	c.(340-342)tCg>tTg	p.S114L	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	114					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTTGTTCACCGATGCCACGTG	0.677000														30			12		0	0	0.00316338	0	0
ZNF441	126068	broad.mit.edu	37	19	11891506	11891506	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:11891506T>G	uc010dyj.3	+	3	1061	c.867T>G	c.(865-867)ttT>ttG	p.F289L	ZNF441_uc002msn.4_Missense_Mutation_p.F245L	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAAGCATTTTATCATCTTG	0.403000														27			41		0	0	0.00222228	0	0
LMTK3	114783	broad.mit.edu	37	19	49013377	49013377	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49013377C>T	uc002pjk.3	-	3	351	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGTCTCCTCCGCAGGGGGAG	0.622000														12			6		0	0	0.00198382	0	0
MAS1	4142	broad.mit.edu	37	6	160328212	160328212	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:160328212C>T	uc003qsz.3	+	0	239	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	75					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ACCTGTCTATCGCAGACATCT	0.438000														14			102		0	0	0.00361006	0	0
SYT8	90019	broad.mit.edu	37	11	1858493	1858493	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:1858493C>T	uc001lue.1	+	8	1166	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	SYT8_uc001lud.2_Silent_p.H346H|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank|TNNI2_uc010qxe.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	346	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAAGGTGCACCTGGGTGCCC	0.706000														6			11		0	0	0.000978159	0	0
NWD1	284434	broad.mit.edu	37	19	16870130	16870130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:16870130G>A	uc002neu.4	+	6	2286	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	NWD1_uc002net.4_Missense_Mutation_p.E487K|NWD1_uc002nev.4_Missense_Mutation_p.E416K|NWD1_uc021uqg.1_Missense_Mutation_p.E487K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	622	NACHT.						ATP binding	p.S622F(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCAGCAAGGAGCTGCTGCG	0.642000														25			7		0	0	0.00307968	0	0
SPTA1	6708	broad.mit.edu	37	1	158641235	158641235	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158641235C>T	uc001fst.1	-	11	1696	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	499					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCGTTTTCCAGGAAGGCCT	0.488000														26			11		0	0	0.00244969	0	0
RERE	473	broad.mit.edu	37	1	8425888	8425888	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:8425888G>A	uc001ape.3	-	13	2241	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	RERE_uc001apf.3_Silent_p.P477P|RERE_uc010nzx.1_Silent_p.P209P|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	477					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CACTGGACGGGGGTCTGGAGG	0.637000														2			54		0	0	0.00361006	0	0
LOC643802	643802	broad.mit.edu	37	16	53404789	53404789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:53404789C>T	uc021tik.1	-	0	253	c.113G>A	c.(112-114)aGc>aAc	p.S38N		NM_001207030	NP_001193959			Homo sapiens u3 small nucleolar ribonucleoprotein protein MPP10-like (LOC643802), mRNA.																		TTCCAATTTGCTGATATCAAA	0.413000														33			9		0	0	0.000442599	0	0
AKR1D1	6718	broad.mit.edu	37	7	137790090	137790090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:137790090C>T	uc003vtz.3	+	4	581	c.494C>T	c.(493-495)tCc>tTc	p.S165F	AKR1D1_uc011kqd.1_Non-coding_Transcript|AKR1D1_uc011kqb.1_Missense_Mutation_p.S165F|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.S165F|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	165					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTGGTGAAATCCCTGGGAGTG	0.483000														182			49		0	0	0.00361006	0	0
FBXL3	26224	broad.mit.edu	37	13	77581760	77581760	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:77581760G>A	uc001vkd.3	-	4	1178	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA.	269					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process	SCF ubiquitin ligase complex|cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		GAATAGTATGGAAGTGTGTCT	0.373000														24			25		0	0	0.00106085	0	0
KALRN	8997	broad.mit.edu	37	3	124416491	124416492	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:124416491_124416492CC>TT	uc003ehg.3	+	54	7878_7879	c.7751_7752CC>TT	c.(7750-7752)tcc>tTT	p.S2584F	KALRN_uc003ehk.3_Missense_Mutation_p.S887F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2583	Fibronectin type-III.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTGCACCTCCGTGATTCTCC	0.545000														12			7		0	0	6.4e-05	0	0
DNASE2	1777	broad.mit.edu	37	19	12989369	12989369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:12989369G>A	uc002mvn.1	-	4	682	c.536C>T	c.(535-537)cCc>cTc	p.P179L	DNASE2_uc010xmr.1_Missense_Mutation_p.P124L	NM_001375	NP_001366	O00115	DNS2A_HUMAN	Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.	179					apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding	p.P179T(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						ATAGACCCAGGGGTAGGTGTA	0.547000														15			17		0	0	0.00152264	0	0
PLXND1	23129	broad.mit.edu	37	3	129276010	129276010	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:129276010G>A	uc003emx.2	-	33	5602	c.5502C>T	c.(5500-5502)atC>atT	p.I1834I	PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.I503I	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1834					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCGCTGCACGATCTTCCGGT	0.587000														51			36		0	0	0.00148497	0	0
PYCRL	65263	broad.mit.edu	37	8	144687954	144687954	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:144687954G>A	uc003yyy.3	-	5	807	c.777C>T	c.(775-777)gcC>gcT	p.A259A	PYCRL_uc011lkm.2_Silent_p.A239A|PYCRL_uc011lkn.2_Non-coding_Transcript	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase-like (PYCRL), mRNA.	247					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCTGCTCCAGGGCGTGGAGTC	0.682000														71			29		0	0	0.0024448	0	0
FRZB	2487	broad.mit.edu	37	2	183723556	183723556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:183723556G>A	uc002upa.2	-	1	702	c.484C>T	c.(484-486)Cct>Tct	p.P162S		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	162					Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GAATCCATAGGAAAATCTGAA	0.343000														89			70		0	0	0.00361006	0	0
OSMR	9180	broad.mit.edu	37	5	38919081	38919081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:38919081C>T	uc003jln.2	+	10	1904	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	501	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GACAGGTGTTCCTACCAAATC	0.438000														6			33		0	0	0.00111076	0	0
TTN	7273	broad.mit.edu	37	2	179427361	179427361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179427361C>T	uc021vsy.1	-	274	76019	c.75794G>A	c.(75793-75795)gGa>gAa	p.G25265E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G18960E|TTN_uc021vta.1_Missense_Mutation_p.G18893E|TTN_uc021vtb.1_Missense_Mutation_p.G18768E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26192	Ig-like 124.						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)			GTAAGAACATCCTTCTTGTAG	0.388000														51			37		0	0	0.000814825	0	0
MYT1	4661	broad.mit.edu	37	20	62848472	62848472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62848472C>T	uc002yii.3	+	10	2048	c.1684C>T	c.(1684-1686)Ccc>Tcc	p.P562S	MYT1_uc002yih.3_Missense_Mutation_p.P264S|MYT1_uc002yij.3_Missense_Mutation_p.P194S	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	562					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGCTACCGGCCCAACGTGGC	0.597000														81			24		0	0	0.00395357	0	0
MAP3K15	389840	broad.mit.edu	37	X	19410163	19410163	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:19410163C>T	uc022btq.1	-	17	2388	c.2388G>A	c.(2386-2388)tcG>tcA	p.S796S	MAP3K15_uc004czj.2_Silent_p.S231S|MAP3K15_uc004czk.2_Silent_p.S271S	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	796	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.S843S(1)|p.S271S(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAAGACGTTTCGAGGTTCCAA	0.488000														0			22		0	0	0.00278032	0	0
WDR74	54663	broad.mit.edu	37	11	62601757	62601757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62601757G>A	uc001nvm.2	-	8	934	c.766C>T	c.(766-768)Ctt>Ttt	p.L256F	STX5_uc001nvh.3_5'Flank|STX5_uc010rmj.2_5'Flank|STX5_uc010rmi.2_5'Flank|WDR74_uc001nvl.2_Missense_Mutation_p.L256F|WDR74_uc009yoi.2_Missense_Mutation_p.L256F	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	256						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						CCTTGCCGAAGGTCAATTTCT	0.567000														54			79		0	0	0.00361006	0	0
RETNLB	84666	broad.mit.edu	37	3	108474705	108474705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108474705C>T	uc003dxh.2	-	2	354	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	86					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGCTGAACATCCCACGAACCA	0.572000														37			31		0	0	0.00178596	0	0
ZNF480	147657	broad.mit.edu	37	19	52825827	52825827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52825827C>T	uc010ydl.2	+	4	1394	c.1324C>T	c.(1324-1326)Ctt>Ttt	p.L442F	ZNF480_uc002pyv.3_Missense_Mutation_p.L365F|ZNF480_uc010ydm.2_Missense_Mutation_p.L399F|ZNF480_uc010epn.3_Missense_Mutation_p.L273F|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	442					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)		GTATTCAGGCCTTTCAGCCCA	0.393000														157			35		0	0	0.00128727	0	0
DGKQ	1609	broad.mit.edu	37	4	956341	956341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:956341G>A	uc003gbw.3	-	17	2170	c.2096C>T	c.(2095-2097)tCc>tTc	p.S699F	DGKQ_uc010ibn.3_Missense_Mutation_p.S686F	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	699	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CAGCAGTACGGAGAACGGGTC	0.647000														17			17		0	0	0.00121646	0	0
UEVLD	55293	broad.mit.edu	37	11	18596940	18596940	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18596940C>T	uc001mot.3	-	2	227	c.147G>A	c.(145-147)caG>caA	p.Q49Q	UEVLD_uc001mou.3_Silent_p.Q49Q|UEVLD_uc010rde.2_5'UTR|UEVLD_uc010rdf.2_Intron|UEVLD_uc010rdg.2_5'UTR|UEVLD_uc001mov.3_Intron|UEVLD_uc010rdh.2_Silent_p.Q49Q	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	49	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCAGGTCTTTCTGAGAACTAT	0.338000														41			58		0	0	0.00361006	0	0
KREMEN1	83999	broad.mit.edu	37	22	29533461	29533461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:29533461C>T	uc011akm.1	+	5	816	c.763C>T	c.(763-765)Cac>Tac	p.H255Y	KREMEN1_uc003ael.3_Missense_Mutation_p.H255Y|KREMEN1_uc011akn.2_Missense_Mutation_p.H138Y	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	253	CUB.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CTCCCACATCCACTTCAGCTT	0.612000														41			46		0	0	0.00361006	0	0
CSMD3	114788	broad.mit.edu	37	8	113529379	113529379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:113529379C>T	uc003ynu.3	-	27	4799	c.4640G>A	c.(4639-4641)gGg>gAg	p.G1547E	CSMD3_uc003yns.3_Missense_Mutation_p.G819E|CSMD3_uc003ynt.3_Missense_Mutation_p.G1507E|CSMD3_uc011lhx.2_Missense_Mutation_p.G1443E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1547	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACAGTGTCCCCAGGTTCTCT	0.478000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				45			30		0	0	0.00209593	0	0
ZNF385C	201181	broad.mit.edu	37	17	40180127	40180127	+	Missense_Mutation	SNP	G	A	A	rs147945853		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:40180127G>A	uc021txr.1	-	5	868	c.868C>T	c.(868-870)Cct>Tct	p.P290S		NM_001242704	NP_001229633			Homo sapiens zinc finger protein 385C (ZNF385C), mRNA.											lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	3		all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126)				TGGAAGGCAGGGCTGGGCCCC	0.682000														3			53		0	0	0.00361006	0	0
NUP214	8021	broad.mit.edu	37	9	134038512	134038512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:134038512C>T	uc004cag.3	+	18	2786	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	NUP214_uc004cah.3_Missense_Mutation_p.S882F|NUP214_uc004cai.3_Missense_Mutation_p.S322F|NUP214_uc004caf.1_Missense_Mutation_p.S881F|NUP214_uc010mzf.3_Missense_Mutation_p.S190F	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	892	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAACAGACTTCCCTGTGGAGC	0.493000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									8			56		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9068232	9068232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9068232G>A	uc002mkp.3	-	2	19418	c.19214C>T	c.(19213-19215)tCc>tTc	p.S6405F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6407	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						TCTGCTAGAGGAGGTGAGTTC	0.498000														48			20		0	0	0.00121646	0	0
TK2	7084	broad.mit.edu	37	16	66565282	66565283	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:66565282_66565283CC>TT	uc002eos.3	-	5	726	c.375_splice	c.e5+1	p.Q125_splice	TK2_uc010vip.2_Splice_Site_p.Q28_splice|TK2_uc002eor.3_Splice_Site_p.Q94_splice|TK2_uc010cdq.3_Splice_Site_p.Q94_splice|TK2_uc010viq.2_Splice_Site_p.Q107_splice|TK2_uc010vir.2_Splice_Site_p.Q100_splice|TK2_uc010cdr.3_Splice_Site_p.Q76_splice	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	125					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CTGAAACCTACCTGAGGACGAG	0.515000														26			5		0	0	6.4e-05	0	0
SNX24	28966	broad.mit.edu	37	5	122281819	122281819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:122281819G>A	uc011cwo.2	+	2	383	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	SNX24_uc003ktf.2_Missense_Mutation_p.E72K|SNX24_uc010jcy.3_Missense_Mutation_p.E72K	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	72	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CAAAGTCTTGGAACAGCGACG	0.333000														23			15		0	0	0.000958276	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902218	230902218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:230902218C>T	uc002vqd.2	-	4	1870	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	471						integral to membrane|plasma membrane	symporter activity	p.D471N(2)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAGGAAAAATCATATTTTTGC	0.333000														34			25		0	0	0.000878237	0	0
CKAP5	9793	broad.mit.edu	37	11	46766034	46766034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:46766034G>A	uc001ndi.2	-	42	5924	c.5798C>T	c.(5797-5799)tCt>tTt	p.S1933F	CKAP5_uc009ylg.1_Missense_Mutation_p.S1826F|CKAP5_uc001ndj.2_Missense_Mutation_p.S1873F|CKAP5_uc001ndh.1_Missense_Mutation_p.S862F	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1933					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAAGTAGACAGATGGCCCCAC	0.522000														67			28		0	0	0.000720815	0	0
FLG	2312	broad.mit.edu	37	1	152282637	152282637	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152282637C>T	uc001ezu.1	-	2	4761	c.4725G>A	c.(4723-4725)caG>caA	p.Q1575Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1575	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S1574*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGCCCACCTGTGAGTGTC	0.577000									Ichthyosis					70			115		0	0	0.00361006	0	0
LONRF2	164832	broad.mit.edu	37	2	100906787	100906787	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:100906787C>A	uc002tal.4	-	9	2493	c.1853G>T	c.(1852-1854)cGa>cTa	p.R618L	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	618	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GCTTAGCACTCGGAACCGACT	0.448000														71			47		2.14674e-31	6.30791e-31	0.00361006	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45675348	45675348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:45675348G>A	uc001wwf.3	-	14	3637	c.3178C>T	c.(3178-3180)Cgt>Tgt	p.R1060C		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	1060					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTGCATACGAAAAACATAT	0.259000														37			12		0	0	0.000422831	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606287	7606287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:7606287C>T	uc003mxr.3	+	7	889	c.830C>T	c.(829-831)tCa>tTa	p.S277L	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_Missense_Mutation_p.S29L	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	277					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CGATCAGCTTCAGTAGATTCA	0.413000														94			56		0	0	0.00361006	0	0
CD226	10666	broad.mit.edu	37	18	67614097	67614097	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:67614097C>T	uc010dqo.3	-	1	702	c.255G>A	c.(253-255)acG>acA	p.T85T	CD226_uc002lkm.4_Silent_p.T85T|CD226_uc021uli.1_Intron	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	85	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TGGAAGCCATCGTTGAATTCA	0.458000														27			29		0	0	0.001512	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962753	73962753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:73962753G>A	uc004eby.3	-	2	2256	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	547					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.R547H(1)|p.N546I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTTTAAAGCGATTAATGATG	0.403000														3			27		0	0	0.00127121	0	0
MORC1	27136	broad.mit.edu	37	3	108705748	108705748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108705748C>T	uc003dxl.3	-	21	2323	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	MORC1_uc011bhn.2_Missense_Mutation_p.E725K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	746					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGAGGAATTTCCTTTTTTTCT	0.279000														22			9		0	0	0.000442599	0	0
BFSP2	8419	broad.mit.edu	37	3	133166238	133166238	+	Silent	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:133166238A>G	uc003epn.1	+	1	705	c.567A>G	c.(565-567)aaA>aaG	p.K189K	BC007984_uc003epo.3_Intron	NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	189	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATGACTTTAAAGAGAGGTAAT	0.517000														35			8		0	0	0.00307968	0	0
THEM5	284486	broad.mit.edu	37	1	151820666	151820666	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:151820666C>G	uc021oyw.1	-	3	699	c.567G>C	c.(565-567)agG>agC	p.R189S		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	189							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTTTTTGAACCTGATGTTGA	0.557000														33			48		0	0	0.00361006	0	0
TMEM144	55314	broad.mit.edu	37	4	159162695	159162695	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:159162695C>T	uc003ipx.3	+	10	1357	c.837C>T	c.(835-837)acC>acT	p.T279T	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	279						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CTATAGCTACCTGCTGTTGGT	0.418000														66			33		0	0	0.000953801	0	0
CT62	196993	broad.mit.edu	37	15	71403623	71403623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:71403623C>T	uc002ata.2	-	3	791	c.278G>A	c.(277-279)cGg>cAg	p.R93Q		NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN	Homo sapiens cancer/testis antigen 62 (CT62), mRNA.	93								p.R93W(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CTTGACATTCCGTCTGGAAAC	0.493000														30			24		0	0	0.00395357	0	0
ZFP30	22835	broad.mit.edu	37	19	38127197	38127197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38127197G>A	uc002ogv.1	-	5	761	c.245C>T	c.(244-246)tCc>tTc	p.S82F	ZFP30_uc002ogw.1_Missense_Mutation_p.S82F|ZFP30_uc002ogx.1_Missense_Mutation_p.S82F|ZFP30_uc010xtt.1_Missense_Mutation_p.S81F	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCATATCTGGATTCCAAATC	0.294000														11			14		0	0	0.000422831	0	0
ZNF398	57541	broad.mit.edu	37	7	148863939	148863939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:148863939C>T	uc011kum.2	+	4	734	c.593C>T	c.(592-594)tCt>tTt	p.S198F	ZNF398_uc011kul.2_Missense_Mutation_p.S22F|ZNF398_uc003wfl.3_Missense_Mutation_p.S193F	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	193	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GATGTCTTATCTCAGATTCAA	0.428000														3			15		0	0	0.000422831	0	0
ALPK3	57538	broad.mit.edu	37	15	85402590	85402590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:85402590G>A	uc002ble.3	+	6	4707	c.4540G>A	c.(4540-4542)Gat>Aat	p.D1514N		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1514	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGGGCCAAGGATCAGCGCCC	0.562000														18			21		0	0	0.00395357	0	0
KIF12	113220	broad.mit.edu	37	9	116854270	116854270	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:116854270C>T	uc004bif.3	-	15	1651	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	604					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGTTTGGAACCCCGGCCCCAC	0.667000														2			25		0	0	0.00395357	0	0
MYO15A	51168	broad.mit.edu	37	17	18023906	18023906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:18023906G>A	uc021trm.1	+	0	2011	c.1792G>A	c.(1792-1794)Ggc>Agc	p.G598S	MYO15A_uc021trl.1_Missense_Mutation_p.G598S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	598	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	p.A597P(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCCCGGGCGGGCGGCCCTGC	0.697000														3			7		0	0	0.000673444	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657351	46657351	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:46657351C>A	uc003bhh.3	-	0	1869	c.1869G>T	c.(1867-1869)ttG>ttT	p.L623F		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	623	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACTGAGGCCCCAAGTACAGGA	0.448000														132			7		0.00198382	0.00571265	0.00198382	1	0
BIRC8	112401	broad.mit.edu	37	19	53793363	53793363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53793363C>T	uc002qbk.3	-	0	1513	c.265G>A	c.(265-267)Gga>Aga	p.G89R		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	89					apoptosis		zinc ion binding	p.E88E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		ACCAGAGCTCCCTCAAGTGAA	0.393000														73			80		0	0	0.00361006	0	0
SPTA1	6708	broad.mit.edu	37	1	158596768	158596768	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158596768C>T	uc001fst.1	-	40	5893	c.5694G>A	c.(5692-5694)gaG>gaA	p.E1898E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1898					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGAAGAAATCTCTTTGTTCT	0.423000														59			68		0	0	0.00361006	0	0
RBP2	5948	broad.mit.edu	37	3	139181108	139181108	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:139181108A>G	uc003eth.3	-	1	149	c.98T>C	c.(97-99)aTt>aCt	p.I33T		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	33					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	ACGTACTGCAATCTTGCGGGT	0.418000														51			50		0	0	0.00361006	0	0
RHOH	399	broad.mit.edu	37	4	40245440	40245440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:40245440C>T	uc003guz.2	+	2	1158	c.434C>T	c.(433-435)gCc>gTc	p.A145V	RHOH_uc021xnp.1_Missense_Mutation_p.A145V	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	145					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GATGTCAGAGCCAAGGGCTAC	0.622000														18			12		0	0	0.000978159	0	0
ADH1C	126	broad.mit.edu	37	4	100273819	100273819	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:100273819C>T	uc021xqi.1	-	0		c.99G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.313000														42			27		0	0	0.0024448	0	0
C11orf24	53838	broad.mit.edu	37	11	68029501	68029501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:68029501G>A	uc001onr.4	-	3	1404	c.962C>T	c.(961-963)tCc>tTc	p.S321F		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	321	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGTCGTGGGGGACATGGCCTC	0.637000														20			37		0	0	0.00128727	0	0
L1CAM	3897	broad.mit.edu	37	X	153135651	153135651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:153135651G>A	uc004fjb.3	-	7	959	c.851C>T	c.(850-852)cCa>cTa	p.P284L	L1CAM_uc004fjc.3_Missense_Mutation_p.P284L|L1CAM_uc010nuo.3_Missense_Mutation_p.P279L|L1CAM_uc004fjd.1_Missense_Mutation_p.P98L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	284	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.P284T(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGGTCGGCTGGCATGGGGCC	0.617000														9			76		0	0	0.00361006	0	0
RIMS2	9699	broad.mit.edu	37	8	104922429	104922429	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:104922429G>A	uc003yls.3	+	3	1267	c.1026_splice	c.e3+1	p.L342_splice	RIMS2_uc003ylp.3_Splice_Site_p.L564_splice|RIMS2_uc003ylw.2_Splice_Site_p.L372_splice|RIMS2_uc003ylq.3_Splice_Site_p.L372_splice|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	642					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion 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)			CAATGTCTTTGGTGAGACATG	0.368000										HNSCC(12;0.0054)				123			53		0	0	0.00361006	0	0
SPON2	10417	broad.mit.edu	37	4	1165760	1165760	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:1165760T>C	uc003gco.4	-	1	429	c.100A>G	c.(100-102)Atc>Gtc	p.I34V	SPON2_uc021xkj.1_Missense_Mutation_p.I34V|SPON2_uc010ibr.3_Missense_Mutation_p.I34V|SPON2_uc003gcm.1_5'Flank	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	34	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCGGAACAGATGGACTCTCCC	0.687000														33			19		0	0	0.00229938	0	0
MLL5	55904	broad.mit.edu	37	7	104752740	104752740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:104752740G>A	uc003vcm.3	+	26	5071	c.4537G>A	c.(4537-4539)Gca>Aca	p.A1513T	MLL5_uc010ljc.3_Missense_Mutation_p.A1513T|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Missense_Mutation_p.A247T	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1513	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TACTCAGCAGGCAACTTCTGG	0.478000														36			84		0	0	0.00361006	0	0
LRP5L	91355	broad.mit.edu	37	22	25753393	25753393	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:25753393G>A	uc003abs.3	-	2	2732	c.267_splice	c.e2-1	p.G89_splice	LRP5L_uc011ajz.2_Splice_Site_p.G89_splice|LRP5L_uc010guw.1_Splice_Site_p.G89_splice	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	89										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGTACGTGAGGCTGGAGAAGA	0.602000														56			24		0	0	0.00106085	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074292	106074292	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:106074292G>A	uc001kyf.3	-	2	1971	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	ITPRIP_uc001kye.3_Silent_p.F506F|ITPRIP_uc001kyg.3_Silent_p.F506F|ITPRIP_uc021pxv.1_Silent_p.F506F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	506						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCTGCAGGACGAAGGGCCGGA	0.587000														9			37		0	0	0.00148497	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155000	55155000	+	Silent	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:55155000T>C	uc003han.4	+	19	3040	c.2709T>C	c.(2707-2709)tcT>tcC	p.S903S	PDGFRA_uc003haa.3_Silent_p.S663S	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	903	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|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)	TGGTGGATTCTACTTTCTACA	0.512000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				21			30		0	0	0.00178596	0	0
FCRL3	115352	broad.mit.edu	37	1	157667079	157667079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:157667079C>T	uc001fqz.4	-	5	987	c.695G>A	c.(694-696)aGc>aAc	p.S232N	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.S232N|FCRL3_uc001frc.1_Missense_Mutation_p.S232N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	232	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGGGTCTGGCTATCTCTGAA	0.587000														39			50		0	0	0.00361006	0	0
SPRED2	200734	broad.mit.edu	37	2	65543943	65543943	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:65543943G>A	uc002sdr.4	-	4	1048	c.513C>T	c.(511-513)tcC>tcT	p.S171S	SPRED2_uc010fcw.3_Silent_p.S168S	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	171					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGTGCTCACAGGATGTGGGAG	0.527000														27			23		0	0	0.00278032	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41739503	41739503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:41739503C>T	uc003azw.3	+	12	1598	c.1382C>T	c.(1381-1383)tCg>tTg	p.S461L		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	477					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.S461S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTCCGGAGCTCGGAGGACCAG	0.677000														45			44		0	0	0.00285205	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170436	72170436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72170436C>T	uc002fcc.4	-	8	1286	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	PMFBP1_uc002fcd.3_Missense_Mutation_p.D372N|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.D227N	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	372										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATGTCCTTATCCTTCCTCTCA	0.552000														31			57		0	0	0.00361006	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644020	37644020	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37644020G>A	uc002ofo.1	-	4	1012	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	ZNF585A_uc002ofm.1_Nonsense_Mutation_p.Q206*|ZNF585A_uc002ofn.1_Nonsense_Mutation_p.Q206*	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGATTTTCTGATGCATCTTG	0.433000														71			51		0	0	0.00361006	0	0
C9orf131	138724	broad.mit.edu	37	9	35044082	35044082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:35044082G>A	uc003zvw.3	+	1	1485	c.1456G>A	c.(1456-1458)Ggc>Agc	p.G486S	C9orf131_uc003zvu.3_Missense_Mutation_p.G438S|C9orf131_uc003zvv.3_Missense_Mutation_p.G413S|C9orf131_uc003zvx.3_Missense_Mutation_p.G451S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	486										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCTAGTAATGGGCCCCCAGGG	0.537000														8			49		0	0	0.00361006	0	0
PLCL1	5334	broad.mit.edu	37	2	198948707	198948707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:198948707G>A	uc010fsp.3	+	1	864	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	PLCL1_uc002uuv.4_Missense_Mutation_p.A77T	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	156	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCTCGAGAAAGCCAAGCTTGA	0.453000														53			44		0	0	0.00195071	0	0
STAB2	55576	broad.mit.edu	37	12	104099426	104099426	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:104099426G>T	uc001tjw.3	+	36	4103	c.3917G>T	c.(3916-3918)aGa>aTa	p.R1306I		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1306					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAGAAGAGGAGATGCATCTAT	0.413000														17			18		1.33834e-09	3.89031e-09	0.000958276	1	0
GK2	2712	broad.mit.edu	37	4	80329126	80329126	+	Missense_Mutation	SNP	C	T	T	rs149134428		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:80329126C>T	uc003hlu.3	-	0	247	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	77					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ATATTCAGTTCGTCAAGTTTC	0.418000														36			33		0	0	0.0024448	0	0
LIMA1	51474	broad.mit.edu	37	12	50571299	50571300	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:50571299_50571300GG>TT	uc001rwj.4	-	10	2001_2002	c.1827_1828CC>AA	c.(1825-1830)tcccca>tcAAca	p.P610T	LIMA1_uc001rwg.4_Missense_Mutation_p.P308T|LIMA1_uc001rwh.4_Missense_Mutation_p.P449T|LIMA1_uc001rwi.4_Missense_Mutation_p.P451T|LIMA1_uc001rwk.4_Missense_Mutation_p.P611T|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	610					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P610Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CTGATAGGTGGGGACACAGTTT	0.475000														327			11		0	0	6.4e-05	0	0
CUX1	1523	broad.mit.edu	37	7	101844695	101844695	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:101844695C>T	uc003uys.4	+	17	2278	c.2151C>T	c.(2149-2151)atC>atT	p.I717I	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.I706I	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	706					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGACGCCATCCGCTCCATCC	0.657000														125			39		0	0	0.00148497	0	0
ANO3	63982	broad.mit.edu	37	11	26569067	26569067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:26569067G>A	uc001mqt.4	+	11	1404	c.1259G>A	c.(1258-1260)gGa>gAa	p.G420E	ANO3_uc010rdr.2_Missense_Mutation_p.G404E|ANO3_uc010rds.2_Missense_Mutation_p.G259E|ANO3_uc010rdt.2_Missense_Mutation_p.G274E	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	420						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTCTTCTATGGATTATTTACA	0.348000														69			63		0	0	0.00361006	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412846	19412846	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:19412846C>T	uc010tcj.1	-	0		c.33264G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TGTCATTTTTCATTATGCATA	0.294000														72			32		0	0	0.00178596	0	0
N4BP2	55728	broad.mit.edu	37	4	40104811	40104811	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:40104811C>G	uc003guy.4	+	3	1684	c.1346C>G	c.(1345-1347)cCg>cGg	p.P449R	N4BP2_uc010ifq.3_Missense_Mutation_p.P369R|N4BP2_uc010ifr.3_Missense_Mutation_p.P369R	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	449						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGAGGTCTTCCGGGATCTGGA	0.363000														31			13		0	0	0.00316338	0	0
BEST1	7439	broad.mit.edu	37	11	61727035	61727035	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:61727035C>T	uc001nsr.2	+	6	1325	c.753C>T	c.(751-753)gtC>gtT	p.V251V	BEST1_uc010rlq.1_Missense_Mutation_p.S319L|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nss.3_Silent_p.V311V|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Silent_p.V251V|BEST1_uc001nst.3_Intron|BEST1_uc010rlu.1_Missense_Mutation_p.S273L|BEST1_uc010rlv.2_Silent_p.V205V	NM_001139443	NP_001132915	O76090	BEST1_HUMAN	Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA.	311					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACTGGATTGTCGACAGGAATT	0.537000														16			24		0	0	0.00332997	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905507	144905507	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:144905507A>G	uc022cfn.1	+	0	1564	c.1564A>G	c.(1564-1566)Atc>Gtc	p.I522V	SLITRK2_uc004fcd.3_Missense_Mutation_p.I522V|SLITRK2_uc010nsp.3_Missense_Mutation_p.I522V|SLITRK2_uc010nso.3_Missense_Mutation_p.I522V|SLITRK2_uc011mwq.2_Missense_Mutation_p.I522V|SLITRK2_uc011mwr.2_Missense_Mutation_p.I522V|SLITRK2_uc011mws.2_Missense_Mutation_p.I522V|SLITRK2_uc004fcg.3_Missense_Mutation_p.I522V|SLITRK2_uc011mwt.2_Missense_Mutation_p.I522V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	522						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGCTTTCATCCAGATAGA	0.498000														5			22		0	0	0.00229938	0	0
GABRG1	2565	broad.mit.edu	37	4	46053484	46053484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:46053484C>T	uc003gxb.3	-	7	1240	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	363					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGCAGTCTTTCCTTTTTGGTT	0.328000														10			7		0	0	0.00198382	0	0
RGL1	23179	broad.mit.edu	37	1	183857695	183857695	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:183857695T>C	uc001gqm.3	+	8	1605	c.1144T>C	c.(1144-1146)Tgg>Cgg	p.W382R	RGL1_uc010pof.1_Missense_Mutation_p.W152R|RGL1_uc010pog.2_Missense_Mutation_p.W345R|RGL1_uc010poh.2_Missense_Mutation_p.W345R|RGL1_uc001gqo.3_Missense_Mutation_p.W347R|RGL1_uc010poi.2_Missense_Mutation_p.W347R	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	347	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AAAAAAGACTTGGGCTGCCGT	0.468000														83			30		0	0	0.00106085	0	0
LOC100133308	100133308	broad.mit.edu	37	10	45602574	45602574	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:45602574C>T	uc001jby.3	-	0		c.863G>A			LOC100133308_uc001jbz.3_Intron|LOC100133308_uc009xmq.2_Intron					Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA.																		GGCATGGAACCCAACCATTTG	0.433000														7			6		0	0	0.00116845	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345505	89345505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:89345505G>A	uc002fmx.1	-	8	7906	c.7445C>T	c.(7444-7446)cCg>cTg	p.P2482L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P2482L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2482L|ANKRD11_uc002fna.1_Missense_Mutation_p.P147L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P2439L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2482						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTGCTGAGCGGCTTGCCGTC	0.657000														29			5		0	0	0.00116845	0	0
ZNF676	163223	broad.mit.edu	37	19	22375878	22375878	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:22375878G>A	uc002nqs.1	-	1	388	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCTTGCTCCAGAAAAATGATC	0.403000														23			38		0	0	0.00170553	0	0
PZP	5858	broad.mit.edu	37	12	9353559	9353559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:9353559C>T	uc001qvl.3	-	5	628	c.599G>A	c.(598-600)gGc>gAc	p.G200D	PZP_uc009zgl.3_Missense_Mutation_p.G69D	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTGTAGGAGCCCTGAATGGG	0.483000														29			69		0	0	0.00361006	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197754	23197754	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:23197754C>T	uc002dlm.1	+	1	301	c.162C>T	c.(160-162)ctC>ctT	p.L54L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	54					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity	p.R53C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGCGCCGCCTCCTCTGGATCG	0.607000														39			17		0	0	0.000958276	0	0
STARD4	134429	broad.mit.edu	37	5	110835631	110835631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:110835631C>T	uc003kph.1	-	5	655	c.571G>A	c.(571-573)Gca>Aca	p.A191T	STARD4_uc010jbw.1_Missense_Mutation_p.A93T|STARD4_uc010jbx.1_Missense_Mutation_p.A93T|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	191	START.				lipid transport		lipid binding	p.A191T(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		AAAGTGCTTGCCATGGCTGTA	0.408000														53			20		0	0	0.00278032	0	0
EFEMP1	2202	broad.mit.edu	37	2	56098174	56098174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:56098174C>T	uc002rzi.3	-	9	1586	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	EFEMP1_uc002rzj.3_Missense_Mutation_p.R362Q|EFEMP1_uc010ypc.2_Missense_Mutation_p.R224Q	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	362	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAAGGATTTCGTGGATAACA	0.413000														24			30		0	0	0.00209593	0	0
SPATA5	166378	broad.mit.edu	37	4	124177183	124177183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:124177183C>T	uc003iez.4	+	14	2426	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	785					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTGATGCGGCCTGGAAGAAT	0.408000														28			20		0	0	0.00395357	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21014014	21014014	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:21014014C>T	uc010sil.2	+	3	488	c.423C>T	c.(421-423)acC>acT	p.T141T	SLCO1B3_uc001rek.3_Silent_p.T141T|SLCO1B3_uc001rel.3_Silent_p.T141T|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	141					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GTTTATCAACCTGTTTAATTA	0.284000														40			31		0	0	0.001512	0	0
SHROOM2	357	broad.mit.edu	37	X	9907344	9907344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:9907344G>A	uc004csu.1	+	7	4339	c.4249G>A	c.(4249-4251)Gag>Aag	p.E1417K	SHROOM2_uc004csv.2_Missense_Mutation_p.E252K|SHROOM2_uc011mic.1_Missense_Mutation_p.E252K|SHROOM2_uc004csw.1_Missense_Mutation_p.E252K	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1417	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGACCTGCAGGAGCAGCAGGA	0.602000														1			8		0	0	0.000274275	0	0
KIF4B	285643	broad.mit.edu	37	5	154395457	154395457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:154395457C>T	uc010jih.1	+	0	2198	c.2038C>T	c.(2038-2040)Cgt>Tgt	p.R680C		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	680	Interaction with PRC1 (By similarity).		R -> H (in dbSNP:rs17116710).		axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAACGAGACCGTAAGAGGCA	0.433000														43			75		0	0	0.00361006	0	0
VWA3B	200403	broad.mit.edu	37	2	98928305	98928305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:98928305C>T	uc002syo.3	+	26	3809	c.3545C>T	c.(3544-3546)tCt>tTt	p.S1182F	VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.S839F|VWA3B_uc002syp.1_Missense_Mutation_p.S574F|VWA3B_uc002syq.1_Missense_Mutation_p.S458F|VWA3B_uc002syr.1_Missense_Mutation_p.S499F|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1182										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCGAGGAACTCTGCTTTCCTC	0.572000														16			15		0	0	0.000566183	0	0
IRGC	56269	broad.mit.edu	37	19	44224036	44224036	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44224036G>A	uc002oxh.3	+	1	1473	c.1326G>A	c.(1324-1326)agG>agA	p.R442R	IRGC_uc021uvh.1_Silent_p.R442R	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	442						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAACCTGCAGGAAGCTCGGCC	0.597000														20			11		0	0	0.000978159	0	0
ZNF597	146434	broad.mit.edu	37	16	3486990	3486991	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3486990_3486991CC>TT	uc002cvd.3	-	3	892_893	c.708_709GG>AA	c.(706-711)aaggag>aaAAag	p.E237K		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TAGGGCTTCTCCTTTACGTGGC	0.475000														47			18		0	0	6.4e-05	0	0
CNGA3	1261	broad.mit.edu	37	2	99013442	99013442	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:99013442G>A	uc010fij.3	+	7	1962	c.1821G>A	c.(1819-1821)cgG>cgA	p.R607R	CNGA3_uc002syt.3_Silent_p.R603R|CNGA3_uc002syu.3_Silent_p.R585R			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	603					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGAAAGGACGGCAGATCCTGA	0.602000														15			18		0	0	0.00074312	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131897829	131897829	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:131897829C>T	uc002tsi.4	+	5	1220	c.636C>T	c.(634-636)ccC>ccT	p.P212P	PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsg.4_Silent_p.P171P|PLEKHB2_uc002tsj.4_Silent_p.P170P|PLEKHB2_uc002tsf.4_Silent_p.P179P|PLEKHB2_uc010zap.2_Intron|PLEKHB2_uc010zaq.2_Missense_Mutation_p.P127L|PLEKHB2_uc010zao.2_Silent_p.P121P	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 3, mRNA.	171						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ATGCCGTGCCCTACCAGTACC	0.502000														15			18		0	0	0.00121646	0	0
ZNF572	137209	broad.mit.edu	37	8	125988914	125988914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:125988914C>T	uc003yrr.3	+	2	559	c.404C>T	c.(403-405)tCc>tTc	p.S135F		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TATAAATGTTCCGAATGTTGG	0.438000										HNSCC(60;0.17)				53			64		0	0	0.00361006	0	0
KDM2B	84678	broad.mit.edu	37	12	121972449	121972449	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121972449C>A	uc001uat.3	-	6	834	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	KDM2B_uc001uas.3_Missense_Mutation_p.D213Y|KDM2B_uc021rfd.1_Missense_Mutation_p.D213Y|KDM2B_uc001uau.3_Missense_Mutation_p.D127Y|KDM2B_uc021rfe.1_Missense_Mutation_p.D244Y|KDM2B_uc001uav.4_Missense_Mutation_p.D244Y	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	244	JmjC.				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						CCTCCAAAGTCGATGTGGAAG	0.478000														36			43		4.64027e-19	1.35759e-18	0.00361006	1	0
NOVA1	4857	broad.mit.edu	37	14	26917793	26917793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:26917793G>A	uc001wqa.3	-	5	1316	c.530C>T	c.(529-531)gCc>gTc	p.A177V	NOVA1_uc001wpy.3_Missense_Mutation_p.A299V|NOVA1_uc001wpz.3_Missense_Mutation_p.A275V	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	302	KH 2.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding	p.I177I(1)|p.I177L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGCTGGAAAGGCTGCAACGCC	0.473000														26			25		0	0	0.00395357	0	0
ZNF28	7576	broad.mit.edu	37	19	53304241	53304241	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53304241A>C	uc002qad.3	-	3	1014	c.857T>G	c.(856-858)cTc>cGc	p.L286R	ZNF28_uc002qac.3_Missense_Mutation_p.L232R|ZNF28_uc010eqe.3_Missense_Mutation_p.L232R|ZNF28_uc021uza.1_Missense_Mutation_p.L233R	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGAAGGAAGAGGGATGTATT	0.403000														135			27		0	0	0.000720815	0	0
KIAA0090	23065	broad.mit.edu	37	1	19566418	19566418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:19566418G>A	uc001bbo.3	-	7	891	c.848C>T	c.(847-849)cCa>cTa	p.P283L	KIAA0090_uc001bbp.3_Missense_Mutation_p.P283L|KIAA0090_uc001bbq.3_Missense_Mutation_p.P283L|KIAA0090_uc001bbr.3_Missense_Mutation_p.P261L	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	283						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		AGCGTCCACTGGGTTGGGCTG	0.532000														46			16		0	0	0.00316338	0	0
N4BP2	55728	broad.mit.edu	37	4	40104513	40104513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:40104513C>T	uc003guy.4	+	3	1386	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F	N4BP2_uc010ifq.3_Missense_Mutation_p.L270F|N4BP2_uc010ifr.3_Missense_Mutation_p.L270F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	350	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ACTTGCTCCTCTCCCATTGCT	0.507000														38			14		0	0	0.000422831	0	0
ASPG	374569	broad.mit.edu	37	14	104570685	104570685	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:104570685G>A	uc001yop.2	+	7	883	c.798G>A	c.(796-798)gaG>gaA	p.E266E	ASPG_uc001yoo.2_Silent_p.E294E|ASPG_uc001yoq.2_Silent_p.E266E|ASPG_uc001yor.2_Silent_p.E266E	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	266	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGGTCATGGAGACCTTCGGTT	0.672000														14			26		0	0	0.00106085	0	0
NTSR2	23620	broad.mit.edu	37	2	11802346	11802346	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:11802346G>A	uc002rbq.4	-	1	719	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	215					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGGGGAGCACGAAGGACACCA	0.642000														51			79		0	0	0.00361006	0	0
F13A1	2162	broad.mit.edu	37	6	6266913	6266913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:6266913G>A	uc003mwv.3	-	3	572	c.449C>T	c.(448-450)tCc>tTc	p.S150F	F13A1_uc011dib.2_Missense_Mutation_p.S87F	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	150					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACATTTGGGGGAAGACTGGAT	0.498000														57			13		0	0	0.00136819	0	0
CDCA7L	55536	broad.mit.edu	37	7	21942717	21942717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:21942717G>A	uc010kuk.3	-	8	1333	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	CDCA7L_uc003sve.4_Missense_Mutation_p.P371S|CDCA7L_uc010kul.3_Missense_Mutation_p.P359S|CDCA7L_uc003svf.4_Missense_Mutation_p.P404S	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	405					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.P404P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CCACGACAGGGGGGACACACC	0.517000														29			12		0	0	0.00244969	0	0
POTEH	23784	broad.mit.edu	37	22	16266988	16266988	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:16266988C>T	uc010gqp.2	-	8	1513	c.1461G>A	c.(1459-1461)agG>agA	p.R487R	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.R206R|POTEH_uc002zlj.1_Silent_p.R322R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	487								p.R487K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTGCTTTTCCTTGGTGGAA	0.433000														216			45		0	0	0.00361006	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755607	91755607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:91755607G>A	uc010aty.3	-	24	4437	c.4283C>T	c.(4282-4284)tCc>tTc	p.S1428F		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1428					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTCCACGGTGGATTTTAAGCG	0.572000														188			48		0	0	0.00361006	0	0
CPNE4	131034	broad.mit.edu	37	3	131404763	131404763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:131404763G>A	uc011blq.2	-	5	711	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	CPNE4_uc003eok.3_Missense_Mutation_p.R183C|CPNE4_uc003eol.3_Missense_Mutation_p.R201C|CPNE4_uc003eom.3_Missense_Mutation_p.R183C	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	183	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCATTCATACGAAAAATTTCC	0.383000														28			11		0	0	0.00136819	0	0
PABPC3	5042	broad.mit.edu	37	13	25670872	25670872	+	Missense_Mutation	SNP	G	A	A	rs139042913	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25670872G>A	uc001upy.3	+	0	597	c.536G>A	c.(535-537)cGa>cAa	p.R179Q		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	179					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGTAAAGAACGAGAAGCTGAA	0.413000														36			8		0	0	0.000274275	0	0
FLT3	2322	broad.mit.edu	37	13	28589333	28589333	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:28589333C>A	uc001urw.3	-	21	2796	c.2714G>T	c.(2713-2715)gGa>gTa	p.G905V	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.G864V	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	905	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G885fs*4(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CATTTTAAATCCATTTTGAAT	0.373000			"""Mis, O"""		"""AML, ALL"""									4			7		8.12818e-05	0.000234961	0.00198382	1	0
ZDBF2	57683	broad.mit.edu	37	2	207171067	207171067	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:207171067G>A	uc002vbp.2	+	4	2065	c.1815G>A	c.(1813-1815)ctG>ctA	p.L605L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	605							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						GAAGAAACCTGAAAGGTAGAC	0.398000														31			26		0	0	0.000720815	0	0
MRPL21	219927	broad.mit.edu	37	11	68658812	68658812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:68658812G>A	uc001ooi.3	-	6	630	c.605C>T	c.(604-606)cCg>cTg	p.P202L	MRPL21_uc001ooh.3_Missense_Mutation_p.P117L	NM_181514	NP_852616	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	202					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAACAAACACGGAGCAATCTC	0.463000														149			65		0	0	0.00361006	0	0
TMEM18	129787	broad.mit.edu	37	2	669593	669593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:669593C>T	uc002qwl.3	-	4	504	c.410G>A	c.(409-411)aGg>aAg	p.R137K	TMEM18_uc002qwk.3_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	Homo sapiens transmembrane protein 18 (TMEM18), mRNA.	137					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GTCttctttccttctcctttt	0.498000														8			29		0	0	0.000878237	0	0
SYCP1	6847	broad.mit.edu	37	1	115523998	115523998	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:115523998G>A	uc001efr.3	+	28	2633	c.2424G>A	c.(2422-2424)tgG>tgA	p.W808*	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Nonsense_Mutation_p.W808*|SYCP1_uc009wgw.3_Nonsense_Mutation_p.W783*	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	808					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATTTATTGGAAATTGGATT	0.303000														50			75		0	0	0.00361006	0	0
HERC2P9	440248	broad.mit.edu	37	15	28903876	28903876	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:28903876C>T	uc010azc.3	+	4		c.808C>T			HERC2P9_uc010uao.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		GATCCTGTCTCAGCCAGCTGT	0.488000														73			51		0	0	0.00361006	0	0
MTHFD1	4522	broad.mit.edu	37	14	64898303	64898303	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:64898303C>T	uc001xhb.3	+	13	1752	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	MTHFD1_uc010aqe.2_Silent_p.L491L|MTHFD1_uc010aqf.3_Silent_p.L511L	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	455	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTAATAACCTCGTTGCTGCGG	0.468000														22			32		0	0	0.000814825	0	0
C15orf55	256646	broad.mit.edu	37	15	34647955	34647955	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34647955G>A	uc010ucc.2	+	7	2128	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G	C15orf55_uc010ucd.2_Silent_p.G572G|C15orf55_uc001zif.3_Silent_p.G554G	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	554						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		ACAGGGATGGGAACACTCTGC	0.592000			T	"""BRD3, BRD4"""	lethal midline carcinoma									53			38		0	0	0.00128727	0	0
ARRB1	408	broad.mit.edu	37	11	74993017	74993017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:74993017C>T	uc001owe.2	-	5	627	c.403G>A	c.(403-405)Gac>Aac	p.D135N	ARRB1_uc001owf.2_Missense_Mutation_p.D135N	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	135	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TTCCCCGTGTCTTCGGGCCCC	0.592000														28			13		0	0	0.000422831	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144060	106144060	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:106144060C>G	uc004emr.2	-	3	419	c.375G>C	c.(373-375)caG>caC	p.Q125H	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.2_Missense_Mutation_p.Q78H	NM_138382	NP_612391	Q0D2K3	RIPP1_HUMAN	Homo sapiens ripply1 homolog (zebrafish) (RIPPLY1), transcript variant 1, mRNA.	125	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						TGATGGTTGCCTGGACAGGAA	0.493000														2			14		0	0	0.000422831	0	0
WBSCR22	114049	broad.mit.edu	37	7	73108352	73108353	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:73108352_73108353CC>TT	uc003tyu.3	+	9	731_732	c.673_674CC>TT	c.(673-675)ccc>TTc	p.P225F	WBSCR22_uc010lbi.1_Non-coding_Transcript|WBSCR22_uc003tyv.3_Missense_Mutation_p.P187F|WBSCR22_uc003tyt.3_Missense_Mutation_p.P225F|WBSCR22_uc022afv.1_Non-coding_Transcript|WBSCR22_uc003tyw.1_Missense_Mutation_p.P88F	NM_001202560	NP_001189489	O43709	WBS22_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 22 (WBSCR22), transcript variant 1, mRNA.	225						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGAAGTTGAACCCAGGGAGTCT	0.545000														94			25		0	0	6.4e-05	0	0
OR14J1	442191	broad.mit.edu	37	6	29275415	29275415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29275415G>A	uc011dln.2	+	0	949	c.949G>A	c.(949-951)Gcc>Acc	p.A317T		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						gtgcttaaaagccatgtttaa	0.388000														38			25		0	0	0.000878237	0	0
IL36B	27177	broad.mit.edu	37	2	113786584	113786584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:113786584C>T	uc002tiq.1	-	3	297	c.193G>A	c.(193-195)Gga>Aga	p.G65R	IL36B_uc002tir.1_Missense_Mutation_p.G65R	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	65					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CCCTTGATTCCCAGGTAAACC	0.418000														50			45		0	0	0.00285205	0	0
POM121L12	285877	broad.mit.edu	37	7	53104243	53104243	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:53104243C>T	uc003tpz.3	+	0	895	c.879C>T	c.(877-879)ccC>ccT	p.P293P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	293								p.P293H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGCTGGCCCCTTTGGCTCCT	0.607000														31			23		0	0	0.000720815	0	0
DSCR4	10281	broad.mit.edu	37	21	39427000	39427000	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:39427000C>T	uc002ywp.3	-	2	411	c.306G>A	c.(304-306)aaG>aaA	p.K102K		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	102										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						CATCTGATTTCTTGTGGAGCC	0.473000														56			50		0	0	0.00361006	0	0
EMX1	2016	broad.mit.edu	37	2	73160970	73160970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:73160970G>A	uc002sin.1	+	2	1138	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_004097	NP_004088	Q04741	EMX1_HUMAN	Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA.	221						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						GAAGCTGGAGGAGGAAGGGCC	0.597000														38			25		0	0	0.00127121	0	0
CLEC6A	93978	broad.mit.edu	37	12	8610512	8610512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:8610512C>T	uc001qum.1	+	1	167	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	17					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GGCTGGTTGTCCCTGAGACTC	0.488000														18			37		0	0	0.000953801	0	0
AP3B2	8120	broad.mit.edu	37	15	83334244	83334244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:83334244C>T	uc010uoi.2	-	15	2113	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	AP3B2_uc010uoh.2_Missense_Mutation_p.E646K|AP3B2_uc010uoj.2_Missense_Mutation_p.E614K|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Missense_Mutation_p.E282K|DQ601936_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	646	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGGCTTCCTCCGGCCAGTCT	0.592000														83			35		0	0	0.00148497	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267216	43267216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43267216G>A	uc021yzt.1	+	2	587	c.488G>A	c.(487-489)gGa>gAa	p.G163E	SLC22A7_uc010jyl.1_Missense_Mutation_p.G161E|SLC22A7_uc003ous.3_Missense_Mutation_p.G161E|SLC22A7_uc003out.3_Missense_Mutation_p.G161E	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	163						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTGGCCTTTGGATATCTGTCC	0.567000														47			50		0	0	0.00361006	0	0
ARID5A	10865	broad.mit.edu	37	2	97217808	97217808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:97217808C>T	uc002swe.3	+	6	1643	c.1543C>T	c.(1543-1545)Ccg>Tcg	p.P515S	ARID5A_uc010yuq.2_Missense_Mutation_p.P463S|ARID5A_uc002swf.3_Missense_Mutation_p.P351S|ARID5A_uc002swg.3_Missense_Mutation_p.P463S	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	515					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CACTGGCACCCCGGGCCCCTT	0.721000														19			29		0	0	0.00127121	0	0
CGNL1	84952	broad.mit.edu	37	15	57730875	57730875	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:57730875C>T	uc010bfw.3	+	2	871	c.678C>T	c.(676-678)gaC>gaT	p.D226D	CGNL1_uc002aeg.3_Silent_p.D226D	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	226	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCATAGAGGACCCCAAAAAGC	0.562000														88			36		0	0	0.00375469	0	0
C7orf42	55069	broad.mit.edu	37	7	66410104	66410104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:66410104C>T	uc003tvk.3	+	2	565	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	101						integral to membrane		p.S100>?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						CACCCAGTCCCCCCAGGCCCT	0.572000														49			34		0	0	0.00327116	0	0
DNAH17	8632	broad.mit.edu	37	17	76455266	76455266	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:76455266G>A	uc010dhp.2	-	60	9803	c.9678C>T	c.(9676-9678)ttC>ttT	p.F3226F	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTCGGGGTCGAACGTCGGGT	0.647000														103			161		0	0	0.00361006	0	0
AQP12B	653437	broad.mit.edu	37	2	241621907	241621907	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:241621907C>T	uc010fzj.3	-	0	411	c.348G>A	c.(346-348)gcG>gcA	p.A116A	AQP12B_uc002vzt.3_Non-coding_Transcript	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	104						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCCCCTGTGCCGCCAGCTTCA	0.692000														7			19		0	0	0.00121646	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753875	113753875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:113753875C>T	uc003eax.3	-	5	862	c.715G>A	c.(715-717)Gct>Act	p.A239T	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.A217T|KIAA1407_uc011bip.1_Missense_Mutation_p.A226T	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	239										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCTCCAGAGCCTTCCTTTTC	0.483000														77			65		0	0	0.00361006	0	0
RNF17	56163	broad.mit.edu	37	13	25362263	25362263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25362263C>T	uc001upr.3	+	6	790	c.749C>T	c.(748-750)tCg>tTg	p.S250L	RNF17_uc010tdd.1_Missense_Mutation_p.S109L|RNF17_uc010tde.2_Missense_Mutation_p.S250L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.S189L|RNF17_uc001upq.1_Missense_Mutation_p.S250L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	250					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTACAATTATCGCCTTCTCTA	0.299000														37			17		0	0	0.00121646	0	0
AES	166	broad.mit.edu	37	19	3054025	3054025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3054025G>A	uc002lxb.1	-	6	626	c.587C>T	c.(586-588)gCc>gTc	p.A196V	AES_uc002lwx.1_3'UTR|AES_uc002lwy.1_Missense_Mutation_p.A129V|AES_uc002lwz.1_Missense_Mutation_p.A128V	NM_198969	NP_945320	Q08117	AES_HUMAN	Homo sapiens amino-terminal enhancer of split (AES), transcript variant 1, mRNA.	129	CCN domain.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity	p.A196D(2)|p.A196T(1)		lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGGTGGGCTTGGAGCTG	0.716000														1			7		0	0	0.00198382	0	0
MGAM	8972	broad.mit.edu	37	7	141752244	141752244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141752244G>A	uc003vwy.3	+	24	3010	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	986	P-type 2.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTATCTGGGAGGTAACCAT	0.433000														41			7		0	0	0.000442599	0	0
C8orf34	116328	broad.mit.edu	37	8	69552622	69552622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:69552622G>A	uc010lyz.3	+	7	1408	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	C8orf34_uc003xyb.3_Missense_Mutation_p.D262N	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	287					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGATCTTAATGATTTAAGAAT	0.398000														25			22		0	0	0.00332997	0	0
TTF1	7270	broad.mit.edu	37	9	135266135	135266135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:135266135G>A	uc004cbl.3	-	6	2140	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	TTF1_uc004cbm.3_Missense_Mutation_p.P176S|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	691	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AACTCCTGGGGAGACATCTTC	0.408000														19			97		0	0	0.00361006	0	0
MORC1	27136	broad.mit.edu	37	3	108698393	108698393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108698393C>T	uc003dxl.3	-	23	2533	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	MORC1_uc011bhn.2_Missense_Mutation_p.E795K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	816					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACTGTTTCCTTGACAGGT	0.398000														70			67		0	0	0.00361006	0	0
CEP120	153241	broad.mit.edu	37	5	122722351	122722351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:122722351G>A	uc003ktk.3	-	10	1557	c.1441C>T	c.(1441-1443)Cca>Tca	p.P481S	CEP120_uc010jcz.2_Missense_Mutation_p.P455S|CEP120_uc011cwq.2_Missense_Mutation_p.P290S	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	481						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CCAAAGAATGGATATGAGTAC	0.303000														25			14		0	0	0.00185496	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642816	1642816	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:1642816A>C	uc009ycy.1	-	2	490	c.403T>G	c.(403-405)Tgt>Ggt	p.C135G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	230	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATGACCCACAACCTGAGGAG	0.612000														56			36		0	0	0.00111076	0	0
LMAN1L	79748	broad.mit.edu	37	15	75114199	75114199	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:75114199C>T	uc002ayt.1	+	9	1091	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	LMAN1L_uc010bke.1_Silent_p.S351S	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	363						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATTCCATCCACCCCAGGGA	0.612000														39			45		0	0	0.00361006	0	0
FGD6	55785	broad.mit.edu	37	12	95603750	95603750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:95603750G>A	uc001tdp.4	-	1	1534	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	437					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACAGCAAGCGACATACTAGA	0.393000														76			29		0	0	0.000878237	0	0
SCN5A	6331	broad.mit.edu	37	3	38592273	38592273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38592273C>T	uc021wvo.1	-	26	5642	c.5590G>A	c.(5590-5592)Gag>Aag	p.E1864K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1831K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1810K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1846K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1863K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1864K|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.E1676K|SCN5A_uc021wvi.1_Missense_Mutation_p.E1730K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1864					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)	TCCCCAGACTCCCCCAGGACC	0.557000														80			32		0	0	0.00327116	0	0
SLURP1	57152	broad.mit.edu	37	8	143822687	143822687	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:143822687G>A	uc003ywy.3	-	2	212	c.186C>T	c.(184-186)ccC>ccT	p.P62P		NM_020427	NP_065160	P55000	SLUR1_HUMAN	Homo sapiens secreted LY6/PLAUR domain containing 1 (SLURP1), mRNA.	62	UPAR/Ly6.				cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCTGGTTGAAGGGGTACTCTG	0.682000														16			8		0	0	0.00307968	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745953	77745953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:77745953C>T	uc002snr.3	-	2	1457	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	LRRTM4_uc002snq.3_Missense_Mutation_p.E348K|LRRTM4_uc002sns.2_Missense_Mutation_p.E348K|LRRTM4_uc002snt.2_Missense_Mutation_p.E349K	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	348	LRRCT.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTAACCTTTTCACCCTGGATG	0.433000														14			7		0	0	0.00198382	0	0
PMEPA1	56937	broad.mit.edu	37	20	56234731	56234731	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:56234731G>A	uc002xyq.3	-	1	525	c.132C>T	c.(130-132)atC>atT	p.I44I	PMEPA1_uc002xyr.3_5'UTR|PMEPA1_uc002xys.3_Silent_p.I9I|PMEPA1_uc002xyt.3_5'UTR	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	44					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CGATGATGATGATCTGAACAA	0.572000														8			5		0	0	0.000602214	0	0
PRDM9	56979	broad.mit.edu	37	5	23526472	23526472	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:23526472C>T	uc003jgo.3	+	10	1457	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	425					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAAACTCCTCCAACCAGAGA	0.463000										HNSCC(3;0.000094)				7			77		0	0	0.00361006	0	0
TEX15	56154	broad.mit.edu	37	8	30705720	30705720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:30705720G>A	uc003xil.3	-	0	814	c.814C>T	c.(814-816)Cca>Tca	p.P272S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	272										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTATCTATTGGACTGATTTTT	0.313000														63			17		0	0	0.00121646	0	0
LRRC43	254050	broad.mit.edu	37	12	122669284	122669284	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:122669284C>T	uc009zxm.3	+	1	394	c.369C>T	c.(367-369)ttC>ttT	p.F123F	LRRC43_uc001ubw.4_5'UTR|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	123										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CAGACACCTTCTTCTACTCCT	0.572000														12			6		0	0	0.00116845	0	0
NLRC3	197358	broad.mit.edu	37	16	3613900	3613900	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3613900C>T	uc010btn.3	-	4	1449	c.1038G>A	c.(1036-1038)agG>agA	p.R346R		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	346	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGGCCCCGTCCTGCTGCGCC	0.662000														13			33		0	0	0.000814825	0	0
DOCK7	85440	broad.mit.edu	37	1	63018492	63018492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:63018492G>A	uc001daq.3	-	21	2711	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C	DOCK7_uc001dan.3_Missense_Mutation_p.R785C|DOCK7_uc001dao.3_Missense_Mutation_p.R785C|DOCK7_uc001dap.3_Missense_Mutation_p.R893C|DOCK7_uc001dam.3_Missense_Mutation_p.R73C	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	893					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTCGAGAACGATTTAAATTA	0.443000														60			18		0	0	0.000566183	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370262	35370262	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:35370262C>T	uc001byc.3	-	0	723	c.723G>A	c.(721-723)agG>agA	p.R241R		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	241					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGCTCTTGCTCCTCTTGCCGT	0.647000														34			79		0	0	0.00361006	0	0
PCLO	27445	broad.mit.edu	37	7	82584101	82584101	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82584101C>T	uc003uhx.2	-	4	6457	c.6168G>A	c.(6166-6168)agG>agA	p.R2056R	PCLO_uc003uhv.2_Silent_p.R2056R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1987					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E2055K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGTAGTTTCCTTTCTTCTT	0.448000														84			15		0	0	0.00244969	0	0
NLRP9	338321	broad.mit.edu	37	19	56223323	56223323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56223323G>A	uc002qly.3	-	7	2714	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	896						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CGGGTGATCGGACACGTTTGC	0.547000														15			38		0	0	0.00195071	0	0
ACSBG1	23205	broad.mit.edu	37	15	78475076	78475076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:78475076G>A	uc002bdh.3	-	5	921	c.715C>T	c.(715-717)Cct>Tct	p.P239S	ACSBG1_uc010umx.2_5'UTR|ACSBG1_uc010umw.2_Missense_Mutation_p.P235S|ACSBG1_uc010umy.2_Missense_Mutation_p.P132S	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	239					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TTGTTTGGAGGAGGTTCTTTA	0.517000														61			58		0	0	0.00361006	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41057398	41057398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:41057398C>T	uc003jmj.4	-	7	1311	c.821G>A	c.(820-822)aGa>aAa	p.R274K	HEATR7B2_uc003jmi.4_Intron|HEATR7B2_uc021xxt.1_Missense_Mutation_p.R274K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	274							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AAAGATGGATCTTCTCAAGCT	0.413000														2			6		0	0	0.00198382	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711711	155711711	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:155711711C>T	uc002tyv.1	+	2	1587	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	464					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATCCCATGAGCCAGTCTGTGG	0.448000														30			36		0	0	0.00111076	0	0
ROS1	6098	broad.mit.edu	37	6	117658463	117658463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:117658463C>T	uc003pxp.1	-	30	5319	c.5120G>A	c.(5119-5121)aGc>aAc	p.S1707N	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1707	Fibronectin type-III 8.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGACCTTGGCTGCATGAAGT	0.323000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									6			39		0	0	0.00321405	0	0
SRP19	6728	broad.mit.edu	37	5	112198222	112198222	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:112198222C>A	uc003kqc.3	+	1	248	c.59C>A	c.(58-60)cCt>cAt	p.P20H	SRP19_uc021yck.1_Intron|SRP19_uc003kqb.2_Missense_Mutation_p.P20H|SRP19_uc021ycl.1_Missense_Mutation_p.P20H|SRP19_uc011cvu.2_Missense_Mutation_p.P20H	NM_003135	NP_003126	P09132	SRP19_HUMAN	Homo sapiens signal recognition particle 19kDa (SRP19), transcript variant 1, mRNA.	20					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TGTATCTATCCTGCTTATTTA	0.473000														13			13		4.3838e-07	1.27157e-06	0.00185496	1	0
MUC16	94025	broad.mit.edu	37	19	9072421	9072421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9072421C>T	uc002mkp.3	-	2	15229	c.15025G>A	c.(15025-15027)Gga>Aga	p.G5009R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5011	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						TGTGAAAATCCATGAGTCATA	0.488000														68			23		0	0	0.00395357	0	0
PLCH1	23007	broad.mit.edu	37	3	155203476	155203476	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:155203476C>T	uc021xge.1	-	21	2944	c.2667G>A	c.(2665-2667)aaG>aaA	p.K889K	PLCH1_uc021xgd.1_Silent_p.K889K|PLCH1_uc021xgf.1_Silent_p.K851K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	889					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGAACAGTCCCTTCAGACCCT	0.433000														17			19		0	0	0.00188189	0	0
ATP2B2	491	broad.mit.edu	37	3	10452327	10452327	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:10452327G>A	uc003bvt.3	-	2	811	c.372C>T	c.(370-372)taC>taT	p.Y124Y	ATP2B2_uc003bvv.3_Silent_p.Y124Y|ATP2B2_uc003bvw.3_Silent_p.Y124Y|ATP2B2_uc010hdp.2_Silent_p.Y124Y|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	124					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGGCGGGTGGTAGAAGGACA	0.652000														125			48		0	0	0.00361006	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617744	111617744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:111617744G>A	uc004bdi.3	-	0	532	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	156						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTGCTGCTGGGGCTGAGCGG	0.612000														3			49		0	0	0.00361006	0	0
MORN1	79906	broad.mit.edu	37	1	2268200	2268200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:2268200G>A	uc001ajb.1	-	10	1147	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	MORN1_uc009vld.3_Missense_Mutation_p.P352S	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	376										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TACCCAGGCGGGGGCGGCCCC	0.682000														32			8		0	0	0.000673444	0	0
TLE2	7089	broad.mit.edu	37	19	3009539	3009539	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3009539C>T	uc010dth.3	-	13	1439	c.1176_splice	c.e13+1	p.V392_splice	TLE2_uc010xhb.2_Splice_Site_p.V58_splice|TLE2_uc002lww.3_Splice_Site_p.V391_splice|TLE2_uc010xhc.2_Splice_Site_p.V269_splice|TLE2_uc010dti.3_Splice_Site_p.V405_splice|TLE2_uc010xhd.1_Splice_Site_p.V299_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	391	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGACTCACCACGGGGGAG	0.652000														17			5		0	0	0.00198382	0	0
OR12D3	81797	broad.mit.edu	37	6	29342848	29342848	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29342848A>C	uc003nme.3	-	0	221	c.217T>G	c.(217-219)Tca>Gca	p.S73A		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AGTGTCACTGAAGAATAAGAA	0.433000														20			19		0	0	0.00152264	0	0
COL24A1	255631	broad.mit.edu	37	1	86289269	86289269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:86289269C>T	uc001dlj.3	-	44	3814	c.3739G>A	c.(3739-3741)Gaa>Aaa	p.E1247K	COL24A1_uc001dli.3_Missense_Mutation_p.E383K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E547K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1247	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCACCTGGTTCGCCCTTTAGT	0.313000														76			14		0	0	0.00185496	0	0
GALNT9	50614	broad.mit.edu	37	12	132683748	132683748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:132683748G>A	uc001ukc.4	-	8	1584	c.1468C>T	c.(1468-1470)Ctc>Ttc	p.L490F	GALNT9_uc009zyr.3_Missense_Mutation_p.L264F|GALNT9_uc001ukb.3_Missense_Mutation_p.L347F|GALNT9_uc001uka.3_Missense_Mutation_p.L124F	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	490	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGGGGTAGAGGATCGCCCGG	0.647000														37			7		0	0	0.000673444	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316043	30316043	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:30316043C>A	uc009xle.2	-	2	3171	c.3034G>T	c.(3034-3036)Gtg>Ttg	p.V1012L	KIAA1462_uc001iux.3_Missense_Mutation_p.V1012L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.V874L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1012										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTGGTTTCACAGAGCTGAAA	0.562000														49			74		9.42754e-34	2.77136e-33	0.00361006	1	0
CDYL2	124359	broad.mit.edu	37	16	80718715	80718715	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:80718715G>A	uc002ffs.3	-	1	441	c.336C>T	c.(334-336)ccC>ccT	p.P112P		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	112						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCTTGGCCAGGGGAGGGTTAA	0.547000														29			14		0	0	0.00185496	0	0
SMO	6608	broad.mit.edu	37	7	128845484	128845484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:128845484C>T	uc003vor.3	+	3	1061	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	SMO_uc003vos.3_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	261					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAACTCGAATCGCTACCCTGC	0.537000			Mis		skin basal cell									118			57		0	0	0.00361006	0	0
PCNX	22990	broad.mit.edu	37	14	71575703	71575703	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:71575703C>T	uc001xmo.2	+	33	7130	c.6684C>T	c.(6682-6684)aaC>aaT	p.N2228N	PCNX_uc010are.1_Silent_p.N2117N|PCNX_uc010arf.1_Silent_p.N1016N|PCNX_uc001xmp.2_Silent_p.N312N	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	2228						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)		AGCCAGGCAACACCTTAAGTC	0.512000														48			21		0	0	0.00278032	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994871	140994871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140994871C>T	uc004fbt.3	+	3	2005	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P220S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	561							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTATCTCCTCACTACTT	0.572000										HNSCC(15;0.026)				22			89		0	0	0.00361006	0	0
LOC100192204	100192204	broad.mit.edu	37	10	15197273	15197273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:15197273G>A	uc010qca.1	-	0	74	c.47C>T	c.(46-48)gCc>gTc	p.A16V	NMT2_uc001inz.1_Intron|NMT2_uc001ioa.1_Intron|NMT2_uc010qbz.1_Intron					Homo sapiens peptidylprolyl isomerase A (cyclophilin A) pseudogene (LOC100192204), non-coding RNA.																		GTGCCCCAAGGCCTCGCTGTT	0.507000														29			9		0	0	0.000274275	0	0
GRM2	2912	broad.mit.edu	37	3	51749229	51749229	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:51749229G>A	uc010hlv.3	+	3	1679	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	480					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCTTGACTCTGGACACCAGCC	0.617000														0			9		0	0	0.000442599	0	0
MYLK	4638	broad.mit.edu	37	3	123419583	123419583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:123419583G>A	uc003ego.3	-	17	3014	c.2732C>T	c.(2731-2733)tCg>tTg	p.S911L	MYLK_uc011bjw.2_Missense_Mutation_p.S911L|MYLK_uc003egp.3_Missense_Mutation_p.S842L|MYLK_uc003egq.3_Missense_Mutation_p.S911L|MYLK_uc003egr.3_Missense_Mutation_p.S842L|MYLK_uc003egs.3_Missense_Mutation_p.S735L|MYLK_uc003egt.3_Missense_Mutation_p.S102L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	911	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.L910I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCGTCTTCCGATAGGGTCTT	0.582000														43			59		0	0	0.00361006	0	0
SIX1	6495	broad.mit.edu	37	14	61113243	61113243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:61113243G>A	uc001xfb.4	-	1	861	c.613C>T	c.(613-615)Cct>Tct	p.P205S		NM_005982	NP_005973	Q15475	SIX1_HUMAN	Homo sapiens SIX homeobox 1 (SIX1), mRNA.	205					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCTTCCAGAGGAGAGAGTTGG	0.458000														27			43		0	0	0.00361006	0	0
FCRL1	115350	broad.mit.edu	37	1	157773774	157773774	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:157773774G>A	uc001frg.3	-	2	293	c.180C>T	c.(178-180)gcC>gcT	p.A60A	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Silent_p.A60A|FCRL1_uc001fri.3_Silent_p.A60A|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	60	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.A60A(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGGGCCCAAGGCCCGGGTGT	0.577000														34			57		0	0	0.00361006	0	0
FSCB	84075	broad.mit.edu	37	14	44975634	44975634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:44975634G>A	uc001wvn.3	-	0	866	c.557C>T	c.(556-558)tCg>tTg	p.S186L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	186						cilium		p.S186S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTTCCCGACGATTTATGTTT	0.373000														103			40		0	0	0.00148497	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977612	12977612	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:12977612G>A	uc003bxt.2	-	2	955	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	IQSEC1_uc003bxu.3_Silent_p.L194L|IQSEC1_uc011auw.1_Silent_p.L302L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	316					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGAGGGGCAGAGGGGGCGAC	0.677000														35			48		0	0	0.00361006	0	0
DNMBP	23268	broad.mit.edu	37	10	101715157	101715158	+	Missense_Mutation	DNP	GG	AA	AA	rs148247428		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:101715157_101715158GG>AA	uc001kqj.2	-	3	2165_2166	c.2073_2074CC>TT	c.(2071-2076)tgcccc>tgTTcc	p.P692S	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	692					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGCACTAAGGGGCATGGGGAGG	0.530000														0			24		0	0	6.4e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794330	140794330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140794330C>T	uc003lkl.2	+	0	1588	c.1588C>T	c.(1588-1590)Cat>Tat	p.H530Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.H530Y|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	528	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCAGTTTCATGAGCTACA	0.532000														72			85		0	0	0.00361006	0	0
NFASC	23114	broad.mit.edu	37	1	204985599	204985599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:204985599G>A	uc010prc.2	+	26	3684	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	NFASC_uc001hbj.3_Missense_Mutation_p.E1219K|NFASC_uc010pra.2_Missense_Mutation_p.E1153K|NFASC_uc001hbi.3_Missense_Mutation_p.E1148K|NFASC_uc010prb.2_Missense_Mutation_p.E1168K|NFASC_uc001hbl.2_Missense_Mutation_p.E295K|NFASC_uc001hbm.2_Missense_Mutation_p.E242K|NFASC_uc009xbh.2_Silent_p.R73R|NFASC_uc001hbo.2_Silent_p.R94R			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1326	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAAGGACAAGGAGGAAACAGA	0.572000														39			15		0	0	0.000566183	0	0
CTC1	80169	broad.mit.edu	37	17	8137885	8137886	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:8137885_8137886GG>AC	uc002gkq.4	-	9	1764_1765	c.1705_1706CC>GT	c.(1705-1707)cct>GTt	p.P569V	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	569					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAGGGCCTTAGGGTCAAAGGAG	0.634000														2			13		0	0	6.4e-05	0	0
RIC3	79608	broad.mit.edu	37	11	8132302	8132302	+	Silent	SNP	G	A	A	rs17852022	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:8132302G>A	uc010rbm.1	-	5	1191	c.1137C>T	c.(1135-1137)acC>acT	p.T379T	RIC3_uc001mgb.2_Silent_p.T189T|RIC3_uc010rbl.1_Silent_p.T301T|RIC3_uc001mgd.2_Silent_p.T351T|RIC3_uc001mgc.2_Silent_p.T350T|RIC3_uc009yfm.2_Silent_p.T270T|RIC3_uc001mge.2_Silent_p.T169T|RIC3_uc009yfn.2_Silent_p.T154T	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	351						Golgi membrane|endoplasmic reticulum membrane|integral to membrane		p.T350T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATGCTTTATCGGTGCTGATGC	0.478000														51			34		0	0	0.000814825	0	0
NUP210L	91181	broad.mit.edu	37	1	153973397	153973397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:153973397G>A	uc001fdw.3	-	36	5393	c.5321C>T	c.(5320-5322)tCc>tTc	p.S1774F	NUP210L_uc009woq.3_Missense_Mutation_p.S683F|NUP210L_uc010peh.2_Intron	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1774						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAGTACACAGGAAATATTGAT	0.453000														79			123		0	0	0.00361006	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:3235706C>T	uc004crg.4	-	5	6173	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2006	Ig-like C2-type 4.					extracellular region		p.H2005H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000														3			25		0	0	0.000720815	0	0
MAP3K5	4217	broad.mit.edu	37	6	136980431	136980431	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:136980431G>A	uc003qhc.3	-	8	1813	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	MAP3K5_uc011edj.2_5'Flank|MAP3K5_uc011edk.1_Silent_p.A329A|MAP3K5_uc010kgw.1_Silent_p.A484A	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	484					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTAGGACGCTGGCCCCCAGAA	0.403000														5			40		0	0	0.00170553	0	0
NOS1	4842	broad.mit.edu	37	12	117681136	117681136	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:117681136G>A	uc001twn.2	-	19	3741	c.3030C>T	c.(3028-3030)ctC>ctT	p.L1010L	NOS1_uc021ren.1_Silent_p.L640L|NOS1_uc021reo.1_Silent_p.L640L|NOS1_uc001twm.2_Silent_p.L976L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	976	FAD-binding FR-type.				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	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme 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)	CCACAAAGGTGAGGCGGAACT	0.517000														55			19		0	0	0.00229938	0	0
CHPF	79586	broad.mit.edu	37	2	220406679	220406679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:220406679G>A	uc002vmc.4	-	1	774	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	CHPF_uc010zlh.2_Missense_Mutation_p.H21Y|TMEM198_uc002vme.3_5'Flank|TMEM198_uc002vmf.3_5'Flank	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	183						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCCAGCAGGTGGCGCAGCGCC	0.687000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			13		0	0	0.00185496	0	0
GDF15	9518	broad.mit.edu	37	19	18499352	18499352	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:18499352C>T	uc002niv.2	+	1	566	c.534C>T	c.(532-534)ccC>ccT	p.P178P		NM_004864	NP_004855	Q99988	GDF15_HUMAN	Homo sapiens growth differentiation factor 15 (GDF15), mRNA.	178					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CCGCACGGCCCCAGCTGGAGT	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			6		0	0	0.00116845	0	0
RAB8A	4218	broad.mit.edu	37	19	16238862	16238862	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:16238862C>T	uc002ndn.4	+	5	663	c.441C>T	c.(439-441)ttC>ttT	p.F147F	RAB8A_uc010xpc.2_Silent_p.F147F|AK095221_uc021uqd.1_Intron|RAB8A_uc002ndo.4_Missense_Mutation_p.H26Y	NM_005370	NP_005361	P61006	RAB8A_HUMAN	Homo sapiens RAB8A, member RAS oncogene family (RAB8A), mRNA.	147					Golgi vesicle fusion to target membrane|cilium assembly|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GAATCAAGTTCATGGAGACCA	0.597000														37			14		0	0	0.00316338	0	0
ASPH	444	broad.mit.edu	37	8	62489366	62489367	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:62489366_62489367GG>AA	uc003xuj.3	-	15	1382_1383	c.1113_1114CC>TT	c.(1111-1116)taccct>taTTct	p.P372S	ASPH_uc011leg.2_Missense_Mutation_p.P343S|ASPH_uc003xuo.2_Missense_Mutation_p.P353S	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	372					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGACTCTGAGGGTATTTGCGTA	0.347000														62			45		0	0	6.4e-05	0	0
BIRC7	79444	broad.mit.edu	37	20	61870912	61870912	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:61870912C>T	uc002yej.3	+	5	1025	c.852C>T	c.(850-852)atC>atT	p.I284I	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.3_Silent_p.I266I	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA.	284					DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					TGTGCCCCATCTGCAGAGCCC	0.716000														21			20		0	0	0.00188189	0	0
SYNE1	23345	broad.mit.edu	37	6	152651188	152651188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:152651188C>T	uc021zhb.1	-	75	14855	c.14632G>A	c.(14632-14634)Gaa>Aaa	p.E4878K	SYNE1_uc003qot.4_Missense_Mutation_p.E4807K|SYNE1_uc003qou.4_Missense_Mutation_p.E4878K|SYNE1_uc010kiz.3_Missense_Mutation_p.E633K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4878					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCACATTCTGTCACCGTC	0.537000										HNSCC(10;0.0054)				5			31		0	0	0.00375469	0	0
TBX20	57057	broad.mit.edu	37	7	35288414	35288414	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:35288414C>T	uc011kas.2	-	2	900	c.420G>A	c.(418-420)gtG>gtA	p.V140V		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	140						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCTCAGGATCCACCCCCGAAA	0.547000														34			22		0	0	0.00332997	0	0
MRPL39	54148	broad.mit.edu	37	21	26960092	26960092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:26960092G>A	uc002yln.3	-	9	993	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	MRPL39_uc002ylo.3_Intron	NM_080794	NP_542984	Q9NYK5	RM39_HUMAN	Homo sapiens mitochondrial ribosomal protein L39 (MRPL39), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	0						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AGGAGAATGGGAAATGGAGTC	0.373000														36			20		0	0	0.00121646	0	0
OTOF	9381	broad.mit.edu	37	2	26702507	26702507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:26702507C>T	uc002rhk.3	-	16	2054	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	643					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCAACTTCGTTCCCATAG	0.627000														49			12		0	0	0.000422831	0	0
UBN1	29855	broad.mit.edu	37	16	4910869	4910869	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:4910869C>T	uc002cyb.3	+	6	1215	c.876C>T	c.(874-876)ctC>ctT	p.L292L	UBN1_uc010uxw.2_Silent_p.L292L|UBN1_uc002cyc.3_Silent_p.L292L	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	292					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGCTCTCACTCTTTGGCTCTA	0.572000														37			61		0	0	0.00361006	0	0
AZU1	566	broad.mit.edu	37	19	831860	831860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:831860G>A	uc002lpz.1	+	4	755	c.739G>A	c.(739-741)Gga>Aga	p.G247R		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	247					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACAACCCGGGACCGGGGCC	0.706000														34			42		0	0	0.00361006	0	0
CD300E	342510	broad.mit.edu	37	17	72608905	72608905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:72608905G>A	uc002jlb.2	-	3	642	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	169						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCTGCTGAGCCGGAACCTG	0.622000														50			23		0	0	0.000878237	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32549441	32549441	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32549441C>G	uc003obp.4	-	2	639	c.545G>C	c.(544-546)tGg>tCg	p.W182S	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_Missense_Mutation_p.W12S|HLA-DRB5_uc011dqc.1_Missense_Mutation_p.W12S	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	182	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CTGGAAGGTCCAGTCTCCATT	0.552000														96			10		0	0	0.00074312	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685743	108685743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:108685743G>A	uc009zuw.3	-	2	1188	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	CMKLR1_uc001tmw.3_Missense_Mutation_p.R333C|CMKLR1_uc001tmv.3_Missense_Mutation_p.R331C|CMKLR1_uc009zuv.3_Missense_Mutation_p.R333C|CMKLR1_uc021rdj.1_Missense_Mutation_p.R331C	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	333					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.R331G(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TTGACCAGGCGAGAGAAGAGG	0.488000														31			29		0	0	0.00127121	0	0
EPPK1	83481	broad.mit.edu	37	8	144942631	144942631	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:144942631C>T	uc003zaa.1	-	0	4804	c.4791G>A	c.(4789-4791)cgG>cgA	p.R1597R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1597						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R1597W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGTGCCAGGCCGCAGGATGT	0.642000														19			25		0	0	0.00395357	0	0
OBSCN	84033	broad.mit.edu	37	1	228471227	228471227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228471227G>A	uc009xez.1	+	32	8805	c.8761G>A	c.(8761-8763)Gag>Aag	p.E2921K	OBSCN_uc001hsn.3_Missense_Mutation_p.E2921K|OBSCN_uc001hsp.1_Missense_Mutation_p.E620K|OBSCN_uc001hsq.1_Missense_Mutation_p.E177K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2921	Ig-like 29.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				CTTCACAGAGGAGCTGACCAA	0.612000														17			27		0	0	0.00283554	0	0
THAP9	79725	broad.mit.edu	37	4	83839111	83839111	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:83839111G>A	uc003hnt.2	+	4	1865	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	THAP9_uc003hns.1_Silent_p.E438E|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Silent_p.E299E	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	582							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCAATGCTGAGAGCTTAAAAT	0.333000														16			17		0	0	0.000566183	0	0
NOL4	8715	broad.mit.edu	37	18	31802988	31802988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:31802988G>A	uc010dmi.3	-	0	528	c.230C>T	c.(229-231)gCc>gTc	p.A77V	NOL4_uc002kxr.4_5'Flank|NOL4_uc010xbt.2_5'Flank|NOL4_uc010dmh.3_5'Flank|NOL4_uc010xbu.2_Missense_Mutation_p.A77V|NOL4_uc002kxt.4_Missense_Mutation_p.A77V	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	77						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CACTTGCTTGGCGCCGCCGCC	0.622000														30			15		0	0	0.000422831	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1818312	1818312	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:1818312C>T	uc010uvl.2	+	29	3795	c.3675C>T	c.(3673-3675)tcC>tcT	p.S1225S	MAPK8IP3_uc002cmk.3_Silent_p.S1224S|MAPK8IP3_uc002cml.3_Silent_p.S1214S|MAPK8IP3_uc021tah.1_Silent_p.S1218S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	1224					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCTACTGCTCCATGGCCCAGG	0.662000														66			31		0	0	0.00283554	0	0
RBM47	54502	broad.mit.edu	37	4	40440409	40440409	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:40440409G>A	uc003gvc.2	-	3	1212	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	RBM47_uc003gvd.2_Silent_p.L168L|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.L130L|RBM47_uc003gvg.1_Silent_p.L168L	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	168	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATCTCCTCCAGGATTTCCTCG	0.642000														50			32		0	0	0.00375469	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140763703	140763703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140763703G>A	uc003lka.2	+	0	1237	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.E413K	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	415	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGACCGGGAAACACTCTC	0.413000														13			5		0	0	0.00116845	0	0
GPR139	124274	broad.mit.edu	37	16	20043243	20043243	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20043243G>A	uc002dgu.1	-	1	1038	c.876C>T	c.(874-876)ttC>ttT	p.F292F	GPR139_uc010vaw.1_Silent_p.F199F	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	292						integral to membrane|plasma membrane		p.R291W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCATGGTGCGGAACCGCTTGC	0.507000														54			67		0	0	0.00361006	0	0
IL1RL1	9173	broad.mit.edu	37	2	102958747	102958747	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:102958747G>A	uc002tbu.1	+	5	946	c.675G>A	c.(673-675)gtG>gtA	p.V225V	IL1RL1_uc010ywa.2_Silent_p.V108V|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.V225V	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	225	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TAAAGGAAGTGGAAATTGGTA	0.378000														50			37		0	0	0.00195071	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434766	42434766	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:42434766G>A	uc001zoz.3	-	18	2381	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	PLA2G4F_uc010bcq.3_Silent_p.F60F|PLA2G4F_uc001zoy.3_Silent_p.F395F|PLA2G4F_uc001zpa.3_Silent_p.F514F|PLA2G4F_uc010bcr.3_Silent_p.F514F|PLA2G4F_uc010bcs.3_Silent_p.F550F	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	763	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TAACCAGGGGGAAGTGCAGCA	0.632000														43			35		0	0	0.00195071	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799767	159799767	+	Missense_Mutation	SNP	G	A	A	rs140969397		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159799767G>A	uc001fue.4	+	1	362	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	51						integral to membrane		p.R51Q(2)|p.W50*(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GCTATCTGGCGATCTCTCTGG	0.612000														127			72		0	0	0.00361006	0	0
HEXA	3073	broad.mit.edu	37	15	72643516	72643516	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:72643516G>A	uc002aun.4	-	5	837	c.630C>T	c.(628-630)tcC>tcT	p.S210S	BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Silent_p.S221S|HEXA_uc010bix.3_Silent_p.S210S|HEXA_uc010biy.2_Silent_p.S73S|HEXA_uc010uko.1_Silent_p.S36S	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	210			S -> F (in GM2G1; infantile).		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	p.S210A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CATATGGGAAGGAAGGATCAT	0.453000														38			32		0	0	0.00327116	0	0
APBA1	320	broad.mit.edu	37	9	72055996	72055996	+	Silent	SNP	G	A	A	rs143924269	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:72055996G>A	uc004ahh.2	-	10	2493	c.2217C>T	c.(2215-2217)atC>atT	p.I739I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	739	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GACATCTCACGATATTCAGCT	0.458000														6			48		0	0	0.00361006	0	0
MCM3AP	8888	broad.mit.edu	37	21	47679005	47679005	+	Splice_Site	SNP	C	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:47679005C>A	uc002zir.1	-	16	3618	c.3582_splice	c.e16-1	p.K1194_splice	MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Splice_Site_p.K121_splice	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1194					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTACTGCATTCCTAGAAACAG	0.547000														60			56		9.39563e-20	2.75123e-19	0.00361006	1	0
ENGASE	64772	broad.mit.edu	37	17	77079621	77079621	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:77079621C>T	uc002jwv.3	+	8	1208	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	ENGASE_uc002jww.3_Silent_p.F106F	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	400						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTTGCCTTTCGTCACGTCCT	0.627000														24			26		0	0	0.00283554	0	0
RORA	6095	broad.mit.edu	37	15	60806938	60806938	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:60806938G>A	uc002agv.3	-	4	556	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	BC035094_uc002ags.1_Intron|RORA_uc002agt.4_Nonsense_Mutation_p.Q46*|RORA_uc021sni.1_Nonsense_Mutation_p.Q45*|RORA_uc002agw.3_Nonsense_Mutation_p.Q126*|RORA_uc002agx.3_Nonsense_Mutation_p.Q101*	NM_134260	NP_599022	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA.	134					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTGCTTTGCTGACTTCTCCTG	0.428000														28			40		0	0	0.00222228	0	0
OR4X2	119764	broad.mit.edu	37	11	48266881	48266881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48266881G>A	uc001ngs.1	+	0	226	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACTCATCTCAGATCTGCTGGC	0.512000														46			67		0	0	0.00361006	0	0
OR2L3	391192	broad.mit.edu	37	1	248224344	248224344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:248224344C>T	uc001idx.1	+	0	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTACATTGC	0.443000														59			95		0	0	0.00361006	0	0
POU2F3	25833	broad.mit.edu	37	11	120180244	120180244	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:120180244C>T	uc021qrk.1	+	9	1057	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	POU2F3_uc001pxc.3_Silent_p.I339I|POU2F3_uc010rzk.2_Silent_p.I293I|POU2F3_uc010rzl.2_Silent_p.I269I|POU2F3_uc001pxe.1_Silent_p.I124I	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	339					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGAAGCGAATCAACTGCCCTG	0.567000														6			13		0	0	0.00244969	0	0
C1orf114	57821	broad.mit.edu	37	1	169391163	169391163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:169391163G>A	uc001gga.1	-	2	674	c.506C>T	c.(505-507)aCt>aTt	p.T169I	C1orf114_uc001gfz.1_Missense_Mutation_p.T169I|C1orf114_uc009wvq.1_Missense_Mutation_p.T169I|C1orf114_uc001ggb.3_Missense_Mutation_p.T169I|C1orf114_uc001ggc.1_Missense_Mutation_p.T169I	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	169										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					AAAAGTAGTAGTGTCTTCTAG	0.353000														49			26		0	0	0.00332997	0	0
FLRT1	23769	broad.mit.edu	37	11	63884858	63884858	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:63884858C>T	uc021qks.1	+	0	1119	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.S373S	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	345					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						ACATTACCAGCGAGATGGACG	0.682000														24			23		0	0	0.00395357	0	0
PLAUR	5329	broad.mit.edu	37	19	44160715	44160716	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44160715_44160716CC>TA	uc002oxf.2	-	3	613_614	c.387_388GG>TA	c.(385-390)aggggc>agTAgc	p.129_130RG>SS	PLAUR_uc002oxd.2_Missense_Mutation_p.129_130RG>SS|PLAUR_uc002oxg.2_Missense_Mutation_p.129_130RG>SS	NM_002659	NP_002650	Q03405	UPAR_HUMAN	Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 1, mRNA.	129	UPAR/Ly6 2.				C-terminal protein lipidation|attachment of GPI anchor to protein|blood coagulation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	U-plasminogen activator receptor activity|enzyme binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGGTGCCGGCCCCTCTCACAGC	0.604000														34			19		0	0	6.4e-05	0	0
SLC6A13	6540	broad.mit.edu	37	12	335680	335680	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:335680C>T	uc001qic.2	-	9	1026	c.936_splice	c.e9-1	p.R312_splice	SLC6A13_uc009zdj.2_Intron|SLC6A13_uc010sdl.2_Splice_Site_p.R220_splice	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	312				Missing (in Ref. 1; AAF64247).	neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGATGCAGTCCCTGTGGGGCA	0.637000														10			16		0	0	0.00121646	0	0
CD163	9332	broad.mit.edu	37	12	7639971	7639971	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7639971G>A	uc001qsz.3	-	7	2162	c.2034C>T	c.(2032-2034)gcC>gcT	p.A678A	CD163_uc001qta.3_Silent_p.A678A|CD163_uc009zfw.2_Silent_p.A711A	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	678	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGATTACAGAGGCCACTTGCT	0.483000														16			12		0	0	0.00136819	0	0
KRT4	3851	broad.mit.edu	37	12	53203182	53203182	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:53203182C>T	uc001saz.3	-	3	1041	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	273						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CATAGAGGACCTTCAGGAAGT	0.532000														66			24		0	0	0.00127121	0	0
SLC6A12	6539	broad.mit.edu	37	12	308072	308072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:308072G>A	uc001qhz.3	-	8	1401	c.737C>T	c.(736-738)cCg>cTg	p.P246L	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.P246L|SLC6A12_uc001qib.3_Missense_Mutation_p.P246L|SLC6A12_uc009zdh.2_Missense_Mutation_p.P246L	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	246					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CATCAGGTACGGAAACGTGGC	0.582000														31			23		0	0	0.000878237	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011427	160011427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:160011427G>A	uc001fuw.2	-	1	1136	c.896C>T	c.(895-897)tCc>tTc	p.S299F		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	299						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCAGGTAGGAAGTGCGCAC	0.527000														28			14		0	0	0.00185496	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060803	58060803	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:58060803G>T	uc021rtp.1	-	1	192	c.143C>A	c.(142-144)gCc>gAc	p.A48D	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGCAGTTGGCTCCTGGTTT	0.463000														10			13		7.03913e-09	2.04527e-08	0.00136819	1	0
SALL3	27164	broad.mit.edu	37	18	76753212	76753212	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:76753212C>T	uc002lmt.3	+	1	1221	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	SALL3_uc010dra.3_Silent_p.F14F	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGTCGGTGTTCGAGCCCAAAG	0.657000														18			11		0	0	0.000673444	0	0
PRSS1	5644	broad.mit.edu	37	7	142457320	142457320	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142457320G>A	uc003wak.2	+	1	1	c.-16_splice	c.e1-1		TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Splice_Site|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.						digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCACCAGTCAGGCACACTCTA	0.577000														100			14		0	0	0.00185496	0	0
FBLN7	129804	broad.mit.edu	37	2	112922660	112922660	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:112922660C>T	uc002tho.1	+	2	589	c.318C>T	c.(316-318)acC>acT	p.T106T	FBLN7_uc010fki.1_Silent_p.T106T|FBLN7_uc010fkj.1_Silent_p.T106T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	106	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCATTTTACCTGCAACCCTG	0.572000														49			35		0	0	0.00327116	0	0
ITPR1	3708	broad.mit.edu	37	3	4744524	4744524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:4744524C>T	uc003bqc.3	+	34	4852	c.4502C>T	c.(4501-4503)cCt>cTt	p.P1501L	ITPR1_uc021wsi.1_Missense_Mutation_p.P1507L|ITPR1_uc021wsj.1_Missense_Mutation_p.P1492L|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1516					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACTCGCCAGCCTGTCTTTGTG	0.473000														19			8		0	0	0.00307968	0	0
ZNF525	170958	broad.mit.edu	37	19	53884139	53884139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53884139G>A	uc010eqn.3	+	3	392	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						TCAGTGGCAAGAAGATGAAAG	0.393000														89			77		0	0	0.00361006	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350625	135350625	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:135350625G>A	uc001lnj.1	+	6	1059	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	CYP2E1_uc001lnk.1_Silent_p.K205K|CYP2E1_uc009ybl.1_Silent_p.K143K|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Silent_p.K143K	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	342					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CTGCCATCAAGGATAGGCAAG	0.517000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					47			35		0	0	0.000953801	0	0
SLC22A15	55356	broad.mit.edu	37	1	116609274	116609274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:116609274C>T	uc001egb.4	+	10	1629	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	500					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAGGTGTATTCGTATCGCAGG	0.488000														12			21		0	0	0.00395357	0	0
CPNE6	9362	broad.mit.edu	37	14	24545039	24545039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:24545039G>A	uc010tnv.2	+	10	1179	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CPNE6_uc001wlm.3_Missense_Mutation_p.E115K|CPNE6_uc001wll.3_Missense_Mutation_p.E290K|CPNE6_uc001wln.3_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	290	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCCAGGTGGAGAAGGTGCA	0.602000														33			14		0	0	0.000566183	0	0
GPR174	84636	broad.mit.edu	37	X	78426883	78426883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:78426883C>T	uc004edg.1	+	0	415	c.379C>T	c.(379-381)Cat>Tat	p.H127Y		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	127						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTTTCGCTTCCATGACTGCAA	0.458000										HNSCC(63;0.18)				16			70		0	0	0.00361006	0	0
SPACA7	122258	broad.mit.edu	37	13	113030790	113030790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:113030790C>T	uc001vsd.2	+	0	140	c.91C>T	c.(91-93)Cca>Tca	p.P31S		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	31						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AACCGTGATTCCAGGTAGGGC	0.587000														8			8		0	0	0.000274275	0	0
LHX2	9355	broad.mit.edu	37	9	126777382	126777382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:126777382C>T	uc010mwi.1	+	2	1068	c.329C>T	c.(328-330)tCc>tTc	p.S110F	LHX2_uc004boe.1_Intron	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	107						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CACAGCCCCTCCCTCCATGGT	0.667000														6			28		0	0	0.00178596	0	0
SCN11A	11280	broad.mit.edu	37	3	38888308	38888308	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38888308C>T	uc021wvy.1	-	25	5452	c.5253G>A	c.(5251-5253)gtG>gtA	p.V1751V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1751					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	cacccttggtcaccttCATCA	0.468000														40			80		0	0	0.00361006	0	0
SNTG2	54221	broad.mit.edu	37	2	1168853	1168853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1168853G>A	uc002qwq.3	+	7	704	c.575G>A	c.(574-576)gGa>gAa	p.G192E	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	192					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.N191K(2)|p.G192R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CATCTGAACGGAAACTCCAGT	0.443000														99			48		0	0	0.00361006	0	0
PRSS36	146547	broad.mit.edu	37	16	31157262	31157262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31157262G>A	uc002ebd.3	-	5	627	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	PRSS36_uc010vff.2_5'UTR|PRSS36_uc010vfg.2_Missense_Mutation_p.P190S|PRSS36_uc010vfh.2_Missense_Mutation_p.P190S	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	190	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGCACCCAGGGGAGAGGCAGA	0.597000														8			14		0	0	0.000566183	0	0
FGD6	55785	broad.mit.edu	37	12	95604944	95604944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:95604944G>A	uc001tdp.4	-	1	340	c.116C>T	c.(115-117)tCt>tTt	p.S39F	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	39					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGGAACACTAGAAATCACAAT	0.483000														86			127		0	0	0.00361006	0	0
GK2	2712	broad.mit.edu	37	4	80328367	80328367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:80328367G>A	uc003hlu.3	-	0	1006	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	330					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGCCAACGAATAACAGCA	0.428000														33			29		0	0	0.0024448	0	0
SSX8	280659	broad.mit.edu	37	X	52655419	52655419	+	RNA	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:52655419C>T	uc011moa.1	+	3		c.546C>T			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TGATAATGACCGTAACCGCAG	0.453000														5			46		0	0	0.00361006	0	0
OR13C5	138799	broad.mit.edu	37	9	107361416	107361417	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:107361416_107361417GG>AA	uc011lvp.2	-	0	278_279	c.278_279CC>TT	c.(277-279)tcc>tTT	p.S93F		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGCCAGAAAGGGAAATGGTCTT	0.515000														2			14		0	0	6.4e-05	0	0
SLC35F2	54733	broad.mit.edu	37	11	107677459	107677459	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:107677459C>T	uc001pjq.3	-	3	979	c.558G>A	c.(556-558)ggG>ggA	p.G186G	SLC35F2_uc010rvu.2_Silent_p.G38G|SLC35F2_uc001pjs.3_Silent_p.G186G	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	186					transport	integral to membrane		p.A185V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TGTCTTCCCTCCCTGCTAGTA	0.418000														9			34		0	0	0.00170553	0	0
TLR4	7099	broad.mit.edu	37	9	120475851	120475851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:120475851C>T	uc004bjz.3	+	2	1736	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	TLR4_uc004bkb.3_Missense_Mutation_p.S282F|TLR4_uc004bka.3_Missense_Mutation_p.S442F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	482					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCTGGCAATTCTTTCCAGGAA	0.448000														6			49		0	0	0.00361006	0	0
HOXB8	3218	broad.mit.edu	37	17	46691711	46691711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:46691711C>T	uc002inw.3	-	0	591	c.356G>A	c.(355-357)gGc>gAc	p.G119D		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GGCCTCCTCGCCCAGGCCGCT	0.692000														11			4		0	0	0.00024832	0	0
TECTA	7007	broad.mit.edu	37	11	121039497	121039497	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:121039497G>A	uc010rzo.2	+	18	5862	c.5862G>A	c.(5860-5862)acG>acA	p.T1954T		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1954	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.T1954T(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGTGTTGACGACTCGAGATG	0.483000														14			66		0	0	0.00361006	0	0
CXorf22	170063	broad.mit.edu	37	X	35985752	35985752	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:35985752C>T	uc004ddj.3	+	9	1683	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	539										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGCCTTCGATCCGTAATCCCA	0.338000														2			11		0	0	0.000978159	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184532	72184532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72184532C>T	uc002fcc.4	-	4	783	c.611G>A	c.(610-612)gGg>gAg	p.G204E	PMFBP1_uc002fcd.3_Missense_Mutation_p.G204E|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.G59E	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	204										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCCGAGTTCCCCCTGCAACAT	0.527000														106			47		0	0	0.00361006	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229846	154229846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:154229846C>T	uc001fep.4	+	19	2545	c.2378C>T	c.(2377-2379)cCt>cTt	p.P793L	UBAP2L_uc009wot.3_Missense_Mutation_p.P793L|UBAP2L_uc010pek.2_Missense_Mutation_p.P785L|UBAP2L_uc010pel.2_Missense_Mutation_p.P803L|UBAP2L_uc010pen.2_Missense_Mutation_p.P707L|UBAP2L_uc001feq.3_5'UTR|UBAP2L_uc001fer.3_5'UTR|SNORA58_uc021pae.1_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	793					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACCTCCCTCCTGGGGTCCCG	0.473000														30			39		0	0	0.0025221	0	0
IPO5	3843	broad.mit.edu	37	13	98658486	98658486	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:98658486T>A	uc001vne.3	+	16	1834	c.1654T>A	c.(1654-1656)Ttt>Att	p.F552I	IPO5_uc001vnf.1_Missense_Mutation_p.F534I|IPO5_uc010tik.1_Missense_Mutation_p.F409I|IPO5_uc010til.1_Missense_Mutation_p.F474I|IPO5_uc001vng.1_Missense_Mutation_p.F155I	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	534					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CTATGATTTATTTATGCCATC	0.403000														64			59		0	0	0.00361006	0	0
NLRP8	126205	broad.mit.edu	37	19	56466362	56466362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56466362C>T	uc002qmh.3	+	2	1009	c.938C>T	c.(937-939)tCt>tTt	p.S313F	NLRP8_uc010etg.3_Missense_Mutation_p.S313F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	313	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCCTGGGTCTGTCCTACTG	0.507000														47			94		0	0	0.00361006	0	0
FAM129A	116496	broad.mit.edu	37	1	184792358	184792358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:184792358G>A	uc001gra.3	-	7	1122	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	FAM129A_uc001grb.1_Missense_Mutation_p.R73C|FAM129A_uc009wyh.1_Missense_Mutation_p.R138C|FAM129A_uc009wyi.1_Missense_Mutation_p.R108C	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	310					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGTCAGAACGGATCGTTCCT	0.428000														46			23		0	0	0.00332997	0	0
CCT7	10574	broad.mit.edu	37	2	73474974	73474974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:73474974C>T	uc002siz.3	+	6	846	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	CCT7_uc010yrf.2_Missense_Mutation_p.P191S|CCT7_uc010yrh.2_Missense_Mutation_p.P107S|CCT7_uc010yrg.2_Missense_Mutation_p.P135S|CCT7_uc010yri.2_Missense_Mutation_p.P148S|CCT7_uc002sja.3_Missense_Mutation_p.P31S	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	235					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GTACCACAATCCCAAGATTGC	0.433000														28			27		0	0	0.000878237	0	0
LPAR4	2846	broad.mit.edu	37	X	78011239	78011239	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:78011239C>T	uc022bzj.1	+	0	873	c.873C>T	c.(871-873)atC>atT	p.I291I	LPAR4_uc010nme.3_Silent_p.I291I	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	291						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGCAAAGATCATGTACCCAA	0.418000														1			18		0	0	0.000958276	0	0
CARD9	64170	broad.mit.edu	37	9	139262131	139262131	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:139262131C>T	uc022bpp.1	-	7	1393	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V	CARD9_uc004chg.3_Silent_p.V409V|CARD9_uc022bpo.1_Silent_p.V409V|CARD9_uc011mdx.1_Silent_p.V305V	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	409					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	p.A408T(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCCTGCCCTCCACGGCCAGTA	0.716000														1			12		0	0	0.00136819	0	0
TRIM11	81559	broad.mit.edu	37	1	228582770	228582770	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228582770A>G	uc001hss.3	-	5	1298	c.1043T>C	c.(1042-1044)gTt>gCt	p.V348A	TRIM11_uc010pvx.2_Missense_Mutation_p.V347A	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	348	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCGGTCCCCAACCTCCACCTC	0.697000														17			15		0	0	0.00316338	0	0
AP3M2	10947	broad.mit.edu	37	8	42024823	42024823	+	Silent	SNP	C	T	T	rs146759837		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:42024823C>T	uc003xop.3	+	7	1236	c.945C>T	c.(943-945)ccC>ccT	p.P315P	AP3M2_uc003xoo.3_Silent_p.P315P|AP3M2_uc010lxe.3_Intron	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	315	MHD.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GCCAGATGCCCAAGGGGGTCC	0.537000														41			18		0	0	0.00074312	0	0
ATP2A3	489	broad.mit.edu	37	17	3853997	3853997	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:3853997G>A	uc002fwy.2	-	5	707	c.534C>T	c.(532-534)tcC>tcT	p.S178S	ATP2A3_uc002fwz.2_Silent_p.S178S|ATP2A3_uc002fxa.2_Silent_p.S178S|ATP2A3_uc002fxb.2_Silent_p.S178S|ATP2A3_uc002fxc.2_Silent_p.S178S|ATP2A3_uc002fxd.2_Silent_p.S178S|ATP2A3_uc002fwx.2_Silent_p.S178S	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	178					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCGTCAGGATGGACTGGTCCA	0.627000														96			17		0	0	0.00188189	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628498	51628498	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51628498C>T	uc010yct.2	+	0	362	c.267C>T	c.(265-267)gaC>gaT	p.D89D	SIGLEC9_uc002pvu.3_Silent_p.D89D	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	89	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGACTCGGGACCGATTCCACC	0.552000														99			21		0	0	0.00229938	0	0
TMEM230	29058	broad.mit.edu	37	20	5081503	5081503	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:5081503G>A	uc002wlk.3	-	4	545	c.486C>T	c.(484-486)atC>atT	p.I162I	TMEM230_uc010gbi.3_Intron|5S_rRNA_uc021wah.1_5'Flank|TMEM230_uc002wll.3_Silent_p.I99I|TMEM230_uc002wlm.3_Silent_p.I99I|TMEM230_uc002wln.3_Silent_p.I99I	NM_001009923	NP_054864	Q96A57	CT030_HUMAN	Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA.	99						integral to membrane											CATAGTAAGCGATGCGCAGGT	0.537000											OREG0025754	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		88			7		0	0	0.00198382	0	0
HLA-G	3135	broad.mit.edu	37	6	29797603	29797603	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29797603C>T	uc003nnw.2	+	5	1084	c.906C>T	c.(904-906)tcC>tcT	p.S302S	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.S274S|HLA-G_uc003raj.3_Silent_p.S307S|HLA-G_uc003nnz.3_Silent_p.S210S|HLA-G_uc010jrn.2_Silent_p.S118S|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_Non-coding_Transcript	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	302	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity	p.S301Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						AGCAGTCTTCCCTGCCCACCA	0.582000														38			35		0	0	0.000953801	0	0
PKNOX2	63876	broad.mit.edu	37	11	125221269	125221269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:125221269C>T	uc001qbu.3	+	3	382	c.68C>T	c.(67-69)cCc>cTc	p.P23L	PKNOX2_uc010saz.2_Intron|PKNOX2_uc010sba.2_Intron|PKNOX2_uc010sbb.2_Missense_Mutation_p.P6S	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	23	Poly-Pro.					nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCGCCCCCACCCTACCAGGAC	0.657000														0			8		0	0	0.000442599	0	0
ADARB2	105	broad.mit.edu	37	10	1406045	1406045	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:1406045G>A	uc009xhq.3	-	2	581	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	85					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		cccggtccccggagggcggtg	0.711000														8			5		0	0	0.000602214	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353485	37353485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:37353485G>A	uc002xjc.3	+	0	381	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	40					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CACGGATGAGGAGGCGGTGGG	0.637000														38			12		0	0	0.00136819	0	0
POTEE	445582	broad.mit.edu	37	2	131976308	131976308	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:131976308G>A	uc002tsn.2	+	0	385	c.333G>A	c.(331-333)ggG>ggA	p.G111G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	111							ATP binding										GCTGCAGGGGGAGCGGCAAGA	0.602000														56			46		0	0	0.00361006	0	0
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:147380211C>T	uc021ovm.1	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_uc001epu.2_Silent_p.F43F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	43					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592000														38			15		0	0	0.000566183	0	0
XKR3	150165	broad.mit.edu	37	22	17288923	17288923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:17288923C>T	uc002zlv.3	-	1	139	c.41G>A	c.(40-42)gGa>gAa	p.G14E	XKR3_uc011agf.2_Missense_Mutation_p.G14E	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	14						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAAACTCCTCCTGTGCTTTC	0.418000														80			28		0	0	0.0024448	0	0
CASC5	57082	broad.mit.edu	37	15	40902456	40902456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:40902456G>A	uc010bbs.1	+	5	372	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.3_Missense_Mutation_p.E71K|CASC5_uc010bbt.1_Missense_Mutation_p.E71K	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	71	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATTCCAGACGGAGTCTCATAT	0.308000														57			45		0	0	0.00361006	0	0
TP53BP2	7159	broad.mit.edu	37	1	223991885	223991885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:223991885C>T	uc001hod.3	-	6	1064	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	TP53BP2_uc010pvb.2_Missense_Mutation_p.G214R|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	208					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CCAAGTTTCCCATTGCTTAGT	0.383000														189			61		0	0	0.00361006	0	0
ADORA3	140	broad.mit.edu	37	1	112031393	112031393	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:112031393G>A	uc001ebf.3	-	2	1478	c.711C>T	c.(709-711)atC>atT	p.I237I	ADORA3_uc001ebg.4_Silent_p.I156I	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGTCCCGCTGGATGCCACACC	0.527000														30			7		0	0	0.000274275	0	0
PDZK1	5174	broad.mit.edu	37	1	145761400	145761400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:145761400G>A	uc001eon.2	+	7	1370	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	PDZK1_uc001eoo.2_Missense_Mutation_p.E405K|PDZK1_uc010oza.2_Missense_Mutation_p.E294K	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA.	405	PDZ 4.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATTCATCAAAGAGGTATGGTA	0.458000														19			6		0	0	0.000442599	0	0
SCN10A	6336	broad.mit.edu	37	3	38798333	38798333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38798333C>T	uc003ciq.3	-	8	1122	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	374					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)	CAAAAAAGATCATATAGATTT	0.473000														33			47		0	0	0.00361006	0	0
REG1A	5967	broad.mit.edu	37	2	79349251	79349251	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:79349251G>T	uc010ysd.2	+	3	388	c.321_splice	c.e3+1	p.K107_splice	REG1A_uc010ffx.1_3'UTR|REG1A_uc002snz.3_Splice_Site_p.K107_splice	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	107	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCCCAAAAAGGTAGGCTGCA	0.488000														45			34		4.62619e-21	1.35523e-20	0.000814825	1	0
CYP4B1	1580	broad.mit.edu	37	1	47280910	47280910	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:47280910C>T	uc001cqn.4	+	7	1131	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	CYP4B1_uc009vyl.1_Silent_p.I185I|CYP4B1_uc001cqm.4_Silent_p.I348I|CYP4B1_uc009vym.3_Silent_p.I334I|CYP4B1_uc010omk.2_Silent_p.I185I	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	348					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCCGCGAGATCCTAGGGGACC	0.582000														19			27		0	0	0.00178596	0	0
MLL2	8085	broad.mit.edu	37	12	49440416	49440416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:49440416G>A	uc001rta.4	-	14	4394	c.4394C>T	c.(4393-4395)cCc>cTc	p.P1465L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1465	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCGCCCTTGGGGACGGTGAG	0.562000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				101			96		0	0	0.00361006	0	0
ZNF670	93474	broad.mit.edu	37	1	247201468	247201468	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247201468G>C	uc001icd.2	-	3	670	c.453C>G	c.(451-453)atC>atG	p.I151M	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Missense_Mutation_p.I150M	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TGGTGAGAGAGATAAAGGCTT	0.403000														47			86		0	0	0.00361006	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731876	96731876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:96731876C>T	uc001kka.4	+	5	860	c.835C>T	c.(835-837)Cca>Tca	p.P279S	CYP2C9_uc009xut.3_Missense_Mutation_p.P277S	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	279					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCACAACCAACCATCTGAATT	0.363000														12			47		0	0	0.00361006	0	0
MTF1	4520	broad.mit.edu	37	1	38323218	38323218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:38323218G>A	uc001cce.1	-	1	254	c.113C>T	c.(112-114)tCc>tTc	p.S38F	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	38						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAGATGAGGAAGGCACCAG	0.478000														72			26		0	0	0.00127121	0	0
C20orf194	25943	broad.mit.edu	37	20	3297413	3297413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3297413G>A	uc002wii.2	-	17	1547	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	C20orf194_uc002wij.3_Missense_Mutation_p.S238F|C20orf194_uc002wik.2_Missense_Mutation_p.S173F	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	499										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CAGGACTACGGAGCTGGTTTC	0.532000														35			13		0	0	0.000566183	0	0
CNGA4	1262	broad.mit.edu	37	11	6261637	6261637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:6261637G>A	uc001mco.3	+	3	728	c.613G>A	c.(613-615)Gac>Aac	p.D205N	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.D165N	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	205					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGTACCCGGACCCCGCGCA	0.577000														46			36		0	0	0.000953801	0	0
ACSM5	54988	broad.mit.edu	37	16	20439149	20439149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20439149C>T	uc002dhe.3	+	6	1108	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	321					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGCTGTGTCCCAACCATCTT	0.468000														65			90		0	0	0.00361006	0	0
MMP26	56547	broad.mit.edu	37	11	5012667	5012667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:5012667C>T	uc001lzv.3	+	3	554	c.536C>T	c.(535-537)tCt>tTt	p.S179F		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	179					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTACCAAATTCTGGAAATCCT	0.478000														56			34		0	0	0.00209593	0	0
PRX	57716	broad.mit.edu	37	19	40901361	40901361	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:40901361G>A	uc002onr.3	-	6	3167	c.2898C>T	c.(2896-2898)ctC>ctT	p.L966L	PRX_uc002onq.3_Silent_p.L827L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	966					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)			GAGCCTTGGGGAGTGAGATGG	0.622000														43			25		0	0	0.00395357	0	0
ZNF233	353355	broad.mit.edu	37	19	44778806	44778806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44778806G>A	uc021uvi.1	+	4	2099	c.1993G>A	c.(1993-1995)Gat>Aat	p.D665N	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.D480N|ZNF233_uc002oyz.2_Missense_Mutation_p.D665N	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTTGTCTTCAGATTCATCAGA	0.408000														12			16		0	0	0.000422831	0	0
KIAA1033	23325	broad.mit.edu	37	12	105514922	105514922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:105514922C>T	uc010swr.2	+	8	692	c.605C>T	c.(604-606)aCc>aTc	p.T202I	KIAA1033_uc001tld.3_Missense_Mutation_p.T202I|KIAA1033_uc010sws.2_Missense_Mutation_p.T14I	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	202					endosome transport	WASH complex		p.L201L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTTTTGCTCACCCTGGATGAA	0.328000														41			7		0	0	0.000442599	0	0
CNTN6	27255	broad.mit.edu	37	3	1414033	1414033	+	Missense_Mutation	SNP	G	A	A	rs138019615	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:1414033G>A	uc003boz.3	+	12	1810	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	CNTN6_uc011asj.2_Missense_Mutation_p.E443K|CNTN6_uc003bpa.3_Missense_Mutation_p.E515K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	515	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TACAGTTGGCGAGAGTATAGT	0.388000														31			34		0	0	0.00148497	0	0
AJUBA	84962	broad.mit.edu	37	14	23451387	23451387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:23451387G>A	uc001whz.3	-	0	462	c.89C>T	c.(88-90)aCc>aTc	p.T30I		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	30	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CGGCCCGGGGGTCCCGTCAGA	0.672000														20			39		0	0	0.000953801	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133954054	133954054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:133954054C>T	uc001lkx.4	+	8	1444	c.1444C>T	c.(1444-1446)Ccg>Tcg	p.P482S		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGACCAGACCCCGTGCACCCC	0.622000														1			11		0	0	0.000978159	0	0
NLRP3	114548	broad.mit.edu	37	1	247597405	247597405	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247597405G>A	uc001icr.3	+	7	2466	c.2328_splice	c.e7-1	p.W776_splice	NLRP3_uc001ics.3_Splice_Site_p.W776_splice|NLRP3_uc001icu.3_Splice_Site_p.W776_splice|NLRP3_uc001icw.3_Splice_Site_p.G719_splice|NLRP3_uc001icv.3_Splice_Site_p.G719_splice|NLRP3_uc010pyw.2_Intron	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	776					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCATGAAGGTTGGGGCGCT	0.572000														55			113		0	0	0.00361006	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18633904	18633904	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18633904T>G	uc001moy.3	-	3	2059	c.1843A>C	c.(1843-1845)Ata>Cta	p.I615L	SPTY2D1_uc010rdi.1_Missense_Mutation_p.I615L	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	615										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGCTTGGATATTTCTTCCTGA	0.338000														34			51		0	0	0.00361006	0	0
PLD2	5338	broad.mit.edu	37	17	4711584	4711584	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:4711584C>T	uc002fzc.3	+	3	382	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	PLD2_uc010vsj.2_5'UTR|PLD2_uc002fzd.3_Silent_p.L86L	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	86	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AACCTGCACTCTGTATTCTGT	0.562000														382			44		0	0	0.00361006	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482426	140482426	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140482426C>T	uc003lio.3	+	0	2193	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGGGCCCCTTTCCAGGGC	0.652000														32			53		0	0	0.00361006	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:74905279G>A	uc001dge.2	+	21	2354	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E763K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E662K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	662						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTCACTGGCGAAATTCCATT	0.438000														80			23		0	0	0.000878237	0	0
ZNF74	7625	broad.mit.edu	37	22	20760622	20760622	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:20760622C>T	uc010gsm.3	+	5	1511	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	ZNF74_uc002zsg.3_Silent_p.L362L|ZNF74_uc002zsh.3_Silent_p.L433L|ZNF74_uc002zsi.3_Silent_p.L362L|ZNF74_uc010gsn.3_Silent_p.L362L	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	433					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCTCACCCTCCACCAGAGGA	0.642000														39			22		0	0	0.00152264	0	0
ITGAX	3687	broad.mit.edu	37	16	31392265	31392265	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31392265C>T	uc002ebt.3	+	28	3391	c.3324C>T	c.(3322-3324)ctC>ctT	p.L1108L	ITGAX_uc002ebu.1_Silent_p.L1108L	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1108					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCACCCCCCTCATCGTAGGCA	0.547000														35			35		0	0	0.00148497	0	0
GNB1L	54584	broad.mit.edu	37	22	19789715	19789715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:19789715G>A	uc002zqf.1	-	6	778	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	181					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CCGGCCAGAAGGAGTGGGCGG	0.642000														37			17		0	0	0.000958276	0	0
OR1C1	26188	broad.mit.edu	37	1	247921190	247921190	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247921190G>A	uc010pza.2	-	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AATGATGGATGATATTGGAGG	0.473000														14			27		0	0	0.000720815	0	0
DDX42	11325	broad.mit.edu	37	17	61886219	61886219	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:61886219C>G	uc002jbu.3	+	10	1320	c.1063C>G	c.(1063-1065)Ctt>Gtt	p.L355V	DDX42_uc002jbv.3_Missense_Mutation_p.L355V|DDX42_uc002jbw.1_Missense_Mutation_p.L91V|DDX42_uc002jbx.3_Missense_Mutation_p.L91V|DDX42_uc002jby.3_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	355	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGCATATAATCTTCGATCAGT	0.453000														58			40		0	0	0.00195071	0	0
JAG2	3714	broad.mit.edu	37	14	105615329	105615329	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:105615329C>T	uc001yqg.3	-	13	2255	c.1851G>A	c.(1849-1851)ggG>ggA	p.G617G	JAG2_uc001yqf.3_Silent_p.G21G|JAG2_uc001yqh.3_Silent_p.G579G	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	617	EGF-like 10; atypical.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AAAAGTTGCCCCCTGGCTGGC	0.662000														17			5		0	0	0.00116845	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754840	140754840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140754840C>T	uc003ljy.2	+	0	1190	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.S397L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	400	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGAAAAATCAGTTGGCAAT	0.453000														56			34		0	0	0.00327116	0	0
APOD	347	broad.mit.edu	37	3	195295875	195295875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:195295875G>A	uc003fur.2	-	4	828	c.466C>T	c.(466-468)Cct>Tct	p.P156S		NM_001647	NP_001638	P05090	APOD_HUMAN	Homo sapiens apolipoprotein D (APOD), mRNA.	156					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GTTTCTGGAGGGAGATTAGGG	0.443000														65			61		0	0	0.00361006	0	0
MIB2	142678	broad.mit.edu	37	1	1563922	1563922	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:1563922C>T	uc001agg.3	+	15	2412	c.2367C>T	c.(2365-2367)ctC>ctT	p.L789L	MIB2_uc001agh.3_Silent_p.L775L|MIB2_uc001agi.3_Silent_p.L785L|MIB2_uc001agj.3_Silent_p.L573L|MIB2_uc001agk.3_Silent_p.L724L|MIB2_uc001agl.2_Silent_p.L688L|MIB2_uc001agm.3_Silent_p.L609L|MIB2_uc010nyq.2_Silent_p.L688L|MIB2_uc009vkh.3_Silent_p.L538L|MIB2_uc001agn.3_Silent_p.L364L|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	732					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCTGCATCTCGCCGTGCAAC	0.706000														5			15		0	0	0.00074312	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502793	140502793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140502793G>A	uc003lip.1	+	0	1213	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	405	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTAACAGAGAGACCACT	0.453000														33			7		0	0	0.00198382	0	0
FBXO18	84893	broad.mit.edu	37	10	5979201	5979201	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:5979201C>T	uc001iit.3	+	21	3347	c.3243C>T	c.(3241-3243)atC>atT	p.I1081I	FBXO18_uc001iir.3_Silent_p.I973I|FBXO18_uc001iis.3_Silent_p.I1030I|FBXO18_uc009xig.3_Silent_p.I956I	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	1030					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGGAGAACATCGTACTGCCCC	0.662000														3			11		0	0	0.00136819	0	0
AGAP1	116987	broad.mit.edu	37	2	236708057	236708057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:236708057C>T	uc002vvs.3	+	7	1446	c.848C>T	c.(847-849)cCa>cTa	p.P283L	AGAP1_uc002vvt.3_Missense_Mutation_p.P283L|AGAP1_uc021vyp.1_Missense_Mutation_p.P283L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	283					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.P283S(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCTCCGTTCCATCGACTCCC	0.517000														25			33		0	0	0.000953801	0	0
TCRA	0	broad.mit.edu	37	14	22539378	22539378	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:22539378A>G	uc001wcy.3	+	1	285	c.274A>G	c.(274-276)Agc>Ggc	p.S92G	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		TGGAAGATTAAGCGCCACGAC	0.473000														20			38		0	0	0.00128727	0	0
ACTB	60	broad.mit.edu	37	7	5568857	5568857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:5568857C>T	uc003sot.4	-	2	382	c.298G>A	c.(298-300)Gag>Aag	p.E100K	ACTB_uc003sor.4_5'UTR|ACTB_uc003soq.4_5'UTR	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	100					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACGGGGTGCTCCTCGGGAGCC	0.627000														38			35		0	0	0.000814825	0	0
C14orf159	80017	broad.mit.edu	37	14	91647628	91647628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:91647628C>T	uc001xyw.2	+	7	1181	c.829C>T	c.(829-831)Cca>Tca	p.P277S	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.P277S|C14orf159_uc001xyz.2_Missense_Mutation_p.P148S|C14orf159_uc001xzb.2_Missense_Mutation_p.P272S|C14orf159_uc001xyx.2_Missense_Mutation_p.P260S|C14orf159_uc001xzc.2_Missense_Mutation_p.P272S|C14orf159_uc001xza.2_Missense_Mutation_p.P277S|C14orf159_uc001xyv.2_Missense_Mutation_p.P277S|C14orf159_uc001xze.2_Missense_Mutation_p.P272S	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	272						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGAGAGAATTCCAGAGGTCCA	0.512000														44			18		0	0	0.00074312	0	0
OSBP2	23762	broad.mit.edu	37	22	31091279	31091280	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:31091279_31091280CC>TT	uc003aiy.1	+	0	487_488	c.383_384CC>TT	c.(382-384)tcc>tTT	p.S128F	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.S128F|OSBP2_uc011alb.1_Missense_Mutation_p.S128F|OSBP2_uc003aiz.1_Missense_Mutation_p.S128F	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	128					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GAGCCGCTCTCCCGGGCGGTGG	0.668000														42			38		0	0	6.4e-05	0	0
BMP1	649	broad.mit.edu	37	8	22033822	22033822	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:22033822C>T	uc003xbg.3	+	2	695	c.429C>T	c.(427-429)ttC>ttT	p.F143F	BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Silent_p.F143F|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	143	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGGGAAACTTCACTGGTGAGC	0.652000														33			12		0	0	0.00185496	0	0
DUSP26	78986	broad.mit.edu	37	8	33451117	33451117	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:33451117A>T	uc003xjp.3	-	2	703	c.370T>A	c.(370-372)Ttt>Att	p.F124I	DUSP26_uc003xjq.3_Missense_Mutation_p.F124I	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	124	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CTCATGTCAAAGGCTGGCGAG	0.642000														65			11		0	0	0.000673444	0	0
NNT	23530	broad.mit.edu	37	5	43659398	43659398	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:43659398C>T	uc003joe.3	+	16	2835	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	NNT_uc003jof.3_Silent_p.I860I	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	860					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGCTGACCATCGTGGGTGCAC	0.507000														9			54		0	0	0.00361006	0	0
OSBPL2	9885	broad.mit.edu	37	20	60838688	60838688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:60838688C>T	uc002yck.1	+	3	401	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	OSBPL2_uc002ycl.1_Missense_Mutation_p.P55S|OSBPL2_uc011aah.1_5'UTR	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	67					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GCTGCCGGCTCCCATGTTCAG	0.577000														83			34		0	0	0.000953801	0	0
FGFR4	2264	broad.mit.edu	37	5	176524556	176524556	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176524556C>G	uc003mfl.3	+	17	2455	c.2288C>G	c.(2287-2289)cCc>cGc	p.P763R	FGFR4_uc003mfm.3_Missense_Mutation_p.P763R|FGFR4_uc011dfu.2_Missense_Mutation_p.P695R|FGFR4_uc003mfo.3_Missense_Mutation_p.P723R	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	763					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	ACCTTCGGACCCTATTCCCCC	0.667000										TSP Lung(9;0.080)				32			14		0	0	0.00244969	0	0
PHYH	5264	broad.mit.edu	37	10	13330474	13330474	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:13330474G>A	uc001imf.3	-	5	652	c.564C>T	c.(562-564)ctC>ctT	p.L188L	PHYH_uc001ime.3_Silent_p.L88L	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	188					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CGCAAACGATGAGATCGCTGG	0.577000														23			40		0	0	0.00361006	0	0
PPM1D	8493	broad.mit.edu	37	17	58678186	58678186	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:58678186G>A	uc002iyt.2	+	0	643	c.411G>A	c.(409-411)aaG>aaA	p.K137K	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	137	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGCCGGCTAAGGTTTGCGCTG	0.602000														36			57		0	0	0.00361006	0	0
OR2M4	26245	broad.mit.edu	37	1	248402323	248402323	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:248402323C>T	uc010pzh.2	+	0	93	c.93C>T	c.(91-93)gtC>gtT	p.V31V		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V31F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTCTCTGGTCCTGGGCATCT	0.478000														35			43		0	0	0.00285205	0	0
FAT4	79633	broad.mit.edu	37	4	126402778	126402778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:126402778G>A	uc003ifj.4	+	14	12701	c.12701G>A	c.(12700-12702)cGa>cAa	p.R4234Q	FAT4_uc011cgp.2_Missense_Mutation_p.R2475Q|FAT4_uc003ifi.1_Missense_Mutation_p.R1712Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4234	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAAGCTTACGAGGTGCCATG	0.443000														35			23		0	0	0.00278032	0	0
COL20A1	57642	broad.mit.edu	37	20	61939414	61939414	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:61939414C>T	uc011aau.2	+	6	847	c.747C>T	c.(745-747)ctC>ctT	p.L249L	COL20A1_uc011aav.2_Silent_p.L70L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	249	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCGCCGCCTCCGCTACAAGG	0.657000														69			23		0	0	0.00395357	0	0
MYH11	4629	broad.mit.edu	37	16	15815296	15815296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:15815296C>T	uc002ddx.3	-	32	4689	c.4582G>A	c.(4582-4584)Gat>Aat	p.D1528N	MYH11_uc002ddv.3_Missense_Mutation_p.D1528N|MYH11_uc002ddw.3_Missense_Mutation_p.D1521N|MYH11_uc002ddy.3_Missense_Mutation_p.D1521N|MYH11_uc010bvg.3_Missense_Mutation_p.D1353N|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.D227N|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1521					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCACGTCATCCTTGGAGCTG	0.557000			T	CBFB	AML									26			35		0	0	0.00111076	0	0
FBXO10	26267	broad.mit.edu	37	9	37521630	37521630	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:37521630G>C	uc004aac.3	-	7	2264	c.2184C>G	c.(2182-2184)gaC>gaG	p.D728E	FBXO10_uc004aab.3_Missense_Mutation_p.D712E|FBXO10_uc004aad.3_Missense_Mutation_p.D262E	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	712						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.D712D(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCAGTGGGTCGTCCTCCTTCT	0.562000														3			13		0	0	0.00185496	0	0
OR4D2	124538	broad.mit.edu	37	17	56247838	56247838	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56247838C>T	uc010wnp.2	+	0	822	c.822C>T	c.(820-822)ggC>ggT	p.G274G		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGTCCATCGGCCACACAGTCA	0.532000														50			73		0	0	0.00361006	0	0
ACAP1	9744	broad.mit.edu	37	17	7250233	7250233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7250233C>T	uc002ggd.2	+	12	1320	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	372	Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGATGACAGCCCCCGGGGTCC	0.637000														8			67		0	0	0.00361006	0	0
PCDH7	5099	broad.mit.edu	37	4	30732387	30732387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:30732387C>T	uc003gsk.1	+	1	4195	c.3187C>T	c.(3187-3189)Cca>Tca	p.P1063S	PCDH7_uc011bxx.2_Intron|PCDH7_uc021xnd.1_Intron	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	1063					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCGTCTACATCCATACATTAC	0.393000														44			17		0	0	0.00152264	0	0
ITFG3	83986	broad.mit.edu	37	16	304607	304607	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:304607C>T	uc002cgf.3	+	2	390	c.195C>T	c.(193-195)gtC>gtT	p.V65V	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Silent_p.V65V|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Silent_p.V65V	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	65						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGGTGTTCGTCGTCTCATTCG	0.597000														97			154		0	0	0.00361006	0	0
UMOD	7369	broad.mit.edu	37	16	20355393	20355394	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20355393_20355394GG>AA	uc002dhb.3	-	6	1511_1512	c.1382_1383CC>TT	c.(1381-1383)ccc>cTT	p.P461L	UMOD_uc002dgz.3_Missense_Mutation_p.P428L|UMOD_uc002dha.3_Missense_Mutation_p.P428L	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	428	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATGTCCAGGGGGTAGGAGCA	0.535000														34			19		0	0	6.4e-05	0	0
FAIM2	23017	broad.mit.edu	37	12	50295080	50295080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:50295080G>A	uc001rvj.2	-	1	229	c.44C>T	c.(43-45)aCc>aTc	p.T15I	FAIM2_uc001rvi.2_5'UTR	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	15					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CTGCCCCTCGGTCCCAGGGGC	0.607000														41			33		0	0	0.000814825	0	0
ZNF608	57507	broad.mit.edu	37	5	123977036	123977036	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:123977036G>A	uc003ktq.1	-	6	4542	c.4359C>T	c.(4357-4359)tcC>tcT	p.S1453S	ZNF608_uc003ktr.1_Intron|ZNF608_uc003ktp.1_Silent_p.S148S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1453						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGCCGAAGGGGGAGTGGCGAT	0.572000														42			13		0	0	0.00244969	0	0
NLRP1	22861	broad.mit.edu	37	17	5418189	5418189	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:5418189C>T	uc002gci.3	-	16	4862	c.4307G>A	c.(4306-4308)tGg>tAg	p.W1436*	NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Nonsense_Mutation_p.W1392*|NLRP1_uc002gck.3_Nonsense_Mutation_p.W1392*|NLRP1_uc002gcj.3_Nonsense_Mutation_p.W1406*|NLRP1_uc002gcl.3_Nonsense_Mutation_p.W1362*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1436	CARD.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTTCCGGTCCCAGGACTGGCT	0.577000														5			135		0	0	0.00361006	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673474	141673474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141673474G>A	uc003vwx.1	-	0	100	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	6					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTGCGGATGCGAGTTAGAGTC	0.448000														99			18		0	0	0.00074312	0	0
MYT1L	23040	broad.mit.edu	37	2	1906908	1906908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1906908C>T	uc002qxe.3	-	13	2803	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	MYT1L_uc002qxd.3_Missense_Mutation_p.R657Q|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	659					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCTATGGCTCGCTTGCCATA	0.488000														39			48		0	0	0.00361006	0	0
APOM	55937	broad.mit.edu	37	6	31625002	31625002	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31625002G>A	uc003nvl.3	+	3	343	c.270_splice	c.e3-1	p.M90_splice	APOM_uc003nvk.3_Splice_Site_p.M18_splice	NM_019101	NP_061974	O95445	APOM_HUMAN	Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA.	90					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						ACCTCTGCAGGAAAGATGGGC	0.507000														181			115		0	0	0.00361006	0	0
IGHE	3497	broad.mit.edu	37	14	106067917	106067917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106067917C>T	uc001yrw.1	-	1	203	c.191G>A	c.(190-192)gGg>gAg	p.G64E	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.G11E|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		CATAGTTGTCCCGTTGAGGGA	0.612000														57			17		0	0	0.000422831	0	0
ZNF324	25799	broad.mit.edu	37	19	58983383	58983383	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58983383C>T	uc002qsw.2	+	3	1669	c.1524C>T	c.(1522-1524)acC>acT	p.T508T		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCGAGAAGACCGTCCGGCGAT	0.677000														56			11		0	0	0.000978159	0	0
FAM46B	115572	broad.mit.edu	37	1	27339028	27339028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:27339028G>A	uc010ofj.2	-	0	306	c.134C>T	c.(133-135)cCc>cTc	p.P45L	BC016143_uc021ojq.1_Intron	NM_052943	NP_443175	Q96A09	FA46B_HUMAN	Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA.	45										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCCGTCCGGGGAAGGCCGA	0.731000														19			4		0	0	0.00024832	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655244	38655244	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38655244C>T	uc002ohk.3	+	14	4415	c.3906C>T	c.(3904-3906)tcC>tcT	p.S1302S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1302					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCCCCTCTCCAAGGGTGGCT	0.657000														17			8		0	0	0.00307968	0	0
TRPM4	54795	broad.mit.edu	37	19	49671183	49671183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49671183C>T	uc002pmw.3	+	3	385	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F	TRPM4_uc010emu.3_Missense_Mutation_p.L93F|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	93					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTTCCTCCGGCTCTCTGACCG	0.637000														76			83		0	0	0.00361006	0	0
ZNF263	10127	broad.mit.edu	37	16	3339984	3339984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3339984C>T	uc002cuq.3	+	5	1810	c.1478C>T	c.(1477-1479)cCt>cTt	p.P493L	ZNF263_uc010uww.2_Missense_Mutation_p.P141L|ZNF263_uc002cur.2_Missense_Mutation_p.P141L	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	493					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TACAAGTGCCCTGAGTGTGGG	0.522000														27			7		0	0	0.00307968	0	0
AKAP9	10142	broad.mit.edu	37	7	91714954	91714954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:91714954C>T	uc003ulg.3	+	35	9203	c.8978C>T	c.(8977-8979)tCt>tTt	p.S2993F	AKAP9_uc003ulf.3_Missense_Mutation_p.S2985F|AKAP9_uc003uli.3_Missense_Mutation_p.S2616F|AKAP9_uc003ulj.3_Missense_Mutation_p.S763F|AKAP9_uc003ulk.3_Missense_Mutation_p.S268F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2997					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAATCTCATCTCTAAAGGAT	0.353000			T	BRAF	papillary thyroid									41			23		0	0	0.00332997	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95735	95735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrGL000209.1:95735G>A	uc002quk.1	+	7	1176	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	374							receptor activity										CCAGCAGCTGGAATCTGAAGG	0.517000														31			19		0	0	0.00074312	0	0
IFIH1	64135	broad.mit.edu	37	2	163139026	163139026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:163139026G>A	uc002uce.3	-	5	1378	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	386	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCAATAACACGATACCATTTC	0.338000														25			20		0	0	0.00121646	0	0
IBA57	200205	broad.mit.edu	37	1	228362887	228362887	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228362887C>T	uc001hsl.4	+	2	833	c.744C>T	c.(742-744)gcC>gcT	p.A248A	IBA57_uc010pvw.2_Silent_p.A55A	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	248					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCAACCTGGCCTTCATGAACG	0.642000														78			24		0	0	0.000878237	0	0
RYR3	6263	broad.mit.edu	37	15	34130518	34130518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34130518G>A	uc001zhi.3	+	88	12407	c.12337G>A	c.(12337-12339)Gag>Aag	p.E4113K	RYR3_uc010bar.3_Missense_Mutation_p.E4108K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4113					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGGCCAGAAGAGGAGGAAGA	0.473000														83			92		0	0	0.00361006	0	0
PLD5	200150	broad.mit.edu	37	1	242271141	242271141	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:242271141C>T	uc001hzn.2	-	9	1298	c.1071_splice	c.e9-1	p.R357_splice	PLD5_uc021pll.1_Splice_Site_p.R265_splice|PLD5_uc001hzl.4_Splice_Site_p.R295_splice|PLD5_uc001hzm.4_Splice_Site_p.R149_splice|PLD5_uc001hzo.2_Splice_Site_p.R265_splice	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	357						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GCCAGTAAGTCCTGCAGAAAT	0.353000														43			63		0	0	0.00361006	0	0
LEPR	3953	broad.mit.edu	37	1	66036256	66036256	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:66036256C>T	uc001dci.3	+	3	530	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LEPR_uc001dcg.3_Silent_p.F47F|LEPR_uc001dch.3_Silent_p.F47F|LEPR_uc009waq.3_Silent_p.F47F|LEPR_uc021ool.1_Silent_p.F47F|LEPR_uc001dcj.3_Silent_p.F47F|LEPR_uc001dck.3_Silent_p.F47F	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	47					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGACTACTTCCTTTTGCCTG	0.353000														45			87		0	0	0.00361006	0	0
NOD2	64127	broad.mit.edu	37	16	50753891	50753891	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:50753891C>T	uc002egm.1	+	6	2791	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*	NOD2_uc010cbl.1_Nonsense_Mutation_p.R646*|NOD2_uc010cbm.1_Intron|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_Nonsense_Mutation_p.R34*|NOD2_uc010cbr.1_Non-coding_Transcript|NOD2_uc010vgq.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	896					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGAGGGGCTCCGAGGCAACAC	0.597000														41			70		0	0	0.00361006	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769639	112769639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:112769639G>A	uc003kqm.2	-	0	1090	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	300					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CCAGGTTCGGGGGTCCACAAG	0.622000														23			11		0	0	0.000673444	0	0
OR5D16	390144	broad.mit.edu	37	11	55606570	55606570	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:55606570A>T	uc010rio.2	+	0	343	c.343A>T	c.(343-345)Att>Ttt	p.I115F		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I115F(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GACTGAATTAATTCTATTTGC	0.438000														90			63		0	0	0.00361006	0	0
GLIS3	169792	broad.mit.edu	37	9	4286371	4286371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:4286371C>T	uc003zhx.1	-	1	768	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	GLIS3_uc003zic.1_Missense_Mutation_p.G19R|GLIS3_uc003zie.1_Missense_Mutation_p.G19R|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Missense_Mutation_p.G19R	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	0					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATCCTAGGCCCCTGTGGGGTT	0.562000														2			34		0	0	0.0024448	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62788625	62788625	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:62788625G>A	uc002jew.4	-	7	2015	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	PLEKHM1P_uc002jev.3_Non-coding_Transcript					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		GCTGGGCCCGGATCTGCGTCA	0.607000														37			47		0	0	0.00361006	0	0
GANC	2595	broad.mit.edu	37	15	42566701	42566701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:42566701G>A	uc001zpi.3	+	0	336	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	GANC_uc001zph.3_Missense_Mutation_p.E8K|TMEM87A_uc021sjr.1_5'Flank|TMEM87A_uc001zpf.4_5'Flank|TMEM87A_uc010bcu.1_5'Flank|TMEM87A_uc001zpg.2_5'Flank|GANC_uc010ude.1_Missense_Mutation_p.E8K	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	8					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AGTGAAAGAGGAAATAAGGTA	0.483000														13			15		0	0	0.000958276	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8645836	8645836	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:8645836G>A	uc002mkj.1	-	25	3527	c.3253C>T	c.(3253-3255)Cag>Tag	p.Q1085*	ADAMTS10_uc002mki.1_Nonsense_Mutation_p.Q572*	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	1085	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGCAGAACTGAAATTTGAGC	0.627000											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			5		0	0	0.000602214	0	0
KCNB2	9312	broad.mit.edu	37	8	73848625	73848625	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:73848625G>A	uc003xzb.3	+	2	1623	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	345					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGGCCATGGGGATAATGATAT	0.473000														71			39		0	0	0.00285205	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643366	3643366	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3643366G>A	uc002lyj.2	-	12	1613	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	PIP5K1C_uc010xhq.2_Silent_p.L508L|PIP5K1C_uc010xhr.2_Silent_p.L508L	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	508					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGCAGGGCAGGAGGTCGGGCC	0.637000														83			41		0	0	0.00285205	0	0
UBASH3A	53347	broad.mit.edu	37	21	43852251	43852252	+	Missense_Mutation	DNP	GG	AA	AA	rs151042130		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:43852251_43852252GG>AA	uc002zbe.3	+	8	1294_1295	c.1210_1211GG>AA	c.(1210-1212)ggg>AAg	p.G404K	UBASH3A_uc002zbf.3_Missense_Mutation_p.G366K|UBASH3A_uc010gpe.3_Missense_Mutation_p.G366K|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	404	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGTTCGCCACGGGGAGAGAGTG	0.569000														15			5		0	0	6.4e-05	0	0
EML5	161436	broad.mit.edu	37	14	89181355	89181355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:89181355C>T	uc021ryf.1	-	8	1621	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	EML5_uc021ryg.1_Missense_Mutation_p.D458N|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	458						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAAGACCAGTCCAGATGAGTG	0.373000														41			24		0	0	0.00395357	0	0
ABCA3	21	broad.mit.edu	37	16	2331154	2331154	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:2331154G>A	uc002cpy.1	-	27	4945	c.4233C>T	c.(4231-4233)tgC>tgT	p.C1411C	ABCA3_uc010bsk.1_Silent_p.C1353C	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1411	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCAGGCCGAAGCACTCCCCTT	0.627000														41			16		0	0	0.000422831	0	0
CHD6	84181	broad.mit.edu	37	20	40042110	40042110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:40042110G>A	uc002xka.1	-	34	7163	c.6985C>T	c.(6985-6987)Cct>Tct	p.P2329S	CHD6_uc002xjz.1_5'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2329					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCCCCTCAGGGTGTGTGGTG	0.547000														12			13		0	0	0.00185496	0	0
DBF4	10926	broad.mit.edu	37	7	87537294	87537295	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:87537294_87537295CG>AT	uc003ujf.1	+	11	2345_2346	c.1841_1842CG>AT	c.(1840-1842)ccg>cAT	p.P614H	DBF4_uc003ujh.1_Missense_Mutation_p.P354H|DBF4_uc003ujg.1_Missense_Mutation_p.P390H|DBF4_uc011khf.1_Missense_Mutation_p.P381H	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	614					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TGTAGTTCACCGGTACAGTCTT	0.322000														129			6		0	0	6.4e-05	0	0
PABPC1	26986	broad.mit.edu	37	8	101733795	101733795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:101733795G>A	uc003yjs.1	-	0	521	c.17C>T	c.(16-18)cCc>cTc	p.P6L	PABPC1_uc011lhc.1_Missense_Mutation_p.P6L|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Missense_Mutation_p.P6L|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	6					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GGGGTAGCTGGGGGCACTGGG	0.711000														11			19		0	0	0.00188189	0	0
TCHH	7062	broad.mit.edu	37	1	152080064	152080064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152080064C>T	uc009wne.1	-	2	5901	c.5629G>A	c.(5629-5631)Gaa>Aaa	p.E1877K	TCHH_uc001ezp.2_Missense_Mutation_p.E1877K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1877	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.R1876L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTTCCTTTCCCGTTCCTGG	0.567000														71			32		0	0	0.00375469	0	0
SGCA	6442	broad.mit.edu	37	17	48245361	48245361	+	Silent	SNP	G	A	A	rs147739328	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48245361G>A	uc002iqi.3	+	3	402	c.366G>A	c.(364-366)ctG>ctA	p.L122L	SGCA_uc010wmh.1_Silent_p.L20L|SGCA_uc002iqj.3_Silent_p.L122L|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	122					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GGCTGGTGCTGGAGATTGGGG	0.592000														29			46		0	0	0.00361006	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:138414689G>A	uc002tva.1	+	22	4244	c.4244G>A	c.(4243-4245)cGa>cAa	p.R1415Q	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAACGAACGAACTGTATGG	0.413000														33			29		0	0	0.001512	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:59010865G>A	uc002qtc.2	-	6	1771	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000														58			18		0	0	0.00121646	0	0
FAM83B	222584	broad.mit.edu	37	6	54805566	54805567	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:54805566_54805567CC>TT	uc003pck.3	+	4	1913_1914	c.1797_1798CC>TT	c.(1795-1800)atcccc>atTTcc	p.P600S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	600										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAGAATCAATCCCCAAGCTCCC	0.470000														30			29		0	0	6.4e-05	0	0
CA7	766	broad.mit.edu	37	16	66885423	66885423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:66885423G>A	uc002eqi.3	+	3	524	c.415G>A	c.(415-417)Gca>Aca	p.A139T	AF086125_uc002eqh.3_Intron|CA7_uc002eqj.3_Missense_Mutation_p.A83T	NM_005182	NP_001014435	P43166	CAH7_HUMAN	Homo sapiens carbonic anhydrase VII (CA7), transcript variant 1, mRNA.	139					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGCGGCCTCAGCACCTGATGG	0.587000														67			123		0	0	0.00361006	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034212	52034212	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52034212G>A	uc002pwy.3	-	3	636	c.428_splice	c.e3-1	p.A143_splice	SIGLEC6_uc002pwz.3_Splice_Site_p.A143_splice|SIGLEC6_uc010ydb.2_Splice_Site_p.A107_splice|SIGLEC6_uc010ydc.2_Splice_Site_p.A143_splice|SIGLEC6_uc002pxa.3_Splice_Site_p.A143_splice|SIGLEC6_uc010eoz.2_Intron|SIGLEC6_uc010epa.2_Splice_Site_p.A132_splice|SIGLEC6_uc010epb.2_Splice_Site_p.A96_splice	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	143					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGGGTCAGGGCTGGTGAGG	0.622000														49			49		0	0	0.00361006	0	0
STX1B	112755	broad.mit.edu	37	16	31004166	31004166	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31004166G>A	uc010cad.2	-	9	955	c.843C>T	c.(841-843)tcC>tcT	p.S281S		NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	281					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TCCCCCCAATGGATGACGCCA	0.577000														42			15		0	0	0.000958276	0	0
SBSN	374897	broad.mit.edu	37	19	36018747	36018747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36018747C>T	uc002oad.2	-	0	507	c.437G>A	c.(436-438)gGa>gAa	p.G146E	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	145	Ala/Gly/His-rich.					extracellular region		p.G145V(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCCTCACTTCCCGCCTGGTT	0.607000														30			29		0	0	0.00127121	0	0
ZC3H18	124245	broad.mit.edu	37	16	88688784	88688784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:88688784C>T	uc010voz.2	+	9	1927	c.1727C>T	c.(1726-1728)tCt>tTt	p.S576F	ZC3H18_uc002fky.3_Missense_Mutation_p.S552F|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	552	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCTCTGCCTCTAATTCCTCC	0.617000														10			8		0	0	0.00307968	0	0
ST18	9705	broad.mit.edu	37	8	53044633	53044633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:53044633G>A	uc003xqz.2	-	16	2707	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	ST18_uc011ldq.1_Missense_Mutation_p.P498S|ST18_uc011ldr.1_Missense_Mutation_p.P816S|ST18_uc011lds.1_Missense_Mutation_p.P756S|ST18_uc003xra.2_Missense_Mutation_p.P851S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	851						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCATTGAGAGGATTCTCCTTC	0.498000														38			25		0	0	0.000720815	0	0
MBNL1	4154	broad.mit.edu	37	3	152150596	152150596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:152150596C>T	uc003ezm.3	+	2	1225	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	MBNL1_uc003ezh.3_Missense_Mutation_p.P146S|MBNL1_uc003ezi.3_Missense_Mutation_p.P146S|MBNL1_uc003ezj.3_Missense_Mutation_p.P89S|MBNL1_uc003ezl.3_Missense_Mutation_p.P146S|MBNL1_uc003ezp.3_Missense_Mutation_p.P146S|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron|MBNL1_uc010hvp.3_Missense_Mutation_p.P54S	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	146					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAGCCTGGTCCCGGCAGAGAT	0.517000														132			111		0	0	0.00361006	0	0
FAAH	2166	broad.mit.edu	37	1	46876082	46876082	+	Silent	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:46876082C>T	uc001cpu.2	+	9	1270	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	396					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.F396F(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AAGGTGATTTCGTGGACCCCT	0.572000														260			67		0	0	0.00361006	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643784	37643785	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37643784_37643785GG>AA	uc002ofo.1	-	4	1247_1248	c.1016_1017CC>TT	c.(1015-1017)tcc>tTT	p.S339F	ZNF585A_uc002ofm.1_Missense_Mutation_p.S284F|ZNF585A_uc002ofn.1_Missense_Mutation_p.S284F	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACGAGGTTGGAATTATTGCT	0.401000														56			28		0	0	6.4e-05	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067573	116067573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:116067573C>T	uc001lbn.3	-	9	1364	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	AFAP1L2_uc001lbo.3_Missense_Mutation_p.E355K|AFAP1L2_uc010qse.2_Missense_Mutation_p.E408K|AFAP1L2_uc001lbp.3_Missense_Mutation_p.E383K|AFAP1L2_uc001lbr.1_Missense_Mutation_p.E355K|AFAP1L2_uc010qsd.2_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	355	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGGATGTCTCGAGGGACCTC	0.542000														8			28		0	0	0.0024448	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100000181	100000181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100000181G>A	uc003uut.3	-	15	1677	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	ZCWPW1_uc011kjq.2_Missense_Mutation_p.R357C|ZCWPW1_uc003uur.3_Intron|ZCWPW1_uc003uus.3_Missense_Mutation_p.R357C|ZCWPW1_uc011kjr.2_Intron|ZCWPW1_uc011kjp.2_Intron	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	477							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTCGCTTACGAATGGGCAAA	0.433000														430			96		0	0	0.00361006	0	0
FSTL1	11167	broad.mit.edu	37	3	120123744	120123744	+	Silent	SNP	G	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:120123744G>A	uc003eds.3	-	6	712	c.537C>T	c.(535-537)atC>atT	p.I179I	FSTL1_uc011bjh.2_Silent_p.I144I	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	179					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TTGTAATATTGATGGCAGTTT	0.443000														120			63		0	0	0.00361006	0	0
ESPN	83715	broad.mit.edu	37	1	6500831	6500831	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:6500831delC	uc001amy.3	+	3	989	c.821delC	c.(820-822)accfs	p.T274fs		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	274					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGCGGGACCCCGCTGCAC	0.751													---	4	---	---	2	---					
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:6727803_6727804delTC	uc001aof.2	-	3	449_450	c.343_344delGA	c.(343-345)gaafs	p.E115fs	DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	115					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													---	61	---	---	7	---					
BEST4	266675	broad.mit.edu	37	1	45249992	45249992	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:45249992delG	uc001cmm.3	-	8	1361	c.1312delC	c.(1312-1314)cgcfs	p.R438fs		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	438						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					TGCGGGGGGCGGGGGGTGCCT	0.776													---	4	---	---	2	---					
CCDC18	343099	broad.mit.edu	37	1	93683360	93683371	+	In_Frame_Del	DEL	AGCCTTTGAAAA	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:93683360_93683371delAGCCTTTGAAAA	uc021opx.1	+	13	2057_2068	c.1896_1907delAGCCTTTGAAAA	c.(1894-1908)ttagcctttgaaaaa>tta	p.AFEK633del	CCDC18_uc009wdl.1_Intron	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	632										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAATTTGTTTAGCCTTTGAAAAAGCAAAGAAA	0.288													---	124	---	---	11	---					
MIA3	375056	broad.mit.edu	37	1	222837459	222837459	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:222837459delT	uc001hnl.3	+	26	5391	c.5382delT	c.(5380-5382)cctfs	p.P1794fs	MIA3_uc001hnm.3_Frame_Shift_Del_p.P672fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1794	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCTGCGGACCTTTTGGGCCTC	0.537													---	649	---	---	7	---					
POLQ	10721	broad.mit.edu	37	3	121207488	121207489	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:121207488_121207489insA	uc003eee.4	-	15	4418_4419	c.4289_4290insT	c.(4288-4290)ttafs	p.L1430fs	POLQ_uc003eed.3_Frame_Shift_Ins_p.L602fs	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1430					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATTCTTTTTTAAAAAAAGACC	0.342								DNA polymerases (catalytic subunits)					---	51	---	---	8	---					
SPOCK1	6695	broad.mit.edu	37	5	136448181	136448181	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:136448181delA	uc003lbo.3	-	3	608	c.417delT	c.(415-417)tgtfs	p.C139fs	SPOCK1_uc003lbp.3_Frame_Shift_Del_p.C139fs	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	139	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGCCACGGGACAGGGCTTGC	0.458													---	45	---	---	19	---					
CDKN2A	1029	broad.mit.edu	37	9	21974715	21974732	+	In_Frame_Del	DEL	GCAGCGCCCCCGCCTCCA	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:21974715_21974732delGCAGCGCCCCCGCCTCCA	uc003zpk.3	-	0	401_418	c.95_112delTGGAGGCGGGGGCGCTGC	c.(94-114)ctggaggcgggggcgctgccc>ccc	p.LEAGAL32del	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_In_Frame_Del_p.LEAGAL32del|CDKN2A_uc010miu.3_In_Frame_Del_p.LEAGAL32del|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	32			L -> P (in CMM2).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(11)|p.G35E(6)|p.A36T(4)|p.L37L(4)|p.A34V(4)|p.V28_E33del(4)|p.E33*(4)|p.R29_A34del(4)|p.G35R(4)|p.E33D(2)|p.A34A(2)|p.E33fs*8(2)|p.L37fs*6(2)|p.A36fs*8(2)|p.L32R(2)|p.G35fs*13(2)|p.V28_V51del(2)|p.G35V(2)|p.L31P(1)|p.R29fs*9(1)|p.0(1)|p.A21_L32del(1)|p.P38fs*7(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGTGCGTTGGGCAGCGCCCCCGCCTCCAGCAGCGCCCG	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	74	---	---	90	---					
PDZD7	79955	broad.mit.edu	37	10	102778804	102778804	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:102778804delC	uc001ksn.3	-	7	1349	c.1099delG	c.(1099-1101)gacfs	p.D367fs	PDZD7_uc021pxc.1_Frame_Shift_Del_p.D367fs|PDZD7_uc001kso.2_Frame_Shift_Del_p.D367fs	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	367						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		ATGGCTGTGTCCGCCCGCCCC	0.736											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	4	---	---	2	---					
KRTAP5-6	440023	broad.mit.edu	37	11	1718543	1718557	+	In_Frame_Del	DEL	GCTGTGGGTCCAGCT	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:1718543_1718557delGCTGTGGGTCCAGCT	uc001lua.3	+	0	119_133	c.68_82delGCTGTGGGTCCAGCT	c.(67-84)ggctgtgggtccagctgc>ggc	p.CGSSC24del	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	24						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGGGGGCTGTGGGTCCAGCTGCTGTGTGCC	0.656													---	59	---	---	24	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:49087434_49087436delATG	uc001rsd.4	-	8	1884_1886	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del	CCNT1_uc009zkz.2_In_Frame_Del_p.H236del|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													---	485	---	---	7	---					
SACS	26278	broad.mit.edu	37	13	23908923	23908941	+	Frame_Shift_Del	DEL	AGTAAATTGTCAAAAAATG	-	-	rs144616826		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:23908923_23908941delAGTAAATTGTCAAAAAATG	uc001uon.2	-	9	9663_9681	c.9074_9092delCATTTTTTGACAATTTACT	c.(9073-9093)ccattttttgacaatttactafs	p.P3025fs	SACS_uc001uoo.2_Frame_Shift_Del_p.P2878fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3025					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTT	0.352													---	61	---	---	14	---					
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:31715381_31715382insT	uc001utl.3	-	12	2008_2009	c.1737_1738insA	c.(1735-1740)aaagttfs	p.K579fs	HSPH1_uc001utj.3_Frame_Shift_Ins_p.K577fs|HSPH1_uc001utk.3_Frame_Shift_Ins_p.K533fs|HSPH1_uc010aaw.3_Frame_Shift_Ins_p.K536fs|HSPH1_uc010tds.2_Frame_Shift_Ins_p.K501fs	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	577					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376													---	118	---	---	7	---					
SPRYD7	57213	broad.mit.edu	37	13	50502187	50502187	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:50502187delA	uc001vdl.2	-	2	512	c.258delT	c.(256-258)gttfs	p.V86fs	SPRYD7_uc001vdm.2_Frame_Shift_Del_p.V47fs|SPRYD7_uc010tgm.1_Intron|SPRYD7_uc010adj.3_Frame_Shift_Del_p.V86fs	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	Homo sapiens SPRY domain containing 7 (SPRYD7), transcript variant 1, mRNA.	86	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						GATTCAAGTTAACCTTCTGAG	0.393													---	43	---	---	10	---					
TCL6	27004	broad.mit.edu	37	14	96129844	96129844	+	RNA	DEL	C	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:96129844delC	uc001yep.1	+	5		c.1382delC			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Intron|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		aggtttcctgccccagtgctc	0.532			T	TRA@	T-ALL								---	17	---	---	8	---					
DHX8	1659	broad.mit.edu	37	17	41584910	41584915	+	In_Frame_Del	DEL	GAAACA	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:41584910_41584915delGAAACA	uc002idu.1	+	13	2035_2040	c.1963_1968delGAAACA	c.(1963-1968)gaaacadel	p.ET655del	DHX8_uc010wif.1_In_Frame_Del_p.ET564del|DHX8_uc010wig.2_In_Frame_Del_p.ET655del	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	655	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CACTAGCCCTGAAACAGTCATCAAGT	0.476													---	18	---	---	18	---					
LPIN2	9663	broad.mit.edu	37	18	2939491	2939495	+	Frame_Shift_Del	DEL	GGGAA	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:2939491_2939495delGGGAA	uc002klo.3	-	5	1044_1048	c.805_809delTTCCC	c.(805-810)ttcccafs	p.F269fs		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	269					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGTGGACTCTGGGAATCCGCCCCAC	0.502													---	13	---	---	32	---					
SBK2	646643	broad.mit.edu	37	19	56041414	56041415	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56041414_56041415delCC	uc010ygc.2	-	3	747_748	c.732_733delGG	c.(730-735)ctggacfs	p.L244fs		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	244	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCAGGCGTCCAGGGCGGGCT	0.752													---	4	---	---	2	---					
INSM1	3642	broad.mit.edu	37	20	20350010	20350010	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:20350010delT	uc002wrx.3	+	0	1246	c.1099delT	c.(1099-1101)tacfs	p.Y367fs		NM_002196	NP_002187	Q01101	INSM1_HUMAN	Homo sapiens insulinoma-associated 1 (INSM1), mRNA.	367					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GGACGGGCTCTACGAGTGCCA	0.741													---	4	---	---	7	---					
FRG1B	284802	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:29628229_29628230insA	uc010ztl.1	+	2	173_174	c.141_142insA	c.(139-144)gggaaafs	p.G47fs	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_5'UTR					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351													---	97	---	---	9	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	5	---	---	3	---					
